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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDA_chrX_69611113_70044472 | 69888977 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 226 | 0.0044 | 14 | c.397 others(33): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69888978 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0059others(14): Show | 17 | 226 | 0.0752 | 14 | c.397 others(33): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69910374 | A | AGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02056.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0020a0001c0001t0001g0059a0001c0001t0017g0054 | 3 | 226 | 0.0133 | 14 | c.397 others(33): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDC3_chr15_74625558_74701024 | 74659487 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 286 | 0.0035 | 14 | c.485 others(31): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDC3_chr15_74625558_74701024 | 74659511 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283 | 1 | 286 | 0.0035 | 14 | c.485 others(31): Show |
EDC3 | ENSG00000179151.13 | transcript | ENST00000315127.9 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
EDC4_chr16_67868052_67889499 | 67869445 | G | GACCCCCC others(7): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 240 | 0.0042 | 14 | c.-38 others(25): Show |
EDC4 | ENSG00000038358.15 | transcript | ENST00000358933.10 | protein_coding | 3606 | chr16 | TogoVar | ||||||
EDDM13_chr19_56267748_56315454 | 56302581 | C | CTCCCTCC others(7): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 396 | 0.0025 | 14 | c.423 others(29): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184704649 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0009 | a0007c0009t0024 | a0007c0009t0024g0270 | 1 | 324 | 0.0031 | 14 | c.220 others(33): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184720509 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0023a0001c0004t0004g0274a0001c0004t0004g0277others(1): Show | 5 | 324 | 0.0154 | 14 | c.951 others(29): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 9/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 83970256 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01891.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0007a0002c0006t0002 | a0001c0001t0001g0094a0001c0001t0007g0038a0002c0006t0002g0037 | 3 | 158 | 0.0190 | 14 | c.113 others(33): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 83987865 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0106others(2): Show | 5 | 158 | 0.0317 | 14 | c.113 others(35): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 83995157 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 158 | 0.0063 | 14 | c.113 others(35): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84080298 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0106a0001c0001t0002g0025others(10): Show | 13 | 158 | 0.0823 | 14 | c.652 others(33): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84217721 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0064 | 1 | 158 | 0.0063 | 14 | c.226 others(33): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84230763 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01123.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0024a0001c0001t0001g0028a0001c0001t0001g0045others(26): Show | 29 | 158 | 0.1835 | 14 | c.197 others(29): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0030a0001c0002t0001g0144 | 2 | 158 | 0.0127 | 14 | c.196 others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01433.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0039a0001c0001t0002g0046a0001c0001t0003g0036others(5): Show | 8 | 158 | 0.0506 | 14 | c.68- others(29): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84303848 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0156a0001c0004t0010g0157 | 2 | 158 | 0.0127 | 14 | c.68- others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84340503 | A | ACTCTCTC others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0076a0001c0001t0002g0092a0001c0001t0004g0079others(3): Show | 6 | 158 | 0.0380 | 14 | c.67+ others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84340534 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 158 | 0.0063 | 14 | c.67+ others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84340534 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0098a0001c0001t0004g0022 | 2 | 158 | 0.0127 | 14 | c.67+ others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84340534 | C | CTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0064 | 1 | 158 | 0.0063 | 14 | c.67+ others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84371319 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01258.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0075a0001c0001t0002g0119a0001c0001t0003g0104others(3): Show | 6 | 158 | 0.0380 | 14 | c.67+ others(31): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN1_chr6_12285361_12302194 | 12294920 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 452 | 0.0022 | 14 | c.533 others(29): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EDN3_chr20_59295611_59330992 | 59306595 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 398 | 0.0025 | 14 | c.365 others(31): Show |
EDN3 | ENSG00000124205.18 | transcript | ENST00000337938.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147505327 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0194 | 1 | 280 | 0.0036 | 14 | c.421 others(33): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147532325 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03516.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0011a0001c0002t0017others(1): Show | a0001c0002t0010g0130a0001c0002t0011g0119a0001c0002t0017g0117others(1): Show | 4 | 280 | 0.0143 | 14 | c.549 others(29): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EEA1_chr12_92765637_92934295 | 92806931 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0198 | 1 | 244 | 0.0041 | 14 | c.233 others(33): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 18/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73524768 | C | CTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 424 | 0.0047 | 14 | c.-38 others(25): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3737 | chr6 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20747462 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0158a0001c0001t0001g0166others(5): Show | 8 | 348 | 0.0230 | 14 | c.145 others(31): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 2/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764880 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281a0001c0001t0001g0330 | 2 | 348 | 0.0058 | 14 | c.-19 others(31): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764917 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 348 | 0.0058 | 14 | c.-19 others(31): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124757166 | C | CCACACAC others(7): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 358 | 0.0028 | 14 | c.*33 others(25): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 667 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769218 | C | CACAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(40): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0102a0001c0001t0001g0106others(40): Show | 43 | 358 | 0.1201 | 14 | c.400 others(31): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769248 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0164a0001c0001t0008g0176 | 2 | 358 | 0.0056 | 14 | c.400 others(31): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769248 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00673.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016 | a0001c0001t0001g0098a0001c0001t0001g0109a0001c0001t0001g0110others(34): Show | 37 | 358 | 0.1034 | 14 | c.400 others(31): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769248 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02976.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0108a0001c0001t0001g0201a0001c0001t0006g0306 | 3 | 358 | 0.0084 | 14 | c.400 others(31): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0161 | 2 | 358 | 0.0056 | 14 | c.291 others(29): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184256272 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18952.hp2 NA21309.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0059a0001c0002t0001g0086a0002c0003t0001g0058 | 3 | 378 | 0.0079 | 14 | c.197 others(31): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEF1AKMT4_chr3_184244672_184263759 | 184263637 | A | AAGAGAGA others(7): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG03471.hp1 NA18965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0002a0001c0001t0001g0121a0001c0008t0001g0094 | 4 | 378 | 0.0106 | 14 | c.*50 others(25): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4879 | chr3 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 442 | 0.0023 | 14 | c.87+ others(29): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 442 | 0.0023 | 14 | c.87+ others(29): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0125 | 2 | 442 | 0.0045 | 14 | c.87+ others(29): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22217228 | T | TAGATAGA others(7): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0168 | 1 | 290 | 0.0035 | 14 | c.-76 others(31): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTCTTTT others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 NA19003.hp2 NA19085.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0239a0002c0003t0001g0248a0002c0003t0001g0249 | 3 | 290 | 0.0103 | 14 | c.246 others(29): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0218 | 1 | 290 | 0.0035 | 14 | c.246 others(29): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22262001 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0011a0001c0002t0004a0003c0005t0011 | a0001c0001t0011g0054a0001c0002t0004g0180a0003c0005t0011g0282 | 3 | 290 | 0.0103 | 14 | c.130 others(33): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0104 | 1 | 403 | 0.0025 | 14 | c.171 others(31): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128293660 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02886.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0001a0002c0007t0001 | a0001c0002t0001g0016a0002c0007t0001g0017 | 2 | 272 | 0.0074 | 14 | c.786 others(33): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127985676 | T | TATATATA others(7): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01975.hp1 HG01981.hp2 others(25): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0027a0001c0002t0031 | a0001c0002t0003g0014a0001c0002t0003g0028a0001c0002t0003g0108others(24): Show | 28 | 342 | 0.0819 | 14 | c.-55 others(25): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 4688 | chr9 | TogoVar |