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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGCGGTG others(43): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 72 | 0.0139 | 50 | c.-47 others(61): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411193 | G | GGGGCGGG others(43): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0153 a0001c0001t0008g0161 |
2 | 73 | 0.0274 | 50 | c.-47 others(61): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4579 | chr20 | TogoVar | |||||||
ELMO2_chr20_46361050_46411615 | 46411195 | C | CGGGTGTG others(43): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 a0001c0001t0002g0183 |
2 | 9 | 0.2222 | 50 | c.-47 others(61): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 4581 | chr20 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978305 | A | ATATATAT others(43): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 287 | 0.0035 | 50 | c.*54 others(61): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2453 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084169 | A | ATATATGA others(43): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0074 | a0001c0001t0008g0019 a0001c0001t0074g0056 |
2 | 297 | 0.0067 | 50 | c.221 others(69): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 55 | 0.0182 | 50 | c.90- others(67): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 55 | 0.0182 | 50 | c.90- others(67): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
EMC8_chr16_85773624_85804544 | 85795075 | T | TATCCCAT others(43): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0115 a0001c0001t0019g0116 |
2 | 406 | 0.0049 | 50 | c.231 others(67): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMILIN2_chr18_2842006_2921003 | 2858573 | G | GTATATAT others(43): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 440 | 0.0023 | 50 | c.257 others(69): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54882873 | A | AAAAAAAA others(43): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 | 1 | 222 | 0.0045 | 50 | c.243 others(69): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76446317 | G | GTGTGTAT others(43): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0286 a0001c0001t0014g0287 |
2 | 358 | 0.0056 | 50 | c.-39 others(65): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76446319 | G | GTGTATAT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0351 a0001c0001t0002g0282 |
2 | 296 | 0.0068 | 50 | c.-39 others(65): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 | 1 | 8 | 0.1250 | 50 | c.161 others(71): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(43): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0105 | 1 | 242 | 0.0041 | 50 | c.253 others(65): 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(43): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18975.hp2 NA19080.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0022 a0002c0001t0002g0119 |
4 | 245 | 0.0163 | 50 | c.253 others(65): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENTHD1_chr22_39738044_39898760 | 39844025 | G | GTGTACAA others(43): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 215 | 0.0047 | 50 | c.593 others(67): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
EOLA2_chrX_149927197_149943491 | 149933167 | A | AGGGGAGG others(43): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 329 | 0.0030 | 50 | c.254 others(65): Show |
EOLA2 | ENSG00000197021.9 | transcript | ENST00000370406.8 | protein_coding | 4/4 | chrX | TogoVar | |||||||
EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(43): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 152 | 0.0066 | 50 | c.-8+ others(67): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPC2_chr2_148639751_148792569 | 148775658 | A | AAATTAAA others(43): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02135.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(17): Show |
20 | 136 | 0.1471 | 50 | c.172 others(69): Show |
EPC2 | ENSG00000135999.12 | transcript | ENST00000258484.11 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPDR1_chr7_37915640_37956936 | 37937985 | A | ATTTTTTT others(43): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0071 | 1 | 5 | 0.2000 | 50 | c.270 others(69): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EPHA5_chr4_65314567_65675489 | 65522316 | G | GTGTGTGT others(43): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0111 | 1 | 132 | 0.0076 | 50 | c.911 others(69): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar | |||||||
EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0276 |
2 | 198 | 0.0101 | 50 | c.432 others(67): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212191677 | T | TGTGTTAT others(43): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0043 | 1 | 49 | 0.0204 | 50 | c.83- others(67): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65940644 | T | TGGGGGGT others(43): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 137 | 0.0073 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65940644 | T | TGGGGGGT others(43): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(141): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0020a0001c0021others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(140): Show |
144 | 280 | 0.5143 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65940644 | T | TGGGGGGT others(43): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02896.hp1 |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0007 | a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0027 |
3 | 139 | 0.0216 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65940644 | T | TGGGGGGT others(43): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03195.hp2 others(1): Show |
a0007a0008 | a0007c0011a0008c0012 | a0007c0011t0011a0008c0012t0011 | a0007c0011t0011g0025 a0007c0011t0011g0026 a0008c0012t0011g0023 others(1): Show |
4 | 140 | 0.0286 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65940645 | G | GGGGGGTC others(43): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0227 | 1 | 304 | 0.0033 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65940655 | C | CCCCCGGC others(43): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19030.hp1 NA19043.hp1 others(1): Show |
a0001a0015 | a0001c0001a0015c0013 | a0001c0001t0001a0015c0013t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show |
4 | 304 | 0.0132 | 50 | c.-58 others(69): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 66018548 | A | ATATATTA others(43): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01257.hp1 others(27): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005a0002c0003t0008 | a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 others(27): Show |
30 | 292 | 0.1027 | 50 | c.534 others(67): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121779 | A | ATCTCTAT others(43): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0002 | a0001c0001t0003g0020 a0001c0003t0002g0004 |
2 | 85 | 0.0235 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121846 | T | TATCTCTA others(43): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 159 | 0.0063 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121889 | A | ATCTCTAT others(43): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG02155.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0067a0001c0001t0075others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0067g0132 others(6): Show |
9 | 122 | 0.0738 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1121895 | A | ATCTCTAT others(43): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0145 | 1 | 138 | 0.0072 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122270 | T | TATCTCTA others(43): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG01433.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003 | a0003c0004t0001g0063 a0003c0004t0003g0053 a0003c0004t0003g0056 |
3 | 159 | 0.0189 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1122438 | T | TATCTCTA others(43): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0059 | 1 | 159 | 0.0063 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | chr12 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1122601 | G | GCCTATTG others(43): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0007 | a0002c0007t0020 | a0002c0007t0020g0071 | 1 | 121 | 0.0083 | 50 | c.156 others(69): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | chr12 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55628196 | G | GATGTCAA others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(32): Show |
35 | 72 | 0.4861 | 50 | c.*39 others(69): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 17/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56040580 | C | CATATACA others(43): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0003g0070 |
2 | 35 | 0.0571 | 50 | c.164 others(71): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56040580 | C | CATATACA others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0061 others(27): Show |
30 | 63 | 0.4762 | 50 | c.164 others(71): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908323 | A | AGAGGGGA others(43): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 309 | 0.0032 | 50 | c.156 others(67): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERGIC1_chr5_172829251_172957683 | 172908335 | G | GGGGAGGG others(43): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 331 | 0.0030 | 50 | c.156 others(67): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERGIC1_chr5_172829251_172957683 | 172908344 | G | GAGGGGGG others(43): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 211 | 0.0047 | 50 | c.156 others(67): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
ERICH3_chr1_74563123_74678792 | 74671246 | T | TTCTGCTT others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03098.hp1 |
a0021a0024 | a0021c0024a0024c0022 | a0021c0024t0001a0024c0022t0001 | a0021c0024t0001g0018 a0024c0022t0001g0121 |
2 | 288 | 0.0069 | 50 | c.23+ others(65): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 1/14 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239809 | G | GTGTGTAT others(43): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0051 others(30): Show |
35 | 315 | 0.1111 | 50 | c.506 others(67): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236239877 | A | ATATATGT others(43): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 202 | 0.0050 | 50 | c.506 others(67): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 6/15 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216569190 | G | GGGAAGGG others(43): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp1 HG02735.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0190 a0001c0001t0003g0238 a0001c0002t0002g0160 |
3 | 74 | 0.0405 | 50 | c.590 others(67): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216569190 | G | GGGAAGGG others(43): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 72 | 0.0139 | 50 | c.590 others(67): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESRRG_chr1_216498251_216728429 | 216569237 | G | GAAAGGAA others(43): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0207 | 1 | 248 | 0.0040 | 50 | c.590 others(67): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158782419 | A | AGAACAAA others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0179 | 1 | 368 | 0.0027 | 50 | c.747 others(67): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 6/22 | chr7 | TogoVar |