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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXO1_chr1_241843204_241894939 | 241885832 | A | ATTTTGTT | intron_variant | MODIFIER | HG00621.hp1 HG02738.hp2 NA18940.hp2 others(10): Show |
a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0027a0007c0008t0004g0095a0007c0008t0004g0096others(9): Show | 13 | 416 | 0.0313 | 7 | c.240 others(24): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXO1_chr1_241843204_241894939 | 241885836 | G | GGTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02083.hp2 others(19): Show |
a0007a0012a0018others(5): Show | a0007c0008a0012c0034a0018c0019others(5): Show | a0007c0008t0004a0012c0034t0004a0018c0019t0004others(5): Show | a0007c0008t0004g0007a0007c0008t0004g0118a0007c0008t0004g0127others(17): Show | 22 | 416 | 0.0529 | 7 | c.240 others(24): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXOC1_chr4_55848648_55910086 | 55909185 | A | ATATATGG | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(111): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0002others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(84): Show | 114 | 376 | 0.3032 | 7 | c.*46 others(18): Show |
EXOC1 | ENSG00000090989.18 | transcript | ENST00000381295.7 | protein_coding | 4100 | chr4 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501157 | C | CTATATAT | intron_variant | MODIFIER | HG02970.hp2 HG03704.hp2 HG04184.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0003t0003a0001c0003t0009others(2): Show | a0001c0001t0005g0258a0001c0003t0003g0012a0001c0003t0003g0182others(3): Show | 6 | 272 | 0.0221 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 501371 | A | ATATATAT | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG01517.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0177a0001c0001t0001g0181others(12): Show | 15 | 272 | 0.0552 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 523401 | C | CTGCTATT | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03098.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0003a0001c0001t0011a0001c0021t0003 | a0001c0001t0003g0117a0001c0001t0011g0268a0001c0021t0003g0180 | 3 | 272 | 0.0110 | 7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 658666 | T | TATATATA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01884.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0009 | a0001c0001t0002a0001c0001t0011a0001c0008t0013others(1): Show | a0001c0001t0002g0188a0001c0001t0002g0189a0001c0001t0002g0190others(4): Show | 7 | 272 | 0.0257 | 7 | c.-43 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103096398 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0013a0014a0017 | a0013c0026a0014c0027a0017c0028 | a0013c0026t0001a0014c0027t0001a0017c0028t0001 | a0013c0026t0001g0353a0014c0027t0001g0029a0017c0028t0001g0352others(1): Show | 5 | 404 | 0.0124 | 7 | c.-17 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103096401 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01515.hp2 HG01517.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0005a0002c0007a0002c0011others(4): Show | a0001c0005t0001a0002c0007t0001a0002c0011t0001others(4): Show | a0001c0005t0001g0005a0001c0005t0001g0033a0001c0005t0001g0185others(9): Show | 16 | 404 | 0.0396 | 7 | c.-17 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103103354 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp1 others(71): Show |
a0000a0001a0002others(6): Show | a0000c0043a0001c0003a0001c0020others(12): Show | a0000c0043t0005a0001c0003t0001a0001c0003t0002others(16): Show | a0000c0043t0005g0180a0001c0003t0001g0026a0001c0003t0002g0011others(66): Show | 74 | 404 | 0.1832 | 7 | c.105 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3_chr5_438176_472290 | 441497 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02071.hp1 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0114others(3): Show | 8 | 418 | 0.0191 | 7 | c.-18 others(18): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133594493 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0002t0002a0001c0005t0007others(1): Show | a0001c0001t0003g0070a0001c0002t0002g0071a0001c0005t0007g0025others(1): Show | 4 | 102 | 0.0392 | 7 | c.141 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133650937 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0077a0001c0001t0003g0032others(3): Show | 6 | 102 | 0.0588 | 7 | c.151 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 134069308 | C | CTCCTCCT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008a0001c0001t0001g0027a0001c0001t0001g0031others(76): Show | 79 | 102 | 0.7745 | 7 | c.*47 others(18): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 3548 | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72189860 | C | CTTCTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0064a0001c0002t0002g0065a0001c0002t0002g0066others(2): Show | 5 | 104 | 0.0481 | 7 | c.219 others(26): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72368447 | T | TGGTACCA | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0009a0001c0002t0011others(2): Show | a0001c0002t0002g0064a0001c0002t0002g0065a0001c0002t0002g0066others(6): Show | 9 | 104 | 0.0865 | 7 | c.212 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72397660 | T | TAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0032a0001c0001t0002g0061a0001c0001t0003g0029others(9): Show | 12 | 104 | 0.1154 | 7 | c.198 others(28): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93041227 | G | GCCTACCA | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00738.hp1 others(33): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0251a0001c0001t0003g0215a0001c0001t0004g0009others(33): Show | 36 | 288 | 0.1250 | 7 | c.217 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOC6_chr10_92843520_93064490 | 93050759 | C | CAAAAAAA | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0106a0001c0001t0002g0237a0001c0001t0007g0079others(3): Show | 6 | 288 | 0.0208 | 7 | c.217 others(26): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXPH5_chr11_108500435_108598768 | 108532367 | T | TATATATA | intron_variant | MODIFIER | HG02055.hp2 HG02132.hp1 HG02922.hp2 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0005others(4): Show | a0001c0001t0002a0002c0002t0003a0005c0005t0003others(5): Show | a0001c0001t0002g0171a0002c0002t0003g0072a0005c0005t0003g0246others(6): Show | 9 | 314 | 0.0287 | 7 | c.444 others(24): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858791 | A | AGGCAGGC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00639.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0004g0072a0001c0001t0006g0033a0001c0001t0009g0049others(8): Show | 11 | 190 | 0.0579 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858805 | C | CAGGAAGG | intron_variant | MODIFIER | HG01884.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0049a0001c0001t0024g0178 | 2 | 190 | 0.0105 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117867260 | G | GAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0014a0001c0001t0018a0001c0001t0019others(4): Show | a0001c0001t0014g0007a0001c0001t0014g0009a0001c0001t0018g0078others(6): Show | 9 | 190 | 0.0474 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0061a0001c0001t0001g0123a0001c0001t0001g0140others(22): Show | 25 | 190 | 0.1316 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117897591 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01071.hp1 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0022a0001c0001t0003g0071a0001c0001t0003g0086others(28): Show | 31 | 190 | 0.1632 | 7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117986190 | T | TTCTTTTC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0030a0001c0001t0001g0061a0001c0001t0001g0065others(75): Show | 79 | 190 | 0.4158 | 7 | c.962 others(28): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118086549 | G | GTGACTGC | intron_variant | MODIFIER | HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0035 | a0001c0001t0009g0088a0001c0001t0035g0017 | 2 | 190 | 0.0105 | 7 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG01943.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0003g0036others(10): Show | 13 | 190 | 0.0684 | 7 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44147775 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02257.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0005 | a0001c0001t0003a0001c0001t0018a0001c0001t0028others(5): Show | a0001c0001t0003g0193a0001c0001t0018g0314a0001c0001t0018g0315others(12): Show | 15 | 334 | 0.0449 | 7 | c.117 others(28): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46934356 | T | TCCTCGTC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01069.hp1 others(50): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0035a0001c0001t0001g0104others(50): Show | 53 | 238 | 0.2227 | 7 | c.-11 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46957857 | G | GATGTTCT | intron_variant | MODIFIER | HG02897.hp1 HG03225.hp1 |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0001a0004c0011t0001 | a0001c0003t0001g0012a0004c0011t0001g0099 | 2 | 238 | 0.0084 | 7 | c.-10 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00735.hp2 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0001g0087others(66): Show | 69 | 238 | 0.2899 | 7 | c.889 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG02129.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0224a0001c0001t0003g0041a0001c0001t0003g0078others(7): Show | 10 | 238 | 0.0420 | 7 | c.889 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47148021 | T | TGCAGTCC | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01069.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0091a0001c0001t0001g0104a0001c0001t0001g0148others(36): Show | 39 | 238 | 0.1639 | 7 | c.978 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47148058 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01069.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0002g0042a0001c0001t0002g0043a0001c0001t0002g0055others(25): Show | 28 | 238 | 0.1177 | 7 | c.978 others(24): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47154860 | T | TGTGTGTG | intron_variant | MODIFIER | NA18979.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0113a0001c0003t0003g0120 | 2 | 238 | 0.0084 | 7 | c.978 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | chr20 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133243539 | A | AAGTTGAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0190others(82): Show | 85 | 264 | 0.3220 | 7 | c.-66 others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYA4_chr6_133236357_133537128 | 133428911 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01952.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0216a0001c0001t0002g0034a0001c0001t0004g0049others(5): Show | 8 | 264 | 0.0303 | 7 | c.84- others(24): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
EYS_chr6_63714980_65712226 | 63827866 | A | ATAAAAAT | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
a0003a0009a0015others(2): Show | a0003c0002a0003c0019a0009c0006others(3): Show | a0003c0002t0002a0003c0019t0001a0009c0006t0001others(3): Show | a0003c0002t0002g0019a0003c0019t0001g0006a0009c0006t0001g0004others(3): Show | 6 | 24 | 0.2500 | 7 | c.722 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 36/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64112781 | T | TATATATC | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp2 HG02886.hp1 others(4): Show |
a0005a0008a0009others(4): Show | a0005c0010a0008c0007a0009c0006others(4): Show | a0005c0010t0001a0008c0007t0001a0009c0006t0001others(4): Show | a0005c0010t0001g0015a0008c0007t0001g0009a0009c0006t0001g0004others(4): Show | 7 | 24 | 0.2917 | 7 | c.642 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64529595 | T | TTAAATGA | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp1 others(3): Show |
a0002a0004a0007others(2): Show | a0002c0008a0002c0021a0004c0017others(3): Show | a0002c0008t0002a0002c0021t0001a0004c0017t0001others(3): Show | a0002c0008t0002g0020a0002c0021t0001g0008a0004c0017t0001g0002others(3): Show | 6 | 24 | 0.2500 | 7 | c.564 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 26/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65113711 | T | TTCCCTAC | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02809.hp2 others(6): Show |
a0005a0006a0008others(6): Show | a0005c0010a0006c0022a0008c0007others(6): Show | a0005c0010t0001a0006c0022t0001a0008c0007t0001others(6): Show | a0005c0010t0001g0015a0006c0022t0001g0011a0008c0007t0001g0009others(6): Show | 9 | 24 | 0.3750 | 7 | c.202 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65119630 | C | CTTTTTTT | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 HG03209.hp2 |
a0008a0016a0018 | a0008c0007a0016c0014a0018c0016 | a0008c0007t0001a0016c0014t0001a0018c0016t0001 | a0008c0007t0001g0009a0016c0014t0001g0005a0018c0016t0001g0003 | 3 | 24 | 0.1250 | 7 | c.202 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65185993 | A | AAATAAGT | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02630.hp1 others(9): Show |
a0002a0003a0005others(9): Show | a0002c0008a0003c0019a0005c0010others(9): Show | a0002c0008t0002a0003c0019t0001a0005c0010t0001others(9): Show | a0002c0008t0002g0020a0003c0019t0001g0006a0005c0010t0001g0015others(9): Show | 12 | 24 | 0.5000 | 7 | c.202 others(30): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 12/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65365524 | C | CTCTTTTA | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02451.hp1 others(12): Show |
a0001a0003a0004others(12): Show | a0001c0012a0003c0019a0004c0017others(12): Show | a0001c0012t0002a0003c0019t0001a0004c0017t0001others(12): Show | a0001c0012t0002g0021a0003c0019t0001g0006a0004c0017t0001g0002others(12): Show | 15 | 24 | 0.6250 | 7 | c.130 others(28): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 8/42 | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 65648013 | T | TAAAATAA | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG02451.hp2 others(16): Show |
a0001a0002a0003others(15): Show | a0001c0009a0001c0012a0002c0008others(16): Show | a0001c0009t0001a0001c0012t0002a0002c0008t0002others(16): Show | a0001c0009t0001g0012a0001c0012t0002g0021a0002c0008t0002g0020others(16): Show | 19 | 24 | 0.7917 | 7 | c.-44 others(26): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 1/42 | chr6 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148863096 | A | AAAGAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0001others(3): Show | a0001c0001t0001g0294a0001c0001t0001g0295a0001c0001t0001g0296others(77): Show | 80 | 380 | 0.2105 | 7 | c.-7- others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
EZH2_chr7_148802383_148889291 | 148873491 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0295a0001c0001t0001g0296a0001c0001t0001g0306others(16): Show | 19 | 380 | 0.0500 | 7 | c.-8+ others(24): Show |
EZH2 | ENSG00000106462.12 | transcript | ENST00000320356.7 | protein_coding | 1/19 | chr7 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158791706 | A | ATTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG02258.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0002g0176others(6): Show | 9 | 312 | 0.0289 | 7 | c.13- others(22): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158811930 | T | TAAAAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0002g0004others(131): Show | 139 | 312 | 0.4455 | 7 | c.12+ others(22): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar |