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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXT1_chr8_117789490_118116826 | 117870823 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0094 | 1 | 190 | 0.0053 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117874575 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0162 | 1 | 190 | 0.0053 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117897591 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0091 | 1 | 190 | 0.0053 | 18 | c.963 others(37): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113644 | G | GCTCTCTC others(11): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0188 | 1 | 190 | 0.0053 | 18 | c.-25 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1819 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113691 | C | CTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03490.hp1 HG04184.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0001 | a0001c0001t0005g0026 a0001c0001t0005g0050 a0001c0004t0001g0054 |
3 | 190 | 0.0158 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1866 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03490.hp2 NA19060.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0015a0001c0003t0002 | a0001c0001t0011g0095 a0001c0001t0015g0089 a0001c0003t0002g0153 |
3 | 190 | 0.0158 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 190 | 0.0053 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTAT others(11): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113 a0001c0001t0004g0109 |
2 | 190 | 0.0105 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 190 | 0.0053 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113695 | C | CTCTCTCT others(11): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0102 | 1 | 190 | 0.0053 | 18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1870 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44119124 | T | TTTTATAT others(11): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 | 1 | 334 | 0.0030 | 18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119139 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01346.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 others(2): Show |
5 | 334 | 0.0150 | 18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG02015.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0275 a0001c0001t0003g0274 a0001c0001t0009g0263 others(10): Show |
13 | 334 | 0.0389 | 18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18979.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0013a0001c0004t0016 | a0001c0001t0003g0291 a0001c0001t0003g0304 a0001c0001t0013g0300 others(1): Show |
4 | 334 | 0.0120 | 18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44119169 | T | TGTATATA others(11): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 334 | 0.0030 | 18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | chr11 | TogoVar | |||||||
EXTL1_chr1_26016775_26041464 | 26027693 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0045 | 1 | 372 | 0.0027 | 18 | c.780 others(35): Show |
EXTL1 | ENSG00000158008.10 | transcript | ENST00000374280.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EXTL3_chr8_28696501_28760599 | 28701427 | G | GCGCGCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG02723.hp2 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0036a0001c0004t0073 | a0001c0004t0036g0326 a0001c0004t0036g0327 a0001c0004t0073g0325 |
3 | 380 | 0.0079 | 18 | c.-80 others(27): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 73 | chr8 | TogoVar | |||||||
EXTL3_chr8_28696501_28760599 | 28754033 | C | CGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | NA18522.hp1 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0048 | a0002c0003t0048g0012 a0002c0003t0048g0323 |
2 | 380 | 0.0053 | 18 | c.*31 others(29): Show |
EXTL3 | ENSG00000012232.10 | transcript | ENST00000220562.9 | protein_coding | 7/7 | 3196 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71216388 | G | GGCTAATT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(106): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(18): Show | a0001c0002t0001g0015 a0001c0002t0001g0044 a0001c0002t0001g0048 others(106): Show |
109 | 232 | 0.4698 | 18 | c.136 others(35): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 14/17 | chr8 | TogoVar | |||||||
EYA1_chr8_71192433_71367069 | 71274928 | G | GAGCGAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(112): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 others(112): Show |
115 | 232 | 0.4957 | 18 | c.827 others(35): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | |||||||
EYA1_chr8_71192433_71367069 | 71274928 | G | GAGCGAGT others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0005 | 1 | 232 | 0.0043 | 18 | c.827 others(35): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | |||||||
EYA1_chr8_71192433_71367069 | 71346431 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 232 | 0.0043 | 18 | c.124 others(35): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(11): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03710.hp1 NA19003.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0021 a0001c0001t0002g0114 a0001c0001t0002g0125 others(1): Show |
4 | 238 | 0.0168 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987916 | G | GACTCTCT others(11): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02622.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0002a0001c0003t0002a0001c0013t0001 | a0001c0001t0002g0038 a0001c0001t0002g0061 a0001c0003t0002g0213 others(1): Show |
4 | 238 | 0.0168 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 46987960 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTAT others(11): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 NA20752.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0211 a0001c0003t0002g0227 |
2 | 238 | 0.0084 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46987964 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 238 | 0.0042 | 18 | c.-10 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47063392 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 238 | 0.0042 | 18 | c.416 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47148555 | G | GACATGTC others(11): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18990.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0193 others(2): Show |
5 | 238 | 0.0210 | 18 | c.978 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47182628 | T | TCAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 | 1 | 238 | 0.0042 | 18 | c.143 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28020667 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 392 | 0.0026 | 18 | c.500 others(35): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 7/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28062657 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18948.hp2 NA18951.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0247 others(2): Show |
5 | 392 | 0.0128 | 18 | c.-68 others(35): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 392 | 0.0026 | 18 | c.-68 others(37): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073103 | T | TTCTATAT others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 392 | 0.0026 | 18 | c.-68 others(37): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 392 | 0.0026 | 18 | c.-68 others(37): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01168.hp1 HG01256.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009 | a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0002g0216 others(16): Show |
19 | 392 | 0.0485 | 18 | c.-68 others(37): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28073127 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02148.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0264 others(1): Show |
4 | 392 | 0.0102 | 18 | c.-68 others(37): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28084595 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 392 | 0.0026 | 18 | c.-69 others(35): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28092164 | A | AAATAATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 392 | 0.0026 | 18 | c.-37 others(29): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 3555 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133243089 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0057 a0001c0001t0011g0083 |
2 | 264 | 0.0076 | 18 | c.-66 others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133294023 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0002g0098 |
2 | 264 | 0.0076 | 18 | c.33+ others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133342574 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02129.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0004g0049 others(5): Show |
8 | 264 | 0.0303 | 18 | c.34- others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133342605 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03139.hp1 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0028g0142 a0002c0002t0003g0138 a0002c0002t0004g0053 others(1): Show |
4 | 264 | 0.0152 | 18 | c.34- others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | chr6 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133439049 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18971.hp2 NA18999.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0023 | a0001c0001t0001g0185 a0002c0002t0001g0015 a0002c0002t0001g0023 others(2): Show |
5 | 264 | 0.0189 | 18 | c.84- others(33): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 63727733 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp1 |
a0003 | a0003c0008a0003c0021 | a0003c0008t0002a0003c0021t0001 | a0003c0008t0002g0020 a0003c0021t0001g0008 |
2 | 24 | 0.0833 | 18 | c.807 others(37): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 63727735 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 |
a0001a0011 | a0001c0002a0011c0010 | a0001c0002t0002a0011c0010t0001 | a0001c0002t0002g0019 a0011c0010t0001g0015 |
2 | 24 | 0.0833 | 18 | c.807 others(37): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 41/42 | chr6 | TogoVar |