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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1E_chr1_181478517_181813084 | 181523129 | CCTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0016others(16): Show | a0001c0001t0006g0042 a0001c0001t0007g0188 a0001c0001t0016g0133 others(21): Show |
24 | 206 | 0.1165 | -3 | c.512 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181569424 | TTCC | T | intron_variant | MODIFIER | HG02895.hp2 HG03195.hp1 HG03195.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0011a0001c0001t0048a0001c0001t0064others(1): Show | a0001c0001t0011g0038 a0001c0001t0048g0054 a0001c0001t0064g0013 others(1): Show |
4 | 206 | 0.0194 | -3 | c.513 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181590415 | AAAT | A | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01258.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0009a0001c0001t0012a0001c0001t0048others(14): Show | a0001c0001t0009g0135 a0001c0001t0012g0100 a0001c0001t0048g0054 others(16): Show |
19 | 206 | 0.0922 | -3 | c.951 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181625047 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(62): Show | a0001c0001t0001g0166 a0001c0001t0003g0044 a0001c0001t0003g0130 others(110): Show |
113 | 206 | 0.5485 | -3 | c.952 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181641703 | GTTT | G | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00735.hp1 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(31): Show | a0001c0001t0002g0001 a0001c0001t0004g0146 a0001c0001t0006g0131 others(49): Show |
52 | 206 | 0.2524 | -3 | c.952 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181654982 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01069.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(17): Show | a0001c0001t0002g0001 a0001c0001t0002g0195 a0001c0001t0010g0028 others(22): Show |
25 | 206 | 0.1214 | -3 | c.105 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181680105 | CAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG01109.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0011others(12): Show | a0001c0001t0002g0195 a0001c0001t0009g0132 a0001c0001t0011g0038 others(12): Show |
15 | 206 | 0.0728 | -3 | c.105 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181693128 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01099.hp2 others(20): Show |
a0001a0008a0009 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0011a0001c0001t0016a0001c0001t0033others(14): Show | a0001c0001t0011g0038 a0001c0001t0016g0181 a0001c0001t0033g0088 others(20): Show |
23 | 206 | 0.1117 | -3 | c.105 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181760096 | GCAC | G | intron_variant | MODIFIER | HG02976.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0026 | a0001c0001t0002a0001c0026t0042 | a0001c0001t0002g0126 a0001c0026t0042g0025 |
2 | 206 | 0.0097 | -3 | c.460 others(22): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 32/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181783478 | TACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00735.hp1 others(8): Show |
a0001a0003a0009 | a0001c0004a0001c0022a0003c0010others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0045others(4): Show | a0001c0004t0001g0186 a0001c0004t0002g0071 a0001c0004t0002g0101 others(8): Show |
11 | 206 | 0.0534 | -3 | c.536 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 39/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1F_chrX_49200063_49238340 | 49209740 | GCCC | G | disruptive_inframe_deletion | MODERATE | NA18946.hp1 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0127 | 1 | 290 | 0.0035 | -3 | c.470 others(12): Show |
p.Gly others(7): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 41/48 | 4740/6006 | 4707/5901 | 1569/1966 | chrX | TogoVar | |||
CACNA1F_chrX_49200063_49238340 | 49220073 | CTCT | C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0139 |
3 | 290 | 0.0103 | -3 | c.238 others(20): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 19/47 | chrX | TogoVar | |||||||
CACNA1F_chrX_49200063_49238340 | 49223595 | CAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0037 | 2 | 290 | 0.0069 | -3 | c.187 others(20): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 14/47 | chrX | TogoVar | |||||||
CACNA1F_chrX_49200063_49238340 | 49233893 | GGGT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0006a0001c0017others(8): Show | a0001c0002t0001a0001c0006t0001a0001c0017t0001others(8): Show | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0008 others(70): Show |
119 | 290 | 0.4103 | -3 | c.-58 others(12): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 554 | chrX | TogoVar | |||||||
CACNA1F_chrX_49200063_49238340 | 49236113 | CGGG | C | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 1 | 290 | 0.0035 | -3 | c.-28 others(14): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 2774 | chrX | TogoVar | |||||||
CACNA1G_chr17_50555715_50632474 | 50608562 | TAAA | T | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG02273.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0007 a0001c0001t0001g0210 a0001c0006t0001g0178 |
3 | 246 | 0.0122 | -3 | c.470 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50623263 | ATTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(64): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(63): Show |
67 | 246 | 0.2724 | -3 | c.606 others(20): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1172629 | TTTA | T | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 NA20129.hp2 |
a0002a0008a0017 | a0002c0058a0008c0023a0017c0066 | a0002c0058t0023a0008c0023t0003a0017c0066t0025 | a0002c0058t0023g0027 a0008c0023t0003g0045 a0017c0066t0025g0232 |
3 | 338 | 0.0089 | -3 | c.299 others(22): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1199634 | TCTC | T | intron_variant | MODIFIER | HG02280.hp2 HG03209.hp1 HG03225.hp2 others(1): Show |
a0008a0017a0029 | a0008c0056a0017c0064a0017c0066others(1): Show | a0008c0056t0038a0017c0064t0032a0017c0066t0025others(1): Show | a0008c0056t0038g0224 a0017c0064t0032g0276 a0017c0066t0025g0232 others(1): Show |
4 | 338 | 0.0118 | -3 | c.804 others(18): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39565930 | ATGG | A | upstream_gene_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG02970.hp1 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0007others(2): Show | a0001c0001t0004a0002c0003t0001a0005c0007t0006others(4): Show | a0001c0001t0004g0107 a0002c0003t0001g0106 a0005c0007t0006g0112 others(4): Show |
7 | 236 | 0.0297 | -3 | c.-48 others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 4822 | chr22 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39576944 | GCTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01071.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0018others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0038others(8): Show | a0001c0001t0002g0123 a0001c0001t0002g0162 a0001c0001t0003g0122 others(13): Show |
16 | 236 | 0.0678 | -3 | c.236 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39579012 | GCCT | G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0030a0002c0013others(3): Show | a0001c0001t0005a0001c0001t0008a0001c0030t0004others(4): Show | a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0125 others(10): Show |
13 | 236 | 0.0551 | -3 | c.236 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39585699 | TAAA | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
a0001a0003 | a0001c0009a0001c0022a0001c0026others(2): Show | a0001c0009t0007a0001c0022t0010a0001c0026t0051others(3): Show | a0001c0009t0007g0135 a0001c0022t0010g0004 a0001c0026t0051g0169 others(4): Show |
7 | 236 | 0.0297 | -3 | c.237 others(22): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596428 | TGGG | T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0030a0002c0013others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0030t0004others(3): Show | a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 others(8): Show |
11 | 236 | 0.0466 | -3 | c.237 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39596497 | TGGG | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0003a0001c0001t0050a0001c0002t0002others(16): Show | a0001c0001t0003g0152 a0001c0001t0050g0153 a0001c0002t0002g0189 others(36): Show |
39 | 236 | 0.1653 | -3 | c.237 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39599618 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01109.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0026others(11): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0002others(14): Show | a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0005g0119 others(22): Show |
25 | 236 | 0.1059 | -3 | c.349 others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39608116 | CAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01169.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0030others(5): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0036others(11): Show | a0001c0001t0005g0050 a0001c0001t0005g0118 a0001c0001t0008g0008 others(17): Show |
20 | 236 | 0.0848 | -3 | c.482 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39616764 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01109.hp2 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0014a0001c0020others(7): Show | a0001c0001t0057a0001c0014t0012a0001c0020t0001others(10): Show | a0001c0001t0057g0067 a0001c0014t0012g0126 a0001c0020t0001g0176 others(11): Show |
14 | 236 | 0.0593 | -3 | c.483 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39647162 | CGGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(141): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0009others(28): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0002g0060 a0001c0001t0002g0117 a0001c0001t0002g0123 others(141): Show |
144 | 236 | 0.6102 | -3 | c.146 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39668204 | CAGA | C | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0014 | a0001c0009a0002c0031a0014c0033 | a0001c0009t0002a0001c0009t0003a0001c0009t0004others(3): Show | a0001c0009t0002g0009 a0001c0009t0003g0103 a0001c0009t0004g0132 others(6): Show |
9 | 236 | 0.0381 | -3 | c.410 others(18): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39690722 | CAAG | C | downstream_gene_variant | MODIFIER | HG01071.hp2 HG01496.hp1 |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0002a0006c0015t0002 | a0001c0001t0002g0162 a0006c0015t0002g0188 |
2 | 236 | 0.0085 | -3 | c.*43 others(14): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 988 | chr22 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201046171 | TTTA | T | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp2 HG02896.hp1 others(6): Show |
a0005a0009a0014others(1): Show | a0005c0022a0005c0046a0005c0052others(4): Show | a0005c0022t0001a0005c0046t0001a0005c0052t0001others(4): Show | a0005c0022t0001g0260 a0005c0046t0001g0255 a0005c0052t0001g0185 others(6): Show |
9 | 314 | 0.0287 | -3 | c.466 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 38/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG03225.hp1 others(4): Show |
a0002a0005a0007others(3): Show | a0002c0023a0005c0094a0007c0081others(3): Show | a0002c0023t0001a0002c0023t0002a0005c0094t0001others(4): Show | a0002c0023t0001g0227 a0002c0023t0002g0300 a0005c0094t0001g0263 others(4): Show |
7 | 314 | 0.0223 | -3 | c.255 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201073348 | TCTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0003others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(70): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(223): Show |
232 | 314 | 0.7389 | -3 | c.215 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 15/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201078517 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(168): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(48): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(165): Show |
171 | 314 | 0.5446 | -3 | c.139 others(20): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201111918 | TTCC | T | intron_variant | MODIFIER | HG02071.hp2 HG02965.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0004t0001g0040 |
3 | 314 | 0.0096 | -3 | c.152 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 1/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81944432 | ATAC | A | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 a0001c0001t0008g0083 |
2 | 144 | 0.0139 | -3 | c.*59 others(14): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2011 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81954949 | GGTA | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01167.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0004g0002 a0001c0001t0004g0021 a0001c0001t0004g0022 others(31): Show |
34 | 144 | 0.2361 | -3 | c.315 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82004420 | CATT | C | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021 | a0001c0001t0006g0138 a0001c0001t0021g0113 |
2 | 144 | 0.0139 | -3 | c.159 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82007063 | AAAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0003 | a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0061 others(3): Show |
6 | 144 | 0.0417 | -3 | c.144 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 16/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82016607 | CCCG | C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0002g0140 others(23): Show |
26 | 144 | 0.1806 | -3 | c.114 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 12/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82040452 | CAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00735.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0058 a0001c0001t0001g0070 a0001c0001t0002g0143 others(48): Show |
51 | 144 | 0.3542 | -3 | c.880 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060182 | TATA | T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0006a0001c0004t0008a0001c0006t0013 | a0001c0004t0006g0104 a0001c0004t0008g0024 a0001c0006t0013g0069 |
3 | 144 | 0.0208 | -3 | c.879 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82060637 | AAAT | A | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0023 a0001c0001t0008g0083 a0001c0001t0011g0028 |
3 | 144 | 0.0208 | -3 | c.780 others(18): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 9/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82062729 | CTTT | C | intron_variant | MODIFIER | HG01433.hp1 HG01975.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0077 a0001c0001t0002g0133 a0001c0001t0008g0023 others(3): Show |
6 | 144 | 0.0417 | -3 | c.779 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 9/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82092540 | CTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01192.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0049 a0001c0001t0003g0086 others(12): Show |
15 | 144 | 0.1042 | -3 | c.527 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82099108 | TTTC | T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01069.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 others(43): Show |
46 | 144 | 0.3194 | -3 | c.527 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82100489 | TTTG | T | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0049 a0001c0001t0003g0086 a0001c0001t0009g0065 |
3 | 144 | 0.0208 | -3 | c.527 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82103968 | CCAT | C | intron_variant | MODIFIER | HG02895.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0012 a0001c0001t0012g0127 |
2 | 144 | 0.0139 | -3 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82111441 | TATA | T | intron_variant | MODIFIER | HG02559.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0020 a0001c0001t0008g0073 |
2 | 144 | 0.0139 | -3 | c.526 others(20): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar |