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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERGIC1_chr5_172829251_172957683 | 172908342 | G | GGGGAGGG others(4): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0332 | 1 | 334 | 0.0030 | 11 | c.156 others(28): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908345 | G | GGGGAGGG others(4): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 334 | 0.0030 | 11 | c.156 others(28): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172909168 | C | CCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 334 | 0.0030 | 11 | c.156 others(26): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172909168 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0039 others(62): Show |
65 | 334 | 0.1946 | 11 | c.156 others(26): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172947876 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 334 | 0.0030 | 11 | c.766 others(28): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
ERGIC3_chr20_35537078_35562634 | 35553020 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0059 others(4): Show |
8 | 364 | 0.0220 | 11 | c.686 others(28): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38406154 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp2 HG02080.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0275 a0001c0001t0002g0109 a0001c0001t0002g0139 others(11): Show |
14 | 360 | 0.0389 | 11 | c.389 others(28): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERH_chr14_69375128_69403299 | 69387695 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 a0001c0001t0001g0193 |
2 | 398 | 0.0050 | 11 | c.92- others(24): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 9004485 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0276 | 1 | 426 | 0.0024 | 11 | c.108 others(28): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9015722 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0048 | a0001c0002t0018g0078 a0001c0002t0048g0081 |
2 | 426 | 0.0047 | 11 | c.499 others(26): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9015740 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0076 | 1 | 426 | 0.0024 | 11 | c.499 others(26): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9025702 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0274 | 1 | 426 | 0.0024 | 11 | c.808 others(28): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44310962 | C | CGCGCGCG others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 340 | 0.0029 | 11 | c.666 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342857 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 340 | 0.0029 | 11 | c.212 others(28): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 696546 | C | CTCCACTC others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 378 | 0.0027 | 11 | c.170 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708680 | A | AGTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(70): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0032 others(67): Show |
73 | 378 | 0.1931 | 11 | c.169 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 HG04228.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116 a0001c0001t0001g0215 a0001c0001t0002g0244 |
3 | 378 | 0.0079 | 11 | c.169 others(28): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98075785 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01943.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(10): Show |
13 | 442 | 0.0294 | 11 | c.58+ others(28): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98085136 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0377 |
2 | 442 | 0.0045 | 11 | c.59- others(26): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091836 | T | TTTTCTTT others(4): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 442 | 0.0023 | 11 | c.101 others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091897 | T | TTCCTTTC others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0130 a0001c0001t0002g0133 |
3 | 442 | 0.0068 | 11 | c.101 others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTCCTTT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 442 | 0.0023 | 11 | c.101 others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98091900 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03688.hp2 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243 a0001c0001t0001g0326 a0001c0001t0002g0112 others(1): Show |
4 | 442 | 0.0091 | 11 | c.101 others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ERICH6B_chr13_45536294_45620739 | 45606548 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02965.hp1 |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0001a0011c0015t0003 | a0001c0001t0001g0063 a0011c0015t0003g0017 |
2 | 326 | 0.0061 | 11 | c.-59 others(28): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | |||||||
ERO1A_chr14_52634915_52700558 | 52647142 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0039a0002c0004t0006 | a0001c0001t0039g0153 a0002c0004t0006g0019 |
2 | 398 | 0.0050 | 11 | c.112 others(28): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236212102 | A | ATCTAAAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0112 | 1 | 396 | 0.0025 | 11 | c.*64 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2998 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239911 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0163 | 1 | 396 | 0.0025 | 11 | c.505 others(28): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245581 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 | 1 | 396 | 0.0025 | 11 | c.432 others(28): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236258149 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 396 | 0.0025 | 11 | c.223 others(28): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236279504 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00733.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0103 a0001c0001t0002g0314 a0001c0001t0003g0278 others(55): Show |
59 | 396 | 0.1490 | 11 | c.102 others(28): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
ERP29_chr12_112008426_112028449 | 112021515 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02027.hp2 HG02071.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0004 a0001c0002t0001g0021 a0001c0002t0001g0057 others(2): Show |
25 | 398 | 0.0628 | 11 | c.284 others(26): Show |
ERP29 | ENSG00000089248.7 | transcript | ENST00000261735.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 99988920 | T | TGCTCACT others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 220 | 0.0046 | 11 | c.101 others(30): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02559.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0185 others(1): Show |
4 | 220 | 0.0182 | 11 | c.286 others(28): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100063075 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03453.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0200 a0001c0001t0006g0002 a0001c0001t0006g0005 |
3 | 220 | 0.0136 | 11 | c.58- others(26): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100812 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0071 | 1 | 220 | 0.0046 | 11 | c.-19 others(22): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1813 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02074.hp2 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0113 others(2): Show |
5 | 402 | 0.0124 | 11 | c.*57 others(22): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 402 | 0.0025 | 11 | c.*57 others(22): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007498 | T | TATATATA others(4): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02965.hp2 NA18747.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0019 others(1): Show |
5 | 402 | 0.0124 | 11 | c.*57 others(22): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4228 | chr1 | TogoVar | |||||||
ERVFRD-1_chr6_11097489_11116725 | 11100945 | T | TTTCTAGG others(4): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 426 | 0.0024 | 11 | c.*27 others(22): Show |
ERVFRD-1 | ENSG00000244476.3 | transcript | ENST00000472091.2 | protein_coding | 1543 | chr6 | TogoVar | |||||||
ERVMER34-1_chr4_52737553_52756425 | 52741154 | G | GAAAGAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 392 | 0.0026 | 11 | c.*26 others(22): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1398 | chr4 | TogoVar | |||||||
ERVW-1_chr7_92463380_92482946 | 92479239 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 | 1 | 422 | 0.0024 | 11 | c.-20 others(22): Show |
ERVW-1 | ENSG00000242950.7 | transcript | ENST00000603053.2 | protein_coding | 1294 | chr7 | TogoVar | |||||||
ESAM_chr11_124748126_124767290 | 124749874 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 430 | 0.0023 | 11 | c.*37 others(22): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 3251 | chr11 | TogoVar | |||||||
ESAM_chr11_124748126_124767290 | 124749875 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 430 | 0.0023 | 11 | c.*37 others(22): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 3250 | chr11 | TogoVar | |||||||
ESAM_chr11_124748126_124767290 | 124749885 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG03239.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 a0002c0002t0002g0100 |
3 | 430 | 0.0070 | 11 | c.*37 others(22): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 3240 | chr11 | TogoVar | |||||||
ESCO2_chr8_27769554_27810316 | 27802628 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0137 | 1 | 380 | 0.0026 | 11 | c.167 others(28): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | chr8 | TogoVar | |||||||
ESCO2_chr8_27769554_27810316 | 27805287 | C | CAAAAAAA others(4): Show |
intragenic_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0104 | 1 | 380 | 0.0026 | 11 | n.278 others(28): Show |
ESCO2 | ENSG00000171320.15 | gene_variant | ENSG00000171320.15 | chr8 | TogoVar | |||||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01243.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0239 a0001c0001t0001g0317 a0001c0002t0001g0171 others(4): Show |
7 | 390 | 0.0180 | 11 | c.226 others(28): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESPN_chr1_6419776_6465944 | 6433133 | A | AAAAAGAA others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0017 | a0017c0035 | a0017c0035t0002 | a0017c0035t0002g0158 | 1 | 276 | 0.0036 | 11 | c.488 others(28): Show |
ESPN | ENSG00000187017.18 | transcript | ENST00000645284.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151956843 | A | AATAATAT others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0221 | 1 | 250 | 0.0040 | 11 | c.109 others(32): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151977441 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0166 | 1 | 250 | 0.0040 | 11 | c.109 others(32): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |