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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 147919459 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 40 | 0.0250 | 18 | c.225 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147925154 | A | AGAGAAGG others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 NA20129.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0023a0001c0009t0019 | a0001c0003t0023g0030 a0001c0009t0019g0027 |
2 | 40 | 0.0500 | 18 | c.225 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147949440 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0033 | 1 | 40 | 0.0250 | 18 | c.225 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147981786 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0003 | a0001c0001t0006g0009 a0001c0004t0003g0035 a0001c0004t0003g0036 |
3 | 40 | 0.0750 | 18 | c.238 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148022480 | A | AAAAAGAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0010a0001c0005t0008 | a0001c0002t0010g0002 a0001c0005t0008g0005 |
2 | 40 | 0.0500 | 18 | c.238 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148283255 | A | AGAAAAGA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 40 | 0.0250 | 18 | c.347 others(39): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148405420 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0034 | 1 | 40 | 0.0250 | 18 | c.371 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148413401 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0014 | 1 | 40 | 0.0250 | 18 | c.379 others(37): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41934100 | C | CATAAATA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0044 | a0001c0044t0015 | a0001c0044t0015g0013 | 1 | 108 | 0.0093 | 18 | c.223 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41934100 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02040.hp1 HG02040.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0012a0001c0047others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0012t0002others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0024 others(7): Show |
10 | 108 | 0.0926 | 18 | c.223 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41937114 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19030.hp1 |
a0005a0008 | a0005c0005a0008c0016 | a0005c0005t0006a0008c0016t0001 | a0005c0005t0006g0073 a0008c0016t0001g0036 |
2 | 108 | 0.0185 | 18 | c.223 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41956387 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(20): Show |
a0001a0006a0010others(1): Show | a0001c0001a0001c0012a0001c0044others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(20): Show |
23 | 108 | 0.2130 | 18 | c.187 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 12/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41981892 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(30): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0012a0001c0043others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 others(30): Show |
33 | 108 | 0.3056 | 18 | c.147 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41981916 | T | TAATAATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 108 | 0.0093 | 18 | c.147 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42030750 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02738.hp2 |
a0002a0021 | a0002c0002a0021c0015 | a0002c0002t0024a0021c0015t0001 | a0002c0002t0024g0061 a0021c0015t0001g0046 |
2 | 108 | 0.0185 | 18 | c.391 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42030813 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 108 | 0.0093 | 18 | c.391 others(37): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76451599 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0003 | a0003c0003t0027 | a0003c0003t0027g0237 | 1 | 274 | 0.0037 | 18 | c.107 others(35): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460771 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0203 | 1 | 274 | 0.0037 | 18 | c.133 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76496085 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0012a0002c0042others(1): Show | a0001c0001t0015a0002c0012t0008a0002c0042t0008others(1): Show | a0001c0001t0015g0099 a0001c0001t0015g0272 a0002c0012t0008g0242 others(2): Show |
5 | 274 | 0.0183 | 18 | c.223 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76496107 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp1 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(9): Show | a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0001g0217 others(21): Show |
24 | 274 | 0.0876 | 18 | c.223 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 14/23 | chr16 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76511838 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18612.hp2 NA18962.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0004 | a0001c0001t0001g0158 a0001c0001t0001g0232 a0001c0004t0001g0107 others(3): Show |
6 | 274 | 0.0219 | 18 | c.236 others(37): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124057448 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(3): Show | a0001c0001t0001g0002 a0001c0001t0013g0041 a0001c0001t0017g0012 others(3): Show |
6 | 64 | 0.0938 | 18 | c.82+ others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124105046 | T | TAAGCATA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 64 | 0.0156 | 18 | c.82+ others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124245651 | G | GTATATAT others(11): Show |
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 | 18 | c.381 others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124419140 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 64 | 0.0156 | 18 | c.529 others(35): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124510518 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0001 | 1 | 64 | 0.0156 | 18 | c.132 others(37): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706795 | A | AAGAAGAA others(11): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0009 | 1 | 64 | 0.0156 | 18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706916 | G | GAGAAGAA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 64 | 0.0156 | 18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707140 | G | GGAAGAAG others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0023 a0001c0001t0018g0021 |
2 | 64 | 0.0313 | 18 | c.207 others(39): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124909824 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0045 | 1 | 64 | 0.0156 | 18 | c.365 others(37): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644799 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18948.hp2 NA18956.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0208 others(1): Show |
4 | 384 | 0.0104 | 18 | c.264 others(33): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0006a0002c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0019 others(29): Show |
33 | 384 | 0.0859 | 18 | c.-38 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691265 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 384 | 0.0026 | 18 | c.-39 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691404 | G | GAAGAAAG others(11): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 384 | 0.0026 | 18 | c.-39 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691412 | G | GAAGGAAG others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 384 | 0.0026 | 18 | c.-39 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43710367 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0367 | 1 | 384 | 0.0026 | 18 | c.-39 others(37): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370410 | A | ACCTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0028 |
3 | 406 | 0.0074 | 18 | c.-30 others(29): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3045 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370412 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00639.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0118 a0001c0001t0002g0004 a0002c0002t0001g0001 others(4): Show |
9 | 406 | 0.0222 | 18 | c.-30 others(29): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTGT others(11): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 406 | 0.0025 | 18 | c.372 others(35): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02080.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0107 a0001c0001t0002g0031 a0001c0001t0002g0090 others(2): Show |
6 | 406 | 0.0148 | 18 | c.372 others(35): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0108 |
2 | 406 | 0.0049 | 18 | c.372 others(35): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234383032 | A | AGAAGGAA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show |
10 | 406 | 0.0246 | 18 | c.373 others(33): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 406 | 0.0025 | 18 | c.373 others(33): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164789020 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01934.hp1 NA18966.hp1 |
a0001a0003 | a0001c0001a0001c0025a0003c0004 | a0001c0001t0001a0001c0025t0037a0003c0004t0014 | a0001c0001t0001g0061 a0001c0025t0037g0069 a0003c0004t0014g0059 |
3 | 212 | 0.0142 | 18 | c.42- others(35): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818767 | A | AACATATA others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0046 | a0001c0002t0010g0017 a0001c0002t0010g0018 a0001c0002t0046g0016 |
3 | 212 | 0.0142 | 18 | c.41+ others(35): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818769 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02723.hp1 HG02895.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0050a0001c0002t0013 | a0001c0001t0001g0045 a0001c0001t0050g0020 a0001c0002t0013g0053 |
3 | 212 | 0.0142 | 18 | c.41+ others(35): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061946 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0114 | 1 | 230 | 0.0044 | 18 | c.109 others(39): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061948 | G | GATACACA others(11): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0109 | 1 | 230 | 0.0044 | 18 | c.109 others(39): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51061952 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02922.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0004a0003c0001others(1): Show | a0001c0025t0002a0002c0004t0007a0003c0001t0005others(1): Show | a0001c0025t0002g0015 a0002c0004t0007g0016 a0003c0001t0005g0043 others(3): Show |
6 | 230 | 0.0261 | 18 | c.109 others(39): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00735.hp2 others(21): Show |
a0001a0003a0010others(2): Show | a0001c0003a0001c0005a0001c0010others(10): Show | a0001c0003t0001a0001c0003t0003a0001c0005t0001others(13): Show | a0001c0003t0001g0083 a0001c0003t0001g0088 a0001c0003t0001g0098 others(21): Show |
24 | 230 | 0.1044 | 18 | c.109 others(39): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar |