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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02015.hp2 |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0008 | a0001c0001t0001g0205 a0010c0010t0008g0090 a0010c0010t0008g0102 |
3 | 229 | 0.0131 | 42 | c.*43 others(53): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTTTCT others(35): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02074.hp2 HG03704.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0032a0001c0004t0001others(3): Show | a0001c0001t0001g0195 a0001c0003t0032g0109 a0001c0004t0001g0133 others(3): Show |
6 | 232 | 0.0259 | 42 | c.*43 others(53): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTTTCT others(35): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0329 | 1 | 227 | 0.0044 | 42 | c.*43 others(53): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879809 | T | TTTTTCTT others(35): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0037 | a0037c0063 | a0037c0063t0020 | a0037c0063t0020g0009 | 1 | 354 | 0.0028 | 42 | c.*43 others(53): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2530 | chr16 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154415227 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0127 | 1 | 245 | 0.0041 | 42 | c.946 others(57): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | |||||||
CNMD_chr13_52698264_52744820 | 52701790 | T | TACACACA others(35): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 325 | 0.0031 | 42 | c.*18 others(53): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1473 | chr13 | TogoVar | |||||||
CNNM1_chr10_99324356_99399330 | 99356562 | C | CAGAAAGA others(35): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 119 | 0.0084 | 42 | c.157 others(59): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 73 | 0.0137 | 42 | c.159 others(61): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133779 | C | CTCCACCT others(35): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 221 | 0.0045 | 42 | c.-42 others(53): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3982 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133923 | C | CCCCTCCC others(35): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 205 | 0.0049 | 42 | c.-41 others(53): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3838 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133953 | C | CCTCCCTC others(35): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02258.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(20): Show |
27 | 208 | 0.1298 | 42 | c.-40 others(53): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3808 | chr19 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77807276 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 73 | 0.0137 | 42 | c.5+1 others(57): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77819049 | G | GACACACA others(35): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 75 | 0.0133 | 42 | c.5+2 others(53): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNPY1_chr7_155496129_155551559 | 155527056 | T | TTCTTTCT others(35): Show |
intron_variant | MODIFIER | HG02523.hp2 HG03130.hp2 NA18984.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0154 a0001c0001t0002g0160 a0001c0003t0001g0083 |
3 | 397 | 0.0076 | 42 | c.100 others(61): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2340710 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 15 | 0.0667 | 42 | c.-89 others(59): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2815873 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 38 | 0.0263 | 42 | c.359 others(59): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1160344 | G | GTATGTAT others(35): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0085 | 1 | 32 | 0.0313 | 42 | c.55+ others(59): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146502225 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | 42 | c.98- others(61): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147510850 | C | CATATACA others(35): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 6 | 0.1667 | 42 | c.177 others(63): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147635184 | C | CTATATAT others(35): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0032 | 1 | 28 | 0.0357 | 42 | c.189 others(61): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41934112 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01943.hp1 HG01981.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 a0002c0002t0001g0056 a0002c0002t0001g0062 |
3 | 85 | 0.0353 | 42 | c.223 others(61): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42090783 | C | CATATGTG others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01106.hp2 others(7): Show |
a0001a0006a0007others(1): Show | a0001c0001a0001c0012a0006c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(4): Show | a0001c0001t0002g0011 a0001c0001t0003g0097 a0001c0001t0003g0100 others(7): Show |
10 | 66 | 0.1515 | 42 | c.197 others(61): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 2/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 104 | 0.0096 | 42 | c.133 others(61): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(35): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 7 | 0.1429 | 42 | c.175 others(61): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(35): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02970.hp2 HG03139.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0013a0001c0001t0018a0001c0002t0005others(1): Show | a0001c0001t0013g0042 a0001c0001t0018g0021 a0001c0002t0005g0045 others(1): Show |
4 | 10 | 0.4000 | 42 | c.175 others(61): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707039 | A | AAGAAGAA others(35): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 50 | 0.0200 | 42 | c.207 others(63): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644799 | C | CAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 210 | 0.0048 | 42 | c.264 others(57): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(35): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 91 | 0.0110 | 42 | c.-38 others(61): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(35): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0111 a0001c0001t0001g0124 others(1): Show |
5 | 390 | 0.0128 | 42 | c.373 others(57): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA18981.hp2 NA18984.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 others(1): Show |
4 | 30 | 0.1333 | 42 | c.128 others(61): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03927.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0156 |
3 | 29 | 0.1034 | 42 | c.128 others(61): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75180562 | C | CAATATAT others(35): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0028 | 1 | 203 | 0.0049 | 42 | c.216 others(59): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 11/65 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(35): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02683.hp1 NA19074.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0005 | a0001c0003t0001g0116 a0001c0003t0001g0143 a0001c0003t0002g0147 others(1): Show |
4 | 243 | 0.0165 | 42 | c.294 others(59): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200046 | A | AAAGCATA others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 HG06807.hp2 |
a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0140 a0002c0012t0002g0214 |
2 | 133 | 0.0150 | 42 | c.877 others(57): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200046 | A | AAAGCATA others(35): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01109.hp2 HG01169.hp1 others(54): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0065 a0001c0001t0001g0075 others(54): Show |
57 | 188 | 0.3032 | 42 | c.877 others(57): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437546 | G | GCACACAC others(35): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0158 | 1 | 276 | 0.0036 | 42 | c.107 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501954 | C | CTCCACAG others(35): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03225.hp1 HG03942.hp1 others(2): Show |
a0001a0003a0013 | a0001c0002a0001c0003a0003c0023others(1): Show | a0001c0002t0003a0001c0003t0001a0003c0023t0002others(1): Show | a0001c0002t0003g0123 a0001c0003t0001g0069 a0003c0023t0002g0118 others(2): Show |
5 | 266 | 0.0188 | 42 | c.268 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45501954 | C | CTTCAAAG others(35): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03540.hp2 HG04115.hp1 others(2): Show |
a0001a0027 | a0001c0003a0001c0019a0001c0034others(1): Show | a0001c0003t0001a0001c0019t0003a0001c0034t0001others(1): Show | a0001c0003t0001g0205 a0001c0003t0001g0259 a0001c0019t0003g0150 others(2): Show |
5 | 266 | 0.0188 | 42 | c.268 others(61): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
COL20A1_chr20_63288186_63339806 | 63294518 | A | AGCCGTGT others(35): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 288 | 0.0035 | 42 | c.-10 others(57): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63297313 | C | CCCCAGCT others(35): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0019 | a0019c0028 | a0019c0028t0021 | a0019c0028t0021g0024 | 1 | 288 | 0.0035 | 42 | c.83- others(55): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63297325 | G | GGACTCAG others(35): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01109.hp2 others(9): Show |
a0001a0003a0018 | a0001c0001a0001c0014a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(4): Show | a0001c0001t0001g0040 a0001c0001t0007g0041 a0001c0001t0020g0039 others(8): Show |
12 | 288 | 0.0417 | 42 | c.83- others(55): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63297330 | T | TAGCTCAG others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02630.hp2 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0007c0015t0004 | a0001c0001t0001g0029 a0007c0015t0004g0249 a0007c0015t0004g0250 |
3 | 275 | 0.0109 | 42 | c.83- others(55): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098664 | T | TATAAATA others(35): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 191 | 0.0052 | 42 | c.181 others(61): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098664 | T | TATAAATA others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01258.hp1 HG01928.hp2 others(9): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0006a0001c0022t0003 | a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0162 others(9): Show |
12 | 202 | 0.0594 | 42 | c.181 others(61): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56211187 | G | GTATATAT others(35): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 247 | 0.0040 | 42 | c.-38 others(61): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAGAAAGA others(35): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0033 | 1 | 73 | 0.0137 | 42 | c.315 others(59): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178232828 | T | TCGCCCCG others(35): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0068 | 1 | 215 | 0.0047 | 42 | c.*58 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 4789 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0134 | 1 | 138 | 0.0072 | 42 | c.730 others(57): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01928.hp1 NA18945.hp2 |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0001a0003c0007t0001 | a0002c0002t0001g0001 a0002c0002t0001g0090 a0003c0007t0001g0097 |
3 | 140 | 0.0214 | 42 | c.730 others(57): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19060.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0003 | a0002c0002t0001g0191 a0003c0004t0003g0010 |
2 | 139 | 0.0144 | 42 | c.730 others(57): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar |