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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 418 | 0.0024 | 52 | c.119 others(69): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF3A_chr10_119028670_119085817 | 119052368 | T | TTGTGTGT others(45): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 350 | 0.0029 | 52 | c.219 others(71): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 14/21 | chr10 | TogoVar | |||||||
EIF4EBP2_chr10_70399145_70433618 | 70408035 | A | ACCCCCCC others(45): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0107 | 1 | 422 | 0.0024 | 52 | c.145 others(69): Show |
EIF4EBP2 | ENSG00000148730.7 | transcript | ENST00000373218.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3219435 | G | GGCCCTGA others(45): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 250 | 0.0040 | 52 | c.417 others(69): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ELANE_chr19_847303_861243 | 851457 | A | AGGGCCCT others(45): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(107): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0009 | a0001c0001t0001a0001c0004t0001a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(33): Show |
110 | 403 | 0.2730 | 52 | c.-87 others(61): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 845 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(45): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 276 | 0.0036 | 52 | c.*60 others(63): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(45): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 276 | 0.0036 | 52 | c.*60 others(63): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAAGAA others(45): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 276 | 0.0036 | 52 | c.*60 others(63): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23735105 | C | CAAAAAAA others(45): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 352 | 0.0028 | 52 | c.230 others(69): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927389 | A | ATATATAG others(45): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 314 | 0.0032 | 52 | c.196 others(69): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927400 | T | TACACACA others(45): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 314 | 0.0032 | 52 | c.196 others(69): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927772 | C | CATATGTG others(45): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 314 | 0.0032 | 52 | c.196 others(69): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELMO1_chr7_36847906_37453864 | 37086795 | A | AAAAGTTT others(45): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0030 a0001c0001t0003g0065 a0001c0001t0005g0075 others(4): Show |
7 | 92 | 0.0761 | 52 | c.130 others(71): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 15/21 | chr7 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGGG others(45): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 312 | 0.0032 | 52 | c.-47 others(63): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGCGGG others(45): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 312 | 0.0032 | 52 | c.-47 others(63): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411195 | C | CGGGTGTG others(45): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 312 | 0.0032 | 52 | c.-47 others(63): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4581 | chr20 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084169 | A | ATATATGA others(45): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 NA18985.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0061 | a0001c0001t0003g0313 a0001c0001t0010g0181 a0001c0001t0010g0187 others(3): Show |
6 | 338 | 0.0178 | 52 | c.221 others(71): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084185 | A | ACATATAT others(45): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052 a0001c0001t0007g0171 |
2 | 338 | 0.0059 | 52 | c.221 others(71): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(45): Show |
intron_variant | MODIFIER | HG04184.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0040 | a0001c0001t0016g0098 a0001c0001t0040g0230 |
2 | 338 | 0.0059 | 52 | c.90- others(69): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117924 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0015a0001c0001t0033others(2): Show | a0001c0001t0011g0045 a0001c0001t0015g0148 a0001c0001t0015g0149 others(3): Show |
6 | 338 | 0.0178 | 52 | c.90- others(69): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117924 | A | ATATCTAT others(45): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0169 | 1 | 338 | 0.0030 | 52 | c.90- others(69): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158559 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0027 |
3 | 338 | 0.0089 | 52 | c.89+ others(69): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31560684 | A | ATTGTTTT others(45): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01361.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0221 a0001c0001t0003g0190 a0001c0001t0003g0213 others(5): Show |
8 | 270 | 0.0296 | 52 | c.381 others(71): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100448822 | T | TCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0215 | 1 | 262 | 0.0038 | 52 | c.377 others(69): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99811139 | A | ACAGTGAT others(45): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01071.hp2 HG01074.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0002 | a0001c0003t0003g0277 a0001c0003t0003g0279 a0002c0001t0002g0278 |
3 | 288 | 0.0104 | 52 | c.67+ others(69): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(45): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02083.hp1 HG03831.hp2 others(1): Show |
a0002 | a0002c0001a0002c0012 | a0002c0001t0002a0002c0012t0002 | a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0110 others(1): Show |
4 | 430 | 0.0093 | 52 | c.253 others(67): 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(45): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0184 | 1 | 430 | 0.0023 | 52 | c.253 others(67): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENTPD8_chr9_137429364_137446357 | 137436339 | G | GGCCGGAT others(45): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0006 | a0006c0009 | a0006c0009t0006 | a0006c0009t0006g0026 | 2 | 392 | 0.0051 | 52 | c.787 others(66): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137436380 | G | GCCCTCCC others(45): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 3 | 392 | 0.0077 | 52 | c.787 others(67): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137436391 | T | TGCCGGAT others(45): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0044 a0001c0001t0007g0141 |
3 | 392 | 0.0077 | 52 | c.786 others(66): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137436417 | G | GCCCATAC others(45): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0002g0155 others(4): Show |
8 | 392 | 0.0204 | 52 | c.786 others(67): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
ENTPD8_chr9_137429364_137446357 | 137440340 | C | CCCCCCAG others(45): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 392 | 0.0051 | 52 | c.-21 others(67): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41174953 | C | CAAGCAGA others(45): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0171 | 1 | 300 | 0.0033 | 52 | c.477 others(71): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 29/30 | chr22 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112314505 | T | TAAAAAAA others(45): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 228 | 0.0044 | 52 | c.100 others(69): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109311747 | A | AGGCTGGG others(45): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0135 | 1 | 318 | 0.0031 | 52 | c.306 others(69): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 1/25 | chr9 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89208423 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | HG01975.hp2 HG03516.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0066 a0002c0006t0002g0156 |
2 | 200 | 0.0100 | 52 | c.154 others(69): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA3_chr3_89102621_89487134 | 89208423 | G | GAAGGAAG others(45): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0065 | 1 | 200 | 0.0050 | 52 | c.154 others(69): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143855406 | G | GTATATCT others(45): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01175.hp1 others(2): Show |
a0008a0077a0087others(2): Show | a0008c0092a0077c0181a0087c0133others(2): Show | a0008c0092t0002a0077c0181t0007a0087c0133t0007others(2): Show | a0008c0092t0002g0383 a0077c0181t0007g0384 a0087c0133t0007g0368 others(2): Show |
5 | 424 | 0.0118 | 52 | c.*25 others(63): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1917 | chr8 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(45): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0010 | a0010c0015 | a0010c0015t0002 | a0010c0015t0002g0047 | 1 | 358 | 0.0028 | 52 | c.432 others(69): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 66018473 | T | TTATATAT others(45): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 |
3 | 306 | 0.0098 | 52 | c.534 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018473 | T | TTATATTA others(45): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0001 | a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 others(6): Show |
9 | 306 | 0.0294 | 52 | c.534 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018473 | T | TTATATTA others(45): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02145.hp1 NA19064.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0001t0013a0001c0023t0001 | a0001c0001t0001g0060 a0001c0001t0013g0124 a0001c0023t0001g0117 |
3 | 306 | 0.0098 | 52 | c.534 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121677 | A | ATCTCTAT others(45): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0048 | a0002c0002t0038g0082 a0002c0002t0048g0070 |
2 | 162 | 0.0124 | 52 | c.156 others(71): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122133 | A | ATCTCTAT others(45): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0012 | 1 | 162 | 0.0062 | 52 | c.156 others(71): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERCC2_chr19_45344837_45375573 | 45346887 | T | TTCCCCAG others(45): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0252 | 1 | 412 | 0.0024 | 52 | c.*47 others(63): Show |
ERCC2 | ENSG00000104884.17 | transcript | ENST00000391945.10 | protein_coding | 2949 | chr19 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908342 | G | GGGGAGGG others(45): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 334 | 0.0030 | 52 | c.156 others(69): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98091993 | C | CCCTTCCT others(45): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18949.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 a0001c0001t0002g0237 a0001c0001t0002g0260 others(1): Show |
4 | 442 | 0.0091 | 52 | c.101 others(71): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERLIN2_chr8_37731634_37763422 | 37734478 | A | AGGAAGGA others(45): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 2 | 224 | 0.0089 | 52 | c.-22 others(63): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 2155 | chr8 | TogoVar | |||||||
ERLIN2_chr8_37731634_37763422 | 37734478 | A | AGGAAGGA others(45): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 224 | 0.0045 | 52 | c.-22 others(63): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 2155 | chr8 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239801 | A | ATATATAT others(45): Show |
intron_variant | MODIFIER | HG03516.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0081 a0001c0001t0007g0082 |
2 | 396 | 0.0051 | 52 | c.506 others(69): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar |