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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERBIN_chr5_65921575_66087546 | 66018532 | T | TATTATAT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG03540.hp1 |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0001c0001t0006a0014c0018t0001 | a0001c0001t0001g0132 a0001c0001t0006g0154 a0014c0018t0001g0050 |
3 | 217 | 0.0138 | 9 | c.534 others(26): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1225449 | T | TAAAACAC others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG01884.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0086a0002c0002t0009a0002c0002t0010others(13): Show | a0001c0001t0086g0095 a0002c0002t0009g0149 a0002c0002t0009g0152 others(19): Show |
22 | 87 | 0.2529 | 9 | c.235 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1255621 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01109.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0006a0001c0001t0012a0001c0001t0042others(3): Show | a0001c0001t0006g0116 a0001c0001t0012g0112 a0001c0001t0042g0085 others(3): Show |
6 | 86 | 0.0698 | 9 | c.248 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1341069 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0010 a0001c0001t0003g0009 a0001c0001t0003g0035 others(2): Show |
5 | 14 | 0.3571 | 9 | c.278 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1356212 | A | AGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01517.hp1 HG02572.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0081a0001c0013t0045others(11): Show | a0001c0001t0001g0086 a0001c0001t0081g0102 a0001c0013t0045g0073 others(13): Show |
16 | 112 | 0.1429 | 9 | c.278 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1386651 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01175.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0069others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0004g0047 others(2): Show |
5 | 54 | 0.0926 | 9 | c.292 others(30): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1485199 | T | TTATCTTT others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03139.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0016g0105 |
3 | 160 | 0.0188 | 9 | c.321 others(28): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1493548 | A | ATATATAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0048 | a0001c0001t0001g0010 a0001c0001t0001g0086 a0001c0001t0012g0112 others(1): Show |
4 | 25 | 0.1600 | 9 | c.*33 others(20): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 19/19 | 3319 | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55676441 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01934.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0016 others(7): Show |
10 | 23 | 0.4348 | 9 | c.*39 others(26): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55729837 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0058 a0001c0001t0001g0060 others(5): Show |
8 | 14 | 0.5714 | 9 | c.271 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55879099 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01346.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0052 others(14): Show |
17 | 18 | 0.9444 | 9 | c.256 others(28): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56282678 | G | GTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0003 a0001c0002t0001g0015 a0001c0002t0001g0017 others(3): Show |
6 | 57 | 0.1053 | 9 | c.107 others(30): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 3/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56449050 | G | GGGCAACA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0004t0001 | a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0006g0026 others(2): Show |
5 | 72 | 0.0694 | 9 | c.-14 others(30): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
ERCC1_chr19_45402334_45428917 | 45409892 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01175.hp1 HG02258.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0004a0001c0001t0015a0001c0001t0034others(2): Show | a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0058 others(7): Show |
11 | 379 | 0.0290 | 9 | c.844 others(24): Show |
ERCC1 | ENSG00000012061.17 | transcript | ENST00000300853.8 | protein_coding | 9/9 | chr19 | TogoVar | |||||||
ERCC4_chr16_13915154_13957348 | 13937086 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(84): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0004others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0010others(6): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0015 others(36): Show |
87 | 275 | 0.3164 | 9 | c.181 others(26): Show |
ERCC4 | ENSG00000175595.16 | transcript | ENST00000311895.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ERCC8_chr5_60861454_60950070 | 60909243 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 NA18959.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0042 | a0001c0001t0004g0010 a0001c0001t0004g0239 a0001c0001t0004g0265 others(2): Show |
6 | 14 | 0.4286 | 9 | c.400 others(26): Show |
ERCC8 | ENSG00000049167.16 | transcript | ENST00000676185.1 | protein_coding | 4/11 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172829941 | C | CTTTCTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG01192.hp1 HG01884.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0277 others(15): Show |
18 | 202 | 0.0891 | 9 | c.-44 others(20): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 4309 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172909168 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02922.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0159 a0001c0001t0001g0248 others(3): Show |
6 | 140 | 0.0429 | 9 | c.156 others(24): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC3_chr20_35537078_35562634 | 35539368 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0049 a0001c0003t0001g0221 a0001c0003t0003g0220 |
4 | 358 | 0.0112 | 9 | c.-27 others(20): Show |
ERGIC3 | ENSG00000125991.21 | transcript | ENST00000348547.7 | protein_coding | 2709 | chr20 | TogoVar | |||||||
ERG_chr21_38375036_38503477 | 38468982 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00738.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0190 others(10): Show |
13 | 321 | 0.0405 | 9 | c.19- others(26): Show |
ERG | ENSG00000157554.20 | transcript | ENST00000288319.12 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
ERH_chr14_69375128_69403299 | 69379980 | T | TTCACATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(208): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(123): Show |
211 | 396 | 0.5328 | 9 | c.*55 others(18): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 147 | chr14 | TogoVar | |||||||
ERH_chr14_69375128_69403299 | 69387695 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(44): Show |
76 | 252 | 0.3016 | 9 | c.92- others(22): Show |
ERH | ENSG00000100632.11 | transcript | ENST00000557016.6 | protein_coding | 2/3 | chr14 | TogoVar | |||||||
ERI3_chr1_44216070_44360257 | 44239782 | A | AAGAGGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0133 a0001c0001t0001g0155 a0001c0001t0001g0156 others(1): Show |
4 | 338 | 0.0118 | 9 | c.931 others(26): Show |
ERI3 | ENSG00000117419.16 | transcript | ENST00000372257.7 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 663515 | C | CACAGGCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(273): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(263): Show |
276 | 374 | 0.7380 | 9 | c.*10 others(20): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 684 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 685952 | C | CTGGCCAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0078 a0001c0001t0001g0150 others(22): Show |
26 | 376 | 0.0691 | 9 | c.304 others(26): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH2_chr2_170765378_170803977 | 170791527 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001a0006a0009others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(49): Show |
145 | 241 | 0.6017 | 9 | c.105 others(28): Show |
ERICH2 | ENSG00000204334.8 | transcript | ENST00000697325.1 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERICH6_chr3_150654885_150708920 | 150658031 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01346.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0015others(7): Show | a0001c0001t0001a0001c0014t0001a0001c0015t0001others(7): Show | a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0114 others(26): Show |
30 | 205 | 0.1463 | 9 | c.*18 others(20): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1853 | chr3 | TogoVar | |||||||
ERICH6_chr3_150654885_150708920 | 150703735 | A | ACCTCCTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp2 HG02145.hp2 HG02258.hp2 others(13): Show |
a0004 | a0004c0011a0004c0012a0004c0013others(1): Show | a0004c0011t0001a0004c0011t0002a0004c0012t0001others(3): Show | a0004c0011t0001g0311 a0004c0011t0001g0312 a0004c0011t0001g0323 others(13): Show |
16 | 337 | 0.0475 | 9 | c.155 others(16): Show |
p.Glu others(11): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 1/14 | 185/2021 | 163/1992 | 55/663 | chr3 | TogoVar | |||
ERMP1_chr9_5779572_5838117 | 5833080 | C | CCGCCGCC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01928.hp1 |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0040 a0001c0002t0013g0274 |
3 | 376 | 0.0080 | 9 | c.-62 others(16): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1/15 | 54 | chr9 | TogoVar | ||||||
ERN2_chr16_23685310_23718222 | 23697176 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18942.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0135 |
4 | 203 | 0.0197 | 9 | c.152 others(28): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 13/21 | chr16 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236247926 | A | ATCACTTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(193): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(184): Show |
196 | 394 | 0.4975 | 9 | c.431 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236258149 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp2 HG01243.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0026others(10): Show | a0001c0001t0003g0279 a0001c0001t0003g0287 a0001c0001t0003g0289 others(27): Show |
31 | 156 | 0.1987 | 9 | c.223 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236261941 | T | TCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02723.hp1 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0013a0003c0004t0029a0003c0004t0042 | a0003c0004t0013g0116 a0003c0004t0013g0124 a0003c0004t0013g0125 others(2): Show |
6 | 216 | 0.0278 | 9 | c.222 others(26): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
ERP29_chr12_112008426_112028449 | 112021515 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01433.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0041 a0001c0002t0001g0063 others(1): Show |
18 | 141 | 0.1277 | 9 | c.284 others(24): Show |
ERP29 | ENSG00000089248.7 | transcript | ENST00000261735.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100024152 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 |
3 | 123 | 0.0244 | 9 | c.287 others(26): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERP44_chr9_99974185_100104000 | 100043291 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00642.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0126 others(10): Show |
13 | 77 | 0.1688 | 9 | c.286 others(26): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007497 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0003g0010 a0001c0001t0003g0040 others(1): Show |
8 | 314 | 0.0255 | 9 | c.*57 others(20): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4229 | chr1 | TogoVar | |||||||
ERRFI1_chr1_8006727_8031309 | 8007498 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 NA18951.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 others(2): Show |
5 | 373 | 0.0134 | 9 | c.*57 others(20): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4228 | chr1 | TogoVar | |||||||
ERVH48-1_chr21_42911803_42930630 | 42928568 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 NA18941.hp1 NA18945.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0002 a0001c0001t0012g0087 |
10 | 203 | 0.0493 | 9 | c.-35 others(20): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 2939 | chr21 | TogoVar | |||||||
ERVMER34-1_chr4_52737553_52756425 | 52741154 | G | GGAAAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp1 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0005a0002c0006 | a0001c0001t0011a0002c0005t0002a0002c0006t0002 | a0001c0001t0011g0028 a0002c0005t0002g0033 a0002c0006t0002g0009 |
3 | 116 | 0.0259 | 9 | c.*26 others(20): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 1398 | chr4 | TogoVar | |||||||
ESF1_chr20_13709325_13789919 | 13716804 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01975.hp2 HG02004.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0209 a0001c0001t0001g0324 a0001c0001t0001g0325 others(4): Show |
7 | 15 | 0.4667 | 9 | c.226 others(26): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238119435 | G | GGTGAATG others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02559.hp1 NA19043.hp1 others(1): Show |
a0015a0040a0046 | a0015c0120a0015c0131a0040c0075others(1): Show | a0015c0120t0003a0015c0131t0003a0040c0075t0011others(1): Show | a0015c0120t0003g0161 a0015c0131t0003g0162 a0040c0075t0011g0197 others(1): Show |
4 | 406 | 0.0099 | 9 | c.987 others(26): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 152077210 | A | ACAGCTCG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(81): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0063 others(80): Show |
84 | 248 | 0.3387 | 9 | c.136 others(30): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64224181 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01069.hp2 others(14): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(7): Show | a0001c0001t0004g0007 a0001c0001t0004g0261 a0001c0001t0004g0304 others(13): Show |
17 | 198 | 0.0859 | 9 | c.*89 others(20): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 4135 | chr14 | TogoVar | |||||||
ESRP1_chr8_94636174_94712466 | 94682933 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 NA20300.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0193 a0001c0001t0001g0364 a0001c0003t0001g0338 |
3 | 319 | 0.0094 | 9 | c.182 others(28): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | |||||||
ESRRB_chr14_76371137_76506837 | 76460709 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0017 others(50): Show |
53 | 259 | 0.2046 | 9 | c.461 others(26): Show |
ESRRB | ENSG00000119715.15 | transcript | ENST00000644823.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ESRRG_chr1_216498251_216728429 | 216547253 | T | TTGATGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0097 a0001c0001t0001g0199 a0001c0001t0001g0204 others(70): Show |
73 | 220 | 0.3318 | 9 | c.862 others(28): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216625423 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01433.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 others(43): Show |
46 | 134 | 0.3433 | 9 | c.589 others(28): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158736163 | G | GAAACCCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(161): Show |
a0002a0003a0007others(1): Show | a0002c0002a0002c0004a0002c0009others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(31): Show | a0002c0002t0001g0134 a0002c0002t0002g0001 a0002c0002t0002g0014 others(159): Show |
164 | 368 | 0.4457 | 9 | c.240 others(26): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 20/22 | chr7 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158738312 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01175.hp1 others(6): Show |
a0002a0003 | a0002c0004a0003c0003a0003c0016 | a0002c0004t0003a0002c0004t0038a0003c0003t0004others(3): Show | a0002c0004t0003g0154 a0002c0004t0003g0156 a0002c0004t0003g0165 others(6): Show |
9 | 295 | 0.0305 | 9 | c.226 others(26): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 19/22 | chr7 | TogoVar |