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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDK8_chr13_26249129_26410238 | 26339752 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 199 | 0.0050 | 14 | c.204 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26359261 | T | TTTCAGTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(312): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(308): Show |
315 | 326 | 0.9663 | 14 | c.456 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | chr13 | TogoVar | |||||||
CDK8_chr13_26249129_26410238 | 26361784 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 84 | 0.0119 | 14 | c.456 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26363327 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0162 a0001c0001t0001g0163 others(44): Show |
47 | 58 | 0.8103 | 14 | c.456 others(31): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDK8_chr13_26249129_26410238 | 26408766 | A | AACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02738.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 others(1): Show |
4 | 22 | 0.1818 | 14 | c.*46 others(25): Show |
CDK8 | ENSG00000132964.13 | transcript | ENST00000381527.8 | protein_coding | 3529 | chr13 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20603768 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0084 | 1 | 54 | 0.0185 | 14 | c.287 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20613249 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19005.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0171 a0001c0002t0001g0174 |
2 | 11 | 0.1818 | 14 | c.287 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20616839 | C | CCACACAC others(7): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02723.hp1 HG03017.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0016 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0001g0065 a0001c0002t0002g0061 a0001c0002t0006g0053 others(4): Show |
7 | 54 | 0.1296 | 14 | c.287 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20642567 | A | ACTGTTGT others(7): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0122 | 1 | 194 | 0.0052 | 14 | c.287 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20694046 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0131 | 1 | 189 | 0.0053 | 14 | c.371 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20721725 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0009a0001c0002t0003a0001c0005t0006others(2): Show | a0001c0001t0009g0087 a0001c0001t0009g0089 a0001c0002t0003g0150 others(3): Show |
6 | 79 | 0.0759 | 14 | c.372 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20848279 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02615.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0007a0001c0001t0016a0001c0001t0032others(6): Show | a0001c0001t0007g0165 a0001c0001t0016g0178 a0001c0001t0032g0196 others(6): Show |
9 | 154 | 0.0584 | 14 | c.742 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20848282 | T | TTTTTGGT others(7): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19082.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0014a0002c0007t0002 | a0001c0001t0014g0072 a0002c0007t0002g0048 |
2 | 194 | 0.0103 | 14 | c.742 others(31): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20913116 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0058 | 1 | 52 | 0.0192 | 14 | c.743 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20913158 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 145 | 0.0069 | 14 | c.743 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20988182 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG03130.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0002g0155 a0001c0001t0004g0002 a0001c0001t0019g0145 others(8): Show |
11 | 22 | 0.5000 | 14 | c.910 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0067 a0001c0001t0015g0191 |
2 | 60 | 0.0333 | 14 | c.105 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21003371 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0115 | 1 | 59 | 0.0169 | 14 | c.105 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21072554 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0008 | a0001c0008t0011 | a0001c0008t0011g0069 | 1 | 42 | 0.0238 | 14 | c.123 others(33): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 21079976 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01106.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0096 a0001c0001t0002g0121 a0001c0001t0004g0031 others(23): Show |
26 | 47 | 0.5532 | 14 | c.123 others(35): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKL1_chr14_50321265_50401881 | 50358636 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0272 | 1 | 108 | 0.0093 | 14 | c.290 others(29): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 3/9 | chr14 | TogoVar | |||||||
CDKL1_chr14_50321265_50401881 | 50380802 | C | CTTTGTTT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0035a0002c0002t0045 | a0001c0001t0035g0226 a0002c0002t0045g0103 |
2 | 166 | 0.0120 | 14 | c.168 others(33): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
CDKL3_chr5_134293424_134372171 | 134296782 | T | TACACACA others(7): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0076 |
3 | 118 | 0.0254 | 14 | c.*18 others(25): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 1641 | chr5 | TogoVar | |||||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0138 |
2 | 63 | 0.0317 | 14 | c.65- others(29): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18509197 | G | GCACGCGC others(7): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0163 | 1 | 62 | 0.0161 | 14 | c.65- others(29): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626661 | C | CCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02132.hp1 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0136 a0001c0001t0002g0143 a0001c0001t0002g0160 others(1): Show |
4 | 57 | 0.0702 | 14 | c.249 others(33): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626723 | T | TCTCTCTC others(7): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147 a0001c0001t0007g0149 |
2 | 160 | 0.0125 | 14 | c.249 others(33): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36680307 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0155 a0001c0001t0013g0213 |
2 | 141 | 0.0142 | 14 | c.-6+ others(29): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36680340 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02523.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(1): Show |
4 | 384 | 0.0104 | 14 | c.-6+ others(29): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1A_chr6_36673714_36692332 | 36681334 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0139 |
2 | 156 | 0.0128 | 14 | c.-6+ others(29): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDKN1B_chr12_12712368_12727369 | 12723287 | A | ATTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02129.hp1 NA18952.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0004 | a0001c0001t0003g0006 a0001c0001t0003g0034 a0002c0002t0004g0005 |
3 | 210 | 0.0143 | 14 | c.*22 others(25): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 919 | chr12 | TogoVar | |||||||
CDKN1C_chr11_2878218_2890775 | 2886863 | A | ACACACAC others(7): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03041.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 416 | 0.0096 | 14 | c.-12 others(25): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 1089 | chr11 | TogoVar | |||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134407256 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18949.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0079 |
2 | 50 | 0.0400 | 14 | c.339 others(31): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0074 a0001c0001t0002g0043 a0001c0001t0003g0057 |
4 | 70 | 0.0571 | 14 | c.151 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0259 a0001c0001t0002g0305 a0001c0001t0002g0311 others(1): Show |
4 | 65 | 0.0615 | 14 | c.194 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981008 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0142 |
3 | 130 | 0.0231 | 14 | c.194 others(31): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21987396 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18522.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0114 a0001c0001t0002g0049 a0001c0001t0007g0364 |
3 | 184 | 0.0163 | 14 | c.193 others(31): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | T | TGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01169.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0001g0112 others(22): Show |
26 | 69 | 0.3768 | 14 | c.193 others(31): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21993799 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 39 | 0.0256 | 14 | c.193 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2D_chr19_10561460_10573979 | 10570547 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01928.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 11 | 0.2727 | 14 | c.-18 others(25): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1569 | chr19 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 125958561 | A | ATGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0158 | 1 | 317 | 0.0032 | 14 | c.*23 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2380 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958563 | A | ATGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01928.hp2 HG03492.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0006 | a0001c0001t0014a0001c0009t0014a0004c0006t0014 | a0001c0001t0014g0055 a0001c0009t0014g0163 a0004c0006t0014g0054 others(1): Show |
4 | 264 | 0.0152 | 14 | c.*23 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2378 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATATGT others(7): Show |
3_prime_UTR_variant | MODIFIER | NA18966.hp1 NA18982.hp1 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0086a0001c0021t0064 | a0001c0004t0086g0300 a0001c0021t0064g0101 |
2 | 72 | 0.0278 | 14 | c.*23 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125958565 | A | ATATGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02698.hp1 HG02976.hp2 HG03195.hp2 others(1): Show |
a0002a0005a0013 | a0002c0012a0002c0013a0005c0045others(1): Show | a0002c0012t0076a0002c0013t0017a0005c0045t0017others(1): Show | a0002c0012t0076g0253 a0002c0013t0017g0011 a0005c0045t0017g0243 others(1): Show |
4 | 74 | 0.0541 | 14 | c.*23 others(25): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 20/20 | 2376 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125973018 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0002a0002c0013others(3): Show | a0001c0004t0003a0001c0004t0008a0001c0004t0031others(20): Show | a0001c0004t0003g0052 a0001c0004t0003g0076 a0001c0004t0003g0170 others(35): Show |
39 | 67 | 0.5821 | 14 | c.335 others(33): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126048976 | T | TACAGGCG others(7): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0245 | 1 | 293 | 0.0034 | 14 | c.-62 others(33): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
CDR2L_chr17_74982632_75010800 | 74989410 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0015a0001c0003t0002others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0135 a0001c0001t0001g0138 others(9): Show |
15 | 16 | 0.9375 | 14 | c.79+ others(29): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74999288 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 107 | 0.0187 | 14 | c.80- others(27): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74999325 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG03704.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0226 |
2 | 287 | 0.0070 | 14 | c.80- others(27): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 NA18946.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0012 | a0001c0001t0003g0063 a0003c0003t0012g0181 |
2 | 7 | 0.2857 | 14 | c.*20 others(25): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar |