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 | 172908330 | G | GAGGTGGG others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0121 others(3): Show |
6 | 334 | 0.0180 | 13 | c.156 others(30): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908346 | G | GGGGGAGG others(6): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 334 | 0.0030 | 13 | c.156 others(30): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35539469 | T | TAATATAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0048 a0001c0003t0001g0223 a0001c0003t0003g0222 |
4 | 364 | 0.0110 | 13 | c.-26 others(24): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2608 | chr20 | TogoVar | |||||||
ERGIC3_chr20_35537078_35562634 | 35553020 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00639.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(24): Show |
65 | 364 | 0.1786 | 13 | c.686 others(30): 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(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0089 others(42): Show |
45 | 360 | 0.1250 | 13 | c.389 others(30): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 3/9 | chr21 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38466300 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG02602.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175 a0001c0001t0002g0166 |
2 | 360 | 0.0056 | 13 | c.19- others(30): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
ERI1_chr8_8997897_9038338 | 9004485 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0272 | 1 | 426 | 0.0024 | 13 | c.108 others(30): 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(6): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0014a0001c0002t0027others(1): Show | a0001c0002t0013g0099 a0001c0002t0014g0084 a0001c0002t0027g0279 others(1): Show |
4 | 426 | 0.0094 | 13 | c.499 others(28): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44259724 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 340 | 0.0029 | 13 | c.832 others(32): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44310951 | T | TCGCGCGC others(6): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 340 | 0.0029 | 13 | c.666 others(30): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44342857 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 340 | 0.0029 | 13 | c.212 others(30): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTG others(6): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0270 | 1 | 378 | 0.0027 | 13 | c.169 others(30): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03471.hp1 NA18969.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0071 others(2): Show |
5 | 378 | 0.0132 | 13 | c.169 others(30): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 708681 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19012.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0060 a0005c0007t0001g0239 |
2 | 378 | 0.0053 | 13 | c.169 others(30): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH2_chr2_170765378_170803977 | 170766464 | T | TGTGTGTG others(6): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 390 | 0.0026 | 13 | c.-42 others(24): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 3913 | chr2 | TogoVar | |||||||
ERICH2_chr2_170765378_170803977 | 170774564 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG02896.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0045 a0004c0006t0002g0149 a0004c0006t0002g0150 others(2): Show |
6 | 390 | 0.0154 | 13 | c.507 others(30): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERICH4_chr19_41438156_41449765 | 41446273 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 13 | c.*20 others(24): Show |
ERICH4 | ENSG00000204978.3 | transcript | ENST00000378187.3 | protein_coding | 1509 | chr19 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98075785 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(116): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0010a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0043 a0001c0001t0001g0089 others(115): Show |
119 | 442 | 0.2692 | 13 | c.58+ others(30): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091875 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01516.hp2 HG02165.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0001 | a0001c0001t0002g0215 a0004c0004t0001g0051 a0004c0004t0001g0072 |
3 | 442 | 0.0068 | 13 | c.101 others(32): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091897 | T | TTTTTCTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 442 | 0.0023 | 13 | c.101 others(32): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98091947 | T | TTCTTCCT others(6): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 442 | 0.0023 | 13 | c.101 others(32): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH6B_chr13_45536294_45620739 | 45606548 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0274 | 1 | 326 | 0.0031 | 13 | c.-59 others(30): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | |||||||
ERLIN1_chr10_100145094_100191029 | 100173890 | T | TACTGAGG others(6): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 386 | 0.0026 | 13 | c.504 others(28): Show |
ERLIN1 | ENSG00000107566.14 | transcript | ENST00000421367.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
ERLIN2_chr8_37731634_37763422 | 37752607 | C | CTGAGGGC others(6): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0068 | 1 | 224 | 0.0045 | 13 | c.740 others(28): Show |
ERLIN2 | ENSG00000147475.17 | transcript | ENST00000519638.3 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64119376 | G | GTTGTTTT others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0015a0001c0002t0021 | a0001c0002t0015g0220 a0001c0002t0015g0221 a0001c0002t0021g0219 |
3 | 234 | 0.0128 | 13 | c.54+ others(30): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | |||||||
ERN2_chr16_23685310_23718222 | 23690753 | C | CCTGGCGG others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(151): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(15): Show | a0001c0001t0002a0001c0001t0005a0001c0005t0003others(20): Show | a0001c0001t0002g0086 a0001c0001t0002g0299 a0001c0001t0002g0304 others(120): Show |
154 | 412 | 0.3738 | 13 | c.*77 others(20): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 22/22 | 77 | chr16 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52647142 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0010 a0001c0001t0012g0198 a0001c0001t0012g0199 |
4 | 398 | 0.0101 | 13 | c.112 others(30): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239909 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0009 | a0006c0009t0028 | a0006c0009t0028g0390 | 1 | 396 | 0.0025 | 13 | c.505 others(30): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239911 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0009 | a0006c0009t0028 | a0006c0009t0028g0388 | 1 | 396 | 0.0025 | 13 | c.505 others(30): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236257560 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03098.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0003a0001c0003t0007 | a0001c0001t0007g0262 a0001c0001t0007g0342 a0001c0003t0003g0183 others(1): Show |
4 | 396 | 0.0101 | 13 | c.223 others(30): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236279504 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG02056.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0004a0002c0002t0006others(2): Show | a0001c0001t0019g0337 a0001c0001t0019g0369 a0002c0002t0004g0271 others(6): Show |
9 | 396 | 0.0227 | 13 | c.102 others(30): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
ERP29_chr12_112008426_112028449 | 112021515 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 a0001c0002t0001g0066 |
4 | 398 | 0.0101 | 13 | c.284 others(28): Show |
ERP29 | ENSG00000089248.7 | transcript | ENST00000261735.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0162 a0001c0001t0003g0105 a0001c0001t0005g0194 others(1): Show |
4 | 220 | 0.0182 | 13 | c.286 others(30): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100837 | T | TATAAATA others(6): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0135 |
2 | 220 | 0.0091 | 13 | c.-19 others(24): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1838 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100862 | A | ATATATAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(98): Show |
101 | 220 | 0.4591 | 13 | c.-20 others(24): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1863 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100100929 | A | ATATATTA others(6): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 others(7): Show |
10 | 220 | 0.0455 | 13 | c.-20 others(24): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1930 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | 13 | c.*57 others(24): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007498 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA19056.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0008g0095 |
3 | 402 | 0.0075 | 13 | c.*57 others(24): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4228 | chr1 | TogoVar | |||||||
ERVK3-1_chr19_58300377_58321812 | 58317583 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 NA18939.hp1 NA18980.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0026 others(2): Show |
6 | 424 | 0.0142 | 13 | c.*28 others(24): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 772 | chr19 | TogoVar | |||||||
ERVMER34-1_chr4_52737553_52756425 | 52741154 | G | GGAAAGGA others(6): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 NA18990.hp1 NA19058.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0009 | 3 | 392 | 0.0077 | 13 | c.*26 others(24): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1398 | chr4 | TogoVar | |||||||
ERVMER34-1_chr4_52737553_52756425 | 52753211 | G | GTTTCTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 392 | 0.0026 | 13 | c.-24 others(24): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1787 | chr4 | TogoVar | |||||||
ESAM_chr11_124748126_124767290 | 124749885 | A | AACAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02135.hp2 HG02258.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 others(3): Show |
25 | 430 | 0.0581 | 13 | c.*37 others(24): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 3240 | chr11 | TogoVar | |||||||
ESAM_chr11_124748126_124767290 | 124749885 | A | ACAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 430 | 0.0023 | 13 | c.*37 others(24): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 3240 | chr11 | TogoVar | |||||||
ESCO2_chr8_27769554_27810316 | 27802656 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0126 | 1 | 380 | 0.0026 | 13 | c.167 others(30): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 10/10 | chr8 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03831.hp1 NA18961.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0301 a0001c0001t0001g0321 a0001c0002t0001g0179 |
3 | 390 | 0.0077 | 13 | c.226 others(30): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238119382 | T | TTGGATGG others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp1 others(17): Show |
a0001a0002a0003others(6): Show | a0001c0005a0001c0008a0002c0092others(8): Show | a0001c0005t0003a0001c0005t0023a0001c0008t0003others(11): Show | a0001c0005t0003g0197 a0001c0005t0023g0064 a0001c0008t0003g0076 others(17): Show |
20 | 408 | 0.0490 | 13 | c.987 others(30): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238119525 | A | AGATGGAG others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0132 | 1 | 408 | 0.0025 | 13 | c.987 others(30): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238119564 | A | ATGGATGG others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(73): Show |
a0001a0002a0003others(12): Show | a0001c0012a0001c0016a0001c0018others(30): Show | a0001c0012t0003a0001c0012t0006a0001c0016t0004others(38): Show | a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(67): Show |
76 | 408 | 0.1863 | 13 | c.987 others(30): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151915193 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0009 | a0002c0009t0006 | a0002c0009t0006g0200 | 1 | 250 | 0.0040 | 13 | c.761 others(32): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64241145 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18939.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0032a0001c0002t0054a0001c0002t0074others(1): Show | a0001c0002t0032g0137 a0001c0002t0054g0139 a0001c0002t0074g0249 others(3): Show |
6 | 368 | 0.0163 | 13 | c.122 others(32): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar |