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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIF5A2_chr3_170883418_170913637 | 170896321 | TAAAAC | T | intron_variant | MODIFIER | HG00621.hp2 HG02056.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0047a0001c0001t0048others(1): Show | a0001c0001t0005g0029a0001c0001t0005g0069a0001c0001t0047g0071others(2): Show | 6 | 394 | 0.0152 | -5 | c.271 others(22): Show |
EIF5A2 | ENSG00000163577.8 | transcript | ENST00000295822.7 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
EIF5_chr14_103329237_103350025 | 103331984 | AAAAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0021others(28): Show | 139 | 438 | 0.3174 | -5 | c.-26 others(16): Show |
EIF5 | ENSG00000100664.11 | transcript | ENST00000216554.8 | protein_coding | 2252 | chr14 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3245188 | CCGTTG | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(137): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(137): Show | 140 | 250 | 0.5600 | -5 | c.416 others(24): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3336918 | AAAGGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0079others(33): Show | 36 | 250 | 0.1440 | -5 | c.259 others(22): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3341095 | CAAAAA | C | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0016a0001c0001t0001g0097a0001c0001t0001g0098others(4): Show | 7 | 250 | 0.0280 | -5 | c.127 others(22): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3355812 | TAAATA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0024others(83): Show | 86 | 250 | 0.3440 | -5 | c.43- others(20): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3367753 | AAACTT | A | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111 | 3 | 250 | 0.0120 | -5 | c.42+ others(20): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ELAC1_chr18_50963040_50993121 | 50967065 | TTTTTA | T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02451.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0063a0001c0001t0001g0064others(6): Show | 10 | 384 | 0.0260 | -5 | c.-10 others(16): Show |
ELAC1 | ENSG00000141642.9 | transcript | ENST00000269466.8 | protein_coding | 974 | chr18 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 13022617 | TGTCTC | T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03017.hp1 NA19240.hp2 |
a0001a0002a0003 | a0001c0001a0002c0019a0003c0006 | a0001c0001t0018a0002c0019t0034a0003c0006t0006 | a0001c0001t0018g0027a0002c0019t0034g0095a0003c0006t0006g0010 | 3 | 400 | 0.0075 | -5 | c.-46 others(16): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 4591 | chr17 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109109533 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0028 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(2): Show | a0001c0001t0001g0073a0001c0001t0003g0049a0001c0001t0019g0019others(2): Show | 5 | 230 | 0.0217 | -5 | c.-46 others(16): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 4581 | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109120395 | TTAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01070.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0001c0024others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0008a0001c0001t0001g0101a0001c0001t0001g0119others(42): Show | 45 | 230 | 0.1957 | -5 | c.153 others(22): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109125385 | TTTTTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(102): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0020others(101): Show | 105 | 230 | 0.4565 | -5 | c.153 others(24): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109127350 | GACTAC | G | intron_variant | MODIFIER | HG00639.hp1 HG02970.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0001c0013a0002c0028 | a0001c0001t0001a0001c0013t0031a0002c0028t0001 | a0001c0001t0001g0073a0001c0013t0031g0069a0002c0028t0001g0072 | 3 | 230 | 0.0130 | -5 | c.153 others(24): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109132203 | AATGGC | A | intron_variant | MODIFIER | HG00642.hp1 HG02723.hp1 HG02896.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0014a0002c0005t0006g0015a0002c0005t0006g0016others(2): Show | 5 | 230 | 0.0217 | -5 | c.153 others(24): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR1_chr1_109109115_109211781 | 109153616 | GTGTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0013others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0008a0001c0001t0001g0020a0001c0001t0001g0056others(144): Show | 148 | 230 | 0.6435 | -5 | c.154 others(22): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ELAPOR2_chr7_86871906_87064654 | 86910756 | AAAAAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075a0001c0001t0002g0092a0001c0001t0002g0093others(2): Show | 5 | 196 | 0.0255 | -5 | c.217 others(22): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 15/21 | chr7 | TogoVar | ||||||
ELAPOR2_chr7_86871906_87064654 | 86918323 | CAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0010a0001c0004t0003 | a0001c0001t0003g0018a0001c0001t0010g0108a0001c0004t0003g0025others(5): Show | 8 | 196 | 0.0408 | -5 | c.159 others(22): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 12/21 | chr7 | TogoVar | ||||||
ELAVL1_chr19_7953573_8010641 | 7972617 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0015others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0046a0001c0001t0001g0047others(8): Show | 11 | 276 | 0.0399 | -5 | c.430 others(22): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23686719 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01099.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(41): Show | 44 | 352 | 0.1250 | -5 | c.*58 others(16): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 3384 | chr9 | TogoVar | ||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01081.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0100a0001c0001t0001g0102others(16): Show | 19 | 352 | 0.0540 | -5 | c.488 others(22): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
ELAVL3_chr19_11446326_11486046 | 11461009 | CAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02572.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0277a0001c0001t0002g0288a0001c0001t0002g0289others(10): Show | 13 | 318 | 0.0409 | -5 | c.334 others(22): Show |
ELAVL3 | ENSG00000196361.10 | transcript | ENST00000359227.8 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ELF1_chr13_40926924_41024316 | 40933133 | TAGAAA | T | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02895.hp2 HG03098.hp2 |
a0006a0010 | a0006c0008a0010c0009 | a0006c0008t0006a0010c0009t0006 | a0006c0008t0006g0188a0006c0008t0006g0189a0010c0009t0006g0273 | 3 | 362 | 0.0083 | -5 | c.*28 others(14): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 9/9 | 287 | chr13 | TogoVar | |||||
ELF1_chr13_40926924_41024316 | 41016944 | AAAAAT | A | intron_variant | MODIFIER | HG00673.hp2 HG02615.hp2 HG02717.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0002c0002t0002a0004c0006t0004 | a0001c0001t0001g0257a0001c0001t0001g0336a0002c0002t0002g0256others(4): Show | 7 | 362 | 0.0193 | -5 | c.-22 others(24): Show |
ELF1 | ENSG00000120690.16 | transcript | ENST00000239882.7 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139090913 | GTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(310): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(310): Show | 313 | 342 | 0.9152 | -5 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139092368 | ATAACG | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0021a0001c0001t0001g0072others(1): Show | 4 | 342 | 0.0117 | -5 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139092413 | ATACAT | A | intron_variant | MODIFIER | HG01071.hp2 HG02004.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0038a0001c0001t0001g0074others(3): Show | 6 | 342 | 0.0175 | -5 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139092414 | TACATA | T | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0197a0001c0001t0002g0340a0002c0002t0002g0111others(1): Show | 4 | 342 | 0.0117 | -5 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139094721 | AAAGAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(204): Show | 207 | 342 | 0.6053 | -5 | c.239 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139106335 | TAGAGA | T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0112a0002c0002t0002g0113a0002c0002t0002g0198others(2): Show | 5 | 342 | 0.0146 | -5 | c.238 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139116893 | CCTTAT | C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0112a0002c0002t0002g0113a0002c0002t0002g0198others(2): Show | 5 | 342 | 0.0146 | -5 | c.238 others(22): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139134584 | ATTTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(197): Show | 200 | 342 | 0.5848 | -5 | c.72+ others(20): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139148316 | ATTTTT | A | intron_variant | MODIFIER | HG02056.hp1 HG02145.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224others(3): Show | 6 | 342 | 0.0175 | -5 | c.-25 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139172882 | CGGGGG | C | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01071.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0066a0001c0001t0001g0081others(20): Show | 23 | 342 | 0.0673 | -5 | c.-25 others(24): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130070786 | AAAAAG | A | intron_variant | MODIFIER | HG02257.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0246a0001c0001t0025g0268 | 2 | 274 | 0.0073 | -5 | c.809 others(20): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 7/8 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130072916 | TTCAGC | T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00673.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0019a0001c0001t0001g0062a0001c0001t0001g0065others(52): Show | 55 | 274 | 0.2007 | -5 | c.341 others(20): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 4/8 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130080423 | CAAAAA | C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 274 | 0.0037 | -5 | c.75+ others(18): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 2/8 | chrX | TogoVar | ||||||
ELF4_chrX_130058955_130115497 | 130101801 | AAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01256.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0235a0001c0001t0002g0008others(5): Show | 8 | 274 | 0.0292 | -5 | c.-21 others(24): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
ELF5_chr11_34473791_34518794 | 34475997 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048a0001c0001t0005g0190a0001c0001t0005g0229others(3): Show | 6 | 436 | 0.0138 | -5 | c.*42 others(16): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 2793 | chr11 | TogoVar | ||||||
ELF5_chr11_34473791_34518794 | 34484252 | CATACT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(46): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0016 | a0001c0002t0004g0013a0001c0002t0004g0015a0001c0002t0004g0016others(36): Show | 49 | 436 | 0.1124 | -5 | c.407 others(22): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
ELF5_chr11_34473791_34518794 | 34484481 | AACTAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0006a0001c0001t0003g0022others(34): Show | 50 | 436 | 0.1147 | -5 | c.407 others(22): Show |
ELF5 | ENSG00000135374.11 | transcript | ENST00000257832.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
ELFN1_chr7_1665277_1752946 | 1706424 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0019others(90): Show | 93 | 302 | 0.3080 | -5 | c.-45 others(24): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ELFN2_chr22_37362960_37432479 | 37417122 | GCCTCT | G | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0008a0001c0003t0042others(1): Show | a0001c0001t0005g0225a0001c0002t0008g0228a0001c0003t0042g0229others(1): Show | 4 | 334 | 0.0120 | -5 | c.-46 others(22): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96196747 | GTTTTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0003g0337others(3): Show | 6 | 354 | 0.0170 | -5 | c.-3+ others(20): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96197410 | ATTTAC | A | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0004g0041others(2): Show | 5 | 354 | 0.0141 | -5 | c.-3+ others(20): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96211486 | TTTGTG | T | intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01257.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0200a0001c0001t0001g0207a0001c0001t0001g0230others(11): Show | 14 | 354 | 0.0396 | -5 | c.-2- others(22): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ELK3_chr12_96189375_96274824 | 96267832 | TAAAAG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(206): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(201): Show | 209 | 354 | 0.5904 | -5 | c.*65 others(14): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 5/5 | 657 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ELK4_chr1_205602943_205637011 | 205627516 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0014others(8): Show | a0001c0001t0002g0261a0001c0002t0002g0001a0001c0002t0002g0014others(31): Show | 74 | 424 | 0.1745 | -5 | c.-9- others(20): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
ELL3_chr15_43767620_43781966 | 43778581 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02071.hp2 HG02074.hp1 HG02074.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 12 | 372 | 0.0323 | -5 | c.-16 others(16): Show |
ELL3 | ENSG00000128886.12 | transcript | ENST00000319359.8 | protein_coding | 1616 | chr15 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18491249 | ATTTTT | A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01175.hp2 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0010t0002 | a0001c0001t0002g0017a0001c0001t0002g0030a0001c0001t0002g0046others(14): Show | 17 | 244 | 0.0697 | -5 | c.136 others(24): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18519820 | AAAAAG | A | intron_variant | MODIFIER | HG01975.hp2 HG02886.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0016a0001c0004t0006 | a0001c0001t0001g0155a0001c0001t0001g0177a0001c0001t0001g0178others(5): Show | 8 | 244 | 0.0328 | -5 | c.135 others(22): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar |