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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK2B_chr7_44212154_44330594 | 44227775 | C | CTGGGGGA others(11): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0003 | a0001c0002t0001g0033 a0001c0004t0003g0075 |
2 | 132 | 0.0152 | 18 | c.146 others(37): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44313518 | C | CCAGACGT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0104 a0001c0004t0001g0105 |
2 | 240 | 0.0083 | 18 | c.65+ others(35): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113526414 | A | ATATGTGT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0021a0001c0001t0037a0001c0005t0004 | a0001c0001t0021g0007 a0001c0001t0021g0008 a0001c0001t0037g0004 others(1): Show |
4 | 14 | 0.2857 | 18 | c.601 others(35): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113603773 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0050a0001c0001t0069 | a0001c0001t0004g0033 a0001c0001t0050g0155 a0001c0001t0069g0259 |
3 | 65 | 0.0462 | 18 | c.275 others(35): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 4/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113663590 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0053 a0001c0003t0005g0116 a0001c0003t0005g0118 others(1): Show |
4 | 178 | 0.0225 | 18 | c.161 others(35): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113673994 | G | GTATTTTA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp1 others(116): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0052 a0001c0001t0001g0071 others(115): Show |
119 | 276 | 0.4312 | 18 | c.161 others(37): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK2D_chr4_113446032_113766738 | 113709746 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0004g0164 a0001c0001t0005g0156 a0001c0001t0010g0174 others(1): Show |
4 | 56 | 0.0714 | 18 | c.161 others(37): Show |
CAMK2D | ENSG00000145349.20 | transcript | ENST00000511664.6 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
CAMK2G_chr10_73807501_73879555 | 73812076 | G | GTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 69 | 0.0145 | 18 | c.*24 others(29): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 424 | chr10 | TogoVar | |||||||
CAMK2G_chr10_73807501_73879555 | 73829700 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0262 a0001c0001t0005g0270 |
2 | 178 | 0.0112 | 18 | c.105 others(37): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 14/22 | chr10 | TogoVar | |||||||
CAMK2G_chr10_73807501_73879555 | 73850799 | A | ATAGGACA others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 278 | 0.0036 | 18 | c.341 others(35): Show |
CAMK2G | ENSG00000148660.22 | transcript | ENST00000423381.6 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
CAMK4_chr5_111219384_111499886 | 111302363 | A | AGTGGGCG others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 244 | 0.0041 | 18 | c.162 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111406194 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0192 | 1 | 11 | 0.0909 | 18 | c.459 others(37): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK4_chr5_111219384_111499886 | 111480249 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(7): Show | a0001c0001t0002g0194 a0001c0001t0007g0008 a0001c0001t0012g0165 others(7): Show |
10 | 59 | 0.1695 | 18 | c.828 others(35): Show |
CAMK4 | ENSG00000152495.11 | transcript | ENST00000282356.9 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121268083 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0011others(2): Show | a0001c0001t0002a0001c0007t0001a0001c0011t0006others(2): Show | a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 others(5): Show |
8 | 153 | 0.0523 | 18 | c.625 others(33): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 5/16 | chr12 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44497709 | A | AAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03831.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0088 others(1): Show |
4 | 44 | 0.0909 | 18 | c.376 others(39): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44503984 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 a0001c0001t0002g0114 |
2 | 56 | 0.0357 | 18 | c.376 others(39): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44614936 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0164 |
2 | 42 | 0.0476 | 18 | c.377 others(37): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44621271 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 others(7): Show |
10 | 197 | 0.0508 | 18 | c.377 others(37): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135808711 | G | GGTGCACG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0290 | 1 | 338 | 0.0030 | 18 | c.*25 others(29): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 17/17 | 2597 | chr9 | TogoVar | ||||||
CAMSAP1_chr9_135803487_135912546 | 135892848 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0021others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(19): Show |
22 | 102 | 0.2157 | 18 | c.161 others(35): Show |
CAMSAP1 | ENSG00000130559.19 | transcript | ENST00000389532.9 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200814131 | C | CGGGGGGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(67): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0002g0185 others(67): Show |
70 | 260 | 0.2692 | 18 | c.562 others(35): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200827676 | T | TATATTAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(168): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0185 a0001c0001t0003g0034 a0001c0001t0003g0035 others(168): Show |
171 | 364 | 0.4698 | 18 | c.646 others(35): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP3_chr19_7590863_7623304 | 7605147 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00597.hp1 others(37): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0043 others(32): Show |
40 | 129 | 0.3101 | 18 | c.149 others(31): Show |
CAMSAP3 | ENSG00000076826.10 | transcript | ENST00000160298.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6827508 | A | ATTATGTG others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0009 a0001c0002t0003g0007 others(1): Show |
4 | 58 | 0.0690 | 18 | c.234 others(35): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
CAMTA1_chr1_6780454_7774706 | 7221922 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0008 | a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0003t0008g0032 |
3 | 55 | 0.0545 | 18 | c.303 others(37): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7276303 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 13 | 0.0769 | 18 | c.438 others(37): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7335124 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0002g0002 a0001c0001t0005g0038 a0001c0001t0008g0003 others(7): Show |
10 | 26 | 0.3846 | 18 | c.438 others(37): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7688011 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0028 | 1 | 35 | 0.0286 | 18 | c.291 others(39): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12812221 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03710.hp2 NA18967.hp1 others(3): Show |
a0008a0013a0018others(1): Show | a0008c0008a0013c0014a0018c0021others(1): Show | a0008c0008t0001a0008c0008t0003a0013c0014t0001others(2): Show | a0008c0008t0001g0012 a0008c0008t0003g0011 a0008c0008t0003g0037 others(3): Show |
6 | 182 | 0.0330 | 18 | c.758 others(33): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAND2_chr3_12791680_12839803 | 12825650 | G | GAGCTGGG others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18963.hp1 NA18983.hp1 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0170 a0005c0004t0001g0250 a0005c0004t0001g0297 |
3 | 376 | 0.0080 | 18 | c.321 others(33): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CANX_chr5_179693967_179736641 | 179710707 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0097 others(40): Show |
56 | 161 | 0.3478 | 18 | c.721 others(33): Show |
CANX | ENSG00000127022.16 | transcript | ENST00000247461.9 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40049178 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 a0001c0001t0003g0219 |
2 | 60 | 0.0333 | 18 | c.-11 others(35): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP1_chr1_40035729_40077648 | 40062773 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG01978.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0015 | a0001c0001t0004g0137 a0001c0001t0004g0139 a0001c0001t0004g0143 others(9): Show |
13 | 32 | 0.4063 | 18 | c.294 others(33): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17406398 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02027.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0019 others(16): Show |
19 | 166 | 0.1145 | 18 | c.-2+ others(35): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18990.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0143 a0001c0001t0002g0031 a0001c0001t0002g0150 others(1): Show |
4 | 44 | 0.0909 | 18 | c.223 others(33): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01516.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0103 others(11): Show |
14 | 30 | 0.4667 | 18 | c.301 others(35): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182042 | C | CACACTCA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show |
45 | 432 | 0.1042 | 18 | c.193 others(35): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735639 | G | GGTAGGGA others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp1 HG02055.hp2 others(19): Show |
a0001a0004a0020 | a0001c0001a0001c0025a0004c0008others(1): Show | a0001c0001t0005a0001c0025t0005a0004c0008t0005others(1): Show | a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 others(19): Show |
22 | 336 | 0.0655 | 18 | c.158 others(33): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736008 | A | AGGTCTCG others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01975.hp2 HG03017.hp1 others(6): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0005a0010c0018others(1): Show | a0001c0001t0001a0001c0001t0005a0003c0005t0004others(2): Show | a0001c0001t0001g0217 a0001c0001t0005g0278 a0001c0001t0005g0280 others(6): Show |
9 | 109 | 0.0826 | 18 | c.158 others(34): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736842 | T | TCTGTCCC others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG02896.hp2 others(2): Show |
a0006 | a0006c0009a0006c0028 | a0006c0009t0003a0006c0028t0003 | a0006c0009t0003g0012 a0006c0009t0003g0252 a0006c0028t0003g0296 |
5 | 339 | 0.0147 | 18 | c.136 others(35): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19081.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0002 | a0001c0001t0002g0119 a0003c0004t0002g0035 |
2 | 89 | 0.0225 | 18 | c.-33 others(35): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31179060 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0265 | 1 | 83 | 0.0120 | 18 | c.171 others(35): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19086.hp2 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0020a0006c0007t0008 | a0002c0002t0020g0271 a0006c0007t0008g0254 |
2 | 156 | 0.0128 | 18 | c.128 others(35): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544076 | C | CGGCGGCT others(11): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0329 | 1 | 408 | 0.0025 | 18 | c.-22 others(35): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544874 | T | TCACGTCG others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01069.hp1 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(4): Show | a0001c0001t0001g0239 a0001c0001t0003g0207 a0001c0002t0003g0240 others(5): Show |
10 | 357 | 0.0280 | 18 | c.-22 others(35): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223719831 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0340 | 1 | 353 | 0.0028 | 18 | c.307 others(35): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18612.hp2 NA18954.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0209 a0001c0001t0001g0260 a0004c0007t0001g0212 |
3 | 261 | 0.0115 | 18 | c.310 others(35): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG02055.hp1 others(7): Show |
a0001a0007a0012 | a0001c0001a0007c0022a0012c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0174 a0001c0001t0002g0104 a0001c0001t0002g0105 others(7): Show |
10 | 96 | 0.1042 | 18 | c.-36 others(33): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77125614 | C | CTATATAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0019 | a0001c0019t0044 | a0001c0019t0044g0227 | 1 | 201 | 0.0050 | 18 | c.*17 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15255316 | C | CTCTTAGA others(11): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 374 | 0.0027 | 18 | c.*40 others(29): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 2401 | chr3 | TogoVar |