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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP4_chr16_76272401_76565757 | 76502513 | ATAATT | A | intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 NA20752.hp1 |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0010a0006c0009t0001 | a0001c0001t0001g0140 a0001c0001t0010g0240 a0006c0009t0001g0258 |
3 | 274 | 0.0110 | -5 | c.236 others(24): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522647 | TTTCTC | T | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01106.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0003a0001c0001t0006a0001c0004t0003others(1): Show | a0001c0001t0003g0022 a0001c0001t0003g0065 a0001c0001t0003g0066 others(4): Show |
7 | 274 | 0.0256 | -5 | c.275 others(22): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | CTTTCT | C | intron_variant | MODIFIER | HG01358.hp2 HG02647.hp1 HG02698.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0016a0001c0001t0020others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0097 a0001c0001t0001g0120 others(6): Show |
9 | 274 | 0.0329 | -5 | c.275 others(22): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124082348 | CAAAAA | C | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0043 a0001c0001t0002g0048 a0001c0001t0007g0039 others(1): Show |
4 | 64 | 0.0625 | -5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124109734 | TGATAG | T | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0002g0042 others(11): Show |
14 | 64 | 0.2188 | -5 | c.82+ others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124219145 | GGTTGA | G | intron_variant | MODIFIER | HG02970.hp1 NA19043.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0001 | a0001c0002t0002g0060 a0002c0004t0001g0001 |
2 | 64 | 0.0313 | -5 | c.83- others(20): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124255524 | AAAAAT | A | intron_variant | MODIFIER | HG01070.hp1 HG01261.hp1 HG02145.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0001t0002g0042 others(6): Show |
9 | 64 | 0.1406 | -5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124271689 | CTATCT | C | intron_variant | MODIFIER | HG02451.hp1 HG03139.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0046 a0001c0002t0004g0044 a0001c0002t0004g0047 others(1): Show |
4 | 64 | 0.0625 | -5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124297811 | TTATTA | T | intron_variant | MODIFIER | HG02257.hp2 HG02293.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0005g0040 others(2): Show |
5 | 64 | 0.0781 | -5 | c.381 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124614983 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(22): Show |
25 | 64 | 0.3906 | -5 | c.187 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124641126 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(19): Show |
22 | 64 | 0.3438 | -5 | c.187 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124713303 | TCTTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01261.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0002g0049 others(2): Show |
5 | 64 | 0.0781 | -5 | c.207 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | |||||||
CNTNAP5_chr2_124020287_124926219 | 124747785 | CTTCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0002 a0001c0001t0002g0022 a0001c0001t0002g0023 others(8): Show |
11 | 64 | 0.1719 | -5 | c.223 others(22): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124883070 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01261.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 others(22): Show |
25 | 64 | 0.3906 | -5 | c.343 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121104557 | AAAAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(55): Show |
a0001a0014a0019others(1): Show | a0001c0001a0014c0029a0019c0031others(1): Show | a0001c0001t0001a0001c0001t0003a0014c0029t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0194 others(53): Show |
58 | 330 | 0.1758 | -5 | c.809 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121172644 | AAAAAC | A | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 others(3): Show |
6 | 330 | 0.0182 | -5 | c.641 others(22): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 40/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121178485 | GTCTTT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00738.hp2 others(11): Show |
a0003a0012a0017others(1): Show | a0003c0004a0003c0020a0012c0018others(2): Show | a0003c0004t0002a0003c0020t0002a0012c0018t0002others(2): Show | a0003c0004t0002g0009 a0003c0004t0002g0124 a0003c0004t0002g0125 others(10): Show |
14 | 330 | 0.0424 | -5 | c.*13 others(16): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 876 | chr9 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43656820 | AAAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0360 others(1): Show |
4 | 384 | 0.0104 | -5 | c.-38 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691260 | GAAAGA | G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0370 a0001c0001t0001g0371 others(1): Show |
5 | 384 | 0.0130 | -5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691402 | AGGAAG | A | intron_variant | MODIFIER | HG02056.hp1 HG02148.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0219 a0001c0001t0001g0220 |
3 | 384 | 0.0078 | -5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43715006 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00738.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(13): Show |
16 | 384 | 0.0417 | -5 | c.-39 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43728353 | GTGTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(241): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(239): Show |
244 | 384 | 0.6354 | -5 | c.-39 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA3_chr17_42792625_42803704 | 42801511 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0006g0009 |
8 | 310 | 0.0258 | -5 | c.-28 others(16): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377059 | CGAGAG | C | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 406 | 0.0074 | -5 | c.372 others(22): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234380645 | TACCAA | T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01106.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0037 others(14): Show |
22 | 406 | 0.0542 | -5 | c.373 others(22): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA7_chr1_52679449_52703347 | 52684909 | ATTCAT | A | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0042 | a0001c0001t0007g0051 a0001c0001t0007g0052 a0001c0001t0007g0054 others(7): Show |
10 | 416 | 0.0240 | -5 | c.*28 others(16): Show |
COA7 | ENSG00000162377.6 | transcript | ENST00000371538.5 | protein_coding | 3/3 | 2806 | chr1 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103586200 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0197 a0003c0004t0002g0011 a0003c0004t0002g0099 others(4): Show |
8 | 382 | 0.0209 | -5 | c.386 others(22): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164686588 | TGAAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp2 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0033 | a0001c0001t0005a0001c0001t0056a0001c0002t0005others(3): Show | a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0056g0032 others(10): Show |
13 | 212 | 0.0613 | -5 | c.330 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 13/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164733319 | CATTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG01346.hp1 others(11): Show |
a0001a0017 | a0001c0001a0001c0010a0017c0021 | a0001c0001t0001a0001c0001t0007a0001c0001t0035others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0036 others(11): Show |
14 | 212 | 0.0660 | -5 | c.231 others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 3/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164745894 | CATTTT | C | intron_variant | MODIFIER | HG03130.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0195 a0001c0001t0011g0196 |
2 | 212 | 0.0094 | -5 | c.42- others(20): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164772237 | GCTGTT | G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0029others(20): Show | a0001c0001t0001g0103 a0001c0001t0027g0188 a0001c0001t0029g0179 others(46): Show |
50 | 212 | 0.2359 | -5 | c.42- others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164801438 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp2 others(36): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 others(35): Show |
39 | 212 | 0.1840 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164803582 | TAAATA | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01109.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0027others(16): Show | a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0011g0195 others(30): Show |
33 | 212 | 0.1557 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164807801 | CTTTAT | C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01261.hp1 others(8): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0032others(1): Show | a0001c0001t0018a0001c0001t0044a0001c0002t0002others(6): Show | a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0044g0173 others(8): Show |
11 | 212 | 0.0519 | -5 | c.41+ others(22): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164845654 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02280.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0002a0001c0002t0013a0001c0010t0048others(3): Show | a0001c0001t0002g0074 a0001c0002t0013g0182 a0001c0010t0048g0185 others(9): Show |
12 | 212 | 0.0566 | -5 | c.-40 others(16): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 3832 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATAT | A | intron_variant | MODIFIER | HG02056.hp1 NA18522.hp1 |
a0001a0010 | a0001c0007a0010c0022 | a0001c0007t0001a0010c0022t0001 | a0001c0007t0001g0178 a0010c0022t0001g0126 |
2 | 230 | 0.0087 | -5 | c.376 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51060899 | ATAGAC | A | intron_variant | MODIFIER | NA18983.hp1 NA19065.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 a0002c0002t0002g0191 |
2 | 230 | 0.0087 | -5 | c.109 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51070781 | CTAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG01261.hp2 others(2): Show |
a0001a0003 | a0001c0009a0003c0001a0003c0013 | a0001c0009t0001a0003c0001t0001a0003c0013t0001 | a0001c0009t0001g0017 a0003c0001t0001g0025 a0003c0001t0001g0113 others(2): Show |
5 | 230 | 0.0217 | -5 | c.109 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51117201 | ATTTAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0005a0001c0006others(38): Show | a0001c0003t0001a0001c0003t0003a0001c0005t0001others(54): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(103): Show |
106 | 230 | 0.4609 | -5 | c.957 others(24): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51237318 | GAGTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(88): Show |
a0001a0002a0003others(10): Show | a0001c0003a0001c0005a0001c0006others(25): Show | a0001c0003t0001a0001c0003t0003a0001c0005t0001others(34): Show | a0001c0003t0001g0008 a0001c0003t0001g0083 a0001c0003t0001g0088 others(88): Show |
91 | 230 | 0.3957 | -5 | c.42- others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51288781 | TTTAGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00642.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0005a0001c0009others(13): Show | a0001c0003t0001a0001c0005t0003a0001c0009t0001others(14): Show | a0001c0003t0001g0157 a0001c0005t0003g0134 a0001c0005t0003g0150 others(33): Show |
36 | 230 | 0.1565 | -5 | c.41+ others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51300140 | CTGTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(105): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0005a0001c0006others(36): Show | a0001c0003t0001a0001c0005t0003a0001c0005t0008others(48): Show | a0001c0003t0001g0008 a0001c0003t0001g0047 a0001c0003t0001g0067 others(105): Show |
108 | 230 | 0.4696 | -5 | c.41+ others(22): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30890501 | GGTAAA | G | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02818.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 a0001c0001t0004g0111 a0001c0001t0004g0155 others(2): Show |
5 | 478 | 0.0105 | -5 | c.*71 others(14): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 12/12 | 714 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COG1_chr17_73188055_73213507 | 73207092 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(224): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 others(89): Show |
227 | 428 | 0.5304 | -5 | c.273 others(20): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45474151 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(209): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 others(205): Show |
212 | 342 | 0.6199 | -5 | c.175 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70503595 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0040 others(157): Show |
161 | 354 | 0.4548 | -5 | c.106 others(24): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39674315 | TCTTTA | T | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 |
3 | 370 | 0.0081 | -5 | c.429 others(22): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39735721 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(128): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(7): Show | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(127): Show |
131 | 370 | 0.3541 | -5 | c.182 others(24): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | chr13 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23449380 | TTAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(72): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(64): Show |
75 | 272 | 0.2757 | -5 | c.170 others(22): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69331453 | CAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0003c0004t0003 | a0001c0002t0003g0128 a0001c0002t0004g0027 a0001c0002t0004g0121 others(2): Show |
8 | 360 | 0.0222 | -5 | c.158 others(22): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4/5 | chr16 | TogoVar |