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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELMO1_chr7_36847906_37453864 | 37104010 | CAAAAA | C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 5 | 92 | 0.0544 | -5 | c.119 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37256724 | GGGGAA | G | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01361.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0009a0001c0001t0002g0019a0001c0001t0003g0026others(9): Show | 12 | 92 | 0.1304 | -5 | c.413 others(22): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37278113 | CTTTTT | C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0002t0003g0013others(4): Show | 7 | 92 | 0.0761 | -5 | c.193 others(22): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 4/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37291951 | CACGGT | C | intron_variant | MODIFIER | HG02896.hp1 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0004 | a0001c0001t0013g0078a0001c0002t0004g0023 | 2 | 92 | 0.0217 | -5 | c.193 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 4/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37296662 | CCATAT | C | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp1 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0022others(88): Show | 91 | 92 | 0.9891 | -5 | c.192 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 4/21 | chr7 | TogoVar | ||||||
ELMO1_chr7_36847906_37453864 | 37423588 | CAAACA | C | intron_variant | MODIFIER | HG02027.hp2 HG03927.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0007 | a0001c0001t0001g0040a0001c0001t0003g0017a0001c0005t0007g0016 | 3 | 92 | 0.0326 | -5 | c.-74 others(24): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
ELMO2_chr20_46361050_46411615 | 46369958 | GGGGGT | G | intron_variant | MODIFIER | HG01978.hp1 NA18747.hp1 NA18747.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0119a0001c0001t0003g0066others(2): Show | 5 | 312 | 0.0160 | -5 | c.188 others(22): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 20/21 | chr20 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107590331 | TTTCTC | T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02630.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0290a0001c0001t0009g0121a0001c0001t0010g0018 | 3 | 342 | 0.0088 | -5 | c.-11 others(16): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 815 | chr11 | TogoVar | ||||||
ELMOD1_chr11_107586147_107671779 | 107599349 | GCTCAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(102): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0059a0001c0001t0001g0062a0001c0001t0001g0064others(100): Show | 105 | 342 | 0.3070 | -5 | c.-86 others(22): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELMOD1_chr11_107586147_107671779 | 107616704 | GGCTAC | G | intron_variant | MODIFIER | HG02486.hp2 HG03516.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0010a0001c0002t0018 | a0001c0002t0004g0270a0001c0002t0010g0271a0001c0002t0018g0272 | 3 | 342 | 0.0088 | -5 | c.-85 others(22): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELMOD1_chr11_107586147_107671779 | 107628162 | TTTTTG | T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0197a0001c0001t0005g0087a0001c0001t0005g0116others(7): Show | 10 | 342 | 0.0292 | -5 | c.18- others(20): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELOA_chr1_23738471_23767059 | 23758254 | TATTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0012a0002c0003t0001 | a0001c0001t0001g0016a0001c0001t0001g0036a0001c0001t0001g0038others(7): Show | 14 | 400 | 0.0350 | -5 | c.225 others(24): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
ELOA_chr1_23738471_23767059 | 23765206 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0022a0001c0001t0001g0075others(23): Show | 29 | 400 | 0.0725 | -5 | c.*56 others(16): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | ||||||
ELOF1_chr19_11548046_11564230 | 11550973 | ACGACC | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01346.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0018others(5): Show | a0001c0001t0004g0005a0001c0001t0004g0048a0001c0001t0004g0112others(13): Show | 31 | 412 | 0.0752 | -5 | c.*27 others(16): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2072 | chr19 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10978299 | ATATAT | A | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01168.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0030a0001c0002t0002g0220a0001c0002t0002g0224others(10): Show | 13 | 380 | 0.0342 | -5 | c.*54 others(16): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2459 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 10993436 | TTAACA | T | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0012a0002c0004t0016 | a0001c0001t0012g0302a0001c0001t0012g0303a0001c0001t0012g0304others(5): Show | 8 | 380 | 0.0211 | -5 | c.505 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | ||||||
ELOVL2_chr6_10975759_11049305 | 11027709 | CTAAGA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(280): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0031others(255): Show | 283 | 380 | 0.7447 | -5 | c.3+1 others(20): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL4_chr6_79909814_79952553 | 79921459 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00738.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032others(8): Show | 14 | 354 | 0.0396 | -5 | c.541 others(20): Show |
ELOVL4 | ENSG00000118402.6 | transcript | ENST00000369816.5 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53304436 | CTTTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(158): Show | 166 | 320 | 0.5188 | -5 | c.-8- others(20): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53314231 | CTTCAT | C | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0161a0001c0001t0001g0162others(1): Show | 4 | 320 | 0.0125 | -5 | c.-8- others(22): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL5_chr6_53262404_53353950 | 53317839 | AAAAAT | A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0197a0001c0001t0006g0303a0001c0001t0006g0304others(1): Show | 4 | 320 | 0.0125 | -5 | c.-8- others(22): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110044295 | AAAAAC | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01978.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0024others(1): Show | a0001c0001t0006g0093a0001c0001t0006g0113a0001c0001t0006g0117others(18): Show | 21 | 338 | 0.0621 | -5 | c.*70 others(16): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1550 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110064245 | AGGTGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG02004.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0288a0001c0001t0005g0091a0001c0001t0005g0092others(26): Show | 29 | 338 | 0.0858 | -5 | c.222 others(22): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084022 | TATGCC | T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0121others(16): Show | 19 | 338 | 0.0562 | -5 | c.221 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084040 | TAACAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0121others(16): Show | 19 | 338 | 0.0562 | -5 | c.221 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110084412 | TACATG | T | intron_variant | MODIFIER | NA18612.hp2 NA18968.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0123a0001c0001t0005g0192 | 3 | 338 | 0.0089 | -5 | c.221 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110089150 | ATTTAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0029others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0138a0001c0001t0001g0144others(18): Show | 21 | 338 | 0.0621 | -5 | c.221 others(24): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110110401 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0044a0001c0001t0001g0070a0001c0001t0001g0071others(51): Show | 54 | 338 | 0.1598 | -5 | c.90- others(20): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110120348 | AAAAGT | A | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0001g0251a0001c0001t0011g0004a0001c0001t0015g0037others(3): Show | 6 | 338 | 0.0178 | -5 | c.90- others(22): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL6_chr4_110040846_110203615 | 110169233 | TTTTTG | T | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0027 | a0001c0001t0004g0020a0001c0001t0009g0019a0001c0001t0009g0021others(2): Show | 5 | 338 | 0.0148 | -5 | c.89+ others(22): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60759409 | AAATAG | A | intron_variant | MODIFIER | HG02135.hp1 NA18939.hp1 NA18950.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0054a0001c0001t0002g0103a0001c0001t0002g0207others(7): Show | 10 | 258 | 0.0388 | -5 | c.500 others(22): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60819020 | AGAGGG | A | intron_variant | MODIFIER | HG00621.hp1 HG01261.hp2 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0231a0001c0001t0002g0237a0001c0001t0006g0143others(3): Show | 6 | 258 | 0.0233 | -5 | c.-85 others(24): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
ELP1_chr9_108862517_108939124 | 108872803 | TGAAAA | T | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02071.hp1 others(16): Show |
a0002a0003a0014others(1): Show | a0002c0013a0003c0004a0003c0005others(2): Show | a0002c0013t0001a0003c0004t0001a0003c0005t0001others(3): Show | a0002c0013t0001g0130a0003c0004t0001g0012a0003c0004t0001g0139others(15): Show | 19 | 416 | 0.0457 | -5 | c.393 others(24): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | ||||||
ELP2_chr18_36124899_36185557 | 36133897 | GTTTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG01928.hp1 HG02886.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0008others(5): Show | a0002c0002t0003g0318a0002c0002t0003g0321a0002c0002t0003g0346others(11): Show | 14 | 378 | 0.0370 | -5 | c.217 others(20): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELP2_chr18_36124899_36185557 | 36157039 | TAGATG | T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0053 | a0001c0001t0001g0079a0001c0001t0001g0102a0001c0001t0053g0101 | 3 | 378 | 0.0079 | -5 | c.146 others(22): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELP2_chr18_36124899_36185557 | 36168913 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(119): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(39): Show | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0002g0007others(115): Show | 122 | 378 | 0.3228 | -5 | c.207 others(24): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ELP3_chr8_28088139_28196153 | 28129047 | TTTTTC | T | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0009a0001c0002t0011others(1): Show | a0001c0002t0001g0148a0001c0002t0009g0141a0001c0002t0009g0142others(6): Show | 9 | 398 | 0.0226 | -5 | c.618 others(20): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31533825 | TTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(3): Show | a0001c0001t0005g0264a0001c0001t0008g0269a0001c0001t0008g0270others(5): Show | 8 | 270 | 0.0296 | -5 | c.260 others(22): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31610327 | GTTTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0003a0004 | a0001c0001a0001c0008a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0114others(133): Show | 136 | 270 | 0.5037 | -5 | c.653 others(22): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ELP4_chr11_31504767_31795324 | 31733230 | ATTTGG | A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192a0001c0001t0003g0210a0001c0001t0003g0211 | 3 | 270 | 0.0111 | -5 | c.114 others(26): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31790097 | CAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG03139.hp1 HG03195.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0079a0001c0001t0080 | a0001c0001t0011g0011a0001c0001t0011g0104a0001c0001t0011g0189others(3): Show | 6 | 270 | 0.0222 | -5 | c.*65 others(16): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 10/10 | 6592 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ELP5_chr17_7247215_7264937 | 7248259 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02809.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0020others(1): Show | 11 | 412 | 0.0267 | -5 | c.-42 others(16): Show |
ELP5 | ENSG00000170291.16 | transcript | ENST00000396628.7 | protein_coding | 3955 | chr17 | TogoVar | ||||||
ELSPBP1_chr19_47989632_48030154 | 48003886 | CTTCTA | C | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01069.hp1 others(51): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0023a0001c0001t0001g0024others(51): Show | 54 | 388 | 0.1392 | -5 | c.-17 others(22): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EMB_chr5_50391192_50446288 | 50440533 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(69): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0012others(52): Show | 72 | 346 | 0.2081 | -5 | c.112 others(20): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
EMB_chr5_50391192_50446288 | 50443650 | CATATA | C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020 | a0001c0001t0001g0007a0001c0001t0001g0098a0001c0001t0001g0117others(4): Show | 9 | 346 | 0.0260 | -5 | c.-25 others(16): Show |
EMB | ENSG00000170571.12 | transcript | ENST00000303221.10 | protein_coding | 2363 | chr5 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50472266 | TATATG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00621.hp1 others(48): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0004 | a0001c0002t0035a0001c0002t0036a0001c0002t0037others(40): Show | a0001c0002t0035g0004a0001c0002t0036g0004a0001c0002t0036g0034others(43): Show | 51 | 352 | 0.1449 | -5 | c.-42 others(16): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4240 | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50488295 | CAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02572.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0083a0001c0002t0004a0001c0002t0036others(5): Show | a0001c0001t0083g0001a0001c0002t0004g0006a0001c0002t0036g0004others(7): Show | 17 | 352 | 0.0483 | -5 | c.*60 others(16): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 7/7 | 6055 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
EMC10_chr19_50471507_50495871 | 50494232 | AAAGAG | A | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02055.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0173a0001c0002t0056a0001c0002t0057others(3): Show | a0001c0001t0173g0001a0001c0002t0056g0068a0001c0002t0057g0015others(3): Show | 6 | 352 | 0.0171 | -5 | c.*11 others(18): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 3362 | chr19 | TogoVar | ||||||
EMC2_chr8_108438624_108494196 | 108451219 | AAAATC | A | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01167.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0014others(3): Show | a0001c0001t0004g0027a0001c0001t0004g0028a0001c0001t0004g0030others(32): Show | 40 | 364 | 0.1099 | -5 | c.219 others(20): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EMC2_chr8_108438624_108494196 | 108466442 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(110): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0006others(84): Show | 113 | 364 | 0.3104 | -5 | c.364 others(22): Show |
EMC2 | ENSG00000104412.8 | transcript | ENST00000220853.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |