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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1D_chr3_53489611_53818733 | 53730245 | CTTTTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0021others(10): Show | a0001c0001t0002g0091a0001c0001t0004g0137a0001c0001t0004g0160others(19): Show | 22 | 210 | 0.1048 | -5 | c.228 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 16/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53816840 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0005a0001c0002t0025a0001c0002t0082others(4): Show | a0001c0002t0005g0071a0001c0002t0005g0097a0001c0002t0005g0098others(11): Show | 14 | 210 | 0.0667 | -5 | c.*54 others(16): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3108 | chr3 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181527883 | CTTTAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01358.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0003g0130a0001c0001t0005g0086a0001c0001t0006g0050others(22): Show | 25 | 206 | 0.1214 | -5 | c.512 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181625047 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01071.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0024others(27): Show | a0001c0001t0002g0126a0001c0001t0002g0195a0001c0001t0006g0131others(37): Show | 40 | 206 | 0.1942 | -5 | c.952 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181691218 | ATTTAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0024a0002c0002t0010others(6): Show | a0001c0001t0002g0195a0001c0001t0024g0112a0002c0002t0010g0024others(6): Show | 9 | 206 | 0.0437 | -5 | c.105 others(26): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181743289 | CTCTTT | C | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0032a0001c0004t0008g0122 | 2 | 206 | 0.0097 | -5 | c.371 others(24): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 25/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1E_chr1_181478517_181813084 | 181783787 | AAGCTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(162): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(98): Show | a0001c0001t0002g0001a0001c0001t0002g0126a0001c0001t0002g0195others(162): Show | 165 | 206 | 0.8010 | -5 | c.547 others(20): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 40/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50623263 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01243.hp2 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0009a0002c0014a0002c0032others(5): Show | a0002c0009t0001a0002c0009t0002a0002c0014t0002others(6): Show | a0002c0009t0001g0116a0002c0009t0002g0080a0002c0009t0002g0085others(12): Show | 15 | 246 | 0.0610 | -5 | c.606 others(22): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1179730 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01261.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0007others(11): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0018others(13): Show | a0001c0001t0002g0127a0002c0002t0001g0209a0002c0002t0018g0069others(13): Show | 16 | 338 | 0.0473 | -5 | c.300 others(24): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1207234 | GGGGCT | G | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02647.hp2 others(3): Show |
a0002a0010a0060 | a0002c0063a0010c0024a0010c0062others(2): Show | a0002c0063t0001a0010c0024t0001a0010c0024t0002others(3): Show | a0002c0063t0001g0287a0010c0024t0001g0300a0010c0024t0002g0334others(3): Show | 6 | 338 | 0.0178 | -5 | c.290 others(20): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39568093 | CCTTTA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0117a0001c0001t0002g0123a0001c0001t0002g0145others(57): Show | 60 | 236 | 0.2542 | -5 | c.-26 others(16): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2659 | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39595316 | AAAAAT | A | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02809.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0030a0006c0012 | a0001c0001t0005a0001c0030t0004a0006c0012t0005 | a0001c0001t0005g0118a0001c0001t0005g0119a0001c0030t0004g0138others(1): Show | 4 | 236 | 0.0170 | -5 | 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 | 39599618 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(93): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0009others(26): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0002g0123a0001c0001t0003g0041a0001c0001t0003g0152others(93): Show | 96 | 236 | 0.4068 | -5 | c.349 others(20): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201068231 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01123.hp1 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(7): Show | a0001c0001t0001g0282a0001c0004t0001g0040a0001c0009t0001g0053others(12): Show | 16 | 314 | 0.0510 | -5 | c.255 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 19/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201078517 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01123.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0013a0001c0014others(6): Show | a0001c0004t0001a0001c0013t0001a0001c0014t0001others(6): Show | a0001c0004t0001g0029a0001c0004t0001g0071a0001c0004t0001g0157others(11): Show | 15 | 314 | 0.0478 | -5 | c.139 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201103989 | GGCCCT | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(31): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0009others(19): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0001others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0079others(29): Show | 34 | 314 | 0.1083 | -5 | c.258 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 2/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81955905 | TGGGGG | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(55): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0003a0001c0001t0003g0005a0001c0001t0003g0007others(55): Show | 58 | 144 | 0.4028 | -5 | c.315 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82002021 | CAAAAA | C | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0002g0094a0001c0001t0002g0133others(2): Show | 5 | 144 | 0.0347 | -5 | c.159 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82048146 | ACAGCT | A | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0077others(21): Show | 24 | 144 | 0.1667 | -5 | c.880 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82053404 | TTAAAA | T | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0049a0001c0001t0001g0077others(17): Show | 20 | 144 | 0.1389 | -5 | c.879 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82062729 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0021a0001c0001t0004g0022a0001c0001t0004g0074others(2): Show | 5 | 144 | 0.0347 | -5 | c.779 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 9/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82114127 | CAAATT | C | intron_variant | MODIFIER | HG01433.hp1 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0003g0076others(2): Show | 5 | 144 | 0.0347 | -5 | c.526 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82138425 | AGTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0093a0001c0001t0007g0081 | 2 | 144 | 0.0139 | -5 | c.355 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82146983 | CAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0049a0001c0001t0001g0087a0001c0001t0002g0129others(2): Show | 5 | 144 | 0.0347 | -5 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82158196 | TTATAA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0005g0105a0001c0001t0005g0106a0001c0001t0007g0015others(3): Show | 6 | 144 | 0.0417 | -5 | c.354 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82164816 | TTTTTC | T | intron_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01192.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0047a0001c0001t0001g0058a0001c0001t0002g0103others(22): Show | 25 | 144 | 0.1736 | -5 | c.354 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82181041 | ATTTTT | A | intron_variant | MODIFIER | HG01123.hp2 HG02922.hp2 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0047a0001c0001t0003g0088a0001c0001t0004g0021others(3): Show | 6 | 144 | 0.0417 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82222723 | ATCTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0004g0002others(5): Show | 8 | 144 | 0.0556 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82229686 | TTTTTA | T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0004g0002others(5): Show | 8 | 144 | 0.0556 | -5 | c.295 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82322125 | CAAAAA | C | intron_variant | MODIFIER | HG01169.hp2 HG02630.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002 | a0001c0001t0001g0058a0001c0001t0012g0127a0001c0002t0002g0108others(2): Show | 5 | 144 | 0.0347 | -5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82324864 | TAAAGA | T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0010a0001c0001t0003g0034a0001c0001t0004g0046others(1): Show | 4 | 144 | 0.0278 | -5 | c.294 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82342053 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0003g0088a0001c0001t0004g0042a0001c0001t0004g0071others(6): Show | 9 | 144 | 0.0625 | -5 | c.178 others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82385647 | GTTGTT | G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01261.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0037a0001c0001t0001g0077a0001c0001t0002g0141others(15): Show | 18 | 144 | 0.1250 | -5 | c.96- others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82402705 | CAAAAA | C | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0002g0097a0001c0001t0002g0103a0001c0001t0006g0138others(3): Show | 6 | 144 | 0.0417 | -5 | c.95+ others(22): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50363989 | CCCCAT | C | 3_prime_UTR_variant | MODIFIER | NA18941.hp2 NA18942.hp2 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0208a0001c0001t0009g0209a0001c0001t0009g0210 | 3 | 234 | 0.0128 | -5 | c.*67 others(14): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 672 | chr3 | TogoVar | |||||
CACNA2D2_chr3_50357613_50508634 | 50398554 | TCTGGC | T | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02055.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0022a0001c0002t0001a0001c0002t0006others(6): Show | a0001c0001t0022g0097a0001c0002t0001g0079a0001c0002t0001g0083others(25): Show | 28 | 234 | 0.1197 | -5 | c.406 others(22): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | GTTTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0037others(3): Show | 6 | 118 | 0.0509 | -5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54306059 | TTAATA | T | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0037others(9): Show | 12 | 118 | 0.1017 | -5 | c.205 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54318129 | AATCTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00673.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0007others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0030a0001c0001t0001g0118others(4): Show | 7 | 118 | 0.0593 | -5 | c.205 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54405098 | TCTATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0030others(43): Show | 46 | 118 | 0.3898 | -5 | c.381 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTT | C | intron_variant | MODIFIER | HG01258.hp1 HG02080.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0003others(3): Show | a0001c0001t0001g0053a0001c0003t0001g0101a0001c0010t0003g0057others(3): Show | 6 | 118 | 0.0509 | -5 | c.382 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54547672 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0001t0001g0068others(9): Show | 12 | 118 | 0.1017 | -5 | c.545 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54721065 | ATTATT | A | intron_variant | MODIFIER | HG00280.hp2 HG01255.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0053a0001c0001t0001g0068others(10): Show | 13 | 118 | 0.1102 | -5 | c.116 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54760238 | CTCTGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0016others(114): Show | 117 | 118 | 0.9915 | -5 | c.124 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822785 | TCTTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0001a0001c0006t0001a0001c0015t0001 | a0001c0001t0001g0035a0001c0006t0001g0009a0001c0015t0001g0072 | 3 | 118 | 0.0254 | -5 | c.139 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54836221 | TTTTTC | T | intron_variant | MODIFIER | HG01106.hp1 HG04115.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0043 | a0001c0001t0001a0001c0004t0002a0001c0043t0001 | a0001c0001t0001g0006a0001c0001t0001g0080a0001c0004t0002g0008others(1): Show | 4 | 118 | 0.0339 | -5 | c.139 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54857323 | ACTCTG | A | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0026 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0061a0001c0002t0001g0060a0001c0002t0002g0091others(1): Show | 4 | 118 | 0.0339 | -5 | c.162 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54898139 | TTTTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01884.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(1): Show | a0001c0001t0001g0033a0001c0002t0001g0115a0001c0008t0001g0074others(3): Show | 6 | 118 | 0.0509 | -5 | c.236 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54898162 | CTTTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(94): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0016others(94): Show | 97 | 118 | 0.8220 | -5 | c.236 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54918327 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0024others(34): Show | 37 | 118 | 0.3136 | -5 | c.244 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |