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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL2_chr6_10975759_11049305 | 10978304 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 339 | 0.0029 | 17 | c.*54 others(28): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2454 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978306 | T | TATATATA others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017 | a0001c0001t0001g0057 a0001c0001t0006g0003 a0001c0001t0006g0020 others(2): Show |
7 | 229 | 0.0306 | 17 | c.*54 others(28): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2452 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0198 | 1 | 75 | 0.0133 | 17 | c.3+1 others(32): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11043471 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp2 NA18906.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0029a0001c0002t0002 | a0001c0001t0008g0276 a0001c0001t0008g0277 a0001c0001t0029g0341 others(3): Show |
6 | 247 | 0.0243 | 17 | c.3+7 others(28): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11043475 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0002t0001g0279 others(3): Show |
6 | 378 | 0.0159 | 17 | c.3+7 others(28): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110042850 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 HG03669.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0004g0262 a0001c0001t0005g0231 a0001c0001t0014g0025 others(1): Show |
4 | 12 | 0.3333 | 17 | c.*84 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2995 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110044270 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0036 | a0001c0001t0006g0013 a0001c0001t0006g0078 a0001c0001t0006g0157 others(1): Show |
4 | 271 | 0.0148 | 17 | c.*70 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1575 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084227 | T | TATCATAT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0074 | 1 | 297 | 0.0034 | 17 | c.221 others(36): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0039 | 1 | 233 | 0.0043 | 17 | c.221 others(36): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084589 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18612.hp1 NA18947.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0234 a0001c0001t0002g0066 others(3): Show |
6 | 311 | 0.0193 | 17 | c.221 others(36): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110090600 | C | CTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0034 | a0001c0001t0001g0077 a0001c0001t0001g0217 a0001c0001t0001g0331 others(2): Show |
5 | 167 | 0.0299 | 17 | c.221 others(36): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110090600 | C | CTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01255.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0251 a0001c0001t0001g0302 a0001c0001t0005g0016 others(11): Show |
14 | 176 | 0.0795 | 17 | c.221 others(36): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110097305 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19007.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0040 | a0001c0001t0005g0231 a0001c0001t0019g0318 a0001c0001t0040g0230 |
3 | 134 | 0.0224 | 17 | c.221 others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0247 | 1 | 55 | 0.0182 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 55 | 0.0182 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 55 | 0.0182 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012 | a0001c0001t0002g0139 a0001c0001t0011g0170 a0001c0001t0011g0171 others(1): Show |
4 | 58 | 0.0690 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031 | a0001c0001t0001g0010 a0001c0001t0031g0190 |
2 | 56 | 0.0357 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 55 | 0.0182 | 17 | c.90- others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0003 | 1 | 225 | 0.0044 | 17 | c.89+ others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 225 | 0.0044 | 17 | c.89+ others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 225 | 0.0044 | 17 | c.89+ others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 225 | 0.0044 | 17 | c.89+ others(34): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110197200 | G | GCGTTGGG others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0026 | 1 | 336 | 0.0030 | 17 | c.89+ others(32): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60817679 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(99): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0040 others(94): Show |
102 | 250 | 0.4080 | 17 | c.-85 others(36): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108900756 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00738.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0006 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 others(15): Show |
24 | 142 | 0.1690 | 17 | c.201 others(34): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31533368 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02523.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0077 a0001c0001t0005g0006 a0001c0001t0005g0007 others(6): Show |
9 | 39 | 0.2308 | 17 | c.260 others(34): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48029837 | A | AGAGAGAG others(10): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 379 | 0.0026 | 17 | c.*48 others(28): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4684 | chr19 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34081709 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 403 | 0.0025 | 17 | c.*26 others(28): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2307 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093823 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 247 | 0.0040 | 17 | c.356 others(34): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927791 | T | TCGGGGGT others(10): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0200 | 1 | 286 | 0.0035 | 17 | c.190 others(36): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99935781 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0005 | 1 | 116 | 0.0086 | 17 | c.191 others(34): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03831.hp2 HG04199.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002a0003c0003t0004others(2): Show | a0001c0001t0002g0225 a0001c0001t0002g0281 a0003c0003t0002g0205 others(6): Show |
9 | 55 | 0.1636 | 17 | c.26- others(30): 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(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(21): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0017 others(21): Show |
24 | 113 | 0.2124 | 17 | c.196 others(36): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88647687 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005 | 1 | 62 | 0.0161 | 17 | c.402 others(34): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 28/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88759685 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0002a0001c0003t0004others(2): Show | a0001c0001t0014g0006 a0001c0003t0002g0012 a0001c0003t0004g0310 others(4): Show |
7 | 96 | 0.0729 | 17 | c.198 others(34): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54797164 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG03195.hp1 HG03579.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0048others(4): Show | a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0001g0229 others(6): Show |
9 | 126 | 0.0714 | 17 | c.198 others(36): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54797177 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0007 | a0007c0031 | a0007c0031t0053 | a0007c0031t0053g0165 | 1 | 254 | 0.0039 | 17 | c.198 others(36): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54846923 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01071.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0011others(11): Show | a0001c0001t0001g0152 a0001c0001t0003g0105 a0001c0002t0011g0108 others(24): Show |
27 | 113 | 0.2389 | 17 | c.105 others(34): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 8/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10574653 | A | ACCATTCT others(10): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0291 | 1 | 400 | 0.0025 | 17 | c.-61 others(34): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMP2_chr16_10523422_10585598 | 10575237 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0367 |
2 | 4 | 0.5000 | 17 | c.-61 others(34): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
EMP3_chr19_48320552_48335553 | 48331198 | C | CTCTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 2 | 162 | 0.0123 | 17 | c.*72 others(26): Show |
EMP3 | ENSG00000142227.11 | transcript | ENST00000270221.11 | protein_coding | 646 | chr19 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127843755 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 125 | 0.0080 | 17 | c.68- others(30): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127843756 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0002 a0001c0006t0001g0057 a0001c0006t0001g0058 |
3 | 295 | 0.0102 | 17 | c.68- others(30): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 1/14 | chr9 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667105 | G | GGTGATGG others(10): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0320 | 1 | 416 | 0.0024 | 17 | c.*71 others(28): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3212 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667992 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG02109.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0004 | a0001c0001t0002g0029 a0001c0006t0004g0004 a0001c0006t0004g0150 others(1): Show |
4 | 136 | 0.0294 | 17 | c.*62 others(28): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2325 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATATTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02155.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0130 a0001c0002t0001g0030 |
2 | 9 | 0.2222 | 17 | c.161 others(38): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43247883 | A | ATATTTTT others(10): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 8 | 0.1250 | 17 | c.161 others(38): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 14/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43300874 | A | AAAATTTC others(10): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0016a0001c0003t0011a0001c0003t0013others(1): Show | a0001c0002t0016g0049 a0001c0003t0011g0163 a0001c0003t0011g0171 others(3): Show |
6 | 186 | 0.0323 | 17 | c.126 others(36): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 11/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43417244 | G | GAGAGGGA others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0011 | a0003c0011t0004 | a0003c0011t0004g0119 | 1 | 186 | 0.0054 | 17 | c.-74 others(34): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar |