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 | 148253028 | A | AGATAGAT others(8): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0018 | 1 | 39 | 0.0256 | 15 | c.338 others(36): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148351744 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 a0001c0004t0003g0036 |
2 | 13 | 0.1538 | 15 | c.347 others(36): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148405420 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0038 |
2 | 3 | 0.6667 | 15 | c.371 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148413401 | A | ATAAATAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0014 | a0003c0014t0021 | a0003c0014t0021g0022 | 1 | 26 | 0.0385 | 15 | c.379 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 23/23 | chr7 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41888506 | C | CTAAAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 HG03669.hp2 HG03704.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0002a0001c0001t0003a0006c0007t0011 | a0001c0001t0002g0004 a0001c0001t0003g0093 a0001c0001t0003g0095 others(1): Show |
4 | 11 | 0.3636 | 15 | c.*54 others(26): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2029 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41937114 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02083.hp2 HG03041.hp1 |
a0002a0026 | a0002c0002a0026c0019 | a0002c0002t0001a0026c0019t0001 | a0002c0002t0001g0059 a0002c0002t0001g0063 a0026c0019t0001g0066 |
3 | 24 | 0.1250 | 15 | c.223 others(34): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41981892 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01952.hp2 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0003a0001c0001t0018a0002c0002t0001others(8): Show | a0001c0001t0003g0097 a0001c0001t0018g0026 a0002c0002t0001g0049 others(8): Show |
11 | 28 | 0.3929 | 15 | c.147 others(34): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42030813 | G | GGAGGAGA others(8): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0030 | a0030c0021 | a0030c0021t0027 | a0030c0021t0027g0064 | 1 | 29 | 0.0345 | 15 | c.391 others(34): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42075836 | C | CTTATTAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01981.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0007a0006c0041 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0002g0011 a0001c0001t0003g0096 a0001c0001t0003g0104 others(3): Show |
6 | 23 | 0.2609 | 15 | c.390 others(32): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76307517 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18994.hp2 NA19009.hp1 others(2): Show |
a0001a0002a0005 | a0001c0004a0002c0005a0005c0008 | a0001c0004t0001a0002c0005t0004a0005c0008t0001 | a0001c0004t0001g0155 a0002c0005t0004g0132 a0002c0005t0004g0173 others(2): Show |
5 | 272 | 0.0184 | 15 | c.86- others(30): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18955.hp1 NA19062.hp1 others(1): Show |
a0005a0008 | a0005c0008a0008c0017 | a0005c0008t0001a0005c0008t0003a0008c0017t0002 | a0005c0008t0001g0060 a0005c0008t0001g0061 a0005c0008t0003g0152 others(1): Show |
4 | 107 | 0.0374 | 15 | c.133 others(34): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0220 | 1 | 104 | 0.0096 | 15 | c.133 others(34): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0221 | 1 | 104 | 0.0096 | 15 | c.133 others(34): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0008 | a0008c0017 | a0008c0017t0002 | a0008c0017t0002g0214 | 1 | 104 | 0.0096 | 15 | c.133 others(34): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | C | CTTTCTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0119 others(9): Show |
12 | 175 | 0.0686 | 15 | c.275 others(32): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124448269 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0021 | 1 | 11 | 0.0909 | 15 | c.918 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124541179 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0010 | a0001c0002t0002g0060 a0001c0002t0010g0032 |
2 | 8 | 0.2500 | 15 | c.164 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706746 | C | CAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0010 | a0001c0001t0001g0002 a0001c0002t0001g0053 a0001c0002t0001g0063 others(1): Show |
4 | 38 | 0.1053 | 15 | c.207 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706795 | A | AAGAAGAA others(8): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 46 | 0.0217 | 15 | c.207 others(36): 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(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0006 a0001c0002t0003g0004 |
2 | 53 | 0.0377 | 15 | c.207 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707072 | A | AAGGAGGA others(8): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 62 | 0.0161 | 15 | c.207 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707128 | A | AGAAGAAG others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0003 | a0005c0003t0008 | a0005c0003t0008g0036 | 1 | 57 | 0.0175 | 15 | c.207 others(36): 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(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 22 | 0.0455 | 15 | c.207 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124724144 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0016 a0001c0002t0019g0051 |
2 | 43 | 0.0465 | 15 | c.207 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644710 | T | TTAGATGA others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 286 | 0.0035 | 15 | c.264 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43656820 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 325 | 0.0031 | 15 | c.-38 others(32): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691260 | G | GAAAGAAA others(8): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02055.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0187 others(3): Show |
6 | 375 | 0.0160 | 15 | c.-39 others(34): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691332 | A | AGAAAGAG others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 | 1 | 376 | 0.0027 | 15 | c.-39 others(34): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370410 | A | ACCTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 344 | 0.0029 | 15 | c.-30 others(26): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3045 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234370412 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp2 others(72): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0052 others(38): Show |
75 | 102 | 0.7353 | 15 | c.-30 others(26): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTTGT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 181 | 0.0166 | 15 | c.372 others(32): 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(8): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01358.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(7): Show |
13 | 191 | 0.0681 | 15 | c.372 others(32): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164783418 | A | AGAAGAGA others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp1 others(10): Show |
a0001a0003a0015 | a0001c0001a0001c0025a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0025t0037others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0073 others(10): Show |
13 | 210 | 0.0619 | 15 | c.42- others(32): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164801438 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 49 | 0.0204 | 15 | c.41+ others(32): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51018905 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0128 | 1 | 141 | 0.0071 | 15 | c.376 others(34): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098220 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 228 | 0.0044 | 15 | c.958 others(34): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0056 | a0003c0056t0002 | a0003c0056t0002g0059 | 1 | 84 | 0.0119 | 15 | c.958 others(34): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119 a0001c0001t0001g0147 a0001c0001t0001g0248 others(1): Show |
4 | 119 | 0.0336 | 15 | c.629 others(32): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895053 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 62 | 0.0161 | 15 | c.*52 others(26): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73207092 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03942.hp2 NA18973.hp2 others(1): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0001a0002c0006t0001 | a0002c0001t0001g0076 a0002c0001t0001g0080 a0002c0006t0001g0031 |
4 | 10 | 0.4000 | 15 | c.273 others(30): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45497784 | T | TCAACAAC others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0040 a0001c0002t0001g0260 a0001c0002t0001g0287 others(24): Show |
28 | 74 | 0.3784 | 15 | c.148 others(34): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTCTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 10 | 0.1000 | 15 | c.-40 others(26): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01256.hp1 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0167 a0001c0001t0001g0212 others(24): Show |
28 | 37 | 0.7568 | 15 | c.-40 others(26): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 a0001c0001t0003g0061 |
2 | 8 | 0.2500 | 15 | c.788 others(32): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730773 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02040.hp2 HG03239.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0131 others(7): Show |
15 | 46 | 0.3261 | 15 | c.182 others(34): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730790 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18967.hp2 NA19003.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show |
5 | 366 | 0.0137 | 15 | c.182 others(34): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23449380 | T | TTAAAATA others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 a0002c0002t0003g0109 |
3 | 124 | 0.0242 | 15 | c.169 others(32): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69344418 | G | GAAAACTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0107 | 1 | 358 | 0.0028 | 15 | c.-48 others(26): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 4855 | chr16 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103065522 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0155 a0001c0002t0003g0063 a0001c0002t0003g0064 others(2): Show |
5 | 39 | 0.1282 | 15 | c.651 others(32): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02451.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0003a0001c0005t0005a0002c0002t0002others(3): Show | a0001c0001t0003g0155 a0001c0005t0005g0170 a0002c0002t0002g0163 others(3): Show |
6 | 141 | 0.0426 | 15 | c.495 others(34): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar |