regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNRIP1_chr2_68288010_68324949 | 68306124 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02280.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0250a0001c0002t0001g0359a0001c0003t0001g0279 | 3 | 424 | 0.0071 | 17 | c.330 others(36): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNRIP1_chr2_68288010_68324949 | 68307380 | G | GGCCCAGG others(10): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 424 | 0.0024 | 17 | c.330 others(34): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246582419 | G | GCTCCCTG others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0160a0001c0001t0004g0157a0001c0001t0004g0158others(1): Show | 4 | 320 | 0.0125 | 17 | c.-51 others(34): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642132 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 320 | 0.0031 | 17 | c.937 others(30): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
CNTFR_chr9_34546433_34594724 | 34578162 | C | CGGGTGGG others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109a0001c0001t0001g0241a0001c0001t0002g0240 | 3 | 402 | 0.0075 | 17 | c.-1+ others(32): Show |
CNTFR | ENSG00000122756.15 | transcript | ENST00000378980.8 | protein_coding | 2/9 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17202646 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0068 | 1 | 218 | 0.0046 | 17 | c.450 others(36): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17312384 | A | AATATATA others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03225.hp2 |
a0002a0025 | a0002c0046a0025c0045 | a0002c0046t0007a0025c0045t0002 | a0002c0046t0007g0216a0025c0045t0002g0046 | 2 | 218 | 0.0092 | 17 | c.134 others(36): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17359717 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0178 | 1 | 218 | 0.0046 | 17 | c.188 others(36): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40813026 | T | TTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00673.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0177a0001c0001t0002g0100a0001c0001t0002g0110others(32): Show | 35 | 230 | 0.1522 | 17 | c.-76 others(36): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40822148 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0129a0001c0002t0003g0060 | 2 | 230 | 0.0087 | 17 | c.-76 others(36): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 41053428 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 230 | 0.0044 | 17 | c.298 others(38): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | chr12 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2238735 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0002 | a0001c0001t0002g0086a0001c0006t0002g0026 | 2 | 116 | 0.0172 | 17 | c.-14 others(40): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2294288 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03831.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0011 | a0001c0002t0002g0078a0001c0003t0011g0113 | 2 | 116 | 0.0172 | 17 | c.-14 others(38): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2520259 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 116 | 0.0086 | 17 | c.-88 others(36): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2611297 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0104 | 1 | 116 | 0.0086 | 17 | c.55+ others(34): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2834898 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0003t0002a0001c0004t0002others(1): Show | a0001c0001t0003g0058a0001c0003t0002g0061a0001c0003t0002g0107others(2): Show | 5 | 116 | 0.0431 | 17 | c.454 others(36): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2864740 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00738.hp2 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0033a0001c0001t0002g0028a0001c0001t0002g0030others(16): Show | 19 | 116 | 0.1638 | 17 | c.455 others(34): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2961231 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0004g0081a0001c0001t0005g0054a0001c0003t0001g0116others(5): Show | 8 | 116 | 0.0690 | 17 | c.135 others(38): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99342571 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0047 | 1 | 66 | 0.0152 | 17 | c.-71 others(36): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99637010 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 66 | 0.0152 | 17 | c.55+ others(34): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99947036 | T | TTCATAAA others(10): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0007 | 1 | 66 | 0.0152 | 17 | c.674 others(34): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 7/24 | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 100072990 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 66 | 0.0152 | 17 | c.143 others(36): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1114641 | G | GCCCTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0157 | 1 | 232 | 0.0043 | 17 | c.-83 others(36): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1280459 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00741.hp2 others(7): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0002t0001g0125a0001c0002t0002g0021a0001c0003t0001g0026others(7): Show | 10 | 232 | 0.0431 | 17 | c.454 others(34): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN6_chr3_1088024_1409217 | 1348157 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01167.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0002others(6): Show | a0001c0001t0001g0141a0001c0003t0001g0077a0001c0004t0002g0038others(12): Show | 15 | 232 | 0.0647 | 17 | c.136 others(36): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP1_chr17_42677531_42704993 | 42686469 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 364 | 0.0028 | 17 | c.900 others(32): Show |
CNTNAP1 | ENSG00000108797.12 | transcript | ENST00000264638.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146464187 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0026 | 1 | 40 | 0.0250 | 17 | c.98- others(36): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146760409 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 40 | 0.0250 | 17 | c.98- others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147080622 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0012a0001c0018 | a0001c0001t0012a0001c0012t0004a0001c0018t0002 | a0001c0001t0012g0034a0001c0012t0004g0026a0001c0018t0002g0012 | 3 | 40 | 0.0750 | 17 | c.551 others(36): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147237049 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0007 | a0003c0007t0017 | a0003c0007t0017g0031 | 1 | 40 | 0.0250 | 17 | c.134 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147272664 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0028 | 1 | 40 | 0.0250 | 17 | c.134 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147527015 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0017 | a0002c0017t0015 | a0002c0017t0015g0037 | 1 | 40 | 0.0250 | 17 | c.177 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147560168 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02897.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0001 | a0001c0001t0018g0001a0001c0002t0001g0008 | 2 | 40 | 0.0500 | 17 | c.177 others(36): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148135976 | G | GAAGGAAG others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 40 | 0.0250 | 17 | c.255 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76496085 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0021 | a0002c0021t0004 | a0002c0021t0004g0162 | 1 | 274 | 0.0037 | 17 | c.223 others(36): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 14/23 | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124057448 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 64 | 0.0156 | 17 | c.82+ others(34): 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(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0058 | 1 | 64 | 0.0156 | 17 | c.106 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124570556 | T | TTGTTGGT others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 64 | 0.0156 | 17 | c.175 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124570562 | G | GTTTCATT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01891.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0019a0001c0001t0002g0024a0001c0001t0003g0057others(6): Show | 9 | 64 | 0.1406 | 17 | c.175 others(36): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706795 | A | AAGAAGAA others(10): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0021 | 1 | 64 | 0.0156 | 17 | c.207 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124706797 | G | GAAGAAGA others(10): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0014 | 1 | 64 | 0.0156 | 17 | c.207 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124706872 | A | AGAAGAAG others(10): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 64 | 0.0156 | 17 | c.207 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124721514 | T | TAAATAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0057a0001c0001t0004g0052 | 2 | 64 | 0.0313 | 17 | c.207 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTRL_chr9_121069955_121182610 | 121092478 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(21): Show |
a0001a0022 | a0001c0001a0022c0028 | a0001c0001t0001a0022c0028t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0194others(19): Show | 24 | 330 | 0.0727 | 17 | c.348 others(34): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43691415 | G | GGAAGGAA others(10): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 384 | 0.0026 | 17 | c.-39 others(36): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43710367 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0366 | 1 | 384 | 0.0026 | 17 | c.-39 others(36): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43710375 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 384 | 0.0026 | 17 | c.-39 others(36): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234370410 | A | ACCTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02809.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0027 | 4 | 406 | 0.0099 | 17 | c.-30 others(28): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3045 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234370412 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01167.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0114others(10): Show | 14 | 406 | 0.0345 | 17 | c.-30 others(28): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377133 | T | TTTTTGTT others(10): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01993.hp2 HG02083.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0001g0096a0001c0001t0002g0003others(4): Show | 37 | 406 | 0.0911 | 17 | c.372 others(34): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |