| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0308 | 1 | 358 | 0.0028 | 46 | c.26- others(59): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EML4_chr2_42164353_42337548 | 42306484 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 358 | 0.0028 | 46 | c.196 others(65): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EML5_chr14_88607431_88797953 | 88796851 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 NA18956.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0176a0001c0001t0005g0177a0001c0001t0006g0188 | 3 | 332 | 0.0090 | 46 | c.-43 others(57): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3899 | chr14 | TogoVar | ||||||
| EML5_chr14_88607431_88797953 | 88796883 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0020 | a0001c0001t0025g0191a0001c0003t0020g0173 | 2 | 332 | 0.0060 | 46 | c.-43 others(57): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3931 | chr14 | TogoVar | ||||||
| ENPP6_chr4_184083706_184222873 | 184220398 | A | AGATGGGA others(39): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(28): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0010 | a0001c0002t0002a0001c0002t0005a0002c0001t0001others(2): Show | a0001c0002t0002g0007a0001c0002t0002g0029a0001c0002t0002g0035others(26): Show | 31 | 320 | 0.0969 | 46 | c.-26 others(57): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2526 | chr4 | TogoVar | ||||||
| ENPP6_chr4_184083706_184222873 | 184220450 | G | GAAGAAGG others(39): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01433.hp2 HG01993.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0003a0002c0001t0001others(1): Show | a0001c0002t0002g0117a0001c0003t0003g0113a0001c0003t0003g0114others(4): Show | 7 | 320 | 0.0219 | 46 | c.-26 others(57): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2578 | chr4 | TogoVar | ||||||
| ENPP7_chr17_79725943_79747219 | 79732121 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0101 | 1 | 430 | 0.0023 | 46 | c.253 others(61): 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(39): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0104 | 1 | 430 | 0.0023 | 46 | c.253 others(61): 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(39): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01168.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0005 | a0001c0003t0001a0002c0001t0001a0003c0005t0001 | a0001c0003t0001g0181a0002c0001t0001g0178a0002c0001t0001g0179others(2): Show | 5 | 430 | 0.0116 | 46 | c.253 others(61): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ENTR1_chr9_136396922_136415614 | 136403322 | G | GGGGGAGA others(39): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 412 | 0.0024 | 46 | c.120 others(63): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| ENTR1_chr9_136396922_136415614 | 136403464 | G | GGGGAAGA others(39): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0015 | a0015c0018 | a0015c0018t0019 | a0015c0018t0019g0079 | 1 | 412 | 0.0024 | 46 | c.120 others(63): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| ENTR1_chr9_136396922_136415614 | 136403464 | G | GGGGGAGA others(39): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 412 | 0.0024 | 46 | c.120 others(63): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 28935438 | A | AACACACA others(39): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19005.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0265a0001c0003t0002g0218 | 2 | 312 | 0.0064 | 46 | c.-8+ others(63): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 312 | 0.0032 | 46 | c.-8+ others(63): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EPB41_chr1_28909569_29125041 | 28935467 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0238 | 1 | 312 | 0.0032 | 46 | c.-8+ others(63): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EPDR1_chr7_37915640_37956936 | 37956243 | A | AGGAGGTG others(39): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(303): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(283): Show | 306 | 448 | 0.6830 | 46 | c.*58 others(57): Show |
EPDR1 | ENSG00000086289.13 | transcript | ENST00000199448.9 | protein_coding | 4308 | chr7 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143878404 | G | GCCGCACC others(39): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0186 | a0186c0344 | a0186c0344t0001 | a0186c0344t0001g0275 | 1 | 424 | 0.0024 | 46 | c.-46 others(59): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| EPRS1_chr1_219963600_220051505 | 219971795 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253a0001c0001t0002g0304 | 2 | 358 | 0.0056 | 46 | c.432 others(63): Show |
EPRS1 | ENSG00000136628.18 | transcript | ENST00000366923.8 | protein_coding | 30/31 | chr1 | TogoVar | ||||||
| EPS8L2_chr11_701231_732727 | 720978 | G | GCCCGGCA others(39): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0335 | 1 | 406 | 0.0025 | 46 | c.557 others(59): Show |
EPS8L2 | ENSG00000177106.17 | transcript | ENST00000318562.13 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ERBB4_chr2_211370717_212543802 | 212374023 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0007 | 1 | 56 | 0.0179 | 46 | c.82+ others(65): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | ||||||
| ERBIN_chr5_65921575_66087546 | 65940396 | A | ACCCCATC others(39): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02723.hp2 others(8): Show |
a0004 | a0004c0005a0004c0014a0004c0017 | a0004c0005t0004a0004c0005t0025a0004c0014t0004others(1): Show | a0004c0005t0004g0013a0004c0005t0004g0014a0004c0005t0004g0015others(8): Show | 11 | 306 | 0.0360 | 46 | c.-58 others(65): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1121839 | C | CTCTATCT others(39): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02145.hp1 HG02615.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0012others(1): Show | a0001c0001t0049a0001c0001t0138a0002c0002t0035others(4): Show | a0001c0001t0049g0157a0001c0001t0138g0095a0002c0002t0035g0143others(4): Show | 7 | 162 | 0.0432 | 46 | c.156 others(65): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1121840 | T | TCTATCTC others(39): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 162 | 0.0062 | 46 | c.156 others(65): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | chr12 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1122303 | C | CTCTATCT others(39): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 162 | 0.0062 | 46 | c.156 others(65): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1122385 | A | ATCTATCT others(39): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0012 | a0007c0012t0073 | a0007c0012t0073g0067 | 1 | 162 | 0.0062 | 46 | c.156 others(65): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1122445 | A | ATCTCTAT others(39): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0108 | a0001c0001t0050g0144a0001c0001t0108g0064 | 2 | 162 | 0.0124 | 46 | c.156 others(65): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| EREG_chr4_74360145_74393749 | 74390806 | T | TAAAAAAA others(39): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0227 | 1 | 358 | 0.0028 | 46 | c.*59 others(57): Show |
EREG | ENSG00000124882.4 | transcript | ENST00000244869.3 | protein_coding | 2058 | chr4 | TogoVar | ||||||
| ERFL_chr19_41902704_41933449 | 41914611 | T | TCCCCCTC others(39): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150a0001c0002t0002g0190 | 2 | 330 | 0.0061 | 46 | c.-13 others(63): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ERGIC1_chr5_172829251_172957683 | 172908323 | A | AGAGGGGA others(39): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033a0001c0001t0004g0177 | 2 | 334 | 0.0060 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0314 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908328 | A | AGGGGGGG others(39): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908341 | G | GGGGAGGG others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908341 | G | GGGGAGGG others(39): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ERGIC1_chr5_172829251_172957683 | 172908342 | G | GGGAGGGG others(39): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
| ERGIC1_chr5_172829251_172957683 | 172908342 | G | GGGAGGGG others(39): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
| ERGIC1_chr5_172829251_172957683 | 172908342 | G | GGGAGGGG others(39): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 334 | 0.0030 | 46 | c.156 others(63): Show |
ERGIC1 | ENSG00000113719.17 | transcript | ENST00000393784.8 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659281 | C | CCATCCTG others(39): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0078 | 1 | 378 | 0.0027 | 46 | c.*53 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4918 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659455 | T | TGTGCACT others(39): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01515.hp2 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143a0001c0001t0002g0289a0001c0001t0002g0297 | 3 | 378 | 0.0079 | 46 | c.*51 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4744 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(39): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 | 1 | 378 | 0.0027 | 46 | c.*49 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(39): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0078 | 1 | 378 | 0.0027 | 46 | c.*49 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659731 | T | TGTGCACT others(39): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0228 | 2 | 378 | 0.0053 | 46 | c.*48 others(57): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4468 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 695823 | T | TTCCTCTC others(39): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0237 | 1 | 378 | 0.0027 | 46 | c.170 others(63): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700462 | G | GCGCACAG others(39): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02723.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0144a0001c0002t0002g0339a0001c0002t0002g0340others(1): Show | 4 | 378 | 0.0106 | 46 | c.170 others(63): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH5_chr8_98059568_98098609 | 98073436 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 442 | 0.0045 | 46 | c.58+ others(61): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |