view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFEMP2_chr11_65861441_65877800 | 65870258 | AGGAGGGC | A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG02083.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0007 a0006c0004t0001g0022 |
12 | 372 | 0.0323 | -7 | c.491 others(20): Show |
EFEMP2 | ENSG00000172638.13 | transcript | ENST00000307998.11 | protein_coding | 5/10 | chr11 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19921786 | CAGTTGTA | C | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG02818.hp1 others(6): Show |
a0008a0020 | a0008c0011a0020c0023 | a0008c0011t0001a0020c0023t0001 | a0008c0011t0001g0013 a0008c0011t0001g0014 a0008c0011t0001g0042 others(4): Show |
9 | 342 | 0.0263 | -7 | c.790 others(24): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
EFHC1_chr6_52415342_52502198 | 52459662 | TTTGTTTG | T | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03516.hp1 |
a0008 | a0008c0009 | a0008c0009t0046a0008c0009t0089a0008c0009t0091 | a0008c0009t0046g0281 a0008c0009t0089g0280 a0008c0009t0091g0278 |
3 | 392 | 0.0077 | -7 | c.917 others(24): Show |
EFHC1 | ENSG00000096093.16 | transcript | ENST00000371068.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EFHD1_chr2_232628604_232687776 | 232644942 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 NA18942.hp2 NA18951.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0004a0001c0001t0012a0001c0004t0004others(1): Show | a0001c0001t0004g0319 a0001c0001t0004g0352 a0001c0001t0004g0353 others(9): Show |
12 | 315 | 0.0381 | -7 | c.302 others(26): Show |
EFHD1 | ENSG00000115468.13 | transcript | ENST00000264059.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFHD2_chr1_15404888_15435339 | 15405939 | TCCAGTGC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0055 others(49): Show |
65 | 268 | 0.2425 | -7 | c.-40 others(18): Show |
EFHD2 | ENSG00000142634.13 | transcript | ENST00000375980.9 | protein_coding | 3948 | chr1 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1300241 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0057a0001c0001t0058others(1): Show | a0001c0001t0014g0132 a0001c0001t0014g0133 a0001c0001t0014g0153 others(3): Show |
6 | 54 | 0.1111 | -7 | c.*32 others(16): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 325 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107380373 | TTAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG00738.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0035others(7): Show | a0001c0001t0001g0071 a0001c0001t0001g0150 a0001c0001t0028g0042 others(9): Show |
12 | 115 | 0.1043 | -7 | c.*87 others(16): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 875 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107380374 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0045a0001c0001t0046others(2): Show | a0001c0001t0044g0037 a0001c0001t0045g0086 a0001c0001t0046g0011 others(2): Show |
5 | 115 | 0.0435 | -7 | c.*87 others(16): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 5/5 | 874 | chr5 | TogoVar | ||||||
EFNA5_chr5_107371894_107675937 | 107430770 | CTTTCTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0029 others(110): Show |
113 | 181 | 0.6243 | -7 | c.126 others(24): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107493196 | GTTGTTTT | G | intron_variant | MODIFIER | HG01192.hp1 HG02258.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0007g0089 a0001c0001t0007g0176 a0001c0001t0011g0178 others(7): Show |
10 | 190 | 0.0526 | -7 | c.126 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107556778 | AAATAAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG03195.hp1 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0043a0001c0001t0046others(3): Show | a0001c0001t0010g0038 a0001c0001t0043g0025 a0001c0001t0046g0011 others(3): Show |
6 | 190 | 0.0316 | -7 | c.125 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107592021 | ATATATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0074 a0001c0001t0004g0004 others(2): Show |
5 | 189 | 0.0265 | -7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107657858 | TAAAAACA | T | intron_variant | MODIFIER | HG00741.hp2 HG03579.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0039others(1): Show | a0001c0001t0010g0173 a0001c0001t0011g0178 a0001c0001t0039g0172 others(1): Show |
4 | 190 | 0.0211 | -7 | c.125 others(26): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106507623 | TAAAAAAA | T | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01884.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0171 others(9): Show |
15 | 348 | 0.0431 | -7 | c.406 others(24): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106532072 | AAAAAACC | A | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01243.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0005 a0001c0001t0003g0135 a0001c0001t0003g0144 others(18): Show |
27 | 354 | 0.0763 | -7 | c.122 others(24): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106540314 | CGGGGGTG | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0183 others(88): Show |
99 | 241 | 0.4108 | -7 | c.-53 others(18): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 131921795 | GAGTTAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0018a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(87): Show |
95 | 410 | 0.2317 | -7 | c.10+ others(24): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 131943886 | TGAGAGAG | T | intron_variant | MODIFIER | HG02738.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0144 a0001c0001t0006g0145 others(1): Show |
5 | 410 | 0.0122 | -7 | c.88- others(20): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 131990919 | CTTACCAT | C | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 |
3 | 409 | 0.0073 | -7 | c.206 others(26): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132008846 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01081.hp2 others(54): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(50): Show |
57 | 228 | 0.2500 | -7 | c.236 others(26): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0090 a0001c0001t0002g0120 a0001c0001t0003g0077 others(13): Show |
16 | 19 | 0.8421 | -7 | c.-10 others(18): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0156 others(38): Show |
41 | 46 | 0.8913 | -7 | c.635 others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFTUD2_chr17_44844948_44904445 | 44876855 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01070.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 a0001c0001t0005g0246 a0001c0001t0005g0247 others(11): Show |
16 | 91 | 0.1758 | -7 | c.703 others(22): Show |
EFTUD2 | ENSG00000108883.13 | transcript | ENST00000426333.7 | protein_coding | 9/27 | chr17 | TogoVar | |||||||
EGFL8_chr6_32159595_32173281 | 32166366 | ATGGGGGT | A | intron_variant | MODIFIER | HG01358.hp2 NA18945.hp1 NA18963.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 13 | 432 | 0.0301 | -7 | c.101 others(22): Show |
EGFL8 | ENSG00000241404.7 | transcript | ENST00000333845.11 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231383057 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG02258.hp1 others(9): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0007a0007c0008t0001 | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0082 others(8): Show |
12 | 111 | 0.1081 | -7 | c.892 others(24): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EHD2_chr19_47708422_47748134 | 47724981 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00544.hp2 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0024 others(21): Show |
24 | 27 | 0.8889 | -7 | c.503 others(22): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47745860 | CGTCGGGG | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(39): Show | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0024 others(266): Show |
273 | 396 | 0.6894 | -7 | c.*44 others(18): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 2727 | chr19 | TogoVar | |||||||
EHF_chr11_34616093_34668288 | 34618586 | TATCTATC | T | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0001t0014a0001c0001t0038others(4): Show | a0001c0001t0004g0368 a0001c0001t0014g0369 a0001c0001t0038g0200 others(4): Show |
7 | 408 | 0.0172 | -7 | c.-26 others(18): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2506 | chr11 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185213119 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00741.hp2 others(58): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(7): Show | a0001c0001t0001g0305 a0001c0001t0001g0324 a0001c0001t0003g0283 others(54): Show |
61 | 129 | 0.4729 | -7 | c.568 others(24): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 5/6 | chr3 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137740665 | CTACTATT | C | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp1 HG01884.hp2 others(20): Show |
a0001a0007 | a0001c0004a0001c0006a0001c0007others(3): Show | a0001c0004t0001a0001c0006t0001a0001c0007t0001others(3): Show | a0001c0004t0001g0081 a0001c0004t0001g0083 a0001c0004t0001g0097 others(20): Show |
23 | 168 | 0.1369 | -7 | c.824 others(24): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0025 | a0001c0006t0001a0001c0007t0001a0001c0025t0001 | a0001c0006t0001g0146 a0001c0007t0001g0052 a0001c0007t0001g0053 others(2): Show |
5 | 23 | 0.2174 | -7 | c.164 others(26): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EI24_chr11_125564477_125589684 | 125567753 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00733.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0012a0001c0002t0017others(1): Show | a0001c0002t0007g0099 a0001c0002t0012g0018 a0001c0002t0012g0030 others(10): Show |
16 | 255 | 0.0627 | -7 | c.-18 others(18): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 1723 | chr11 | TogoVar | |||||||
EI24_chr11_125564477_125589684 | 125584229 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0033 | a0001c0001t0016g0001 a0001c0001t0016g0004 a0001c0001t0016g0006 others(1): Show |
6 | 23 | 0.2609 | -7 | c.*57 others(16): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 11/11 | 573 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EIF1AD_chr11_65991545_66007157 | 66003579 | TCACTGAG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(189): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(22): Show |
192 | 392 | 0.4898 | -7 | c.-17 others(18): Show |
EIF1AD | ENSG00000175376.9 | transcript | ENST00000533544.6 | protein_coding | 1423 | chr11 | TogoVar | |||||||
EIF1AX_chrX_20119525_20146838 | 20119722 | TAAAAAAA | T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0049 a0001c0001t0002g0016 a0001c0001t0002g0107 others(8): Show |
13 | 152 | 0.0855 | -7 | c.*85 others(18): Show |
EIF1AX | ENSG00000173674.11 | transcript | ENST00000379607.10 | protein_coding | 4802 | chrX | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37126967 | GAAAAAAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 others(78): Show |
84 | 123 | 0.6829 | -7 | c.786 others(22): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 10/16 | chr2 | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37161216 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01891.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0013a0001c0001t0025others(2): Show | a0001c0001t0006g0092 a0001c0001t0013g0302 a0001c0001t0013g0303 others(5): Show |
8 | 147 | 0.0544 | -7 | c.-44 others(18): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4237 | chr2 | TogoVar | |||||||
EIF2AK2_chr2_37094210_37161980 | 37161313 | GAAAGAAA | G | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01167.hp2 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0174 a0001c0001t0001g0180 others(13): Show |
16 | 324 | 0.0494 | -7 | c.-45 others(18): Show |
EIF2AK2 | ENSG00000055332.19 | transcript | ENST00000233057.9 | protein_coding | 4334 | chr2 | TogoVar | |||||||
EIF2AK4_chr15_39929115_40040591 | 39984371 | TTTCCTAA | T | intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 NA18941.hp1 |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0003 | a0002c0004t0001g0257 a0002c0004t0003g0256 a0002c0004t0003g0263 |
3 | 366 | 0.0082 | -7 | c.232 others(26): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
EIF2AK4_chr15_39929115_40040591 | 40024403 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01891.hp1 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0030others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0243 a0001c0001t0003g0245 a0002c0002t0001g0035 others(21): Show |
24 | 247 | 0.0972 | -7 | c.439 others(26): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 32/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
EIF2B2_chr14_74997921_75017366 | 75004689 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(109): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0029 others(16): Show |
112 | 136 | 0.8235 | -7 | c.434 others(20): Show |
EIF2B2 | ENSG00000119718.11 | transcript | ENST00000266126.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EIF2B4_chr2_27359352_27375338 | 27361475 | TTTGTTTG | T | downstream_gene_variant | MODIFIER | HG01109.hp2 NA18955.hp1 NA18981.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0003t0001g0075 |
10 | 289 | 0.0346 | -7 | c.*29 others(18): Show |
EIF2B4 | ENSG00000115211.17 | transcript | ENST00000347454.9 | protein_coding | 2876 | chr2 | TogoVar | |||||||
EIF2S1_chr14_67355328_67391516 | 67362011 | TTTTTTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG01123.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0003g0009 a0001c0001t0003g0024 a0001c0001t0003g0137 others(26): Show |
35 | 366 | 0.0956 | -7 | c.-2+ others(22): Show |
EIF2S1 | ENSG00000134001.15 | transcript | ENST00000256383.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EIF3A_chr10_119028670_119085817 | 119032266 | TAAATACC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(110): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0112 a0001c0001t0002g0007 a0001c0001t0002g0032 others(110): Show |
113 | 347 | 0.3256 | -7 | c.*37 others(18): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 1403 | chr10 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2369765 | ATTTTTTT | A | intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0010 | a0001c0005a0001c0015a0010c0019 | a0001c0005t0001a0001c0015t0002a0010c0019t0001 | a0001c0005t0001g0027 a0001c0005t0001g0135 a0001c0005t0001g0136 others(4): Show |
8 | 30 | 0.2667 | -7 | c.161 others(24): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3CL_chr16_28374715_28408841 | 28407552 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02257.hp1 HG02280.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0018others(2): Show | a0001c0001t0001a0001c0012t0002a0002c0018t0001others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0097 a0001c0001t0001g0117 others(8): Show |
11 | 172 | 0.0640 | -7 | c.-38 others(18): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 3712 | chr16 | TogoVar | |||||||
EIF3CL_chr16_28374715_28408841 | 28407580 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | NA18971.hp2 NA18983.hp1 NA19091.hp1 |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0098 a0002c0007t0001g0114 a0002c0007t0001g0115 |
3 | 172 | 0.0174 | -7 | c.-38 others(18): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 3740 | chr16 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116638430 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(81): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0160 a0001c0001t0001g0239 a0001c0001t0001g0240 others(80): Show |
84 | 133 | 0.6316 | -7 | c.*65 others(18): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 3699 | chr8 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116686790 | AAAAAAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0019a0002c0002t0002 | a0001c0001t0002g0004 a0001c0001t0002g0248 a0001c0001t0002g0249 others(62): Show |
66 | 334 | 0.1976 | -7 | c.290 others(26): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
EIF3H_chr8_116637130_116760823 | 116720087 | GACCTTCA | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp1 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0001c0001t0019others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0248 a0001c0001t0002g0249 others(68): Show |
72 | 334 | 0.2156 | -7 | c.289 others(24): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar |