| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ESRRG_chr1_216498251_216728429 | 216547253 | T | TTGATGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0097a0001c0001t0001g0199a0001c0001t0001g0204others(71): Show | 74 | 286 | 0.2587 | 9 | c.862 others(28): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| ESRRG_chr1_216498251_216728429 | 216625423 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01433.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0093a0001c0001t0001g0095a0001c0001t0001g0096others(43): Show | 46 | 286 | 0.1608 | 9 | c.589 others(28): Show |
ESRRG | ENSG00000196482.18 | transcript | ENST00000408911.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158736163 | G | GAAACCCA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(162): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0004a0002c0009others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(31): Show | a0002c0002t0001g0181a0002c0002t0002g0037a0002c0002t0002g0227others(161): Show | 165 | 370 | 0.4460 | 9 | c.240 others(26): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 20/22 | chr7 | TogoVar | ||||||
| ESYT2_chr7_158725997_158834509 | 158738312 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01175.hp1 others(6): Show |
a0002a0003 | a0002c0004a0003c0003a0003c0016 | a0002c0004t0003a0002c0004t0037a0003c0003t0004others(3): Show | a0002c0004t0003g0200a0002c0004t0003g0201a0002c0004t0003g0211others(6): Show | 9 | 370 | 0.0243 | 9 | c.226 others(26): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 19/22 | chr7 | TogoVar | ||||||
| ETF1_chr5_138501095_138548236 | 138545924 | T | TTATTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02683.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0010a0001c0001t0002g0237a0001c0001t0002g0295others(8): Show | 12 | 334 | 0.0359 | 9 | c.-28 others(20): Show |
ETF1 | ENSG00000120705.13 | transcript | ENST00000360541.10 | protein_coding | 2689 | chr5 | TogoVar | ||||||
| ETFDH_chr4_158667296_158714623 | 158709019 | T | TGTGTGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG03130.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0017a0001c0001t0033a0002c0002t0017 | a0001c0001t0017g0204a0001c0001t0033g0251a0002c0002t0017g0047 | 3 | 298 | 0.0101 | 9 | c.*49 others(18): Show |
ETFDH | ENSG00000171503.13 | transcript | ENST00000511912.6 | protein_coding | 13/13 | 493 | chr4 | TogoVar | |||||
| ETHE1_chr19_43501719_43532201 | 43518999 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02040.hp2 HG03831.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0104a0001c0001t0001g0105others(6): Show | 9 | 408 | 0.0221 | 9 | c.375 others(26): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
| ETS1_chr11_128453765_128592558 | 128584977 | A | AGAAAGAA others(2): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03669.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0147a0001c0002t0002g0154a0001c0002t0002g0159 | 3 | 286 | 0.0105 | 9 | c.-15 others(26): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ETV4_chr17_43522846_43551340 | 43548656 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01081.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0009others(20): Show | 30 | 398 | 0.0754 | 9 | c.-25 others(20): Show |
ETV4 | ENSG00000175832.13 | transcript | ENST00000319349.10 | protein_coding | 2317 | chr17 | TogoVar | ||||||
| ETV5_chr3_186041314_186114089 | 186066262 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01496.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0226a0001c0001t0002g0230a0001c0001t0003g0085others(7): Show | 10 | 340 | 0.0294 | 9 | c.651 others(24): Show |
ETV5 | ENSG00000244405.8 | transcript | ENST00000306376.10 | protein_coding | 7/12 | chr3 | TogoVar | ||||||
| ETV6_chr12_11644674_11900377 | 11883276 | C | CTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0218a0001c0001t0003g0041a0001c0001t0004g0211others(12): Show | 15 | 262 | 0.0573 | 9 | c.101 others(28): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| EVA1B_chr1_36317030_36328645 | 36318898 | A | AAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG02738.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 406 | 0.0074 | 9 | c.*33 others(20): Show |
EVA1B | ENSG00000142694.7 | transcript | ENST00000490466.2 | protein_coding | 3131 | chr1 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5790180 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01123.hp2 others(17): Show |
a0001a0004a0005others(4): Show | a0001c0004a0001c0008a0001c0009others(10): Show | a0001c0004t0010a0001c0008t0010a0001c0008t0011others(13): Show | a0001c0004t0010g0088a0001c0008t0010g0329a0001c0008t0011g0148others(17): Show | 20 | 369 | 0.0542 | 9 | c.177 others(28): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| EVI5_chr1_92503696_92790108 | 92550779 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18982.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0007a0002c0004t0021 | a0002c0002t0007g0125a0002c0004t0021g0127 | 2 | 168 | 0.0119 | 9 | c.216 others(30): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
| EVI5_chr1_92503696_92790108 | 92550781 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02300.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0103a0001c0001t0001g0109 | 3 | 168 | 0.0179 | 9 | c.216 others(30): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
| EVI5_chr1_92503696_92790108 | 92710086 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0018a0001c0001t0020others(6): Show | a0001c0001t0016g0014a0001c0001t0018g0016a0001c0001t0020g0002others(8): Show | 11 | 168 | 0.0655 | 9 | c.150 others(26): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 2/19 | chr1 | TogoVar | ||||||
| EVI5_chr1_92503696_92790108 | 92766096 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03225.hp1 NA19077.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0057a0003c0003t0006 | a0001c0001t0008g0122a0001c0001t0057g0048a0003c0003t0006g0032 | 3 | 168 | 0.0179 | 9 | c.-82 others(28): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
| EVL_chr14_100060422_100149236 | 100074002 | C | CGGGGGCG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00597.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0232a0001c0001t0001g0233others(50): Show | 56 | 354 | 0.1582 | 9 | c.11+ others(24): Show |
EVL | ENSG00000196405.13 | transcript | ENST00000392920.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| EVPL_chr17_76001845_76032306 | 76004219 | G | GTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01069.hp2 others(74): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0006a0003c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0002c0006t0001others(19): Show | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0002g0002others(62): Show | 77 | 404 | 0.1906 | 9 | c.*28 others(20): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 2625 | chr17 | TogoVar | ||||||
| EVPL_chr17_76001845_76032306 | 76021411 | C | CCCGCCCC others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG03927.hp2 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0002c0002t0001a0002c0006t0001others(2): Show | a0001c0001t0002g0164a0001c0001t0002g0272a0002c0002t0001g0064others(4): Show | 7 | 404 | 0.0173 | 9 | c.101 others(24): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 9/21 | chr17 | TogoVar | ||||||
| EVX2_chr2_176072472_176088962 | 176084421 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 HG01257.hp2 HG01928.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0004 | 8 | 430 | 0.0186 | 9 | c.-64 others(18): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | ||||||
| EXD1_chr15_41177728_41235757 | 41203916 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02027.hp2 HG02109.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(15): Show | 18 | 318 | 0.0566 | 9 | c.534 others(26): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 7/11 | chr15 | TogoVar | ||||||
| EXD1_chr15_41177728_41235757 | 41211795 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01109.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(67): Show | 71 | 318 | 0.2233 | 9 | c.448 others(26): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 6/11 | chr15 | TogoVar | ||||||
| EXD2_chr14_69186498_69249018 | 69206455 | C | CCTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0123a0001c0001t0003g0079a0001c0001t0003g0126others(6): Show | 9 | 234 | 0.0385 | 9 | c.-48 others(26): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328968 | G | GGGGTCAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG02165.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0059a0001c0001t0001g0063a0003c0003t0001g0073 | 3 | 82 | 0.0366 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328971 | A | ACTACACG others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03017.hp1 |
a0020a0029 | a0020c0014a0029c0036 | a0020c0014t0001a0029c0036t0001 | a0020c0014t0001g0074a0029c0036t0001g0003 | 2 | 82 | 0.0244 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329060 | G | GGGGTCAC others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG02129.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0061a0002c0002t0001g0030a0002c0002t0001g0031others(5): Show | 8 | 82 | 0.0976 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329367 | G | GGGGCTAC others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG02976.hp1 others(1): Show |
a0002a0023a0026 | a0002c0002a0023c0016a0026c0025 | a0002c0002t0001a0023c0016t0001a0026c0025t0001 | a0002c0002t0001g0030a0002c0002t0001g0031a0023c0016t0001g0019others(1): Show | 4 | 82 | 0.0488 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329381 | A | ACTACACG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01993.hp2 HG02004.hp1 others(1): Show |
a0002a0003a0011others(1): Show | a0002c0002a0003c0003a0011c0011others(1): Show | a0002c0002t0001a0003c0003t0001a0011c0011t0001others(1): Show | a0002c0002t0001g0056a0003c0003t0001g0068a0011c0011t0001g0020others(1): Show | 4 | 82 | 0.0488 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329443 | A | ACTACACG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00741.hp1 others(3): Show |
a0001a0003a0013others(1): Show | a0001c0001a0003c0003a0013c0027others(1): Show | a0001c0001t0001a0003c0003t0001a0013c0027t0001others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0063a0003c0003t0001g0037others(3): Show | 6 | 82 | 0.0732 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137345661 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01069.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0043others(15): Show | 18 | 82 | 0.2195 | 9 | c.199 others(28): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXO1_chr1_241843204_241894939 | 241894812 | A | AGTAGAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003a0005a0008others(11): Show | a0003c0003a0005c0005a0008c0007others(11): Show | a0003c0003t0003a0003c0003t0008a0003c0003t0023others(15): Show | a0003c0003t0003g0006a0003c0003t0003g0020a0003c0003t0003g0023others(42): Show | 53 | 416 | 0.1274 | 9 | c.*52 others(20): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 4874 | chr1 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 501369 | C | CTATATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01517.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0108a0001c0001t0001g0151a0001c0001t0001g0204others(13): Show | 16 | 272 | 0.0588 | 9 | c.238 others(28): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 608685 | G | GCCTAACA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02717.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0162a0001c0001t0002g0166a0001c0001t0002g0227others(7): Show | 10 | 272 | 0.0368 | 9 | c.742 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 687171 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01517.hp2 HG01891.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0181a0001c0001t0001g0184a0001c0001t0002g0183others(5): Show | 8 | 272 | 0.0294 | 9 | c.-44 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 443229 | G | GGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02165.hp2 HG03017.hp1 NA18947.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0012a0002c0005t0012 | a0001c0002t0012g0002a0001c0002t0012g0075a0001c0002t0012g0081others(1): Show | 6 | 418 | 0.0144 | 9 | c.-77 others(16): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2927 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| EXOC4_chr7_133248078_134070761 | 133629530 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02071.hp2 HG02080.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0014others(3): Show | a0001c0001t0001g0027a0001c0001t0002g0003a0001c0003t0014g0049others(3): Show | 6 | 102 | 0.0588 | 9 | c.141 others(26): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 134069213 | T | TCTTCTTC others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0031others(75): Show | 78 | 102 | 0.7647 | 9 | c.*46 others(20): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 3453 | chr7 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72189860 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01981.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0002g0056a0001c0001t0002g0061a0001c0001t0007g0042others(6): Show | 9 | 104 | 0.0865 | 9 | c.219 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72265239 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0009a0001c0002t0024others(1): Show | a0001c0002t0001g0006a0001c0002t0001g0007a0001c0002t0009g0003others(2): Show | 5 | 104 | 0.0481 | 9 | c.219 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72391713 | T | TCTCATAT others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064a0001c0002t0002g0065a0001c0002t0002g0066 | 3 | 104 | 0.0289 | 9 | c.198 others(30): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72508184 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01256.hp2 HG01515.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0051a0001c0001t0001g0054a0001c0001t0002g0034others(11): Show | 14 | 104 | 0.1346 | 9 | c.116 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 11/21 | chr2 | TogoVar | ||||||
| EXOC6B_chr2_72170984_72831033 | 72717704 | A | ATAACATG others(2): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0057a0001c0001t0006g0055 | 2 | 104 | 0.0192 | 9 | c.669 others(24): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | ||||||
| EXOC6_chr10_92843520_93064490 | 92948573 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01123.hp2 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(53): Show | 56 | 288 | 0.1944 | 9 | c.141 others(26): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| EXOC6_chr10_92843520_93064490 | 92966281 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01993.hp2 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153a0001c0001t0001g0154a0001c0001t0001g0155others(1): Show | 4 | 288 | 0.0139 | 9 | c.177 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01433.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(12): Show | 15 | 288 | 0.0521 | 9 | c.217 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02647.hp1 HG02896.hp1 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0007others(1): Show | a0001c0001t0002a0002c0002t0003a0002c0002t0013others(3): Show | a0001c0001t0002g0143a0002c0002t0003g0079a0002c0002t0003g0080others(5): Show | 8 | 314 | 0.0255 | 9 | c.444 others(26): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117844137 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0032a0001c0003t0046 | a0001c0001t0032g0011a0001c0003t0046g0094 | 2 | 190 | 0.0105 | 9 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117867260 | G | GGAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01943.hp2 HG01952.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0028a0001c0001t0002g0053a0001c0001t0002g0105others(17): Show | 21 | 190 | 0.1105 | 9 | c.963 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
| EXT1_chr8_117789490_118116826 | 117986188 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01261.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(2): Show | a0001c0001t0001g0045a0001c0001t0004g0072a0001c0001t0021g0025others(2): Show | 5 | 190 | 0.0263 | 9 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar |