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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFNA4_chr1_155058740_155074553 | 155059153 | T | TCTCCTCA others(4): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 334 | 0.0030 | 11 | c.-46 others(22): Show |
EFNA4 | ENSG00000243364.8 | transcript | ENST00000368409.8 | protein_coding | 4586 | chr1 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107395034 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG01243.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037a0001c0001t0045others(6): Show | a0001c0001t0003g0070 a0001c0001t0037g0129 a0001c0001t0045g0026 others(6): Show |
9 | 190 | 0.0474 | 11 | c.419 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107395052 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0189 | 1 | 190 | 0.0053 | 11 | c.419 others(28): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107623027 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0009 | 1 | 190 | 0.0053 | 11 | c.125 others(30): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB2_chr13_106484745_106540662 | 106540314 | C | CGGGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 356 | 0.0028 | 11 | c.-53 others(22): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 4653 | chr13 | TogoVar | |||||||
EFNB3_chr17_7700202_7716372 | 7705698 | T | TACTGGAA others(4): Show |
frameshift_variant | HIGH | NA18957.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0008 | 1 | 434 | 0.0023 | 11 | c.101 others(18): Show |
p.Ala others(4): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 1/5 | 509/3216 | 112/1023 | 38/340 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
EFNB3_chr17_7700202_7716372 | 7714149 | G | GTGTGTGT others(4): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 434 | 0.0023 | 11 | c.*45 others(22): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2778 | chr17 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013969 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0038 a0001c0003t0003g0050 a0001c0003t0003g0054 others(1): Show |
4 | 412 | 0.0097 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 328 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013975 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02165.hp2 HG04228.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0185 a0001c0001t0001g0191 others(3): Show |
7 | 412 | 0.0170 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 334 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0036 | 1 | 412 | 0.0024 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 NA18977.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0055 a0001c0003t0003g0071 |
2 | 412 | 0.0049 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | AAATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG02071.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0164 a0001c0001t0001g0216 |
3 | 412 | 0.0073 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132013977 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02602.hp1 NA18990.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0020a0004c0005t0001 | a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0001g0181 others(2): Show |
5 | 412 | 0.0121 | 11 | c.*30 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 336 | chr8 | TogoVar | |||||||
EFR3A_chr8_131899093_132018642 | 132018174 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0003 | a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0124 others(4): Show |
8 | 412 | 0.0194 | 11 | c.*72 others(22): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 4533 | chr8 | TogoVar | |||||||
EFR3B_chr2_25037076_25164135 | 25080283 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0204 | 1 | 306 | 0.0033 | 11 | c.8-1 others(26): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25092958 | A | AGCCATAG others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0212 a0001c0004t0014g0213 a0001c0004t0014g0214 |
3 | 306 | 0.0098 | 11 | c.85- others(22): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13623377 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0147 | 1 | 302 | 0.0033 | 11 | c.118 others(28): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13626752 | T | TCTTTGTG others(4): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0065 | 1 | 302 | 0.0033 | 11 | c.128 others(28): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55087273 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0011a0001c0019t0006 | a0001c0001t0001g0104 a0001c0001t0011g0189 a0001c0019t0006g0115 |
3 | 250 | 0.0120 | 11 | c.89- others(28): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55204634 | C | CCACACAC others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02572.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0055a0001c0003t0001others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 others(19): Show |
22 | 250 | 0.0880 | 11 | c.327 others(28): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109970824 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0019 | a0001c0019t0007 | a0001c0019t0007g0139 | 1 | 388 | 0.0026 | 11 | c.172 others(30): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231383057 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0305 | 1 | 338 | 0.0030 | 11 | c.892 others(28): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231406165 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01257.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 others(22): Show |
26 | 338 | 0.0769 | 11 | c.891 others(30): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231412011 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0118 | 1 | 338 | 0.0030 | 11 | c.891 others(28): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EGR3_chr8_22682659_22698480 | 22685424 | T | TGTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 374 | 0.0027 | 11 | c.*50 others(22): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2234 | chr8 | TogoVar | |||||||
EGR3_chr8_22682659_22698480 | 22685572 | G | GCAAAGCC others(4): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 374 | 0.0027 | 11 | c.*49 others(22): Show |
EGR3 | ENSG00000179388.9 | transcript | ENST00000317216.3 | protein_coding | 2086 | chr8 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62894927 | A | AGAGAGAG others(4): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 198 | 0.0051 | 11 | c.118 others(32): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62957641 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03453.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0181 |
3 | 198 | 0.0152 | 11 | c.246 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63043920 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 198 | 0.0051 | 11 | c.327 others(30): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47725396 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0222 | 1 | 398 | 0.0025 | 11 | c.503 others(26): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03831.hp1 NA20752.hp1 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0361 a0001c0008t0005g0363 a0001c0008t0005g0383 |
3 | 398 | 0.0075 | 11 | c.915 others(28): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47731279 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0283 | 1 | 398 | 0.0025 | 11 | c.915 others(28): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD2_chr19_47708422_47748134 | 47733751 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01496.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0002 | a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0026 others(15): Show |
18 | 398 | 0.0452 | 11 | c.916 others(28): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0239 | 1 | 378 | 0.0027 | 11 | c.228 others(26): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31243460 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0002g0162 a0001c0001t0002g0195 a0001c0001t0002g0197 others(6): Show |
9 | 378 | 0.0238 | 11 | c.228 others(26): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHHADH_chr3_185185624_185259049 | 185194800 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01070.hp2 others(21): Show |
a0001a0016 | a0001c0001a0016c0016 | a0001c0001t0001a0016c0016t0001 | a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0091 others(21): Show |
24 | 348 | 0.0690 | 11 | c.911 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 6/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185213119 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18982.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0042 a0003c0003t0001g0039 |
2 | 348 | 0.0058 | 11 | c.568 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 5/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 |
2 | 348 | 0.0058 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG02683.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0130 a0001c0001t0001g0155 others(9): Show |
14 | 348 | 0.0402 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01069.hp1 others(11): Show |
a0001a0016 | a0001c0001a0016c0016 | a0001c0001t0001a0016c0016t0001 | a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0164 others(11): Show |
14 | 348 | 0.0402 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAAAATAT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18989.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0255 a0001c0001t0001g0266 |
3 | 348 | 0.0086 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | AAATATAT others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18906.hp2 |
a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0259 a0010c0012t0001g0260 |
2 | 348 | 0.0058 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHHADH_chr3_185185624_185259049 | 185228257 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0182 | 1 | 348 | 0.0029 | 11 | c.463 others(28): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137675802 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0057 a0001c0003t0001g0060 a0001c0009t0001g0061 |
3 | 170 | 0.0177 | 11 | c.22- others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137742289 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 170 | 0.0059 | 11 | c.824 others(28): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 4/26 | chr9 | TogoVar | |||||||
EI24_chr11_125564477_125589684 | 125584229 | C | CAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0005 | 1 | 362 | 0.0028 | 11 | c.*56 others(20): Show |
EI24 | ENSG00000149547.15 | transcript | ENST00000278903.11 | protein_coding | 11/11 | 580 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EID2B_chr19_39525987_39537852 | 39529272 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00609.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 |
41 | 418 | 0.0981 | 11 | c.*30 others(22): Show |
EID2B | ENSG00000176401.6 | transcript | ENST00000326282.5 | protein_coding | 1714 | chr19 | TogoVar | |||||||
EID3_chr12_104298739_104310205 | 104302486 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01943.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0000 a0001c0002t0007g0000 |
12 | 418 | 0.0287 | 11 | c.-14 others(22): Show |
EID3 | ENSG00000255150.2 | transcript | ENST00000527879.2 | protein_coding | 1252 | chr12 | TogoVar | |||||||
EIF2AK1_chr7_6017247_6064175 | 6056613 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03130.hp2 |
a0001a0002 | a0001c0002a0002c0013 | a0001c0002t0001a0002c0013t0001 | a0001c0002t0001g0204 a0002c0013t0001g0227 |
2 | 418 | 0.0048 | 11 | c.119 others(28): Show |
EIF2AK1 | ENSG00000086232.13 | transcript | ENST00000199389.11 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
EIF2AK4_chr15_39929115_40040591 | 40017501 | C | CATATATA others(4): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0250 | 1 | 368 | 0.0027 | 11 | c.406 others(28): Show |
EIF2AK4 | ENSG00000128829.12 | transcript | ENST00000263791.10 | protein_coding | 29/38 | chr15 | TogoVar |