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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp2 HG02056.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0031others(5): Show | 22 | 438 | 0.0502 | 21 | c.538 others(36): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ECM2_chr9_92490315_92540990 | 92532015 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0058 | 1 | 400 | 0.0025 | 21 | c.-28 others(38): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0263 | 2 | 400 | 0.0050 | 21 | c.-28 others(38): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 400 | 0.0025 | 21 | c.-28 others(38): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111407428 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 354 | 0.0028 | 21 | c.265 others(40): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111468705 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0285 | 1 | 354 | 0.0028 | 21 | c.22+ others(36): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 2/49 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0161 | 3 | 434 | 0.0069 | 21 | c.80- others(34): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECSIT_chr19_11500929_11534134 | 11508383 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01361.hp1 others(10): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0002 | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0088others(10): Show | 13 | 312 | 0.0417 | 21 | c.739 others(36): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138907313 | A | AAGTGTGT others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 326 | 0.0031 | 21 | c.*46 others(32): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 3244 | chr6 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236390941 | G | GTTATTAT others(14): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0024 | a0001c0001t0003g0127a0001c0001t0024g0120 | 2 | 294 | 0.0068 | 21 | c.-35 others(32): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 3344 | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405790 | T | TTTCTTTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02015.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0125a0001c0001t0002g0212a0001c0001t0003g0182others(2): Show | 5 | 294 | 0.0170 | 21 | c.62- others(36): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69889021 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 226 | 0.0044 | 21 | c.397 others(40): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184720509 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0019 | a0001c0003t0009g0088a0001c0003t0019g0087 | 2 | 324 | 0.0062 | 21 | c.951 others(36): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 9/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84132381 | A | AATATATA others(14): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0120a0001c0001t0003g0065a0001c0002t0003g0052others(2): Show | 5 | 158 | 0.0317 | 21 | c.469 others(38): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84252493 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0049a0001c0001t0001g0142a0001c0002t0001g0143others(1): Show | 4 | 158 | 0.0253 | 21 | c.196 others(38): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84262659 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02071.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049a0001c0001t0002g0141 | 2 | 158 | 0.0127 | 21 | c.68- others(36): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63490068 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18989.hp2 NA19074.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073a0001c0004t0001g0077a0001c0004t0001g0078 | 3 | 374 | 0.0080 | 21 | c.102 others(38): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63490466 | C | CGCAGCCC others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0120 | 1 | 374 | 0.0027 | 21 | c.102 others(33): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 6/7 | chr20 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 358 | 0.0028 | 21 | c.400 others(38): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 358 | 0.0028 | 21 | c.400 others(38): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 442 | 0.0023 | 21 | c.87+ others(36): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 442 | 0.0023 | 21 | c.87+ others(36): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF2KMT_chr16_5079284_5102795 | 5097608 | A | AGCCCCGC others(14): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 442 | 0.0023 | 21 | c.96+ others(32): Show |
EEF2KMT | ENSG00000118894.15 | transcript | ENST00000427587.9 | protein_coding | 1/7 | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22226517 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0011 | 1 | 290 | 0.0035 | 21 | c.246 others(36): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22289395 | T | TAAATAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01943.hp1 HG01975.hp2 others(19): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0002t0003a0002c0003t0003others(3): Show | a0001c0001t0003g0275a0001c0001t0003g0280a0001c0002t0003g0157others(19): Show | 22 | 290 | 0.0759 | 21 | c.*53 others(32): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 658 | chr16 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22289399 | T | TAAATAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02572.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0009a0003c0004t0005g0010a0003c0004t0005g0014others(1): Show | 4 | 290 | 0.0138 | 21 | c.*54 others(32): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 662 | chr16 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128152937 | C | CCCCCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG01496.hp1 others(8): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0001 | a0001c0002t0001g0012a0001c0002t0001g0015a0001c0002t0001g0023others(8): Show | 11 | 272 | 0.0404 | 21 | c.-57 others(30): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 543 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128152959 | C | CCCCCCCG others(14): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 272 | 0.0037 | 21 | c.-54 others(30): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 521 | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128293660 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 272 | 0.0037 | 21 | c.786 others(40): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108560122 | A | AGGCGGCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0190a0001c0001t0020g0195 | 2 | 272 | 0.0074 | 21 | c.-30 others(30): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/11 | 284 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
EEPD1_chr7_36148254_36306538 | 36151852 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0086a0001c0001t0001g0109a0001c0001t0001g0147others(43): Show | 46 | 346 | 0.1330 | 21 | c.-20 others(32): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 1401 | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105570240 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 428 | 0.0023 | 21 | c.107 others(36): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89929031 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03669.hp1 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0024a0001c0002t0042 | a0001c0002t0003g0189a0001c0002t0024g0190a0001c0002t0042g0227 | 3 | 284 | 0.0106 | 21 | c.410 others(38): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89937862 | C | CATGTATA others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 284 | 0.0035 | 21 | c.218 others(38): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTTATC others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18997.hp1 NA19005.hp2 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0001a0006c0007t0010 | a0006c0007t0001g0060a0006c0007t0001g0063a0006c0007t0001g0064others(1): Show | 4 | 356 | 0.0112 | 21 | c.158 others(38): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB13_chr17_47318955_47446312 | 47424874 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0002others(2): Show | a0001c0001t0001g0087a0001c0001t0001g0150a0001c0006t0001g0098others(5): Show | 8 | 356 | 0.0225 | 21 | c.249 others(40): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EFCAB2_chr1_244964682_245092837 | 244980040 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 290 | 0.0035 | 21 | c.25+ others(36): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EFCAB6_chr22_43523778_43817305 | 43548539 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02293.hp2 NA20129.hp2 |
a0001a0031 | a0001c0001a0031c0022 | a0001c0001t0003a0031c0022t0001 | a0001c0001t0003g0002a0031c0022t0001g0237 | 2 | 290 | 0.0069 | 21 | c.364 others(40): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 27/31 | chr22 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32875502 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp2 others(10): Show |
a0001a0004a0006others(6): Show | a0001c0001a0004c0004a0006c0005others(6): Show | a0001c0001t0001a0004c0004t0003a0006c0005t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0241a0004c0004t0003g0066others(9): Show | 13 | 284 | 0.0458 | 21 | c.209 others(36): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EFHB_chr3_19874472_19939217 | 19908562 | A | AGAGAGAG others(14): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 344 | 0.0029 | 21 | c.128 others(40): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
EFHC1_chr6_52415342_52502198 | 52493385 | T | TATATATA others(14): Show |
3_prime_UTR_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0177 | 1 | 396 | 0.0025 | 21 | c.*10 others(32): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 11/11 | 1045 | chr6 | TogoVar | |||||
EFL1_chr15_82125233_82267734 | 82211592 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 368 | 0.0027 | 21 | c.175 others(40): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107435315 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0170 | 1 | 190 | 0.0053 | 21 | c.126 others(38): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
EFNB3_chr17_7700202_7716372 | 7714166 | T | TGTGTGTG others(14): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 434 | 0.0023 | 21 | c.*45 others(32): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2795 | chr17 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132000615 | C | CCTCTACT others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 412 | 0.0024 | 21 | c.215 others(40): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01070.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(3): Show | a0001c0001t0001g0206a0001c0001t0006g0153a0001c0003t0003g0036others(31): Show | 38 | 412 | 0.0922 | 21 | c.*72 others(32): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25046506 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18993.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0091a0001c0001t0003g0092a0001c0001t0012g0093others(1): Show | 4 | 306 | 0.0131 | 21 | c.7+4 others(34): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02602.hp2 NA18963.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0010 | a0001c0001t0001g0134a0001c0001t0001g0143a0001c0003t0010g0087others(1): Show | 4 | 306 | 0.0131 | 21 | c.8-1 others(36): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EFR3B_chr2_25037076_25164135 | 25131639 | C | CAGAGGAA others(14): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0037 | 1 | 306 | 0.0033 | 21 | c.986 others(35): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02074.hp1 HG02258.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0174a0001c0001t0001g0179others(10): Show | 13 | 302 | 0.0431 | 21 | c.118 others(38): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar |