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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0209 others(7): Show |
12 | 331 | 0.0363 | 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 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0182 a0001c0001t0002g0218 a0002c0002t0001g0056 |
3 | 24 | 0.1250 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(6): Show |
9 | 68 | 0.1324 | 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 | a0001c0001t0001g0182 a0001c0002t0002g0185 a0001c0002t0002g0194 |
3 | 262 | 0.0115 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(20): Show |
30 | 150 | 0.2000 | 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(3): Show | a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0003g0079 others(7): Show |
10 | 38 | 0.2632 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0219 others(12): Show |
15 | 29 | 0.5172 | 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 | 16 | 0.1875 | 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 | a0001c0004t0010g0088 a0001c0008t0010g0329 a0001c0008t0011g0148 others(17): Show |
20 | 163 | 0.1227 | 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 | a0002c0002t0008a0002c0004t0021 | a0002c0002t0008g0123 a0002c0004t0021g0125 |
2 | 106 | 0.0189 | 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 | a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0107 |
3 | 33 | 0.0909 | 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 | a0001c0001t0003a0001c0001t0014a0001c0001t0024others(5): Show | a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0014g0003 others(8): Show |
11 | 28 | 0.3929 | 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 | a0001c0001t0005a0001c0001t0048a0003c0003t0007 | a0001c0001t0005g0120 a0001c0001t0048g0135 a0003c0003t0007g0029 |
3 | 12 | 0.2500 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0232 a0001c0001t0001g0233 others(50): Show |
56 | 351 | 0.1595 | 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 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0002g0002 others(62): Show |
77 | 135 | 0.5704 | 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 | a0001c0001t0002g0164 a0001c0001t0002g0272 a0002c0002t0001g0064 others(4): Show |
7 | 354 | 0.0198 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0004 |
8 | 113 | 0.0708 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(15): Show |
18 | 102 | 0.1765 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(67): Show |
71 | 268 | 0.2649 | 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 | a0001c0001t0002g0127 a0001c0001t0003g0011 a0001c0001t0003g0012 others(4): Show |
9 | 46 | 0.1957 | 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 | a0001c0001t0001g0059 a0001c0001t0001g0063 a0003c0003t0001g0074 |
3 | 80 | 0.0375 | 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 |
a0024a0025 | a0024c0036a0025c0014 | a0024c0036t0001a0025c0014t0001 | a0024c0036t0001g0003 a0025c0014t0001g0075 |
2 | 57 | 0.0351 | 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 | a0001c0001t0001g0061 a0002c0002t0001g0030 a0002c0002t0001g0031 others(5): Show |
8 | 79 | 0.1013 | 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 |
a0002a0014a0018 | a0002c0002a0014c0025a0018c0016 | a0002c0002t0001a0014c0025t0001a0018c0016t0001 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0014c0025t0001g0072 others(1): Show |
4 | 70 | 0.0571 | 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 |
a0002a0003a0012others(1): Show | a0002c0002a0003c0003a0012c0011others(1): Show | a0002c0002t0001a0003c0003t0001a0012c0011t0001others(1): Show | a0002c0002t0001g0056 a0003c0003t0001g0068 a0012c0011t0001g0020 others(1): Show |
4 | 58 | 0.0690 | 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 |
a0001a0003a0021others(1): Show | a0001c0001a0003c0003a0021c0027others(1): Show | a0001c0001t0001a0003c0003t0001a0021c0027t0001others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0063 a0003c0003t0001g0037 others(3): Show |
6 | 41 | 0.1463 | 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 | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0043 others(15): Show |
18 | 70 | 0.2571 | 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 |
a0003a0005a0007others(11): Show | a0003c0003a0005c0005a0007c0007others(11): Show | a0003c0003t0003a0003c0003t0008a0003c0003t0023others(15): Show | a0003c0003t0003g0006 a0003c0003t0003g0021 a0003c0003t0003g0024 others(42): Show |
53 | 414 | 0.1280 | 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 | a0001c0001t0001g0108 a0001c0001t0001g0151 a0001c0001t0001g0204 others(13): Show |
16 | 218 | 0.0734 | 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 | a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0227 others(7): Show |
10 | 270 | 0.0370 | 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 | a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0002g0183 others(5): Show |
8 | 26 | 0.3077 | 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 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0002 a0001c0002t0001g0075 a0001c0002t0001g0081 others(1): Show |
6 | 83 | 0.0723 | 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 | a0001c0001t0001g0027 a0001c0001t0002g0003 a0001c0003t0014g0049 others(3): Show |
6 | 16 | 0.3750 | 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(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0031 others(74): Show |
77 | 100 | 0.7700 | 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(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(2): Show | a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0007g0036 others(5): Show |
8 | 35 | 0.2286 | 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 | a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0009g0003 others(2): Show |
5 | 59 | 0.0847 | 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 | a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 |
3 | 102 | 0.0294 | 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(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0002g0030 others(10): Show |
13 | 41 | 0.3171 | 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 | a0001c0001t0003g0056 a0001c0001t0006g0053 |
2 | 102 | 0.0196 | 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(52): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(52): Show |
55 | 72 | 0.7639 | 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 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(1): Show |
4 | 198 | 0.0202 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(12): Show |
15 | 17 | 0.8824 | 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 | a0001c0001t0002g0144 a0002c0002t0003g0060 a0002c0002t0003g0062 others(5): Show |
8 | 249 | 0.0321 | 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 | a0001c0001t0032g0011 a0001c0003t0046g0094 |
2 | 20 | 0.1000 | 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 | a0001c0001t0001g0050 a0001c0001t0002g0053 a0001c0001t0002g0105 others(17): Show |
21 | 102 | 0.2059 | 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 | a0001c0001t0001g0026 a0001c0001t0004g0072 a0001c0001t0021g0047 others(2): Show |
5 | 190 | 0.0263 | 9 | c.962 others(30): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118073618 | G | GAGAAGAG others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0024a0001c0001t0063others(1): Show | a0001c0001t0012g0173 a0001c0001t0012g0175 a0001c0001t0024g0174 others(3): Show |
6 | 190 | 0.0316 | 9 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02523.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0005t0059others(1): Show | a0001c0001t0001g0022 a0001c0001t0005g0021 a0001c0001t0005g0036 others(3): Show |
6 | 27 | 0.2222 | 9 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47039835 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0237 a0001c0001t0002g0023 a0001c0001t0003g0040 others(3): Show |
6 | 61 | 0.0984 | 9 | c.415 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47112862 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0188 a0001c0001t0002g0202 a0001c0001t0002g0232 others(13): Show |
16 | 98 | 0.1633 | 9 | c.888 others(28): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |