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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOVL6_chr4_110040846_110203615 | 110084394 | G | GATATATA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0251 a0001c0001t0004g0077 a0001c0001t0004g0217 others(19): Show |
22 | 338 | 0.0651 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084394 | G | GATATGTA others(4): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 338 | 0.0030 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084586 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0291 | 1 | 338 | 0.0030 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0078 a0001c0001t0007g0158 |
2 | 338 | 0.0059 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084589 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0247 | 1 | 338 | 0.0030 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110094443 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01928.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0293 |
2 | 338 | 0.0059 | 11 | c.221 others(30): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110097305 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0161 others(12): Show |
15 | 338 | 0.0444 | 11 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117881 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 338 | 0.0030 | 11 | c.90- others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117901 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 338 | 0.0030 | 11 | c.90- others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0029 | a0001c0001t0005g0325 a0001c0001t0029g0264 a0001c0001t0029g0265 |
3 | 338 | 0.0089 | 11 | c.90- others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110117903 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03225.hp1 NA18612.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0144 a0001c0001t0001g0246 a0001c0001t0001g0287 others(3): Show |
6 | 338 | 0.0178 | 11 | c.90- others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0331 a0001c0001t0026g0216 a0001c0001t0026g0330 |
3 | 338 | 0.0089 | 11 | c.89+ others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0129 a0001c0001t0002g0136 a0001c0001t0011g0151 others(3): Show |
6 | 338 | 0.0178 | 11 | c.89+ others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0001g0156 a0001c0001t0001g0226 a0001c0001t0007g0250 others(10): Show |
13 | 338 | 0.0385 | 11 | c.89+ others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158657 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0022a0001c0001t0028others(4): Show | a0001c0001t0021g0069 a0001c0001t0022g0105 a0001c0001t0028g0247 others(4): Show |
7 | 338 | 0.0207 | 11 | c.89+ others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110158658 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014a0001c0001t0015others(1): Show | a0001c0001t0007g0013 a0001c0001t0014g0111 a0001c0001t0015g0037 others(1): Show |
4 | 338 | 0.0118 | 11 | c.89+ others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60837315 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 258 | 0.0039 | 11 | c.-86 others(28): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36163273 | G | GTGTGTGT others(4): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0054 | a0001c0001t0001g0105 a0001c0001t0054g0072 |
2 | 378 | 0.0053 | 11 | c.176 others(30): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 17/21 | chr18 | TogoVar | |||||||
ELP2_chr18_36124899_36185557 | 36166319 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0271 | 1 | 378 | 0.0027 | 11 | c.195 others(28): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELP3_chr8_28088139_28196153 | 28090482 | G | GTGTGTGT others(4): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 | 1 | 398 | 0.0025 | 11 | c.-27 others(22): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 2656 | chr8 | TogoVar | |||||||
ELP4_chr11_31504767_31795324 | 31533368 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG02896.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(3): Show | a0001c0001t0001g0076 a0001c0001t0001g0088 a0001c0001t0007g0089 others(5): Show |
8 | 270 | 0.0296 | 11 | c.260 others(28): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31623378 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 270 | 0.0037 | 11 | c.654 others(28): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48028493 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 388 | 0.0026 | 11 | c.*35 others(22): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 3340 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50484018 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01168.hp2 HG01169.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0008a0001c0001t0021a0001c0001t0043others(5): Show | a0001c0001t0008g0001 a0001c0001t0021g0001 a0001c0001t0043g0001 others(7): Show |
15 | 352 | 0.0426 | 11 | c.*17 others(22): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 7/7 | 1787 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EMC1_chr1_19210660_19256524 | 19216233 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01255.hp1 HG01346.hp2 others(24): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0003c0007others(1): Show | a0001c0001t0004a0001c0001t0010a0003c0003t0004others(3): Show | a0001c0001t0004g0061 a0001c0001t0010g0034 a0001c0001t0010g0074 others(18): Show |
27 | 350 | 0.0771 | 11 | c.*30 others(22): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 23/23 | 3069 | chr1 | TogoVar | ||||||
EMC1_chr1_19210660_19256524 | 19245627 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02280.hp1 HG02647.hp2 others(8): Show |
a0003 | a0003c0003a0003c0007 | a0003c0003t0001a0003c0007t0007 | a0003c0003t0001g0015 a0003c0007t0007g0008 a0003c0007t0007g0043 others(4): Show |
11 | 350 | 0.0314 | 11 | c.96- others(24): Show |
EMC1 | ENSG00000127463.16 | transcript | ENST00000477853.6 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
EMC2_chr8_108438624_108494196 | 108466442 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0244 | 1 | 364 | 0.0028 | 11 | c.364 others(28): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EMC3_chr3_9957682_9991841 | 9978145 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0207 |
2 | 322 | 0.0062 | 11 | c.156 others(26): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34092293 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0284 |
2 | 410 | 0.0049 | 11 | c.357 others(28): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34093823 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00733.hp2 HG00735.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0069 a0001c0001t0001g0194 a0001c0001t0001g0274 others(7): Show |
10 | 410 | 0.0244 | 11 | c.356 others(28): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 2/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34097039 | C | CTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 410 | 0.0024 | 11 | c.237 others(28): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
EMC7_chr15_34079017_34106862 | 34097039 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00642.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 others(38): Show |
49 | 410 | 0.1195 | 11 | c.237 others(28): Show |
EMC7 | ENSG00000134153.10 | transcript | ENST00000256545.9 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
EMC9_chr14_24133965_24146591 | 24135103 | C | CACACACA others(4): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 422 | 0.0024 | 11 | c.*39 others(22): Show |
EMC9 | ENSG00000100908.14 | transcript | ENST00000216799.9 | protein_coding | 3861 | chr14 | TogoVar | |||||||
EMC9_chr14_24133965_24146591 | 24135105 | A | ACACACAC others(4): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 11 | c.*39 others(22): Show |
EMC9 | ENSG00000100908.14 | transcript | ENST00000216799.9 | protein_coding | 3859 | chr14 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100422817 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01255.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0033a0001c0001t0034others(2): Show | a0001c0001t0006g0006 a0001c0001t0006g0128 a0001c0001t0006g0132 others(13): Show |
16 | 262 | 0.0611 | 11 | c.568 others(26): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100473365 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 262 | 0.0038 | 11 | c.259 others(28): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154375871 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 others(3): Show |
77 | 284 | 0.2711 | 11 | c.-36 others(22): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | |||||||
EMD_chrX_154374295_154386523 | 154383479 | T | TCACACAT others(4): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | 11 | c.*22 others(22): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 1957 | chrX | TogoVar | |||||||
EME2_chr16_1767810_1786702 | 1782318 | G | GCCTGGCT others(4): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0001 | 1 | 430 | 0.0023 | 11 | c.*60 others(22): Show |
EME2 | ENSG00000197774.14 | transcript | ENST00000568449.7 | protein_coding | 617 | chr16 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29250733 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 348 | 0.0029 | 11 | c.112 others(30): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2900679 | A | ACAAGCGA others(4): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0186 | 1 | 452 | 0.0022 | 11 | c.236 others(30): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 4/7 | chr18 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99790865 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG02280.hp2 HG02698.hp2 others(15): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0005others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(8): Show | a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0010 others(15): Show |
18 | 288 | 0.0625 | 11 | c.-26 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 2547 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99796231 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0148 | 1 | 288 | 0.0035 | 11 | c.67+ others(26): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99888823 | G | GGCTCCCC others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02486.hp2 others(12): Show |
a0001a0004 | a0001c0003a0004c0008 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0010 others(12): Show |
15 | 288 | 0.0521 | 11 | c.519 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4/21 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99910721 | A | AGCTAATT others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0018 | a0001c0007t0002g0005 a0001c0007t0018g0241 |
2 | 288 | 0.0069 | 11 | c.133 others(28): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927954 | G | GGTGGAGG others(4): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0156 | 1 | 288 | 0.0035 | 11 | c.190 others(30): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | |||||||
EML2_chr19_45604400_45644397 | 45631884 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18980.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0023 | 2 | 382 | 0.0052 | 11 | c.510 others(26): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 6/18 | chr19 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42245094 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01978.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0003g0119 |
3 | 358 | 0.0084 | 11 | c.26- others(24): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88608654 | A | ATTTTGGC others(4): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 332 | 0.0030 | 11 | c.*71 others(22): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3776 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88759698 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03453.hp2 |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0014 a0003c0005t0015g0015 |
2 | 332 | 0.0060 | 11 | c.198 others(28): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 1/43 | chr14 | TogoVar |