| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COP1_chr1_175939831_176212286 | 175955766 | C | CCACACAC others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02004.hp2 HG02486.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0036a0001c0001t0001g0061a0001c0001t0001g0062others(14): Show | 17 | 300 | 0.0567 | 16 | c.213 others(35): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176028696 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00738.hp1 HG01884.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0069a0001c0001t0001g0071others(32): Show | 35 | 300 | 0.1167 | 16 | c.161 others(35): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176127561 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0296 | 1 | 300 | 0.0033 | 16 | c.968 others(33): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 8/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176143123 | C | CGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0138others(5): Show | 8 | 300 | 0.0267 | 16 | c.831 others(33): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176151353 | A | AAAAGAAA others(9): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244a0001c0001t0001g0245 | 2 | 300 | 0.0067 | 16 | c.763 others(33): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 5/19 | chr1 | TogoVar | ||||||
| COP1_chr1_175939831_176212286 | 176165361 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0082 | 2 | 300 | 0.0067 | 16 | c.566 others(33): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
| COPB1_chr11_14452512_14504811 | 14454637 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG00741.hp1 others(87): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0014others(87): Show | 90 | 386 | 0.2332 | 16 | c.*31 others(27): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 2874 | chr11 | TogoVar | ||||||
| COPB1_chr11_14452512_14504811 | 14470944 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 386 | 0.0026 | 16 | c.173 others(35): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
| COPB1_chr11_14452512_14504811 | 14473578 | C | CCAGTTGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(282): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0011others(265): Show | 285 | 386 | 0.7383 | 16 | c.173 others(33): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
| COPB1_chr11_14452512_14504811 | 14477389 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01069.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0108a0001c0001t0001g0117others(23): Show | 29 | 386 | 0.0751 | 16 | c.135 others(33): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | ||||||
| COPG1_chr3_129244606_129282773 | 129247222 | G | GTGTATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0048 | 1 | 326 | 0.0031 | 16 | c.-24 others(27): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 2383 | chr3 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513321 | A | ATATGTGT others(9): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0095 | 1 | 326 | 0.0031 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513323 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(50): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0005g0053a0001c0002t0001g0002a0001c0002t0001g0005others(50): Show | 53 | 326 | 0.1626 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513325 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 326 | 0.0031 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513341 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02698.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0134a0001c0001t0001g0257others(1): Show | 4 | 326 | 0.0123 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513341 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0291a0001c0001t0001g0314 | 3 | 326 | 0.0092 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130513341 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 326 | 0.0031 | 16 | c.215 others(35): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
| COPG2_chr7_130501238_130673748 | 130659354 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01515.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0319a0001c0001t0001g0320others(10): Show | 13 | 326 | 0.0399 | 16 | c.243 others(33): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
| COPRS_chr17_31846871_31864244 | 31859374 | G | GGGGGCGG others(9): Show |
upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 372 | 0.0027 | 16 | c.-17 others(25): Show |
COPRS | ENSG00000172301.11 | transcript | ENST00000302362.11 | protein_coding | 131 | chr17 | TogoVar | ||||||
| COPS3_chr17_17241616_17286246 | 17255839 | A | AAAATAAA others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0088others(10): Show | 15 | 352 | 0.0426 | 16 | c.937 others(31): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
| COPS6_chr7_100083969_100097187 | 100090902 | C | CTTCCTGT others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0003 | 1 | 422 | 0.0024 | 16 | c.489 others(23): Show |
p.Glu others(5): Show |
COPS6 | ENSG00000168090.10 | transcript | ENST00000303904.8 | protein_coding | 6/10 | 527/1404 | 505/984 | 169/327 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| COPZ1_chr12_54320131_54356846 | 54323622 | C | CTCTCTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01358.hp2 HG02074.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0177a0001c0001t0001g0194a0001c0001t0002g0002others(10): Show | 14 | 368 | 0.0380 | 16 | c.-15 others(27): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1508 | chr12 | TogoVar | ||||||
| COPZ1_chr12_54320131_54356846 | 54323622 | C | CTCTTTCT others(9): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00735.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(23): Show | 28 | 368 | 0.0761 | 16 | c.-15 others(27): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1508 | chr12 | TogoVar | ||||||
| COPZ1_chr12_54320131_54356846 | 54323665 | T | TTTCTTTC others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02109.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0050a0001c0001t0001g0135a0001c0001t0001g0152others(1): Show | 4 | 368 | 0.0109 | 16 | c.-14 others(27): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1465 | chr12 | TogoVar | ||||||
| COPZ2_chr17_48021167_48042797 | 48021893 | A | ATTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 396 | 0.0025 | 16 | c.*45 others(27): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 4273 | chr17 | TogoVar | ||||||
| COQ7_chr16_19062614_19085095 | 19064341 | C | CTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0068 | 1 | 372 | 0.0027 | 16 | c.-33 others(27): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3272 | chr16 | TogoVar | ||||||
| COQ7_chr16_19062614_19085095 | 19064343 | C | CTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01074.hp1 others(18): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0002 | a0002c0002t0003g0014a0002c0002t0003g0020a0002c0002t0003g0030others(15): Show | 21 | 372 | 0.0565 | 16 | c.-33 others(27): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3270 | chr16 | TogoVar | ||||||
| COQ7_chr16_19062614_19085095 | 19064345 | C | CTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02055.hp2 others(13): Show |
a0002a0006 | a0002c0002a0002c0003a0006c0011 | a0002c0002t0003a0002c0002t0008a0002c0002t0019others(2): Show | a0002c0002t0003g0011a0002c0002t0003g0014a0002c0002t0003g0075others(8): Show | 16 | 372 | 0.0430 | 16 | c.-33 others(27): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 3268 | chr16 | TogoVar | ||||||
| COQ7_chr16_19062614_19085095 | 19077590 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00741.hp1 others(45): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0022others(29): Show | 48 | 372 | 0.1290 | 16 | c.576 others(31): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| COQ7_chr16_19062614_19085095 | 19077604 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01981.hp1 HG02080.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0024a0001c0001t0004g0105a0001c0001t0007g0024others(4): Show | 8 | 372 | 0.0215 | 16 | c.576 others(31): Show |
COQ7 | ENSG00000167186.11 | transcript | ENST00000321998.10 | protein_coding | 5/5 | chr16 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226956094 | A | ACACTCTC others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 2 | 412 | 0.0049 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226956206 | C | CCACTCTC others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG02970.hp2 |
a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0358a0002c0004t0008g0359a0002c0004t0008g0360 | 3 | 412 | 0.0073 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226956236 | A | ACACTCTC others(9): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328a0001c0001t0001g0331 | 2 | 412 | 0.0049 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226956441 | C | CTCTCACT others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG02970.hp2 |
a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0358a0002c0004t0008g0359a0002c0004t0008g0360 | 3 | 412 | 0.0073 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226956474 | A | ACACTCTC others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02965.hp2 HG02970.hp2 |
a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0358a0002c0004t0008g0359a0002c0004t0008g0360 | 3 | 412 | 0.0073 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226960229 | A | ACTTGGTG others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0033 | 2 | 412 | 0.0049 | 16 | c.-9- others(31): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COQ8B_chr19_40686530_40721886 | 40695325 | A | AAAAAAGA others(9): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0261a0001c0004t0001g0264 | 2 | 410 | 0.0049 | 16 | c.120 others(33): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40695326 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 NA18947.hp2 others(6): Show |
a0001 | a0001c0005a0001c0014 | a0001c0005t0001a0001c0014t0001 | a0001c0005t0001g0047a0001c0005t0001g0048a0001c0005t0001g0049others(6): Show | 9 | 410 | 0.0220 | 16 | c.120 others(33): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 13/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40697851 | T | TATATAGA others(9): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0297 | 1 | 410 | 0.0024 | 16 | c.114 others(35): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40697851 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0024 | a0002c0024t0001 | a0002c0024t0001g0351 | 1 | 410 | 0.0024 | 16 | c.114 others(35): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40697874 | A | AGAGAGAG others(9): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0056 | 1 | 410 | 0.0024 | 16 | c.114 others(35): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 410 | 0.0024 | 16 | c.114 others(35): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
| COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(12): Show |
a0001a0010 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0002t0001g0201a0001c0002t0001g0316a0001c0003t0001g0030others(11): Show | 15 | 410 | 0.0366 | 16 | c.114 others(35): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTAT others(9): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 264 | 0.0038 | 16 | c.254 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050a0001c0001t0003g0013 | 2 | 264 | 0.0076 | 16 | c.254 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02970.hp2 |
a0001a0005 | a0001c0001a0005c0027 | a0001c0001t0004a0005c0027t0001 | a0001c0001t0004g0089a0005c0027t0001g0177 | 2 | 264 | 0.0076 | 16 | c.254 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 264 | 0.0038 | 16 | c.254 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0236 | 1 | 264 | 0.0038 | 16 | c.254 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47632725 | T | TGATAGAT others(9): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19058.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0002 | a0001c0001t0004g0073a0002c0003t0002g0191 | 2 | 264 | 0.0076 | 16 | c.219 others(35): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | ||||||
| CORIN_chr4_47589001_47843067 | 47757878 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0026 | a0002c0026t0002 | a0002c0026t0002g0257 | 1 | 264 | 0.0038 | 16 | c.617 others(33): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 4/21 | chr4 | TogoVar |