regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EREG_chr4_74360145_74393749 | 74381984 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00597.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0001g0098others(38): Show | 50 | 358 | 0.1397 | 5 | c.279 others(20): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ERFE_chr2_238153970_238173890 | 238168988 | G | GAATCA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01099.hp2 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0007a0001c0001t0005g0015a0001c0001t0005g0018others(12): Show | 39 | 456 | 0.0855 | 5 | c.*19 others(16): Show |
ERFE | ENSG00000178752.16 | transcript | ENST00000546354.6 | protein_coding | 99 | chr2 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172862307 | C | CAAAAA | intron_variant | MODIFIER | NA18944.hp1 NA18954.hp1 NA18960.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0001g0059a0001c0001t0001g0195others(3): Show | 6 | 334 | 0.0180 | 5 | c.21- others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172894132 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0213a0001c0001t0001g0325a0001c0001t0003g0021others(5): Show | 8 | 334 | 0.0240 | 5 | c.83- others(20): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172908345 | G | GGGGGA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0030others(40): Show | 43 | 334 | 0.1287 | 5 | c.156 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172938006 | A | AAAAAG | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0003g0154a0001c0001t0003g0297a0001c0001t0003g0298others(14): Show | 17 | 334 | 0.0509 | 5 | c.765 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172939076 | A | AAAAAG | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0003g0154a0001c0001t0003g0297a0001c0001t0003g0298others(7): Show | 10 | 334 | 0.0299 | 5 | c.765 others(22): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ERGIC1_chr5_172829251_172957683 | 172952533 | A | AAAAAC | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01243.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0015a0001c0001t0003g0021a0001c0001t0003g0044others(33): Show | 36 | 334 | 0.1078 | 5 | c.*17 others(16): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 10/10 | 1718 | chr5 | TogoVar | |||||
ERGIC2_chr12_29332352_29386172 | 29336543 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0011a0001c0002t0002others(8): Show | a0001c0001t0008g0015a0001c0001t0011g0076a0001c0002t0002g0002others(27): Show | 64 | 404 | 0.1584 | 5 | c.*46 others(16): Show |
ERGIC2 | ENSG00000087502.19 | transcript | ENST00000360150.9 | protein_coding | 808 | chr12 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35544805 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 7 | 364 | 0.0192 | 5 | c.367 others(22): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ERG_chr21_38375036_38503477 | 38423981 | A | AAAAAG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(197): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0061others(196): Show | 200 | 360 | 0.5556 | 5 | c.237 others(20): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 2/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38474348 | G | GCGACA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0101a0001c0001t0001g0119a0001c0001t0001g0286others(61): Show | 65 | 360 | 0.1806 | 5 | c.18+ others(22): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERG_chr21_38375036_38503477 | 38480591 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02027.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0001g0108others(31): Show | 34 | 360 | 0.0944 | 5 | c.18+ others(22): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
ERI1_chr8_8997897_9038338 | 9023793 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00741.hp1 others(10): Show |
a0000a0001 | a0000c0008a0001c0002a0001c0004 | a0000c0008t0003a0001c0002t0004a0001c0002t0006others(2): Show | a0000c0008t0003g0128a0001c0002t0004g0061a0001c0002t0006g0026others(9): Show | 13 | 426 | 0.0305 | 5 | c.807 others(22): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI1_chr8_8997897_9038338 | 9024407 | C | CTCTTT | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp2 HG01496.hp2 others(4): Show |
a0000a0001 | a0000c0001a0001c0002a0001c0004 | a0000c0001t0001a0000c0001t0005a0000c0001t0008others(3): Show | a0000c0001t0001g0180a0000c0001t0005g0203a0000c0001t0005g0249others(4): Show | 7 | 426 | 0.0164 | 5 | c.807 others(22): Show |
ERI1 | ENSG00000104626.15 | transcript | ENST00000250263.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERI3_chr1_44216070_44360257 | 44272841 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(138): Show | 141 | 340 | 0.4147 | 5 | c.831 others(24): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44281588 | G | GAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0145a0001c0001t0001g0160others(3): Show | 6 | 340 | 0.0177 | 5 | c.831 others(22): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44281601 | A | AAATAT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0133a0001c0001t0001g0146a0001c0001t0001g0148others(4): Show | 7 | 340 | 0.0206 | 5 | c.831 others(22): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
ERI3_chr1_44216070_44360257 | 44342858 | T | TATATA | intron_variant | MODIFIER | HG02738.hp2 HG02895.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0125a0001c0001t0001g0156others(3): Show | 6 | 340 | 0.0177 | 5 | c.212 others(22): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 688276 | T | TCCCCG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0208a0001c0001t0001g0209others(14): Show | 18 | 378 | 0.0476 | 5 | c.304 others(22): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 696597 | A | ACTCCT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0099a0001c0001t0001g0208others(6): Show | 10 | 378 | 0.0265 | 5 | c.170 others(22): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 701114 | G | GGAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(231): Show | 241 | 378 | 0.6376 | 5 | c.170 others(22): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 712420 | G | GTGTTT | intron_variant | MODIFIER | HG00673.hp1 HG02132.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153a0001c0001t0001g0154 | 3 | 378 | 0.0079 | 5 | c.169 others(22): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
ERICH2_chr2_170765378_170803977 | 170788475 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(193): Show | 373 | 390 | 0.9564 | 5 | c.105 others(24): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ERICH4_chr19_41438156_41449765 | 41448217 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02886.hp2 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0002 | 7 | 422 | 0.0166 | 5 | c.*39 others(16): Show |
ERICH4 | ENSG00000204978.3 | transcript | ENST00000378187.3 | protein_coding | 3453 | chr19 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98070660 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02698.hp1 HG03098.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0076a0001c0001t0002g0010others(3): Show | 6 | 442 | 0.0136 | 5 | c.58+ others(20): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98085136 | C | CTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186a0001c0001t0001g0248a0001c0001t0001g0432others(6): Show | 9 | 442 | 0.0204 | 5 | c.59- others(20): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98091887 | T | TCTTTC | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299a0001c0001t0002g0355a0001c0001t0002g0358 | 3 | 442 | 0.0068 | 5 | c.101 others(24): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH5_chr8_98059568_98098609 | 98091891 | T | TCTTTC | intron_variant | MODIFIER | HG01515.hp2 HG01891.hp2 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084a0001c0001t0001g0434a0001c0001t0002g0010others(6): Show | 9 | 442 | 0.0204 | 5 | c.101 others(24): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ERICH6B_chr13_45536294_45620739 | 45606548 | T | TATATA | intron_variant | MODIFIER | NA18969.hp2 NA18984.hp2 NA19000.hp2 |
a0001a0019 | a0001c0001a0019c0037 | a0001c0001t0001a0019c0037t0001 | a0001c0001t0001g0081a0001c0001t0001g0095a0019c0037t0001g0099 | 3 | 326 | 0.0092 | 5 | c.-59 others(22): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150665515 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(116): Show |
a0001a0002a0003others(17): Show | a0001c0002a0001c0003a0002c0001others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(24): Show | a0001c0002t0001g0215a0001c0002t0001g0222a0001c0002t0001g0241others(109): Show | 119 | 348 | 0.3420 | 5 | c.172 others(24): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 13/13 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150702801 | G | GTTAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(287): Show |
a0001a0002a0003others(28): Show | a0001c0002a0001c0003a0002c0001others(33): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(40): Show | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0012others(275): Show | 290 | 348 | 0.8333 | 5 | c.404 others(20): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150704808 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01496.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(5): Show | a0001c0002t0001g0223a0001c0003t0001g0153a0001c0003t0001g0155others(12): Show | 15 | 348 | 0.0431 | 5 | c.-91 others(14): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 889 | chr3 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150704822 | A | ATTATG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0029a0003c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0002c0029t0001others(4): Show | a0001c0002t0001g0012a0001c0002t0001g0241a0001c0002t0001g0243others(43): Show | 48 | 348 | 0.1379 | 5 | c.-92 others(14): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 903 | chr3 | TogoVar | ||||||
ERLIN1_chr10_100145094_100191029 | 100159706 | T | TTTAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp1 others(177): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0017a0001c0001t0001g0067a0001c0001t0001g0096others(99): Show | 180 | 386 | 0.4663 | 5 | c.656 others(22): Show |
ERLIN1 | ENSG00000107566.14 | transcript | ENST00000421367.7 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
ERMAP_chr1_42812122_42849991 | 42831571 | T | TCTTTC | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0090a0001c0001t0002g0011a0001c0001t0002g0033others(9): Show | 16 | 386 | 0.0415 | 5 | c.433 others(20): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64059729 | C | CCCTCT | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG01981.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012a0001c0002t0001g0065a0001c0002t0001g0066others(1): Show | 4 | 234 | 0.0171 | 5 | c.120 others(22): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64086637 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02148.hp2 others(11): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0003g0151others(11): Show | 14 | 234 | 0.0598 | 5 | c.176 others(22): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | TogoVar | ||||||
ERN1_chr17_64034142_64135144 | 64106763 | C | CACACA | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02630.hp2 others(1): Show |
a0001a0003 | a0001c0002a0003c0020 | a0001c0002t0011a0001c0002t0012a0003c0020t0003 | a0001c0002t0011g0136a0001c0002t0011g0138a0001c0002t0012g0135others(1): Show | 4 | 234 | 0.0171 | 5 | c.55- others(20): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
ERN2_chr16_23685310_23718222 | 23695722 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp2 HG02293.hp1 others(5): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0003a0002c0003t0003 | a0001c0005t0003g0035a0001c0005t0003g0036a0001c0005t0003g0239others(3): Show | 8 | 412 | 0.0194 | 5 | c.161 others(22): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 14/21 | chr16 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236210653 | T | TCAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0007a0001c0003t0007a0001c0003t0018others(6): Show | a0001c0001t0007g0078a0001c0001t0007g0079a0001c0001t0007g0259others(24): Show | 28 | 396 | 0.0707 | 5 | c.*78 others(16): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 4447 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236213558 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01168.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0051a0001c0009t0005others(13): Show | a0001c0001t0003g0352a0001c0001t0051g0109a0001c0009t0005g0269others(21): Show | 25 | 396 | 0.0631 | 5 | c.*49 others(16): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1542 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236220027 | T | TAAAAA | intron_variant | MODIFIER | HG02486.hp1 HG06807.hp2 NA18906.hp2 |
a0003 | a0003c0004 | a0003c0004t0010a0003c0004t0011 | a0003c0004t0010g0177a0003c0004t0010g0202a0003c0004t0011g0116 | 3 | 396 | 0.0076 | 5 | c.134 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 15/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236222525 | C | CAATAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(262): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(259): Show | 265 | 396 | 0.6692 | 5 | c.112 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 13/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245581 | T | TATATA | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp2 HG03540.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0008a0001c0001t0037a0004c0006t0019 | a0001c0001t0008g0314a0001c0001t0037g0207a0001c0001t0037g0208others(1): Show | 4 | 396 | 0.0101 | 5 | c.432 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236257560 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG01952.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0050a0001c0001t0002g0043others(7): Show | 10 | 396 | 0.0253 | 5 | c.223 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236258162 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(110): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0004a0006c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(108): Show | 113 | 396 | 0.2854 | 5 | c.223 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236279504 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(225): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0020others(222): Show | 228 | 396 | 0.5758 | 5 | c.102 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236279515 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(5): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0013a0001c0001t0002g0011a0001c0001t0002g0101others(5): Show | 8 | 396 | 0.0202 | 5 | c.102 others(22): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007498 | T | TATATA | downstream_gene_variant | MODIFIER | HG02630.hp2 HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 3 | 402 | 0.0075 | 5 | c.*57 others(16): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4228 | chr1 | TogoVar |