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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC3L2_chr19_45207370_45250407 | 45221201 | TTTTTTTG others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(52): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0112 others(50): Show |
55 | 353 | 0.1558 | -9 | c.172 others(28): Show |
EXOC3L2 | ENSG00000283632.4 | transcript | ENST00000413988.3 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0002t0001g0009 others(10): Show |
25 | 51 | 0.4902 | -9 | c.-18 others(20): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 441954 | CTTTGGCA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0043 others(14): Show |
39 | 416 | 0.0938 | -9 | c.-13 others(20): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1221 | chr5 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443229 | GGGCGGCG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0120 a0001c0001t0001g0122 others(1): Show |
8 | 85 | 0.0941 | -9 | c.-77 others(16): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2928 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC3_chr5_438176_472290 | 470024 | TAGTGTTC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0005 a0001c0002t0003g0018 a0001c0002t0003g0042 others(7): Show |
23 | 416 | 0.0553 | -9 | c.*31 others(20): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 2735 | chr5 | TogoVar | |||||||
EXOC4_chr7_133248078_134070761 | 133336715 | TTTTATTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01943.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 others(15): Show |
18 | 100 | 0.1800 | -9 | c.763 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133579891 | TTGGCCAG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01255.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0052 a0001c0001t0005g0051 a0001c0002t0001g0008 others(9): Show |
12 | 100 | 0.1200 | -9 | c.141 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133755255 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0034 a0001c0002t0001g0086 |
2 | 98 | 0.0204 | -9 | c.151 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133844378 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0003g0056 others(3): Show |
6 | 56 | 0.1071 | -9 | c.173 others(30): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 134069229 | CTTCTCCT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01255.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0006a0001c0001t0009a0001c0002t0006others(4): Show | a0001c0001t0006g0059 a0001c0001t0009g0001 a0001c0002t0006g0065 others(6): Show |
9 | 100 | 0.0900 | -9 | c.*47 others(20): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 3469 | chr7 | TogoVar | |||||||
EXOC5_chr14_57195507_57273905 | 57201531 | CACCACAC others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0016a0001c0002t0019 | a0001c0002t0011g0002 a0001c0002t0016g0048 a0001c0002t0016g0049 others(3): Show |
9 | 212 | 0.0425 | -9 | c.*70 others(20): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 18/18 | 7069 | chr14 | TogoVar | ||||||
EXOC5_chr14_57195507_57273905 | 57242138 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01123.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(2): Show | a0001c0002t0002g0097 a0001c0002t0003g0004 a0001c0002t0003g0072 others(11): Show |
15 | 212 | 0.0708 | -9 | c.465 others(26): Show |
EXOC5 | ENSG00000070367.17 | transcript | ENST00000621441.5 | protein_coding | 4/17 | chr14 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72496948 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(4): Show | a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0034 others(8): Show |
11 | 23 | 0.4783 | -9 | c.133 others(26): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 13/21 | chr2 | TogoVar | |||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0012 a0001c0001t0002g0031 a0001c0001t0003g0007 others(2): Show |
10 | 77 | 0.1299 | -9 | c.*34 others(20): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | |||||||
EXOSC6_chr16_70241778_70256940 | 70248771 | CTTTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02109.hp2 others(21): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0012a0002c0002t0020a0002c0002t0022others(6): Show | a0002c0002t0012g0000 a0002c0002t0020g0000 a0002c0002t0022g0000 others(6): Show |
24 | 234 | 0.1026 | -9 | c.*23 others(20): Show |
EXOSC6 | ENSG00000223496.3 | transcript | ENST00000435634.3 | protein_coding | 1/1 | 2302 | chr16 | TogoVar | ||||||
EXOSC7_chr3_44971244_45016471 | 45005138 | TTGACAGG others(2): Show |
T | intron_variant | MODIFIER | NA18984.hp1 NA18991.hp1 NA18998.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0156 a0001c0001t0001g0157 |
13 | 338 | 0.0385 | -9 | c.492 others(24): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117790869 | AAACAACA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01243.hp2 HG01515.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0049a0001c0001t0051others(7): Show | a0001c0001t0005g0037 a0001c0001t0005g0048 a0001c0001t0005g0049 others(13): Show |
17 | 81 | 0.2099 | -9 | c.*88 others(20): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 3620 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117819576 | CGGGGAGC others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01943.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0002g0053 a0001c0001t0002g0105 a0001c0001t0002g0107 others(24): Show |
27 | 190 | 0.1421 | -9 | c.153 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117899974 | GCAAAATG others(2): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0064a0001c0006t0004 | a0001c0001t0006g0115 a0001c0001t0064g0177 a0001c0006t0004g0020 |
3 | 190 | 0.0158 | -9 | c.963 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44097764 | ATAAATAA others(2): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG04204.hp2 NA18945.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0003g0302 a0001c0001t0008g0003 a0001c0001t0008g0243 others(9): Show |
13 | 332 | 0.0392 | -9 | c.-31 others(26): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44170848 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02615.hp1 NA18972.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0013a0001c0002t0004 | a0001c0001t0008g0245 a0001c0001t0013g0007 a0001c0002t0004g0057 |
3 | 332 | 0.0090 | -9 | c.117 others(26): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44215865 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01109.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(9): Show | a0001c0001t0003g0190 a0001c0001t0003g0213 a0001c0001t0003g0230 others(46): Show |
51 | 211 | 0.2417 | -9 | c.166 others(28): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28709497 | CCTCCTGT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0059 | a0001c0001t0020g0305 a0001c0001t0020g0306 a0001c0001t0020g0313 others(1): Show |
4 | 378 | 0.0106 | -9 | c.-56 others(28): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46908870 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02129.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0002g0011 a0001c0001t0002g0210 others(6): Show |
9 | 26 | 0.3462 | -9 | c.-11 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47121075 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02572.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0137 others(11): Show |
14 | 215 | 0.0651 | -9 | c.889 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47186348 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01361.hp1 HG01884.hp2 others(23): Show |
a0001 | a0001c0002a0001c0004a0001c0009 | a0001c0002t0001a0001c0004t0001a0001c0009t0001 | a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0001g0063 others(23): Show |
26 | 138 | 0.1884 | -9 | c.153 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28003270 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00597.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0211 a0001c0001t0001g0274 a0001c0001t0001g0275 others(65): Show |
68 | 186 | 0.3656 | -9 | c.993 others(26): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 11/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133332711 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00642.hp2 others(82): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0060 others(82): Show |
85 | 178 | 0.4775 | -9 | c.34- others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133483698 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0004g0049 a0001c0001t0004g0134 a0001c0001t0004g0135 others(11): Show |
14 | 144 | 0.0972 | -9 | c.119 others(26): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63723788 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp2 HG02630.hp2 others(4): Show |
a0003a0004a0006others(3): Show | a0003c0008a0003c0021a0004c0024others(4): Show | a0003c0008t0002a0003c0021t0001a0004c0024t0001others(4): Show | a0003c0008t0002g0020 a0003c0021t0001g0008 a0004c0024t0001g0001 others(4): Show |
7 | 11 | 0.6364 | -9 | c.823 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 42/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63859075 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 HG03209.hp1 |
a0011a0012a0020 | a0011c0010a0012c0016a0020c0020 | a0011c0010t0001a0012c0016t0001a0020c0020t0002 | a0011c0010t0001g0015 a0012c0016t0001g0003 a0020c0020t0002g0022 |
3 | 11 | 0.2727 | -9 | c.722 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63902771 | ATATTGAC others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03195.hp2 |
a0002a0006a0019 | a0002c0009a0006c0017a0019c0023 | a0002c0009t0001a0006c0017t0001a0019c0023t0001 | a0002c0009t0001g0012 a0006c0017t0001g0002 a0019c0023t0001g0010 |
3 | 24 | 0.1250 | -9 | c.705 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64470565 | CACATAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(7): Show |
a0002a0003a0006others(6): Show | a0002c0009a0003c0008a0003c0021others(7): Show | a0002c0009t0001a0003c0008t0002a0003c0021t0001others(7): Show | a0002c0009t0001g0012 a0003c0008t0002g0020 a0003c0021t0001g0008 others(7): Show |
10 | 24 | 0.4167 | -9 | c.564 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64670438 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0002a0003c0008a0003c0021others(2): Show | a0001c0002t0002a0003c0008t0002a0003c0021t0001others(2): Show | a0001c0002t0002g0019 a0003c0008t0002g0020 a0003c0021t0001g0008 others(2): Show |
5 | 24 | 0.2083 | -9 | c.344 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 22/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 65369298 | TTATGTAT others(2): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02886.hp2 |
a0002a0010 | a0002c0009a0010c0015 | a0002c0009t0001a0010c0015t0002 | a0002c0009t0001g0012 a0010c0015t0002g0023 |
2 | 24 | 0.0833 | -9 | c.129 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | |||||||
EZH1_chr17_42695275_42750040 | 42711890 | AGCAGCAG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(218): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(191): Show |
221 | 332 | 0.6657 | -9 | c.140 others(26): Show |
EZH1 | ENSG00000108799.13 | transcript | ENST00000428826.7 | protein_coding | 12/20 | chr17 | TogoVar | |||||||
EZH2_chr7_148802383_148889291 | 148859505 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG02056.hp1 NA18953.hp1 NA18954.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0076 a0001c0001t0002g0077 others(4): Show |
7 | 119 | 0.0588 | -9 | c.-7- others(26): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
F10_chr13_113117799_113154529 | 113140073 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0001 | a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 others(3): Show |
7 | 113 | 0.0619 | -9 | c.370 others(24): Show |
F10 | ENSG00000126218.12 | transcript | ENST00000375559.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
F11R_chr1_160990211_161026152 | 161005167 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0031 | a0001c0001t0006g0033 a0001c0001t0006g0239 a0001c0001t0006g0241 others(5): Show |
9 | 159 | 0.0566 | -9 | c.65- others(24): Show |
F11R | ENSG00000158769.19 | transcript | ENST00000368026.11 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
F11_chr4_186261189_186294681 | 186280856 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 HG01517.hp1 others(22): Show |
a0001a0002a0009 | a0001c0005a0002c0007a0009c0019 | a0001c0005t0002a0001c0005t0011a0001c0005t0015others(2): Show | a0001c0005t0002g0009 a0001c0005t0002g0016 a0001c0005t0002g0044 others(12): Show |
25 | 112 | 0.2232 | -9 | c.113 others(26): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
F11_chr4_186261189_186294681 | 186292800 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp1 others(82): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0017a0001c0003t0004others(5): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0040 others(44): Show |
85 | 319 | 0.2665 | -9 | c.*41 others(20): Show |
F11 | ENSG00000088926.15 | transcript | ENST00000403665.7 | protein_coding | 3120 | chr4 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6173404 | CTTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(135): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0008 a0001c0001t0001g0059 a0001c0001t0001g0065 others(135): Show |
138 | 253 | 0.5455 | -9 | c.174 others(28): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 12/14 | chr6 | TogoVar | |||||||
F8_chrX_154830792_155027723 | 154919465 | AAGTAGCA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00733.hp1 others(39): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0002a0001c0003t0006others(1): Show | a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0148 others(39): Show |
42 | 231 | 0.1818 | -9 | c.521 others(28): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 14/25 | chrX | TogoVar | |||||||
F8_chrX_154830792_155027723 | 154972699 | CTGTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02809.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004 | a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0004g0023 others(2): Show |
5 | 231 | 0.0216 | -9 | c.788 others(26): Show |
F8 | ENSG00000185010.15 | transcript | ENST00000360256.9 | protein_coding | 6/25 | chrX | TogoVar | |||||||
FA2H_chr16_74707969_74779820 | 74740620 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0097 a0001c0001t0001g0107 others(83): Show |
94 | 167 | 0.5629 | -9 | c.271 others(24): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
FA2H_chr16_74707969_74779820 | 74741830 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0046 others(26): Show |
30 | 386 | 0.0777 | -9 | c.271 others(26): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
FAAH2_chrX_57281706_57494193 | 57301607 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(230): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(229): Show |
233 | 248 | 0.9395 | -9 | c.276 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAH2_chrX_57281706_57494193 | 57347604 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG01175.hp1 HG01346.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(19): Show |
22 | 24 | 0.9167 | -9 | c.742 others(26): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAAP100_chr17_81534891_81557353 | 81542166 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18747.hp2 NA18959.hp2 others(6): Show |
a0002a0016 | a0002c0002a0016c0025 | a0002c0002t0002a0016c0025t0002 | a0002c0002t0002g0016 a0002c0002t0002g0018 a0016c0025t0002g0083 |
9 | 408 | 0.0221 | -9 | c.242 others(26): Show |
FAAP100 | ENSG00000185504.17 | transcript | ENST00000327787.13 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FADS1_chr11_61794627_61822003 | 61799115 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0013 others(4): Show |
16 | 53 | 0.3019 | -9 | c.*32 others(20): Show |
FADS1 | ENSG00000149485.19 | transcript | ENST00000350997.12 | protein_coding | 511 | chr11 | TogoVar |