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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN1_chr12_40687439_41077415 | 41057019 | T | TGATATTT others(20): Show |
intron_variant | MODIFIER | HG02897.hp2 NA19062.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0022 | a0001c0002t0001g0044 a0001c0002t0022g0171 |
2 | 198 | 0.0101 | 27 | c.298 others(48): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74558982 | C | CAATAATA others(20): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0158 | 1 | 4 | 0.2500 | 27 | c.-80 others(46): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2520259 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0080 | 1 | 38 | 0.0263 | 27 | c.-88 others(46): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2534819 | A | ATGCTGCT others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0009a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0009g0052 a0001c0002t0001g0110 a0001c0002t0002g0063 others(4): Show |
7 | 56 | 0.1250 | 27 | c.-88 others(46): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705809 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02615.hp1 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0086 a0001c0001t0003g0006 a0001c0001t0004g0081 others(5): Show |
8 | 116 | 0.0690 | 27 | c.56- others(44): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99201351 | T | TTCCTTCC others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp1 HG02132.hp2 others(4): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0004a0006c0005others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0004g0011 a0001c0001t0005g0048 a0001c0001t0009g0043 others(4): Show |
7 | 14 | 0.5000 | 27 | c.-20 others(50): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99727312 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02258.hp2 NA18939.hp1 |
a0003a0006 | a0003c0003a0006c0005 | a0003c0003t0017a0006c0005t0003a0006c0005t0018 | a0003c0003t0017g0065 a0006c0005t0003g0045 a0006c0005t0018g0028 |
3 | 20 | 0.1500 | 27 | c.56- others(44): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245301 | T | TATAACAT others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0223 | 1 | 200 | 0.0050 | 27 | c.358 others(46): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1280459 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01517.hp2 HG03669.hp1 |
a0001 | a0001c0007a0001c0009 | a0001c0007t0002a0001c0009t0001 | a0001c0007t0002g0122 a0001c0009t0001g0032 |
2 | 42 | 0.0476 | 27 | c.454 others(44): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1332526 | G | GGAAGGAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0001 | a0001c0001t0001g0198 a0001c0005t0001g0005 a0001c0005t0001g0215 others(1): Show |
4 | 109 | 0.0367 | 27 | c.136 others(46): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146665788 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0004 | 1 | 36 | 0.0278 | 27 | c.98- others(46): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146712067 | A | AGTATACA others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03239.hp1 |
a0001a0005 | a0001c0003a0005c0007 | a0001c0003t0013a0005c0007t0017 | a0001c0003t0013g0010 a0005c0007t0017g0031 |
2 | 37 | 0.0541 | 27 | c.98- others(44): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146712283 | T | TGTATACA others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0002a0001c0008a0001c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0001others(2): Show | a0001c0002t0001g0007 a0001c0002t0002g0013 a0001c0008t0001g0025 others(2): Show |
5 | 33 | 0.1515 | 27 | c.98- others(44): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147919459 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0012 | 1 | 9 | 0.1111 | 27 | c.225 others(48): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41956387 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02486.hp2 HG03669.hp2 |
a0001a0006a0017 | a0001c0046a0006c0007a0017c0045 | a0001c0046t0016a0006c0007t0011a0017c0045t0002 | a0001c0046t0016g0015 a0006c0007t0011g0021 a0017c0045t0002g0019 |
3 | 75 | 0.0400 | 27 | c.187 others(46): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 12/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 41981892 | C | CAATAATA others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0016 | a0016c0017 | a0016c0017t0001 | a0016c0017t0001g0041 | 1 | 18 | 0.0556 | 27 | c.147 others(46): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | |||||||
CNTNAP3B_chr9_41885536_42134426 | 42133738 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0030 | 1 | 106 | 0.0094 | 27 | c.-46 others(38): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 4313 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0055 | 1 | 104 | 0.0096 | 27 | c.133 others(46): 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(20): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0004 | a0004c0027 | a0004c0027t0002 | a0004c0027t0002g0234 | 1 | 104 | 0.0096 | 27 | c.133 others(46): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76488457 | T | TCACAGAA others(20): Show |
intron_variant | MODIFIER | NA18981.hp1 NA18998.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0180 a0001c0001t0012g0117 a0001c0001t0012g0179 |
3 | 272 | 0.0110 | 27 | c.188 others(46): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124105046 | T | TAAGCATA others(20): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 61 | 0.0164 | 27 | c.82+ others(44): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124485631 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0002g0060 others(2): Show |
5 | 47 | 0.1064 | 27 | c.106 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(20): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02922.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0003g0006 a0001c0002t0001g0053 a0001c0002t0002g0030 others(3): Show |
6 | 12 | 0.5000 | 27 | c.175 others(46): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706795 | A | AAGAAGAA others(20): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0061 a0001c0002t0003g0004 |
2 | 47 | 0.0426 | 27 | c.207 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706880 | A | AAGAAGAG others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01069.hp2 others(35): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(35): Show |
38 | 62 | 0.6129 | 27 | c.207 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706894 | G | GAAGAAGG others(20): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02922.hp2 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0006 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0002t0001g0064 others(1): Show |
4 | 62 | 0.0645 | 27 | c.207 others(48): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43637425 | C | CAGGCCTA others(20): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 382 | 0.0026 | 27 | c.*21 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1831 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0146 |
2 | 92 | 0.0217 | 27 | c.-38 others(46): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691265 | A | AAAAGAAA others(20): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 310 | 0.0032 | 27 | c.-39 others(46): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164818716 | T | TGTATATG others(20): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0018 | a0018c0034 | a0018c0034t0032 | a0018c0034t0032g0030 | 1 | 210 | 0.0048 | 27 | c.41+ others(44): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01975.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0007a0001c0009a0001c0030others(7): Show | a0001c0007t0001a0001c0009t0001a0001c0009t0005others(8): Show | a0001c0007t0001g0106 a0001c0007t0001g0171 a0001c0007t0001g0176 others(11): Show |
14 | 97 | 0.1443 | 27 | c.958 others(46): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01257.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0139 a0002c0002t0002g0099 |
2 | 117 | 0.0171 | 27 | c.629 others(44): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730773 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 32 | 0.0313 | 27 | c.182 others(46): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208158 | C | CTCTCTCT others(20): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0065 | 1 | 185 | 0.0054 | 27 | c.-24 others(38): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2106 | chr6 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0170 | 1 | 235 | 0.0043 | 27 | c.185 others(44): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 104 | 0.0096 | 27 | c.365 others(44): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02602.hp2 NA18975.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0137 a0002c0002t0002g0006 a0002c0002t0002g0048 |
3 | 201 | 0.0149 | 27 | c.-35 others(38): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405340 | G | GGGGTCGC others(20): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18964.hp1 NA18964.hp2 others(4): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0015t0001others(3): Show | a0001c0001t0001g0170 a0001c0002t0002g0171 a0001c0015t0001g0172 others(4): Show |
7 | 289 | 0.0242 | 27 | c.12- others(38): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921395 | C | CATATATA others(20): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0071 | 1 | 146 | 0.0068 | 27 | c.267 others(44): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663036 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0155 | 1 | 155 | 0.0065 | 27 | c.318 others(44): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547871 | C | CCCCATAC others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0139 | 1 | 231 | 0.0043 | 27 | c.361 others(46): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178562736 | T | TGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0157 | 1 | 170 | 0.0059 | 27 | c.295 others(44): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG03927.hp2 others(1): Show |
a0002a0013 | a0002c0027a0002c0056a0013c0018 | a0002c0027t0008a0002c0056t0001a0013c0018t0004 | a0002c0027t0008g0064 a0002c0056t0001g0089 a0013c0018t0004g0062 others(1): Show |
4 | 33 | 0.1212 | 27 | c.277 others(44): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 102 | 0.0098 | 27 | c.386 others(46): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188972936 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0265 | 1 | 46 | 0.0217 | 27 | c.-15 others(38): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1436 | chr2 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110355657 | T | TGTACTAG others(20): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0018 | a0003c0018t0004 | a0003c0018t0004g0310 | 1 | 370 | 0.0027 | 27 | c.100 others(44): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 56 | 0.0179 | 27 | c.546 others(42): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 |
a0010 | a0010c0012a0010c0021 | a0010c0012t0001a0010c0021t0003 | a0010c0012t0001g0112 a0010c0021t0003g0320 |
2 | 57 | 0.0351 | 27 | c.546 others(42): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0007 | a0007c0006 | a0007c0006t0005 | a0007c0006t0005g0122 | 1 | 56 | 0.0179 | 27 | c.546 others(42): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249231 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0042 | a0001c0042t0015 | a0001c0042t0015g0335 | 1 | 339 | 0.0029 | 27 | c.546 others(42): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | chr2 | TogoVar |