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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELF4_chrX_130058955_130115497 | 130102929 | AAGGAGGG others(2): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0012 | 1 | 274 | 0.0037 | -9 | c.-21 others(28): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130105867 | TGTGTGTG others(2): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 274 | 0.0037 | -9 | c.-21 others(28): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ELF5_chr11_34473791_34518794 | 34484472 | CACTATAC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0067a0001c0001t0001g0091others(32): Show | 44 | 436 | 0.1009 | -9 | c.407 others(26): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
ELFN1_chr7_1665277_1752946 | 1688031 | ATTTTTTT others(2): Show |
A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG02451.hp1 HG02622.hp2 others(13): Show |
a0001a0007a0015 | a0001c0001a0001c0005a0007c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0003g0133others(13): Show | 16 | 302 | 0.0530 | -9 | c.-54 others(23): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ELFN2_chr22_37362960_37432479 | 37381955 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(174): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(58): Show | a0001c0001t0002g0029a0001c0001t0002g0097a0001c0001t0002g0102others(173): Show | 177 | 334 | 0.5299 | -9 | c.-46 others(28): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96211486 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG02922.hp2 NA18946.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0237a0001c0001t0002g0332a0001c0001t0006g0204 | 3 | 354 | 0.0085 | -9 | c.-2- others(26): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELL_chr19_18437663_18527070 | 18482308 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0006a0001c0005t0007 | a0001c0001t0001g0144a0001c0004t0006g0156a0001c0004t0006g0157others(4): Show | 7 | 244 | 0.0287 | -9 | c.136 others(26): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 36885319 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01256.hp1 HG01258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0041a0001c0001t0002g0002a0001c0001t0009g0055others(9): Show | 12 | 92 | 0.1304 | -9 | c.171 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 18/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37267027 | ATATGTAT others(2): Show |
A | intron_variant | MODIFIER | HG02818.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0090a0001c0001t0015g0061 | 2 | 92 | 0.0217 | -9 | c.243 others(26): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 5/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37429019 | GGTTGTTG others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0074others(23): Show | 26 | 92 | 0.2826 | -9 | c.-74 others(28): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO3_chr16_67194131_67209004 | 67195890 | ACAGCAGC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 328 | 0.0122 | -9 | c.-34 others(20): Show |
ELMO3 | ENSG00000102890.16 | transcript | ENST00000393997.8 | protein_coding | 3240 | chr16 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107615985 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0319a0001c0001t0001g0320a0001c0001t0001g0322others(15): Show | 18 | 342 | 0.0526 | -9 | c.-85 others(26): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELMOD2_chr4_140519168_140558770 | 140543117 | TCAGATTA others(2): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG03017.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0126a0001c0001t0001g0127others(2): Show | 5 | 370 | 0.0135 | -9 | c.603 others(24): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ELMOD3_chr2_85349769_85396748 | 85391015 | TCAGTGGA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp2 others(16): Show |
a0004a0007a0012 | a0004c0004a0007c0015a0012c0009 | a0004c0004t0003a0007c0015t0003a0012c0009t0003 | a0004c0004t0003g0008a0004c0004t0003g0009a0004c0004t0003g0010others(10): Show | 19 | 386 | 0.0492 | -9 | c.*56 others(16): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 14/14 | 56 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG01106.hp2 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0005a0002c0003t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0027others(23): Show | 29 | 400 | 0.0725 | -9 | c.*56 others(20): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73950097 | TTTGGAGA others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG06807.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0026a0001c0001t0007g0104 | 3 | 404 | 0.0074 | -9 | c.149 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
ELOC_chr8_73940119_73977191 | 73970916 | CCCAGCTG others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0019others(43): Show | 62 | 404 | 0.1535 | -9 | c.-51 others(26): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11550969 | ACACACGA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0016others(1): Show | a0001c0001t0004g0005a0001c0001t0005g0045a0001c0001t0016g0032others(1): Show | 4 | 412 | 0.0097 | -9 | c.*27 others(20): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2076 | chr19 | TogoVar | ||||||
ELOVL1_chr1_43358401_43373011 | 43370039 | GAAAAAAA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0007 | 7 | 384 | 0.0182 | -9 | c.-21 others(20): Show |
ELOVL1 | ENSG00000066322.15 | transcript | ENST00000372458.8 | protein_coding | 2029 | chr1 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10993857 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0012a0002c0004t0016 | a0001c0001t0012g0303a0001c0001t0012g0304a0001c0001t0012g0305others(4): Show | 7 | 380 | 0.0184 | -9 | c.505 others(26): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(97): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0033others(96): Show | 100 | 380 | 0.2632 | -9 | c.3+1 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11030891 | TCCTGTGT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0284a0001c0002t0001g0285a0001c0002t0001g0287others(1): Show | 4 | 380 | 0.0105 | -9 | c.3+1 others(24): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110061549 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0136a0001c0001t0002g0334a0001c0001t0004g0336others(18): Show | 21 | 338 | 0.0621 | -9 | c.222 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084134 | AATGATAT others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0014a0001c0001t0014g0025a0001c0001t0014g0111 | 3 | 338 | 0.0089 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084579 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02004.hp1 HG02129.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0125a0001c0001t0001g0276a0001c0001t0002g0236others(19): Show | 22 | 338 | 0.0651 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084588 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG03098.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029a0001c0001t0058 | a0001c0001t0001g0067a0001c0001t0001g0089a0001c0001t0001g0138others(8): Show | 11 | 338 | 0.0325 | -9 | c.221 others(28): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110103783 | AAGTGTAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(165): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0067others(165): Show | 168 | 338 | 0.4970 | -9 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110173670 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02145.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0044others(32): Show | 35 | 338 | 0.1036 | -9 | c.89+ others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110186815 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01981.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0125a0001c0001t0001g0337a0001c0001t0001g0338others(13): Show | 16 | 338 | 0.0473 | -9 | c.89+ others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110196278 | GCTGACCA others(2): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01981.hp2 HG02723.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(7): Show | a0001c0001t0001g0337a0001c0001t0001g0338a0001c0001t0004g0336others(11): Show | 14 | 338 | 0.0414 | -9 | c.89+ others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELP3_chr8_28088139_28196153 | 28160790 | GTTCAAGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(211): Show | 229 | 398 | 0.5754 | -9 | c.148 others(26): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP6_chr3_47490640_47518712 | 47502415 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(187): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(75): Show | 190 | 374 | 0.5080 | -9 | c.324 others(24): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47514055 | TTTATTAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG02074.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0074 | 11 | 374 | 0.0294 | -9 | c.-47 others(18): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 344 | chr3 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 47990118 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01069.hp1 others(37): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0071others(37): Show | 40 | 388 | 0.1031 | -9 | c.-47 others(20): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4513 | chr19 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 47999387 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01981.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0107others(9): Show | 12 | 388 | 0.0309 | -9 | c.-18 others(26): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ELSPBP1_chr19_47989632_48030154 | 48028480 | TTTTCTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG03139.hp2 others(4): Show |
a0002a0003a0010 | a0002c0002a0003c0007a0010c0011 | a0002c0002t0003a0003c0007t0001a0010c0011t0001 | a0002c0002t0003g0098a0003c0007t0001g0008a0003c0007t0001g0013others(4): Show | 7 | 388 | 0.0180 | -9 | c.*35 others(20): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 3327 | chr19 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108474892 | TACATGTA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(54): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0024a0001c0001t0026others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0008a0001c0001t0003g0018others(40): Show | 57 | 364 | 0.1566 | -9 | c.510 others(24): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC3_chr3_9957682_9991841 | 9978145 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00673.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0146a0001c0001t0002g0038a0001c0001t0002g0041others(48): Show | 54 | 322 | 0.1677 | -9 | c.156 others(24): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
EMC4_chr15_34220016_34235156 | 34231583 | TCTTTCTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0029a0001c0001t0002g0030others(1): Show | 6 | 362 | 0.0166 | -9 | c.*17 others(20): Show |
EMC4 | ENSG00000128463.13 | transcript | ENST00000267750.9 | protein_coding | 1428 | chr15 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100414348 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0023a0002c0002t0001others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0101a0001c0001t0001g0182others(74): Show | 78 | 262 | 0.2977 | -9 | c.751 others(26): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 10/11 | chr4 | TogoVar | ||||||
EMCN_chr4_100390341_100523022 | 100475658 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(92): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0185others(91): Show | 95 | 262 | 0.3626 | -9 | c.188 others(24): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
EMD_chrX_154374295_154386523 | 154375871 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | -9 | c.-36 others(20): Show |
EMD | ENSG00000102119.12 | transcript | ENST00000369842.9 | protein_coding | 3423 | chrX | TogoVar | ||||||
EME1_chr17_50368229_50386483 | 50383605 | ATCATTAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02258.hp2 others(4): Show |
a0008a0016 | a0008c0008a0016c0014 | a0008c0008t0002a0016c0014t0002 | a0008c0008t0002g0010a0016c0014t0002g0010 | 7 | 384 | 0.0182 | -9 | c.*26 others(20): Show |
EME1 | ENSG00000154920.15 | transcript | ENST00000338165.9 | protein_coding | 2123 | chr17 | TogoVar | ||||||
EMID1_chr22_29200896_29264597 | 29238254 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0009a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0002t0001g0018a0001c0002t0001g0234a0001c0002t0002g0186others(47): Show | 51 | 348 | 0.1466 | -9 | c.107 others(28): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EML2_chr19_45604400_45644397 | 45635583 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0104others(13): Show | 18 | 382 | 0.0471 | -9 | c.180 others(26): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 3/18 | chr19 | TogoVar | ||||||
EML4_chr2_42164353_42337548 | 42221403 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0122a0001c0001t0002g0332a0001c0001t0002g0333others(113): Show | 118 | 358 | 0.3296 | -9 | c.26- others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42222266 | TAACAGTT others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019 | a0001c0001t0010g0126a0001c0001t0010g0137a0001c0001t0010g0138others(1): Show | 4 | 358 | 0.0112 | -9 | c.26- others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML4_chr2_42164353_42337548 | 42226672 | AAAATAAA others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0005a0001c0012others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0020others(4): Show | a0001c0001t0003g0123a0001c0001t0003g0124a0001c0001t0003g0131others(10): Show | 13 | 358 | 0.0363 | -9 | c.26- others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML5_chr14_88607431_88797953 | 88796218 | ATATTATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0210a0001c0001t0001g0283a0001c0001t0001g0290others(7): Show | 11 | 332 | 0.0331 | -9 | c.-37 others(20): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3266 | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88796688 | GTTATATA others(2): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0013a0001c0009t0013 | a0001c0003t0013g0298a0001c0003t0013g0300a0001c0009t0013g0301 | 3 | 332 | 0.0090 | -9 | c.-41 others(20): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3736 | chr14 | TogoVar |