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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D1_chr7_81941444_82448777 | 82217394 | CATATAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0087 a0001c0001t0002g0103 a0001c0001t0002g0143 others(2): Show |
5 | 144 | 0.0347 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82232861 | CAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp1 HG01884.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0003g0062 others(10): Show |
13 | 144 | 0.0903 | -6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82288422 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0037 others(48): Show |
51 | 144 | 0.3542 | -6 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82297072 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG02109.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0020others(4): Show | a0001c0001t0002g0097 a0001c0001t0018g0135 a0001c0001t0020g0114 others(5): Show |
8 | 144 | 0.0556 | -6 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82301730 | TACACAC | T | intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02683.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0097 a0001c0001t0004g0029 a0001c0001t0005g0111 others(6): Show |
9 | 144 | 0.0625 | -6 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82332536 | AAGAAAG | A | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0077 a0001c0001t0003g0016 a0001c0001t0003g0062 others(12): Show |
15 | 144 | 0.1042 | -6 | c.294 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82345681 | AGTGTGT | A | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0012a0001c0003t0001a0001c0004t0003 | a0001c0001t0012g0102 a0001c0003t0001g0011 a0001c0004t0003g0082 |
3 | 144 | 0.0208 | -6 | c.177 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82378938 | CGTGTGT | C | intron_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01169.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0049 a0001c0001t0002g0100 a0001c0001t0002g0103 others(30): Show |
33 | 144 | 0.2292 | -6 | c.96- others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82404569 | TAGTTAC | T | intron_variant | MODIFIER | HG01167.hp2 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0017a0001c0002t0001 | a0001c0001t0010g0089 a0001c0001t0017g0091 a0001c0002t0001g0040 |
3 | 144 | 0.0208 | -6 | c.95+ others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50371346 | ATGTGTG | A | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 |
a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | 234 | 0.0086 | -6 | c.198 others(23): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 22/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50381981 | TACACAC | T | intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01496.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0024 | a0001c0001t0001g0104 a0001c0001t0001g0199 a0001c0001t0001g0200 others(2): Show |
5 | 234 | 0.0214 | -6 | c.653 others(21): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50461758 | AAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0049 a0001c0001t0005g0008 a0001c0001t0005g0015 others(4): Show |
7 | 234 | 0.0299 | -6 | c.288 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50462387 | AAATAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01975.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0143 a0001c0001t0002g0044 a0001c0001t0002g0053 others(11): Show |
14 | 234 | 0.0598 | -6 | c.288 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50468380 | AGTGTGT | A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0129 others(9): Show |
12 | 234 | 0.0513 | -6 | c.288 others(23): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50489616 | ACTGGGG | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(13): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0188 others(13): Show |
16 | 234 | 0.0684 | -6 | c.207 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50503464 | TGGCGGC | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01167.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0014 others(22): Show |
25 | 234 | 0.1068 | -6 | c.-47 others(13): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/38 | 42 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54125242 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01192.hp1 others(9): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0002t0001g0079 a0001c0004t0001g0050 a0001c0005t0001g0052 others(9): Show |
12 | 118 | 0.1017 | -6 | c.204 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54141086 | TGCGCGC | T | intron_variant | MODIFIER | HG02486.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0003 a0001c0003t0001g0026 |
2 | 118 | 0.0170 | -6 | c.204 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54191397 | ACATCAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00673.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0029 others(26): Show |
29 | 118 | 0.2458 | -6 | c.204 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54227203 | ATGTTAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0053 others(14): Show |
17 | 118 | 0.1441 | -6 | c.205 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54240216 | TTTGTTG | T | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0002a0001c0021a0001c0022others(1): Show | a0001c0002t0001a0001c0021t0002a0001c0022t0001others(1): Show | a0001c0002t0001g0039 a0001c0021t0002g0023 a0001c0022t0001g0041 others(1): Show |
4 | 118 | 0.0339 | -6 | c.205 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54303818 | GTTTTTT | G | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(3): Show | a0001c0002t0001g0082 a0001c0003t0001g0094 a0001c0007t0001g0044 others(3): Show |
6 | 118 | 0.0509 | -6 | c.205 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54319157 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(14): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(10): Show | a0001c0002t0001g0012 a0001c0002t0001g0079 a0001c0002t0001g0115 others(14): Show |
17 | 118 | 0.1441 | -6 | c.205 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54330210 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG02080.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0087 others(7): Show |
10 | 118 | 0.0848 | -6 | c.321 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01243.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0033 others(12): Show |
15 | 118 | 0.1271 | -6 | c.321 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54403356 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0006t0007a0001c0008t0001others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0080 a0001c0001t0001g0107 others(7): Show |
10 | 118 | 0.0848 | -6 | c.381 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54445555 | TACACAC | T | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005a0001c0010 | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(1): Show | a0001c0002t0001g0020 a0001c0002t0002g0091 a0001c0005t0001g0052 others(1): Show |
4 | 118 | 0.0339 | -6 | c.382 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(16): Show | a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0046 others(25): Show |
28 | 118 | 0.2373 | -6 | c.382 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54533794 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0016 a0001c0001t0001g0030 a0001c0001t0001g0035 others(33): Show |
36 | 118 | 0.3051 | -6 | c.545 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54571612 | AGTGTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01070.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(17): Show | a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0061 others(25): Show |
28 | 118 | 0.2373 | -6 | c.888 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54661840 | GTGTGTA | G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 |
a0001 | a0001c0022a0001c0023 | a0001c0022t0001a0001c0023t0001 | a0001c0022t0001g0041 a0001c0023t0001g0018 |
2 | 118 | 0.0170 | -6 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54682161 | GCACACA | G | intron_variant | MODIFIER | HG01169.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0100 |
2 | 118 | 0.0170 | -6 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54702387 | GAACTTA | G | intron_variant | MODIFIER | HG02630.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0006 | a0001c0001t0001g0033 a0001c0011t0006g0056 |
2 | 118 | 0.0170 | -6 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54737182 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(16): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0061 others(25): Show |
28 | 118 | 0.2373 | -6 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54739751 | ATGTGTG | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0037 a0001c0002t0001g0060 a0001c0002t0001g0115 others(5): Show |
8 | 118 | 0.0678 | -6 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54805314 | TAAAGAA | T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0045 a0001c0002t0001g0039 a0001c0007t0001g0043 others(2): Show |
5 | 118 | 0.0424 | -6 | c.138 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54859972 | GCACACA | G | intron_variant | MODIFIER | HG03195.hp1 NA18951.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0104 a0001c0015t0001g0108 |
2 | 118 | 0.0170 | -6 | c.162 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54862378 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0035 others(33): Show |
36 | 118 | 0.3051 | -6 | c.162 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0118 others(14): Show |
17 | 118 | 0.1441 | -6 | c.162 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54918326 | TTTTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0003g0058 others(6): Show |
9 | 118 | 0.0763 | -6 | c.244 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54926505 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01123.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(16): Show | a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0080 others(26): Show |
29 | 118 | 0.2458 | -6 | c.244 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54932349 | ATACGCG | A | intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0035a0001c0043 | a0001c0001t0001a0001c0035t0001a0001c0043t0001 | a0001c0001t0001g0087 a0001c0035t0001g0049 a0001c0043t0001g0051 |
3 | 118 | 0.0254 | -6 | c.244 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | AGTGTGT | A | intron_variant | MODIFIER | HG01243.hp1 HG01258.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0024 a0001c0002t0001g0039 a0001c0003t0001g0038 others(7): Show |
10 | 118 | 0.0848 | -6 | c.269 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55008888 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01192.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(8): Show | a0001c0001t0001g0034 a0001c0001t0012g0063 a0001c0002t0001g0040 others(11): Show |
14 | 118 | 0.1186 | -6 | c.282 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55033584 | GTATATA | G | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01169.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(27): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0034 others(32): Show |
35 | 118 | 0.2966 | -6 | c.298 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | CTATATA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00673.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0080 others(17): Show |
20 | 118 | 0.1695 | -6 | c.298 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1802015 | CTGTGTG | C | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00673.hp1 others(28): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0083 a0001c0001t0001g0122 a0001c0001t0001g0179 others(28): Show |
31 | 318 | 0.0975 | -6 | c.272 others(23): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1804121 | CTGTGTG | C | intron_variant | MODIFIER | HG02015.hp1 HG04115.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0058 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0122 a0001c0001t0002g0123 a0001c0001t0004g0040 others(1): Show |
4 | 318 | 0.0126 | -6 | c.272 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1818465 | CCTTACT | C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0053 | a0001c0001t0015a0001c0001t0022a0001c0006t0019others(1): Show | a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0001t0022g0164 others(2): Show |
5 | 318 | 0.0157 | -6 | c.255 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1896606 | AACACAC | A | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01069.hp2 others(71): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0096 others(71): Show |
74 | 318 | 0.2327 | -6 | c.782 others(23): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar |