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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02809.hp1 HG02970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0003g0107 a0001c0001t0009g0003 a0001c0002t0001g0061 others(2): Show |
5 | 264 | 0.0189 | 8 | c.254 others(25): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47623096 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01928.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0157 others(6): Show |
9 | 264 | 0.0341 | 8 | c.254 others(25): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 19/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47632725 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01175.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0002g0015 a0001c0001t0002g0039 a0001c0001t0002g0041 others(13): Show |
16 | 264 | 0.0606 | 8 | c.219 others(27): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47757878 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG02647.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0002t0001g0010 others(6): Show |
9 | 264 | 0.0341 | 8 | c.617 others(25): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47772076 | C | CATAGATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(41): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0090 others(41): Show |
44 | 264 | 0.1667 | 8 | c.410 others(25): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98117276 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02976.hp2 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0208 a0001c0001t0001g0276 a0001c0001t0003g0273 others(2): Show |
5 | 342 | 0.0146 | 8 | c.*74 others(19): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 3698 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98153649 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0011 | a0001c0001t0003g0137 a0001c0001t0008g0199 a0001c0001t0011g0272 |
3 | 342 | 0.0088 | 8 | c.201 others(25): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98158836 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01433.hp2 HG04184.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0214 others(4): Show |
7 | 342 | 0.0205 | 8 | c.1-1 others(21): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98165111 | C | CATGTACC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0292 a0001c0001t0005g0123 others(2): Show |
5 | 342 | 0.0146 | 8 | c.1-7 others(21): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98181232 | G | GTGCCGGA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(72): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0069 a0001c0001t0001g0148 a0001c0001t0001g0161 others(72): Show |
75 | 342 | 0.2193 | 8 | c.-1+ others(25): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
CORO2A_chr9_98115975_98197637 | 98192481 | C | CCGGGGGG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(332): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(328): Show |
335 | 342 | 0.9795 | 8 | c.-1+ others(19): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68575577 | G | GCCCCCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(63): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 others(63): Show |
66 | 256 | 0.2578 | 8 | c.-36 others(19): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3415 | chr15 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68576173 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG02559.hp2 HG02630.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0056 others(12): Show |
15 | 256 | 0.0586 | 8 | c.-30 others(19): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2819 | chr15 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68587049 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 NA18944.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0039 a0001c0001t0005g0072 a0001c0002t0002g0071 |
3 | 256 | 0.0117 | 8 | c.15+ others(23): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68633514 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0132 a0001c0001t0002g0078 a0001c0001t0002g0079 others(8): Show |
11 | 256 | 0.0430 | 8 | c.16- others(25): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68662006 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0006 | a0001c0001t0001g0104 a0001c0004t0006g0032 |
2 | 256 | 0.0078 | 8 | c.216 others(27): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68669187 | G | GAAGCAAG others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0017 a0001c0001t0009g0014 |
2 | 256 | 0.0078 | 8 | c.216 others(27): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68672159 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02486.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0213 a0001c0001t0003g0068 a0001c0001t0005g0073 others(1): Show |
4 | 256 | 0.0156 | 8 | c.217 others(27): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68701478 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0005 a0001c0002t0001g0218 a0001c0002t0002g0044 others(5): Show |
8 | 256 | 0.0313 | 8 | c.333 others(25): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
COTL1_chr16_84560596_84623078 | 84581163 | A | ATATGTAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0083 a0001c0001t0001g0113 others(7): Show |
10 | 440 | 0.0227 | 8 | c.318 others(25): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84615853 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0045 a0001c0001t0001g0046 others(29): Show |
32 | 440 | 0.0727 | 8 | c.160 others(25): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84615876 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18974.hp2 NA19004.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0397 a0001c0001t0002g0396 a0002c0002t0001g0010 others(1): Show |
4 | 440 | 0.0091 | 8 | c.160 others(25): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COTL1_chr16_84560596_84623078 | 84616504 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(23): Show |
27 | 440 | 0.0614 | 8 | c.160 others(23): Show |
COTL1 | ENSG00000103187.8 | transcript | ENST00000262428.5 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
COX10_chr17_14064504_14213677 | 14163236 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0002others(17): Show | a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0132 others(69): Show |
73 | 322 | 0.2267 | 8 | c.695 others(25): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14166654 | C | CAGGCTGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(126): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0001g0018 a0001c0001t0001g0120 a0001c0001t0003g0001 others(125): Show |
129 | 322 | 0.4006 | 8 | c.695 others(25): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14182259 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02165.hp1 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0006 | a0001c0003t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0003t0002g0072 a0002c0002t0001g0002 a0002c0002t0002g0189 others(1): Show |
5 | 322 | 0.0155 | 8 | c.696 others(25): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COX11_chr17_54955422_54973654 | 54967042 | G | GCGCACAC others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02080.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0093 |
11 | 436 | 0.0252 | 8 | c.366 others(25): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
COX11_chr17_54955422_54973654 | 54967042 | G | GCGCGCAC others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0072 others(4): Show |
9 | 436 | 0.0206 | 8 | c.366 others(25): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70354831 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 |
3 | 376 | 0.0080 | 8 | c.69+ others(23): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
COX16_chr14_70320081_70364683 | 70354841 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(6): Show |
10 | 376 | 0.0266 | 8 | c.69+ others(23): Show |
COX16 | ENSG00000133983.16 | transcript | ENST00000389912.7 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
COX17_chr3_119664532_119682406 | 119679247 | G | GAAATCTA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(22): Show |
113 | 420 | 0.2691 | 8 | c.-19 others(19): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1842 | chr3 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31633906 | T | TAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0024 others(4): Show |
13 | 300 | 0.0433 | 8 | c.-40 others(19): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4005 | chr20 | TogoVar | |||||||
COX4I2_chr20_31632912_31650006 | 31639558 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(6): Show |
30 | 300 | 0.1000 | 8 | c.83- others(21): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31640954 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01167.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0062 a0001c0001t0001g0081 others(6): Show |
15 | 300 | 0.0500 | 8 | c.247 others(23): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COX4I2_chr20_31632912_31650006 | 31649058 | C | CTATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01070.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(26): Show |
45 | 300 | 0.1500 | 8 | c.*41 others(19): Show |
COX4I2 | ENSG00000131055.5 | transcript | ENST00000376075.4 | protein_coding | 4053 | chr20 | TogoVar | |||||||
COX5A_chr15_74914791_74943073 | 74939066 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01069.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0058 others(26): Show |
33 | 428 | 0.0771 | 8 | c.-10 others(19): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 994 | chr15 | TogoVar | |||||||
COX6A1_chr12_120433113_120445730 | 120437394 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
64 | 426 | 0.1502 | 8 | c.-73 others(17): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 718 | chr12 | TogoVar | |||||||
COX6B1_chr19_35643323_35663782 | 35655755 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03654.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0174 a0001c0001t0001g0180 others(3): Show |
6 | 440 | 0.0136 | 8 | c.207 others(25): Show |
COX6B1 | ENSG00000126267.11 | transcript | ENST00000649813.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COX6C_chr8_99872865_99898707 | 99883453 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01981.hp2 HG02027.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0074 a0001c0002t0002g0014 |
5 | 356 | 0.0140 | 8 | c.*15 others(25): Show |
COX6C | ENSG00000164919.11 | transcript | ENST00000520468.7 | protein_coding | 3/3 | chr8 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46750195 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0147 others(29): Show |
32 | 300 | 0.1067 | 8 | c.-49 others(27): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46754718 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18956.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0003g0175 |
3 | 300 | 0.0100 | 8 | c.-49 others(27): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46841335 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01261.hp2 others(24): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0123 a0001c0001t0001g0159 a0001c0001t0001g0238 others(24): Show |
27 | 300 | 0.0900 | 8 | c.-50 others(25): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46864644 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0115 others(76): Show |
79 | 300 | 0.2633 | 8 | c.-10 others(29): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
COX7B2_chr4_46729827_46914245 | 46905814 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01123.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0014 others(19): Show |
23 | 300 | 0.0767 | 8 | c.-10 others(27): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
COX7B_chrX_77894468_77912376 | 77909918 | G | GGTGGTGA others(1): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0019 | 1 | 294 | 0.0034 | 8 | c.*46 others(19): Show |
COX7B | ENSG00000131174.7 | transcript | ENST00000650309.2 | protein_coding | 2543 | chrX | TogoVar | |||||||
COX8A_chr11_63969620_63981543 | 63976842 | G | GTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 |
3 | 336 | 0.0089 | 8 | c.*52 others(17): Show |
COX8A | ENSG00000176340.4 | transcript | ENST00000314133.4 | protein_coding | 300 | chr11 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130392347 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01975.hp1 others(43): Show |
a0001a0003a0006 | a0001c0001a0003c0006a0006c0010 | a0001c0001t0001a0001c0001t0002a0003c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(12): Show |
46 | 434 | 0.1060 | 8 | c.*43 others(19): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4240 | chr7 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130392391 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03017.hp1 HG03490.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 others(7): Show |
17 | 434 | 0.0392 | 8 | c.*43 others(19): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 4284 | chr7 | TogoVar | |||||||
CPA2_chr7_130261863_130294798 | 130267773 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(67): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(44): Show |
70 | 400 | 0.1750 | 8 | c.71+ others(21): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130283441 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(50): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 others(38): Show |
53 | 400 | 0.1325 | 8 | c.107 others(27): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |