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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EHBP1_chr2_62700713_63051487 | 63043920 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0169a0001c0001t0001g0192a0001c0001t0002g0088others(3): Show | 6 | 198 | 0.0303 | 5 | c.327 others(24): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD1_chr11_64846642_64883621 | 64858190 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(215): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(106): Show | 218 | 354 | 0.6158 | 5 | c.915 others(22): Show |
EHD1 | ENSG00000110047.18 | transcript | ENST00000320631.8 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47725396 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG03195.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0008others(1): Show | a0001c0002t0002g0213a0001c0002t0003g0028a0001c0002t0003g0029others(3): Show | 6 | 398 | 0.0151 | 5 | c.503 others(20): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD2_chr19_47708422_47748134 | 47731314 | A | ATATAT | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0009 | a0001c0002t0002g0168a0001c0002t0002g0320a0001c0002t0004g0169others(1): Show | 4 | 398 | 0.0101 | 5 | c.916 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47733751 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0007others(2): Show | a0001c0001t0001g0338a0001c0002t0004g0144a0001c0002t0004g0145others(3): Show | 7 | 398 | 0.0176 | 5 | c.916 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31264533 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0044others(3): Show | a0001c0001t0002g0197a0001c0001t0013g0214a0001c0001t0044g0196others(3): Show | 6 | 378 | 0.0159 | 5 | c.108 others(24): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHD3_chr2_31229152_31274451 | 31270016 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01346.hp1 HG01981.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0052a0001c0001t0080 | a0001c0001t0017g0047a0001c0001t0017g0071a0001c0001t0017g0094others(3): Show | 6 | 378 | 0.0159 | 5 | c.*33 others(16): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 566 | chr2 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41893099 | G | GCCCAT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01928.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0304a0001c0001t0001g0314a0001c0001t0001g0337others(28): Show | 31 | 360 | 0.0861 | 5 | c.*75 others(16): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2833 | chr15 | TogoVar | ||||||
EHD4_chr15_41890933_41977557 | 41952998 | C | CAAAAA | intron_variant | MODIFIER | HG01361.hp2 HG02056.hp1 HG02602.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0052a0001c0002t0003others(4): Show | a0001c0001t0001g0057a0001c0001t0001g0066a0001c0001t0001g0067others(7): Show | 10 | 360 | 0.0278 | 5 | c.413 others(20): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
EHF_chr11_34616093_34668288 | 34635450 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00621.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0116a0001c0001t0001g0117a0001c0001t0001g0121others(50): Show | 58 | 410 | 0.1415 | 5 | c.-3- others(20): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EHHADH_chr3_185185624_185259049 | 185213119 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(46): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0007others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0130others(44): Show | 49 | 348 | 0.1408 | 5 | c.568 others(22): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 5/6 | chr3 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185253772 | A | AAAAAG | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01169.hp1 others(10): Show |
a0001a0003a0007others(1): Show | a0001c0001a0003c0003a0007c0010others(1): Show | a0001c0001t0001a0003c0003t0001a0007c0010t0003others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0022others(10): Show | 13 | 348 | 0.0374 | 5 | c.74+ others(18): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137616205 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG02602.hp2 HG02965.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0002t0001g0141a0001c0004t0001g0139a0001c0004t0001g0153others(3): Show | 6 | 170 | 0.0353 | 5 | c.-28 others(16): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2799 | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137648491 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG01981.hp2 HG02258.hp1 others(10): Show |
a0001a0008 | a0001c0003a0001c0005a0001c0006others(5): Show | a0001c0003t0001a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0003t0001g0084a0001c0005t0001g0063a0001c0006t0001g0154others(10): Show | 13 | 170 | 0.0765 | 5 | c.21+ others(22): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137836371 | G | GTGTGT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02145.hp1 others(10): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0018others(1): Show | a0001c0003t0001a0001c0006t0001a0001c0018t0001others(1): Show | a0001c0003t0001g0001a0001c0003t0001g0078a0001c0003t0001g0084others(10): Show | 13 | 170 | 0.0765 | 5 | c.*14 others(16): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 245 | chr9 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125584229 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0001a0001c0001t0014g0006a0001c0001t0014g0007others(3): Show | 6 | 362 | 0.0166 | 5 | c.*57 others(14): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 11/11 | 580 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
EID2B_chr19_39525987_39537852 | 39528212 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02027.hp2 NA18985.hp1 NA18985.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0000a0001c0004t0002g0000 | 6 | 418 | 0.0144 | 5 | c.*41 others(16): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 2774 | chr19 | TogoVar | ||||||
EID2B_chr19_39525987_39537852 | 39528823 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp2 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0002g0000a0001c0001t0004g0000a0001c0001t0006g0000others(2): Show | 54 | 418 | 0.1292 | 5 | c.*34 others(16): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 2163 | chr19 | TogoVar | ||||||
EID3_chr12_104298739_104310205 | 104302486 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(209): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0008g0000others(8): Show | 212 | 418 | 0.5072 | 5 | c.-14 others(16): Show |
EID3 | ENSG00000255150.2 | transcript | ENST00000527879.2 | protein_coding | 1252 | chr12 | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20122369 | C | CAAAAA | downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0155 | 1 | 278 | 0.0036 | 5 | c.*59 others(16): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 2155 | chrX | TogoVar | ||||||
EIF1AX_chrX_20119525_20146838 | 20130302 | C | CAAAAA | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 278 | 0.0036 | 5 | c.429 others(20): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 6/6 | chrX | TogoVar | ||||||
EIF1AY_chrY_20570776_20598154 | 20594259 | T | TCCCTC | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 133 | 0.0075 | 5 | c.*19 others(16): Show |
EIF1AY | ENSG00000198692.10 | transcript | ENST00000361365.7 | protein_coding | 1106 | chrY | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056598 | G | GAAAAA | intron_variant | MODIFIER | NA18941.hp1 NA18961.hp1 NA18999.hp2 others(4): Show |
a0002a0009a0011 | a0002c0003a0009c0013a0011c0014 | a0002c0003t0001a0009c0013t0001a0011c0014t0001 | a0002c0003t0001g0241a0002c0003t0001g0242a0002c0003t0001g0243others(4): Show | 7 | 418 | 0.0168 | 5 | c.119 others(22): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056611 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154a0001c0002t0001g0200a0001c0002t0001g0210others(2): Show | 5 | 418 | 0.0120 | 5 | c.119 others(22): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | ATATAT | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0030a0003c0005t0001 | a0001c0002t0001g0166a0001c0002t0001g0221a0001c0002t0030g0393others(2): Show | 5 | 418 | 0.0120 | 5 | c.119 others(22): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37142130 | A | ATATTT | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00738.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0013a0001c0001t0014others(16): Show | a0001c0001t0004g0114a0001c0001t0004g0115a0001c0001t0004g0116others(28): Show | 31 | 326 | 0.0951 | 5 | c.241 others(20): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
EIF2AK2_chr2_37094210_37161980 | 37144881 | C | CTTTGT | intron_variant | MODIFIER | HG00280.hp2 HG02602.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032a0001c0001t0033 | a0001c0001t0014g0007a0001c0001t0014g0008a0001c0001t0014g0009others(2): Show | 5 | 326 | 0.0153 | 5 | c.240 others(22): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
EIF2AK3_chr2_88551741_88632464 | 88584527 | G | GAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG01934.hp1 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0117a0001c0004t0001g0119a0001c0004t0001g0120others(7): Show | 10 | 366 | 0.0273 | 5 | c.165 others(22): Show |
EIF2AK3 | ENSG00000172071.15 | transcript | ENST00000303236.9 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 40009069 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(92): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0020others(12): Show | a0001c0001t0002a0001c0005t0001a0001c0005t0002others(23): Show | a0001c0001t0002g0223a0001c0005t0001g0032a0001c0005t0001g0034others(91): Show | 95 | 368 | 0.2582 | 5 | c.357 others(22): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 25/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
EIF2AK4_chr15_39929115_40040591 | 40037279 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02615.hp1 HG02717.hp1 others(3): Show |
a0003a0004a0008 | a0003c0003a0004c0006a0008c0015 | a0003c0003t0006a0004c0006t0006a0008c0015t0006 | a0003c0003t0006g0105a0004c0006t0006g0252a0004c0006t0006g0253others(3): Show | 6 | 368 | 0.0163 | 5 | c.*21 others(16): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 1689 | chr15 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44877192 | T | TAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0003a0001c0001t0002g0029a0001c0001t0002g0031others(28): Show | 31 | 322 | 0.0963 | 5 | c.976 others(22): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44877192 | T | TTAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01069.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0267a0001c0001t0001g0270others(19): Show | 22 | 322 | 0.0683 | 5 | c.976 others(22): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44934399 | A | AAAAAC | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0160others(1): Show | 4 | 322 | 0.0124 | 5 | c.454 others(22): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44942415 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0029a0001c0001t0002g0034a0001c0001t0002g0054others(9): Show | 12 | 322 | 0.0373 | 5 | c.295 others(20): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
EIF2B3_chr1_44845522_44991595 | 44984797 | C | CTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG01884.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(1): Show | a0001c0001t0001g0250a0001c0001t0001g0251a0001c0002t0001g0133others(27): Show | 30 | 322 | 0.0932 | 5 | c.-10 others(22): Show |
EIF2B3 | ENSG00000070785.17 | transcript | ENST00000360403.7 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
EIF2D_chr1_206586642_206617465 | 206607974 | A | AAAAAT | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(11): Show | 19 | 426 | 0.0446 | 5 | c.422 others(20): Show |
EIF2D | ENSG00000143486.16 | transcript | ENST00000271764.7 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
EIF2S1_chr14_67355328_67391516 | 67368734 | T | TTAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(245): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0009others(183): Show | 248 | 368 | 0.6739 | 5 | c.241 others(22): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EIF2S2_chr20_34083309_34117243 | 34091776 | T | TTTGGG | intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG01517.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0108others(18): Show | 30 | 362 | 0.0829 | 5 | c.741 others(22): Show |
EIF2S2 | ENSG00000125977.7 | transcript | ENST00000374980.3 | protein_coding | 7/8 | chr20 | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24070439 | G | GTTTGT | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 294 | 0.0034 | 5 | c.101 others(24): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EIF2S3_chrX_24049956_24083810 | 24074859 | C | CTTTTT | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 294 | 0.0034 | 5 | c.135 others(24): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EIF2S3_chrX_24049956_24083810 | 24074862 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0002t0001others(1): Show | a0001c0001t0007g0192a0001c0001t0011g0131a0001c0002t0001g0179others(2): Show | 6 | 294 | 0.0204 | 5 | c.135 others(24): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EIF2S3_chrX_24049956_24083810 | 24076926 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01243.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031a0001c0001t0032 | a0001c0001t0003g0008a0001c0001t0003g0013a0001c0001t0003g0014others(13): Show | 21 | 294 | 0.0714 | 5 | c.*15 others(14): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 12/12 | 163 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
EIF2S3_chrX_24049956_24083810 | 24079401 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0001a0001c0001t0003g0008a0001c0001t0003g0013others(8): Show | 15 | 294 | 0.0510 | 5 | c.*26 others(16): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 592 | chrX | TogoVar | ||||||
EIF2S3_chrX_24049956_24083810 | 24081626 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0009 | 2 | 294 | 0.0068 | 5 | c.*48 others(16): Show |
EIF2S3 | ENSG00000130741.11 | transcript | ENST00000253039.9 | protein_coding | 2817 | chrX | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119048165 | G | GAGTAC | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp2 HG02165.hp2 others(25): Show |
a0001a0004a0010 | a0001c0002a0004c0007a0010c0020 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0002g0278a0001c0002t0003g0004a0001c0002t0003g0023others(24): Show | 28 | 350 | 0.0800 | 5 | c.265 others(24): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 17/21 | chr10 | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119068670 | A | AAAAAT | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02615.hp1 |
a0001a0008 | a0001c0002a0008c0019 | a0001c0002t0003a0008c0019t0007 | a0001c0002t0003g0275a0001c0002t0003g0277a0008c0019t0007g0276 | 3 | 350 | 0.0086 | 5 | c.950 others(20): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 6/21 | chr10 | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119072432 | G | GGTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02886.hp2 others(4): Show |
a0001a0003 | a0001c0002a0001c0006a0003c0004 | a0001c0002t0003a0001c0006t0007a0003c0004t0009 | a0001c0002t0003g0291a0001c0006t0007g0305a0001c0006t0007g0306others(4): Show | 7 | 350 | 0.0200 | 5 | c.541 others(20): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 4/21 | chr10 | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119082296 | C | CCCCCG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0152a0001c0001t0001g0156others(37): Show | 40 | 350 | 0.1143 | 5 | c.-16 others(16): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 1480 | chr10 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2367825 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0030a0001c0001t0001g0031others(26): Show | 30 | 384 | 0.0781 | 5 | c.140 others(22): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EIF3B_chr7_2349827_2385745 | 2382505 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(89): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(88): Show | 92 | 384 | 0.2396 | 5 | c.*23 others(16): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 1761 | chr7 | TogoVar |