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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT1_chr8_117789490_118116826 | 117870823 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(24): Show | a0001c0001t0004g0055a0001c0001t0004g0072a0001c0001t0006g0033others(34): Show | 37 | 190 | 0.1947 | 8 | c.963 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117897591 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01515.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0005a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0005g0152a0001c0001t0006g0144a0001c0002t0002g0059others(2): Show | 5 | 190 | 0.0263 | 8 | c.963 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117961117 | T | TTTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0019a0001c0001t0001g0029a0001c0001t0001g0030others(135): Show | 139 | 190 | 0.7316 | 8 | c.963 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117965993 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0006a0001c0005t0029a0001c0007t0013others(1): Show | a0001c0001t0006g0131a0001c0005t0029g0008a0001c0007t0013g0014others(1): Show | 4 | 190 | 0.0211 | 8 | c.963 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117973930 | C | CAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02257.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(15): Show | a0001c0001t0001g0045a0001c0001t0001g0123a0001c0001t0005g0041others(16): Show | 19 | 190 | 0.1000 | 8 | c.962 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117986189 | T | TTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00609.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0019a0001c0001t0001g0029a0001c0001t0001g0048others(59): Show | 62 | 190 | 0.3263 | 8 | c.962 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118019246 | T | TGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0084a0001c0001t0001g0116a0001c0001t0002g0053others(33): Show | 36 | 190 | 0.1895 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118041665 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0028a0001c0001t0001g0030a0001c0001t0001g0048others(35): Show | 38 | 190 | 0.2000 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118063859 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0001t0031a0001c0002t0028others(1): Show | a0001c0001t0014g0007a0001c0001t0014g0009a0001c0001t0031g0006others(2): Show | 5 | 190 | 0.0263 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118066332 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG02015.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(14): Show | a0001c0001t0003g0057a0001c0001t0003g0114a0001c0001t0004g0055others(15): Show | 18 | 190 | 0.0947 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118070226 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 NA18522.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0017a0001c0001t0047others(3): Show | a0001c0001t0003g0139a0001c0001t0017g0187a0001c0001t0047g0127others(3): Show | 6 | 190 | 0.0316 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118090778 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG01496.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0040a0001c0001t0003g0057a0001c0001t0004g0039others(7): Show | 10 | 190 | 0.0526 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118096620 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02015.hp2 HG02129.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0079a0001c0001t0005g0070a0001c0001t0008g0069others(2): Show | 5 | 190 | 0.0263 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118096672 | A | AAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 | 2 | 190 | 0.0105 | 8 | c.962 others(27): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113644 | G | GCTCTCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0001g0136a0001c0002t0002g0059a0001c0002t0007g0112others(3): Show | 6 | 190 | 0.0316 | 8 | c.-25 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1819 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG02965.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0140a0001c0001t0003g0036a0001c0001t0012g0174 | 3 | 190 | 0.0158 | 8 | c.-26 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTATAT others(1): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 NA18981.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017a0001c0001t0044 | a0001c0001t0008g0069a0001c0001t0017g0187a0001c0001t0044g0038 | 3 | 190 | 0.0158 | 8 | c.-26 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 HG02258.hp2 HG03239.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0041others(3): Show | a0001c0001t0003g0037a0001c0001t0004g0143a0001c0001t0041g0032others(3): Show | 6 | 190 | 0.0316 | 8 | c.-26 others(19): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 HG03017.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0003a0001c0004t0016 | a0001c0001t0003g0207a0001c0003t0003g0261a0001c0003t0003g0267others(3): Show | 6 | 334 | 0.0180 | 8 | c.743 others(25): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXT2_chr11_44090678_44256962 | 44124444 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01167.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0021a0001c0007t0005 | a0001c0001t0002g0222a0001c0001t0021g0059a0001c0001t0021g0060others(2): Show | 5 | 334 | 0.0150 | 8 | c.744 others(23): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXT2_chr11_44090678_44256962 | 44186982 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00673.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(15): Show | a0001c0001t0001g0086a0001c0001t0001g0095a0001c0001t0001g0111others(45): Show | 49 | 334 | 0.1467 | 8 | c.130 others(29): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EXTL2_chr1_100867391_100899842 | 100875230 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0022a0001c0001t0001g0137a0001c0001t0001g0154others(7): Show | 17 | 410 | 0.0415 | 8 | c.505 others(23): Show |
EXTL2 | ENSG00000162694.14 | transcript | ENST00000370114.8 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28749623 | T | TTTCATTC others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01978.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0191a0001c0001t0003g0258a0001c0001t0003g0261others(1): Show | 4 | 380 | 0.0105 | 8 | c.255 others(25): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EXTL3_chr8_28696501_28760599 | 28754033 | C | CGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0005g0023a0001c0001t0005g0025a0001c0001t0005g0156others(58): Show | 69 | 380 | 0.1816 | 8 | c.*31 others(19): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 7/7 | 3196 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
EXTL3_chr8_28696501_28760599 | 28754060 | G | GTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | NA18942.hp2 NA18944.hp2 NA18954.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0026a0001c0001t0010g0251a0001c0001t0010g0282others(2): Show | 6 | 380 | 0.0158 | 8 | c.*31 others(19): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 7/7 | 3196 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
EYA1_chr8_71192433_71367069 | 71305646 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02258.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0001g0019a0001c0001t0001g0061a0001c0001t0001g0066others(20): Show | 23 | 232 | 0.0991 | 8 | c.557 others(25): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71346431 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0090a0001c0001t0001g0155others(28): Show | 31 | 232 | 0.1336 | 8 | c.124 others(25): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46907835 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01258.hp1 HG01261.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0020a0001c0001t0001g0237a0001c0001t0002g0014others(11): Show | 14 | 238 | 0.0588 | 8 | c.-11 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46911231 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02622.hp2 HG02818.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0002g0038others(13): Show | 16 | 238 | 0.0672 | 8 | c.-11 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46957578 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | NA19043.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0037a0001c0001t0003g0083 | 2 | 238 | 0.0084 | 8 | c.-10 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03209.hp2 NA18954.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0163a0001c0001t0003g0195a0001c0003t0003g0018 | 3 | 238 | 0.0126 | 8 | c.-10 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18998.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0188a0001c0002t0001g0212 | 2 | 238 | 0.0084 | 8 | c.-10 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46992018 | C | CATTCCCC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp2 others(163): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0020others(163): Show | 166 | 238 | 0.6975 | 8 | c.109 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 46992025 | C | CGATTCCC others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02572.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0104a0001c0001t0001g0139a0001c0001t0003g0121others(3): Show | 6 | 238 | 0.0252 | 8 | c.109 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47014628 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0039a0001c0002t0001g0004a0001c0003t0001g0093 | 3 | 238 | 0.0126 | 8 | c.299 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47039111 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00735.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0087others(32): Show | 35 | 238 | 0.1471 | 8 | c.415 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47039835 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01358.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0035a0001c0001t0001g0148others(17): Show | 20 | 238 | 0.0840 | 8 | c.415 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47057139 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01123.hp2 HG01243.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0087a0001c0001t0001g0149a0001c0001t0001g0172others(44): Show | 47 | 238 | 0.1975 | 8 | c.416 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47063392 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01884.hp2 HG02055.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0030a0001c0001t0002g0180a0001c0001t0002g0208others(1): Show | 4 | 238 | 0.0168 | 8 | c.416 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47078327 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp2 others(20): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0037a0001c0001t0001g0046others(20): Show | 23 | 238 | 0.0966 | 8 | c.661 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47078329 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02071.hp2 HG02135.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0182a0001c0001t0002g0202a0001c0001t0003g0097others(4): Show | 7 | 238 | 0.0294 | 8 | c.661 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47078331 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18968.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0115a0001c0002t0001g0074 | 2 | 238 | 0.0084 | 8 | c.661 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47130261 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01106.hp2 others(46): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0034others(46): Show | 49 | 238 | 0.2059 | 8 | c.889 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47135818 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01167.hp1 HG01169.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0002g0115a0001c0001t0003g0017a0001c0001t0003g0036others(18): Show | 21 | 238 | 0.0882 | 8 | c.889 others(25): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47154819 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02015.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0149a0001c0001t0002g0224others(11): Show | 14 | 238 | 0.0588 | 8 | c.978 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA2_chr20_46889843_47193844 | 47156089 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 NA18975.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0094a0001c0001t0002g0075a0001c0001t0002g0209others(1): Show | 4 | 238 | 0.0168 | 8 | c.978 others(27): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
EYA3_chr1_27965344_28093610 | 28020667 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG01952.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0295a0001c0001t0002g0318a0001c0001t0002g0319others(12): Show | 15 | 392 | 0.0383 | 8 | c.500 others(25): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 7/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28062657 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0005a0001c0001t0002g0095a0001c0001t0002g0312others(17): Show | 20 | 392 | 0.0510 | 8 | c.-68 others(25): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28084556 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02080.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0157a0001c0001t0003g0057a0001c0001t0003g0058others(2): Show | 5 | 392 | 0.0128 | 8 | c.-69 others(25): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133243089 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01256.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0195others(11): Show | 14 | 264 | 0.0530 | 8 | c.-66 others(25): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |