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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC6_chr10_92843520_93064490 | 92858022 | T | TCCCCC | intron_variant | MODIFIER | HG01433.hp2 HG01978.hp2 HG01993.hp2 others(19): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0002 | a0001c0001t0001g0174a0001c0001t0001g0195a0001c0001t0002g0002others(19): Show | 22 | 288 | 0.0764 | 5 | c.101 others(22): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 92984999 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp1 HG01256.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0046others(26): Show | 29 | 288 | 0.1007 | 5 | c.195 others(26): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC7_chr17_76076016_76108787 | 76077966 | C | CGGGGG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00741.hp2 others(28): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(27): Show | 31 | 366 | 0.0847 | 5 | c.*56 others(16): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 3049 | chr17 | TogoVar | ||||||
EXOC7_chr17_76076016_76108787 | 76105991 | T | TGTACA | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02074.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0163a0001c0001t0001g0168 | 3 | 366 | 0.0082 | 5 | c.-23 others(16): Show |
EXOC7 | ENSG00000182473.22 | transcript | ENST00000589210.6 | protein_coding | 2205 | chr17 | TogoVar | ||||||
EXOSC4_chr8_144073672_144085648 | 144075229 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02300.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0003a0001c0002t0001g0003a0003c0004t0001g0003 | 20 | 302 | 0.0662 | 5 | c.-35 others(16): Show |
EXOSC4 | ENSG00000178896.9 | transcript | ENST00000316052.6 | protein_coding | 3442 | chr8 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108508004 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(48): Show |
a0002a0005a0017others(2): Show | a0002c0002a0005c0005a0005c0040others(5): Show | a0002c0002t0003a0002c0002t0007a0002c0002t0029others(8): Show | a0002c0002t0003g0048a0002c0002t0003g0049a0002c0002t0003g0062others(48): Show | 51 | 314 | 0.1624 | 5 | c.*15 others(16): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 6/6 | 1532 | chr11 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATA | intron_variant | MODIFIER | HG01167.hp2 HG03130.hp2 NA18962.hp1 |
a0002a0017a0025 | a0002c0002a0017c0016a0025c0043 | a0002c0002t0003a0017c0016t0003a0025c0043t0004 | a0002c0002t0003g0150a0017c0016t0003g0007a0025c0043t0004g0207 | 3 | 314 | 0.0096 | 5 | c.444 others(22): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108561351 | C | CTTGTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(181): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0033a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(52): Show | a0001c0001t0001g0140a0001c0001t0001g0157a0001c0001t0001g0167others(179): Show | 184 | 314 | 0.5860 | 5 | c.120 others(24): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117829569 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG03098.hp2 HG03831.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0011a0001c0005t0002others(2): Show | a0001c0001t0001g0141a0001c0004t0011g0138a0001c0005t0002g0115others(2): Show | 5 | 190 | 0.0263 | 5 | c.128 others(22): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 4/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0009a0001c0001t0012others(11): Show | a0001c0001t0004g0055a0001c0001t0004g0072a0001c0001t0009g0159others(14): Show | 17 | 190 | 0.0895 | 5 | c.963 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117915855 | C | CAAACA | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0079others(25): Show | 29 | 190 | 0.1526 | 5 | c.963 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117938487 | A | ATAAAT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02055.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0016others(18): Show | a0001c0001t0006g0156a0001c0001t0015g0089a0001c0001t0015g0092others(22): Show | 25 | 190 | 0.1316 | 5 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117948320 | C | CAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0006g0156a0001c0001t0015g0089a0001c0001t0016g0035others(3): Show | 6 | 190 | 0.0316 | 5 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117973800 | A | AGAAAG | intron_variant | MODIFIER | HG02132.hp2 HG02809.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0002a0001c0003t0017a0001c0005t0057 | a0001c0002t0002g0129a0001c0003t0017g0186a0001c0005t0057g0132 | 3 | 190 | 0.0158 | 5 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117973886 | G | GAAAGA | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0113a0001c0001t0001g0116a0001c0001t0002g0105others(21): Show | 25 | 190 | 0.1316 | 5 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118073632 | A | AAGAAG | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0145a0001c0001t0003g0042a0001c0002t0002g0046others(6): Show | 10 | 190 | 0.0526 | 5 | c.962 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118073705 | A | AAGAGG | intron_variant | MODIFIER | HG02132.hp1 HG02523.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0004others(4): Show | a0001c0001t0003g0057a0001c0001t0005g0026a0001c0001t0005g0027others(5): Show | 8 | 190 | 0.0421 | 5 | c.962 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02015.hp1 HG02074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0113a0001c0001t0001g0116a0001c0001t0003g0114others(15): Show | 18 | 190 | 0.0947 | 5 | c.962 others(24): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44147775 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(109): Show |
a0001a0005a0006 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0158a0001c0001t0001g0165a0001c0001t0001g0176others(107): Show | 112 | 334 | 0.3353 | 5 | 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 | 44235250 | T | TTTTTG | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02572.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0009a0003c0006t0003 | a0001c0001t0003g0178a0001c0001t0003g0182a0001c0001t0003g0188others(4): Show | 7 | 334 | 0.0210 | 5 | c.193 others(24): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 12/13 | chr11 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28729292 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp2 others(70): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0007a0001c0002t0009others(14): Show | a0001c0002t0002g0001a0001c0002t0002g0005a0001c0002t0002g0014others(62): Show | 73 | 380 | 0.1921 | 5 | c.214 others(24): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EXTL3_chr8_28696501_28760599 | 28734695 | T | TAAAAC | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19240.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0028a0006c0011t0082 | a0001c0001t0028g0316a0001c0001t0028g0317a0006c0011t0082g0040 | 3 | 380 | 0.0079 | 5 | c.227 others(24): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71338097 | C | CTTATA | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0006t0001others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0133a0001c0001t0003g0010others(4): Show | 7 | 232 | 0.0302 | 5 | c.125 others(22): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71338105 | A | ATAGAT | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0006t0001others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0133a0001c0001t0003g0010others(4): Show | 7 | 232 | 0.0302 | 5 | c.125 others(22): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46981911 | G | GTAATA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(178): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0020others(178): Show | 181 | 238 | 0.7605 | 5 | c.-10 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46991968 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp2 HG01175.hp1 others(44): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0035a0001c0001t0001g0138others(44): Show | 47 | 238 | 0.1975 | 5 | c.109 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47023632 | G | GTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01175.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0035a0001c0001t0001g0138a0001c0001t0001g0155others(15): Show | 18 | 238 | 0.0756 | 5 | c.415 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47166393 | T | TTAAAA | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0003 | a0001c0001t0002g0090a0001c0001t0003g0013a0001c0001t0003g0053others(4): Show | 7 | 238 | 0.0294 | 5 | c.979 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47167280 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02559.hp1 NA18940.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0092a0001c0001t0003g0112a0001c0001t0003g0116others(3): Show | 6 | 238 | 0.0252 | 5 | c.979 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47180059 | G | GTCTCA | intron_variant | MODIFIER | NA18992.hp2 NA18993.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0087a0001c0001t0001g0117a0001c0001t0001g0193others(1): Show | 4 | 238 | 0.0168 | 5 | c.131 others(22): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28084596 | T | TATATA | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0145a0001c0001t0003g0078a0001c0001t0003g0079others(3): Show | 6 | 392 | 0.0153 | 5 | c.-69 others(22): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133299714 | A | AAAAAT | intron_variant | MODIFIER | HG00609.hp1 HG01168.hp1 HG01891.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0253a0001c0001t0002g0098others(16): Show | 19 | 264 | 0.0720 | 5 | c.33+ others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133332711 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01256.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0106a0001c0001t0001g0196a0001c0001t0003g0108others(6): Show | 9 | 264 | 0.0341 | 5 | c.34- others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133357270 | C | CAAAAA | intron_variant | MODIFIER | HG01952.hp1 HG02280.hp1 HG02451.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0011a0001c0001t0020a0001c0001t0028others(9): Show | a0001c0001t0011g0083a0001c0001t0020g0089a0001c0001t0028g0142others(12): Show | 15 | 264 | 0.0568 | 5 | c.34- others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133394290 | T | TTTTTG | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0043a0002c0002t0003a0002c0002t0005others(2): Show | a0001c0001t0043g0082a0002c0002t0003g0138a0002c0002t0005g0052others(2): Show | 5 | 264 | 0.0189 | 5 | c.83+ others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01099.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0113others(18): Show | 21 | 264 | 0.0796 | 5 | c.84- others(22): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63768098 | T | TAAAGG | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02896.hp2 others(3): Show |
a0011a0013a0014others(3): Show | a0011c0001a0013c0020a0014c0004others(3): Show | a0011c0001t0001a0013c0020t0002a0014c0004t0002others(3): Show | a0011c0001t0001g0013a0013c0020t0002g0022a0014c0004t0002g0024others(3): Show | 6 | 24 | 0.2500 | 5 | c.789 others(24): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 40/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63872769 | T | TGCCTG | intron_variant | MODIFIER | HG01169.hp2 HG02622.hp1 HG02809.hp2 others(1): Show |
a0003a0009a0017 | a0003c0002a0003c0019a0009c0006others(1): Show | a0003c0002t0002a0003c0019t0001a0009c0006t0001others(1): Show | a0003c0002t0002g0019a0003c0019t0001g0006a0009c0006t0001g0004others(1): Show | 4 | 24 | 0.1667 | 5 | c.705 others(24): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 35/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64011989 | T | TTCCTC | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG02896.hp1 others(2): Show |
a0001a0005a0016others(2): Show | a0001c0012a0005c0010a0016c0014others(2): Show | a0001c0012t0002a0005c0010t0001a0016c0014t0001others(2): Show | a0001c0012t0002g0021a0005c0010t0001g0015a0016c0014t0001g0005others(2): Show | 5 | 24 | 0.2083 | 5 | c.672 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 33/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64177010 | G | GCTACA | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02809.hp2 others(9): Show |
a0001a0004a0005others(9): Show | a0001c0009a0004c0017a0005c0010others(9): Show | a0001c0009t0001a0004c0017t0001a0005c0010t0001others(9): Show | a0001c0009t0001g0012a0004c0017t0001g0002a0005c0010t0001g0015others(9): Show | 12 | 24 | 0.5000 | 5 | c.642 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64185194 | T | TCATAG | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02809.hp2 others(7): Show |
a0004a0005a0006others(7): Show | a0004c0017a0005c0010a0006c0022others(7): Show | a0004c0017t0001a0005c0010t0001a0006c0022t0001others(7): Show | a0004c0017t0001g0002a0005c0010t0001g0015a0006c0022t0001g0011others(7): Show | 10 | 24 | 0.4167 | 5 | c.642 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64207670 | C | CTTTAT | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02809.hp2 others(7): Show |
a0004a0005a0006others(7): Show | a0004c0017a0005c0010a0006c0022others(7): Show | a0004c0017t0001a0005c0010t0001a0006c0022t0001others(7): Show | a0004c0017t0001g0002a0005c0010t0001g0015a0006c0022t0001g0011others(7): Show | 10 | 24 | 0.4167 | 5 | c.642 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64245316 | G | GTGTTT | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(7): Show |
a0002a0004a0006others(6): Show | a0002c0008a0002c0021a0004c0017others(7): Show | a0002c0008t0002a0002c0021t0001a0004c0017t0001others(7): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0004c0017t0001g0002others(7): Show | 10 | 24 | 0.4167 | 5 | c.619 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64246018 | C | CAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(2): Show |
a0002a0004a0006others(1): Show | a0002c0008a0002c0021a0004c0017others(2): Show | a0002c0008t0002a0002c0021t0001a0004c0017t0001others(2): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0004c0017t0001g0002others(2): Show | 5 | 24 | 0.2083 | 5 | c.619 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295389 | G | GCAGAA | intron_variant | MODIFIER | HG01169.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0003a0005a0009others(3): Show | a0003c0019a0005c0010a0009c0006others(3): Show | a0003c0019t0001a0005c0010t0001a0009c0006t0001others(3): Show | a0003c0019t0001g0006a0005c0010t0001g0015a0009c0006t0001g0004others(3): Show | 6 | 24 | 0.2500 | 5 | c.619 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295412 | A | AAGCAG | intron_variant | MODIFIER | HG01169.hp2 HG02965.hp1 |
a0003a0012 | a0003c0019a0012c0005 | a0003c0019t0001a0012c0005t0001 | a0003c0019t0001g0006a0012c0005t0001g0014 | 2 | 24 | 0.0833 | 5 | c.619 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64295413 | A | AGAAGC | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02965.hp2 others(1): Show |
a0003a0014a0015others(1): Show | a0003c0002a0014c0004a0015c0011others(1): Show | a0003c0002t0002a0014c0004t0002a0015c0011t0002others(1): Show | a0003c0002t0002g0019a0014c0004t0002g0024a0015c0011t0002g0018others(1): Show | 4 | 24 | 0.1667 | 5 | c.619 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64311979 | G | GTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG02630.hp1 HG02809.hp2 others(1): Show |
a0003a0011a0012others(1): Show | a0003c0019a0011c0001a0012c0005others(1): Show | a0003c0019t0001a0011c0001t0001a0012c0005t0001others(1): Show | a0003c0019t0001g0006a0011c0001t0001g0013a0012c0005t0001g0014others(1): Show | 4 | 24 | 0.1667 | 5 | c.607 others(24): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64326167 | A | AATCCT | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(13): Show |
a0001a0003a0005others(11): Show | a0001c0009a0001c0012a0003c0002others(13): Show | a0001c0009t0001a0001c0012t0002a0003c0002t0002others(13): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0003c0002t0002g0019others(13): Show | 16 | 24 | 0.6667 | 5 | c.607 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64357326 | C | CTCTTG | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(13): Show |
a0001a0003a0005others(11): Show | a0001c0009a0001c0012a0003c0002others(13): Show | a0001c0009t0001a0001c0012t0002a0003c0002t0002others(13): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0003c0002t0002g0019others(13): Show | 16 | 24 | 0.6667 | 5 | c.607 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 29/42 | chr6 | TogoVar |