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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK1D_chr10_12344547_12840545 | 12694330 | G | GTATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(101): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0064others(101): Show | 104 | 214 | 0.4860 | 7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12694330 | G | GTATGTAT | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0098a0001c0002t0032others(1): Show | a0001c0001t0013g0155a0001c0001t0098g0037a0001c0002t0032g0008others(1): Show | 4 | 214 | 0.0187 | 7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12698673 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0016a0001c0001t0001g0064a0001c0001t0001g0071others(71): Show | 74 | 214 | 0.3458 | 7 | c.299 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12732674 | C | CCCCCCCG | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01261.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0064a0001c0001t0001g0133a0001c0001t0003g0004others(21): Show | 24 | 214 | 0.1122 | 7 | c.300 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12764381 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01071.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0082others(31): Show | 34 | 214 | 0.1589 | 7 | c.438 others(24): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12827612 | C | CCTCCTCT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00621.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0020a0001c0001t0026others(23): Show | a0001c0001t0019g0039a0001c0001t0019g0084a0001c0001t0019g0086others(41): Show | 44 | 214 | 0.2056 | 7 | c.104 others(26): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44221545 | C | CGCAGCAG | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0007a0001c0004t0007a0001c0006t0007 | a0001c0003t0007g0002a0001c0003t0007g0039a0001c0003t0007g0053others(7): Show | 11 | 242 | 0.0455 | 7 | c.159 others(24): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
CAMK2D_chr4_113446032_113766738 | 113581529 | A | AGAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(60): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0040a0001c0001t0001g0075a0001c0001t0001g0076others(60): Show | 63 | 278 | 0.2266 | 7 | c.275 others(26): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 4/20 | chr4 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111317898 | T | TAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp2 HG02027.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(4): Show | a0001c0001t0001g0177a0001c0001t0012g0070a0001c0001t0016g0156others(4): Show | 7 | 246 | 0.0285 | 7 | c.162 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111381938 | G | GTAAAGGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(234): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(181): Show | a0001c0001t0001g0013a0001c0001t0001g0113a0001c0001t0001g0130others(234): Show | 237 | 246 | 0.9634 | 7 | c.386 others(24): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111396631 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02040.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(14): Show | a0001c0001t0001g0130a0001c0001t0004g0151a0001c0001t0015g0074others(14): Show | 17 | 246 | 0.0691 | 7 | c.459 others(24): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111443339 | A | ATATATAG | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0170a0001c0001t0172a0001c0001t0173 | a0001c0001t0170g0235a0001c0001t0172g0233a0001c0001t0173g0042 | 3 | 246 | 0.0122 | 7 | c.460 others(24): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMK4_chr5_111219384_111499886 | 111461813 | T | TAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00738.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0113a0001c0001t0002g0126a0001c0001t0002g0224others(20): Show | 23 | 246 | 0.0935 | 7 | c.626 others(26): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121264968 | C | CAAAACAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(134): Show |
a0001a0002a0004others(3): Show | a0001c0013a0002c0002a0002c0004others(12): Show | a0001c0013t0001a0001c0013t0006a0002c0002t0001others(24): Show | a0001c0013t0001g0109a0001c0013t0006g0088a0001c0013t0006g0107others(133): Show | 137 | 330 | 0.4152 | 7 | c.626 others(24): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44589883 | T | TAAAAAAA | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp2 HG02559.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0087a0001c0001t0001g0088others(14): Show | 17 | 198 | 0.0859 | 7 | c.377 others(28): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01192.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0052a0001c0001t0001g0054others(18): Show | 21 | 198 | 0.1061 | 7 | c.377 others(26): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44708211 | A | ATTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01169.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0052a0001c0001t0001g0055others(37): Show | 40 | 198 | 0.2020 | 7 | c.556 others(22): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMKMT_chr2_44356947_44777592 | 44768362 | T | TATATATA | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0054a0001c0001t0001g0125 | 3 | 198 | 0.0152 | 7 | c.894 others(24): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 10/10 | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135851550 | A | AGGGAACC | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0008a0001c0030 | a0001c0008t0006a0001c0008t0013a0001c0008t0026others(1): Show | a0001c0008t0006g0292a0001c0008t0006g0293a0001c0008t0006g0295others(3): Show | 6 | 340 | 0.0177 | 7 | c.809 others(24): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 5/16 | chr9 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135868609 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01167.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0020 | a0001c0002t0003g0016a0001c0002t0003g0282a0001c0002t0003g0288others(8): Show | 11 | 340 | 0.0324 | 7 | c.586 others(24): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 3/16 | chr9 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200759168 | C | CAATTTGG | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(96): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0017a0001c0002t0002a0001c0002t0010others(8): Show | a0001c0001t0017g0111a0001c0002t0002g0030a0001c0002t0002g0092others(96): Show | 99 | 366 | 0.2705 | 7 | c.140 others(24): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMSAP2_chr1_200733893_200865704 | 200775537 | G | GTTTGTTT | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp2 HG02896.hp1 |
a0004 | a0004c0005a0004c0006 | a0004c0005t0014a0004c0006t0016 | a0004c0005t0014g0023a0004c0005t0014g0024a0004c0006t0016g0005 | 3 | 366 | 0.0082 | 7 | c.399 others(26): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6902084 | T | TAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02523.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0021a0001c0003t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0021g0014others(2): Show | 5 | 58 | 0.0862 | 7 | c.234 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6995295 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02132.hp1 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0024a0001c0001t0002g0009a0001c0001t0008g0003others(5): Show | 8 | 58 | 0.1379 | 7 | c.235 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7227937 | C | CCTGCCAA | intron_variant | MODIFIER | HG00558.hp1 HG03225.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0013 | a0001c0001t0003g0047a0001c0001t0005g0038a0001c0001t0013g0054 | 3 | 58 | 0.0517 | 7 | c.303 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7370914 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG02004.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0024others(23): Show | 26 | 58 | 0.4483 | 7 | c.439 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7680861 | C | CGCGCCAG | intron_variant | MODIFIER | HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0005 | a0001c0006t0001g0055a0001c0006t0005g0057 | 2 | 58 | 0.0345 | 7 | c.291 others(26): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12816051 | T | TCCAGAAC | intron_variant | MODIFIER | HG02630.hp1 HG03471.hp2 HG06807.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0365a0001c0007t0001g0366a0001c0007t0001g0367 | 3 | 378 | 0.0079 | 7 | c.144 others(22): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 78987377 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02015.hp2 HG02132.hp1 others(18): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0002others(2): Show | a0001c0002t0002g0013a0001c0002t0002g0029a0001c0002t0002g0038others(15): Show | 21 | 394 | 0.0533 | 7 | c.*61 others(18): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 4338 | chr17 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179701736 | C | CTTTTTTT | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0009a0001c0001t0001g0109a0001c0001t0001g0202others(9): Show | 13 | 380 | 0.0342 | 7 | c.-4+ others(22): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17440606 | C | CTGTGTGG | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01243.hp2 others(13): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0142a0001c0001t0001g0180a0001c0001t0001g0196others(13): Show | 16 | 206 | 0.0777 | 7 | c.222 others(26): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17496326 | A | AGTATCTT | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0009t0001g0012 | 3 | 206 | 0.0146 | 7 | c.301 others(26): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17529640 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0068others(7): Show | 10 | 206 | 0.0485 | 7 | c.637 others(24): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44172317 | T | TGGCTGCC | frameshift_variant | HIGH | HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show |
a0005a0018 | a0005c0006a0005c0010a0018c0021 | a0005c0006t0001a0005c0006t0002a0005c0006t0003others(3): Show | a0005c0006t0001g0209a0005c0006t0001g0387a0005c0006t0002g0210others(18): Show | 21 | 460 | 0.0457 | 7 | c.426 others(14): Show |
p.Ile others(5): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 5/23 | 462/2718 | 433/2220 | 145/739 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CAPN11_chr6_44153820_44189401 | 44178749 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG02109.hp1 HG02155.hp1 others(15): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0205a0001c0001t0001g0207others(13): Show | 18 | 460 | 0.0391 | 7 | c.141 others(24): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 12/22 | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182068 | C | CATACACA | intron_variant | MODIFIER | HG02015.hp1 HG02257.hp2 HG02280.hp1 others(4): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0001a0003c0003t0002a0007c0007t0001 | a0003c0003t0001g0108a0003c0003t0001g0270a0003c0003t0002g0006others(3): Show | 7 | 460 | 0.0152 | 7 | c.193 others(24): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38749045 | T | TAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00733.hp2 others(3): Show |
a0001a0003a0024 | a0001c0006a0003c0005a0024c0018 | a0001c0006t0004a0003c0005t0004a0024c0018t0004 | a0001c0006t0004g0025a0003c0005t0004g0024a0003c0005t0004g0029others(3): Show | 6 | 342 | 0.0175 | 7 | c.-48 others(18): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4572 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30749758 | C | CATGTGAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(190): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0020others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0049others(188): Show | 193 | 384 | 0.5026 | 7 | c.123 others(26): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 11/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAGAAAG | intron_variant | MODIFIER | HG02132.hp1 HG03098.hp2 NA19000.hp2 |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0016 | a0001c0001t0001a0002c0003t0001a0011c0016t0001 | a0001c0001t0001g0279a0002c0003t0001g0156a0011c0016t0001g0369 | 3 | 384 | 0.0078 | 7 | c.-33 others(24): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTCTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(4): Show | a0001c0002t0001g0007a0001c0002t0001g0009a0001c0002t0001g0014others(52): Show | 56 | 378 | 0.1482 | 7 | c.307 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01243.hp1 others(32): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0037others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0001g0006a0001c0002t0001g0084a0001c0002t0003g0001others(31): Show | 35 | 378 | 0.0926 | 7 | c.307 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230769666 | T | TATCTATC | intron_variant | MODIFIER | HG01081.hp2 HG01952.hp1 HG01993.hp1 others(14): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0017others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0002t0001g0167a0001c0003t0001g0045a0001c0003t0001g0282others(14): Show | 17 | 394 | 0.0432 | 7 | c.789 others(22): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230805074 | T | TGATATTA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(73): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(15): Show | a0001c0001t0001g0098a0001c0001t0001g0152a0001c0001t0001g0153others(72): Show | 76 | 394 | 0.1929 | 7 | c.*34 others(18): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3086 | chr1 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36154856 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(189): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(100): Show | 192 | 480 | 0.4000 | 7 | c.*50 others(18): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 4504 | chr19 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | ATATATAT | upstream_gene_variant | MODIFIER | NA18988.hp2 NA19000.hp1 NA19082.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0007a0003c0003t0001g0155 | 3 | 378 | 0.0079 | 7 | c.-32 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAAAATAT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01261.hp2 others(4): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0003a0006c0010t0001 | a0002c0002t0003g0008a0002c0002t0003g0216a0002c0002t0003g0221others(1): Show | 7 | 378 | 0.0185 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | AAATATAT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0002c0002t0001a0002c0006t0001 | a0001c0001t0001g0083a0002c0002t0001g0004a0002c0002t0001g0009others(13): Show | 22 | 378 | 0.0582 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
CAPRIN2_chr12_30704553_30759951 | 30758010 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18950.hp2 NA18991.hp1 others(2): Show |
a0002a0003 | a0002c0002a0002c0011a0003c0003 | a0002c0002t0001a0002c0011t0001a0003c0003t0001 | a0002c0002t0001g0016a0002c0002t0001g0204a0002c0011t0001g0194others(2): Show | 5 | 378 | 0.0132 | 7 | c.-33 others(18): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3060 | chr12 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75315907 | T | TTGCTTCA | intron_variant | MODIFIER | HG01243.hp1 HG02056.hp2 HG02622.hp2 others(4): Show |
a0001a0004 | a0001c0003a0004c0006 | a0001c0003t0002a0001c0003t0014a0001c0003t0031others(2): Show | a0001c0003t0002g0046a0001c0003t0002g0047a0001c0003t0014g0045others(4): Show | 7 | 370 | 0.0189 | 7 | c.477 others(22): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00621.hp1 others(26): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0072others(17): Show | 29 | 402 | 0.0721 | 7 | c.137 others(24): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar |