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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABLES2_chr20_62383634_62412285 | 62398076 | G | GTGGTGGT others(32): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0145 | 1 | 389 | 0.0026 | 39 | c.363 others(56): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62406647 | G | GCCCAGGT others(32): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(159): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(26): Show | a0001c0001t0001g0204 a0001c0001t0003g0071 a0001c0001t0003g0072 others(80): Show |
162 | 398 | 0.4070 | 39 | c.362 others(54): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13240600 | G | GTGCGCAG others(32): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0073 | a0003c0073t0003 | a0003c0073t0003g0035 | 1 | 216 | 0.0046 | 39 | c.495 others(58): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 31/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13376551 | A | AATATATA others(32): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0094 | a0003c0094t0002 | a0003c0094t0002g0208 | 1 | 216 | 0.0046 | 39 | c.540 others(56): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874392 | C | CCTGTAGG others(32): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG03486.hp2 |
a0001 | a0001c0003a0001c0049 | a0001c0003t0034a0001c0049t0007 | a0001c0003t0034g0112 a0001c0049t0007g0111 |
2 | 234 | 0.0085 | 39 | c.-35 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3389 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874673 | G | GACTTCCT others(32): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02451.hp1 others(21): Show |
a0001a0002a0008 | a0001c0003a0001c0017a0001c0022others(6): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0007others(12): Show | a0001c0003t0005g0006 a0001c0003t0005g0109 a0001c0003t0005g0129 others(21): Show |
24 | 245 | 0.0980 | 39 | c.-32 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3108 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874687 | C | CCGAGCTG others(32): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0099 | 1 | 222 | 0.0045 | 39 | c.-32 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3094 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874726 | C | CCGAGCTG others(32): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0042 | a0001c0042t0005 | a0001c0042t0005g0239 | 1 | 220 | 0.0045 | 39 | c.-32 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3055 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874765 | A | ACGAGCTG others(32): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00673.hp1 others(21): Show |
a0001a0015a0016 | a0001c0005a0001c0009a0001c0015others(3): Show | a0001c0005t0004a0001c0009t0003a0001c0015t0002others(4): Show | a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 others(21): Show |
24 | 245 | 0.0980 | 39 | c.-31 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3016 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874843 | A | ACGAGCTG others(32): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02451.hp1 others(21): Show |
a0001a0002a0008 | a0001c0003a0001c0017a0001c0022others(6): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0007others(12): Show | a0001c0003t0005g0006 a0001c0003t0005g0109 a0001c0003t0005g0129 others(21): Show |
24 | 242 | 0.0992 | 39 | c.-30 others(50): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2938 | chr9 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185756 | G | GGCGTAGG others(32): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 305 | 0.0033 | 39 | c.300 others(56): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82060201 | T | TAATATAT others(32): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 45 | 0.0222 | 39 | c.879 others(54): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1908651 | C | CTCACGGA others(32): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG01891.hp2 others(10): Show |
a0001a0005a0010 | a0001c0001a0005c0035a0010c0032 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 others(10): Show |
13 | 237 | 0.0549 | 39 | c.487 others(54): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1908651 | C | CTCACGGA others(32): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(4): Show |
a0002 | a0002c0008a0002c0012a0002c0029 | a0002c0008t0002a0002c0008t0003a0002c0012t0001others(1): Show | a0002c0008t0002g0313 a0002c0008t0003g0021 a0002c0012t0001g0018 others(4): Show |
7 | 231 | 0.0303 | 39 | c.487 others(54): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1908726 | T | TGCGTCAC others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01069.hp1 others(65): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0098 others(65): Show |
68 | 296 | 0.2297 | 39 | c.487 others(54): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1908762 | G | GACAGCGT others(32): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18906.hp2 |
a0005a0018 | a0005c0051a0018c0050 | a0005c0051t0001a0018c0050t0017 | a0005c0051t0001g0281 a0018c0050t0017g0010 |
2 | 316 | 0.0063 | 39 | c.487 others(54): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18535660 | C | CTACTTGG others(32): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0191 a0001c0001t0011g0192 |
2 | 200 | 0.0100 | 39 | c.120 others(56): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18535660 | C | CTACTTGG others(32): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036 a0001c0001t0012g0038 |
2 | 300 | 0.0067 | 39 | c.104 others(56): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703761 | C | CTCGCTCT others(32): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0147 | 1 | 211 | 0.0047 | 39 | c.-11 others(50): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 10 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703763 | C | CGCTCTCT others(32): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0159 | 1 | 207 | 0.0048 | 39 | c.-11 others(50): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 12 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703777 | C | CTCTCTCT others(32): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0183 | 1 | 210 | 0.0048 | 39 | c.-12 others(50): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 26 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36706226 | C | CTCTTCTT others(32): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG02809.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0051others(1): Show | a0001c0001t0005g0110 a0001c0001t0005g0124 a0001c0001t0014g0084 others(2): Show |
5 | 48 | 0.1042 | 39 | c.-36 others(50): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2475 | chr22 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 53991045 | G | GCCCCCAG others(32): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 285 | 0.0035 | 39 | c.-18 others(50): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 591 | chr19 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 173 | 0.0058 | 39 | c.545 others(54): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53906078 | C | CCTTCTTC others(32): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 318 | 0.0031 | 39 | c.-34 others(50): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3199 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906081 | C | CCTTCTTC others(32): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 274 | 0.0036 | 39 | c.-34 others(50): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3196 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(32): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 124 | 0.0081 | 39 | c.-34 others(50): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG7_chr19_53904278_53948950 | 53906084 | C | CCTCCTCC others(32): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 124 | 0.0081 | 39 | c.-34 others(50): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 3193 | chr19 | TogoVar | |||||||
CACNG8_chr19_53957937_53995215 | 53991045 | G | GCCCCCAG others(32): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 277 | 0.0036 | 39 | c.*81 others(50): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 831 | chr19 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115284087 | A | ACTCTCTC others(32): Show |
intron_variant | MODIFIER | NA18993.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0120 a0001c0001t0004g0094 |
2 | 58 | 0.0345 | 39 | c.125 others(58): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM1_chr11_115164236_115509415 | 115490392 | A | ATTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0158 | 1 | 123 | 0.0081 | 39 | c.124 others(58): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85216322 | T | TATATATT others(32): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0096 | 1 | 143 | 0.0070 | 39 | c.61+ others(58): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85336939 | A | AAATATAT others(32): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0100 a0001c0001t0008g0101 |
2 | 102 | 0.0196 | 39 | c.61+ others(58): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85359666 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 37 | 0.0270 | 39 | c.62- others(58): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122315296 | T | TCTCTCTC others(32): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0114 | 1 | 108 | 0.0093 | 39 | c.*48 others(50): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3114 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122645514 | T | TTAAATAT others(32): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0066 others(2): Show |
5 | 117 | 0.0427 | 39 | c.787 others(58): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0221 | 1 | 33 | 0.0303 | 39 | c.912 others(56): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18972.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0026 | a0003c0002t0001g0175 a0003c0002t0026g0181 |
2 | 34 | 0.0588 | 39 | c.912 others(56): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0201 | 1 | 33 | 0.0303 | 39 | c.912 others(56): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187444952 | T | TCACCTCC others(32): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 342 | 0.0029 | 39 | c.-29 others(58): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
CALM2_chr2_47155084_47181511 | 47167814 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 62 | 0.0161 | 39 | c.34+ others(54): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 71847719 | G | GAAGAAAG others(32): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02735.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(2): Show | a0001c0001t0001g0065 a0001c0001t0002g0097 a0001c0001t0002g0100 others(3): Show |
6 | 97 | 0.0619 | 39 | c.502 others(58): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72016998 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 69 | 0.0145 | 39 | c.501 others(56): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 5/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72205551 | A | AAATATAT others(32): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 52 | 0.0192 | 39 | c.244 others(58): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12387445 | T | TTATATAT others(32): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02523.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0083a0001c0001t0092others(2): Show | a0001c0001t0002g0088 a0001c0001t0083g0061 a0001c0001t0092g0163 others(2): Show |
5 | 75 | 0.0667 | 39 | c.92+ others(56): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694197 | T | TTATATAT others(32): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0092a0001c0001t0113 | a0001c0001t0092g0163 a0001c0001t0113g0034 |
2 | 108 | 0.0185 | 39 | c.299 others(58): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK2A_chr5_150214491_150294773 | 150216823 | A | AACCCAGG others(32): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01099.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0005a0001c0001t0013a0001c0001t0015others(18): Show | a0001c0001t0005g0027 a0001c0001t0005g0048 a0001c0001t0005g0058 others(44): Show |
48 | 336 | 0.1429 | 39 | c.*58 others(50): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 2667 | chr5 | TogoVar | |||||||
CAMK2A_chr5_150214491_150294773 | 150216826 | C | CCAGGCCT others(32): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 NA19030.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0047 | a0001c0001t0032g0049 a0001c0001t0032g0268 a0001c0001t0047g0175 |
3 | 336 | 0.0089 | 39 | c.*58 others(50): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 2664 | chr5 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44227178 | G | GGGTGCAG others(32): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0098 | 1 | 238 | 0.0042 | 39 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3867970 | A | ATCTGGGG others(32): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0165 | 1 | 441 | 0.0023 | 39 | c.134 others(58): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar |