| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EFNA4_chr1_155058740_155074553 | 155068427 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 334 | 0.0030 | -14 | c.470 others(29): Show |
EFNA4 | ENSG00000243364.8 | transcript | ENST00000368409.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| EFNA5_chr5_107371894_107675937 | 107482800 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02273.hp1 HG02630.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0104a0001c0001t0002g0081a0001c0001t0002g0158others(11): Show | 14 | 190 | 0.0737 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107482818 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0067 | a0001c0001t0056g0034a0001c0001t0067g0175 | 2 | 190 | 0.0105 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107482862 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0129 | 1 | 190 | 0.0053 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107482864 | CTCTCTCT others(7): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0096 | a0001c0001t0008g0125a0001c0001t0096g0062 | 2 | 190 | 0.0105 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107482866 | CTCTCTAT others(7): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 190 | 0.0053 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107490212 | GGTAACCA others(7): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0034a0001c0001t0040 | a0001c0001t0006g0033a0001c0001t0034g0131a0001c0001t0040g0186 | 3 | 190 | 0.0158 | -14 | c.126 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107592001 | TATATAAT others(7): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0052 | a0001c0001t0013g0008a0001c0001t0052g0108 | 2 | 190 | 0.0105 | -14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107606538 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0003g0183a0001c0001t0004g0040a0001c0001t0011g0038others(2): Show | 5 | 190 | 0.0263 | -14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNA5_chr5_107371894_107675937 | 107660261 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01496.hp2 HG02300.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0005a0001c0001t0003g0032a0001c0001t0004g0153others(5): Show | 8 | 190 | 0.0421 | -14 | c.125 others(33): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| EFNB1_chrX_68824021_68847160 | 68832811 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 335 | 0.0030 | -14 | c.128 others(31): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EFNB1_chrX_68824021_68847160 | 68838164 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02145.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0045a0001c0001t0002g0113a0001c0001t0002g0139others(3): Show | 7 | 335 | 0.0209 | -14 | c.129 others(29): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EFNB2_chr13_106484745_106540662 | 106486415 | CACATACA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 NA19030.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0037 | a0001c0001t0013g0013a0001c0001t0037g0177 | 3 | 356 | 0.0084 | -14 | c.*66 others(25): Show |
EFNB2 | ENSG00000125266.8 | transcript | ENST00000646441.1 | protein_coding | 3329 | chr13 | TogoVar | ||||||
| EFNB3_chr17_7700202_7716372 | 7714124 | CGTGTGTG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 434 | 0.0023 | -14 | c.*45 others(25): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2753 | chr17 | TogoVar | ||||||
| EFR3A_chr8_131899093_132018642 | 132010405 | GAGATATA others(7): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG03139.hp2 others(3): Show |
a0003a0006 | a0003c0004a0006c0008 | a0003c0004t0008a0003c0004t0017a0006c0008t0002 | a0003c0004t0008g0096a0003c0004t0008g0147a0003c0004t0008g0148others(3): Show | 6 | 412 | 0.0146 | -14 | c.236 others(31): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25041238 | CAAAAAAA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01257.hp2 HG02074.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0002g0043a0001c0001t0007g0013a0001c0001t0013g0022others(2): Show | 5 | 306 | 0.0163 | -14 | c.-10 others(25): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 837 | chr2 | TogoVar | ||||||
| EFR3B_chr2_25037076_25164135 | 25080283 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0131a0001c0001t0021g0139 | 2 | 306 | 0.0065 | -14 | c.8-1 others(29): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EFR3B_chr2_25037076_25164135 | 25124277 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01934.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(4): Show | a0001c0001t0007g0038a0001c0001t0007g0234a0001c0001t0015g0200others(7): Show | 10 | 306 | 0.0327 | -14 | c.485 others(31): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EGFL6_chrX_13564601_13638575 | 13577296 | TTTTATAT others(7): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0033 | 1 | 302 | 0.0033 | -14 | c.74+ others(29): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGFL6_chrX_13564601_13638575 | 13577329 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 302 | 0.0033 | -14 | c.74+ others(29): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGFL6_chrX_13564601_13638575 | 13625896 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(138): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0056others(136): Show | 141 | 302 | 0.4669 | -14 | c.128 others(33): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGFLAM_chr5_38253559_38470480 | 38264180 | CTGGAGAA others(7): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0146 | 1 | 190 | 0.0053 | -14 | c.97+ others(29): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| EGFLAM_chr5_38253559_38470480 | 38340847 | GGGGGGGT others(7): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01071.hp1 others(64): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0002a0001c0001t0001g0026a0001c0001t0001g0032others(64): Show | 67 | 190 | 0.3526 | -14 | c.291 others(31): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| EGFLAM_chr5_38253559_38470480 | 38441593 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0021 | a0021c0027 | a0021c0027t0007 | a0021c0027t0007g0159 | 1 | 190 | 0.0053 | -14 | c.246 others(33): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| EGFR_chr7_55014017_55216628 | 55027989 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0010 | a0001c0010t0058 | a0001c0010t0058g0182 | 1 | 250 | 0.0040 | -14 | c.88+ others(29): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EGFR_chr7_55014017_55216628 | 55130064 | GTGAAGCT others(7): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00621.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0026others(12): Show | a0001c0001t0002g0024a0001c0001t0002g0034a0001c0001t0002g0046others(23): Show | 26 | 250 | 0.1040 | -14 | c.89- others(31): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EGF_chr4_109907883_110018766 | 109919287 | GTCTCTCT others(7): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00673.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0026a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0002g0059a0001c0001t0003g0073a0001c0001t0003g0074others(9): Show | 12 | 388 | 0.0309 | -14 | c.127 others(31): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EGF_chr4_109907883_110018766 | 109927806 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193a0002c0002t0001g0202 | 2 | 388 | 0.0052 | -14 | c.128 others(33): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EGF_chr4_109907883_110018766 | 109992170 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03491.hp2 NA19003.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0006a0001c0007t0002 | a0001c0001t0002g0130a0001c0001t0006g0113a0001c0007t0002g0089 | 3 | 388 | 0.0077 | -14 | c.273 others(33): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EGLN1_chr1_231358756_231427287 | 231359053 | ATTATATA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0116 | 1 | 338 | 0.0030 | -14 | c.*73 others(25): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4702 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231359054 | TTATATAT others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01981.hp2 HG02132.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0013 | a0001c0001t0002g0264a0001c0001t0002g0266a0001c0001t0002g0270others(6): Show | 9 | 338 | 0.0266 | -14 | c.*73 others(25): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4701 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231373669 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0134a0001c0001t0001g0152 | 4 | 338 | 0.0118 | -14 | c.101 others(31): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231391092 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0125a0002c0002t0002g0078 | 2 | 338 | 0.0059 | -14 | c.892 others(33): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01981.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(4): Show | a0001c0001t0001g0145a0001c0001t0001g0165a0001c0001t0001g0166others(14): Show | 17 | 338 | 0.0503 | -14 | c.891 others(31): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN1_chr1_231358756_231427287 | 231413572 | AACGTGCC others(7): Show |
A | intron_variant | MODIFIER | NA18953.hp2 NA19002.hp1 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0009 | a0001c0001t0009g0252a0001c0001t0009g0253a0002c0002t0009g0057 | 3 | 338 | 0.0089 | -14 | c.891 others(31): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| EGLN3_chr14_33919227_33956074 | 33935586 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 424 | 0.0024 | -14 | c.358 others(31): Show |
EGLN3 | ENSG00000129521.15 | transcript | ENST00000250457.9 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
| EHBP1_chr2_62700713_63051487 | 62773850 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp2 HG02040.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0024a0001c0001t0002g0080a0001c0001t0002g0086others(1): Show | 4 | 198 | 0.0202 | -14 | c.312 others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHBP1_chr2_62700713_63051487 | 62820737 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG02071.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0147 | 2 | 198 | 0.0101 | -14 | c.313 others(31): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHBP1_chr2_62700713_63051487 | 62889047 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 198 | 0.0051 | -14 | c.118 others(35): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47716415 | CTGTGACC others(7): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0302a0001c0002t0003g0291others(7): Show | 10 | 398 | 0.0251 | -14 | c.-55 others(29): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47721162 | GGGGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004 | a0001c0002t0002g0034a0001c0002t0003g0002a0001c0002t0003g0029others(5): Show | 9 | 398 | 0.0226 | -14 | c.502 others(31): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47722009 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02683.hp2 HG03579.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0002a0001c0002t0006a0001c0003t0002others(1): Show | a0001c0002t0002g0001a0001c0002t0006g0305a0001c0003t0002g0136others(3): Show | 7 | 398 | 0.0176 | -14 | c.502 others(31): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| EHD2_chr19_47708422_47748134 | 47746158 | ATATGTGT others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0041 | 1 | 398 | 0.0025 | -14 | c.*47 others(25): Show |
EHD2 | ENSG00000024422.12 | transcript | ENST00000263277.8 | protein_coding | 3025 | chr19 | TogoVar | ||||||
| EHD3_chr2_31229152_31274451 | 31247793 | ACCCTGAC others(7): Show |
A | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0299 | 1 | 378 | 0.0027 | -14 | c.405 others(31): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | chr2 | TogoVar | ||||||
| EHD3_chr2_31229152_31274451 | 31266761 | TACACACA others(7): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02040.hp1 NA18986.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0036a0001c0001t0072 | a0001c0001t0013g0214a0001c0001t0013g0215a0001c0001t0013g0217others(4): Show | 7 | 378 | 0.0185 | -14 | c.*77 others(21): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 6/6 | 77 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| EHD3_chr2_31229152_31274451 | 31273953 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp1 HG03831.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0041 | a0001c0001t0001g0054a0001c0001t0001g0113a0001c0001t0001g0137others(1): Show | 4 | 378 | 0.0106 | -14 | c.*72 others(25): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 4503 | chr2 | TogoVar | ||||||
| EHD4_chr15_41890933_41977557 | 41902825 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 360 | 0.0028 | -14 | c.109 others(33): Show |
EHD4 | ENSG00000103966.11 | transcript | ENST00000220325.9 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
| EHF_chr11_34616093_34668288 | 34646027 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 410 | 0.0024 | -14 | c.98- others(27): Show |
EHF | ENSG00000135373.13 | transcript | ENST00000257831.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| EHHADH_chr3_185185624_185259049 | 185251608 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0015 | a0015c0019 | a0015c0019t0012 | a0015c0019t0012g0278 | 1 | 348 | 0.0029 | -14 | c.74+ others(29): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137768529 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03486.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0078a0001c0003t0001g0084others(1): Show | 4 | 170 | 0.0235 | -14 | c.164 others(33): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |