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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC4_chr7_133248078_134070761 | 133787955 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | NA18906.hp2 NA18948.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0040 a0001c0002t0001g0047 |
2 | 102 | 0.0196 | -18 | c.151 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133787963 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 102 | 0.0098 | -18 | c.151 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133857307 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02027.hp2 HG02080.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0001others(1): Show | a0001c0003t0001g0023 a0001c0003t0002g0005 a0001c0004t0001g0067 others(1): Show |
4 | 102 | 0.0392 | -18 | c.173 others(39): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72305322 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 others(31): Show |
34 | 104 | 0.3269 | -18 | c.219 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 20/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72335548 | GCACACAC others(11): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0017 others(3): Show |
6 | 104 | 0.0577 | -18 | c.212 others(35): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72374007 | ACATTGCA others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0019 | 1 | 104 | 0.0096 | -18 | c.212 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 19/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72410365 | GTGGTCTG others(11): Show |
G | intron_variant | MODIFIER | NA18906.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 a0001c0002t0001g0007 |
2 | 104 | 0.0192 | -18 | c.198 others(39): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72631459 | TATAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0076 | 1 | 104 | 0.0096 | -18 | c.670 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72631461 | TAGAGAGA others(11): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0103 a0001c0002t0004g0104 |
2 | 104 | 0.0192 | -18 | c.670 others(37): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 6/21 | chr2 | TogoVar | |||||||
EXOC6_chr10_92843520_93064490 | 92896173 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0143 others(1): Show |
4 | 288 | 0.0139 | -18 | c.412 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896177 | ATATATTT others(11): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(15): Show |
18 | 288 | 0.0625 | -18 | c.412 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896179 | ATATTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02132.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0150 others(1): Show |
4 | 288 | 0.0139 | -18 | c.412 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92896181 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0126 a0001c0001t0001g0127 others(7): Show |
10 | 288 | 0.0347 | -18 | c.412 others(35): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOG_chr3_38491340_38531303 | 38492731 | TACACACA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02135.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0055 others(5): Show |
9 | 412 | 0.0218 | -18 | c.-36 others(29): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3608 | chr3 | TogoVar | |||||||
EXOG_chr3_38491340_38531303 | 38492787 | CACACACA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0004g0002 others(2): Show |
6 | 412 | 0.0146 | -18 | c.-35 others(29): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 3552 | chr3 | TogoVar | |||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01081.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0005 a0001c0001t0002g0041 a0001c0001t0002g0044 others(2): Show |
30 | 432 | 0.0694 | -18 | c.*34 others(29): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | |||||||
EXOSC7_chr3_44971244_45016471 | 44975766 | TCTCTCTC others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0062 | 1 | 340 | 0.0029 | -18 | c.-51 others(27): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 477 | chr3 | TogoVar | |||||||
EXOSC7_chr3_44971244_45016471 | 44994856 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02132.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0239 |
2 | 340 | 0.0059 | -18 | c.255 others(35): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXOSC7_chr3_44971244_45016471 | 45003334 | CGTGCGTG others(11): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 340 | 0.0029 | -18 | c.491 others(35): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXOSC7_chr3_44971244_45016471 | 45006068 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | 340 | 0.0059 | -18 | c.615 others(33): Show |
EXOSC7 | ENSG00000075914.13 | transcript | ENST00000265564.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108573170 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0014 | a0014c0017 | a0014c0017t0016 | a0014c0017t0016g0310 | 1 | 314 | 0.0032 | -18 | c.119 others(37): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108573180 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 |
a0007a0025 | a0007c0007a0025c0032 | a0007c0007t0004a0025c0032t0001 | a0007c0007t0004g0032 a0025c0032t0001g0024 |
2 | 314 | 0.0064 | -18 | c.119 others(37): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117790869 | AAACAACA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 HG02976.hp2 NA18906.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0025a0001c0003t0062others(1): Show | a0001c0003t0017g0186 a0001c0003t0025g0183 a0001c0003t0025g0184 others(2): Show |
5 | 190 | 0.0263 | -18 | c.*88 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 3620 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117980694 | GGTGGTTT others(11): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 190 | 0.0053 | -18 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117980698 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0014a0001c0001t0015others(7): Show | a0001c0001t0006g0156 a0001c0001t0014g0007 a0001c0001t0014g0009 others(9): Show |
12 | 190 | 0.0632 | -18 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 117984239 | CAAAACCC others(11): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0035 | 1 | 190 | 0.0053 | -18 | c.962 others(39): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113644 | GCTCTCTC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0083 | 1 | 190 | 0.0053 | -18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1819 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113683 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0014 | 1 | 190 | 0.0053 | -18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1858 | chr8 | TogoVar | |||||||
EXT1_chr8_117789490_118116826 | 118113685 | CTCTCTCT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0056 | a0001c0011t0056g0082 | 1 | 190 | 0.0053 | -18 | c.-26 others(29): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1860 | chr8 | TogoVar | |||||||
EXT2_chr11_44090678_44256962 | 44119124 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0311 a0001c0001t0010g0312 |
2 | 334 | 0.0060 | -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 | 44119153 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0003g0227 a0001c0001t0005g0017 a0001c0001t0005g0061 others(29): Show |
32 | 334 | 0.0958 | -18 | c.743 others(35): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71334718 | CAGCCATA others(11): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02486.hp1 HG02622.hp2 others(3): Show |
a0002 | a0002c0006a0002c0008 | a0002c0006t0003a0002c0006t0026a0002c0008t0002 | a0002c0006t0003g0024 a0002c0006t0003g0025 a0002c0006t0026g0226 others(3): Show |
6 | 232 | 0.0259 | -18 | c.125 others(33): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
EYA1_chr8_71192433_71367069 | 71364939 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0224 | 1 | 232 | 0.0043 | -18 | c.-33 others(29): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 2871 | chr8 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47011630 | CCTTCGGG others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01069.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0091 a0001c0001t0001g0102 others(44): Show |
47 | 238 | 0.1975 | -18 | c.299 others(35): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47063374 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0121 a0001c0002t0001g0004 |
2 | 238 | 0.0084 | -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 | 47067497 | CCATTTAC others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01167.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0037 others(63): Show |
66 | 238 | 0.2773 | -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 | 47116707 | CGCTCCCA others(11): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 238 | 0.0042 | -18 | c.888 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47154817 | TTTTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02572.hp1 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0073 a0001c0002t0001g0174 |
3 | 238 | 0.0126 | -18 | c.978 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47156127 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 238 | 0.0042 | -18 | c.979 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 47185276 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG01261.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0034 a0001c0001t0001g0163 others(13): Show |
16 | 238 | 0.0672 | -18 | c.153 others(37): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 27974272 | AGAGAGAG others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0036 | a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0016g0030 others(1): Show |
4 | 392 | 0.0102 | -18 | c.*17 others(27): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 18/18 | 176 | chr1 | TogoVar | ||||||
EYA3_chr1_27965344_28093610 | 28014417 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0266 | 1 | 392 | 0.0026 | -18 | c.586 others(35): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 8/17 | chr1 | TogoVar | |||||||
EYA3_chr1_27965344_28093610 | 28084556 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 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 | 28084581 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0324 | 1 | 392 | 0.0026 | -18 | c.-69 others(35): Show |
EYA3 | ENSG00000158161.16 | transcript | ENST00000373871.8 | protein_coding | 1/17 | chr1 | TogoVar | |||||||
EYA4_chr6_133236357_133537128 | 133252942 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0183 | 1 | 264 | 0.0038 | -18 | c.-66 others(37): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133342574 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(63): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0063 a0001c0001t0001g0184 others(63): Show |
66 | 264 | 0.2500 | -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 | 133394282 | GTGTTTTT others(11): Show |
G | intron_variant | MODIFIER | NA19000.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0065 |
2 | 264 | 0.0076 | -18 | c.83+ others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133483698 | GTTATTAT others(11): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02155.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006a0002c0002t0008others(2): Show | a0002c0002t0004g0026 a0002c0002t0004g0048 a0002c0002t0004g0181 others(14): Show |
17 | 264 | 0.0644 | -18 | c.119 others(35): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
EYS_chr6_63714980_65712226 | 64151346 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 |
a0002a0014 | a0002c0009a0014c0003 | a0002c0009t0001a0014c0003t0001 | a0002c0009t0001g0012 a0014c0003t0001g0016 |
2 | 24 | 0.0833 | -18 | c.642 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 31/42 | chr6 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64404372 | AGTGTGAG others(11): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 |
a0012a0016 | a0012c0016a0016c0022 | a0012c0016t0001a0016c0022t0001 | a0012c0016t0001g0003 a0016c0022t0001g0011 |
2 | 24 | 0.0833 | -18 | c.592 others(39): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 28/42 | chr6 | TogoVar |