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 | 81978753 | G | GTATATA | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0021 | a0001c0001t0001g0058 a0001c0001t0011g0028 a0001c0001t0011g0066 others(1): Show |
4 | 144 | 0.0278 | 6 | c.195 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82022222 | A | AACACAC | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0034 others(14): Show |
17 | 144 | 0.1181 | 6 | c.114 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 12/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82103670 | C | CATATAT | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01069.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0038 others(46): Show |
49 | 144 | 0.3403 | 6 | c.526 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82111428 | G | GTGTGTA | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02698.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0003g0086 others(1): Show |
4 | 144 | 0.0278 | 6 | c.526 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82139945 | C | CTATTAT | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01433.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0077 a0001c0001t0002g0100 a0001c0001t0002g0141 others(16): Show |
19 | 144 | 0.1319 | 6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAA | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0013 a0001c0001t0003g0067 a0001c0001t0004g0050 others(6): Show |
9 | 144 | 0.0625 | 6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TTAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG02559.hp2 NA18952.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0008a0001c0008t0001 | a0001c0001t0005g0139 a0001c0001t0008g0073 a0001c0008t0001g0004 |
3 | 144 | 0.0208 | 6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82144627 | T | TATAAAG | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00735.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0051 others(26): Show |
29 | 144 | 0.2014 | 6 | c.355 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82192800 | A | AACACAC | intron_variant | MODIFIER | HG03579.hp2 NA18981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0076 a0001c0002t0001g0032 |
2 | 144 | 0.0139 | 6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | C | CATATAT | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0088 a0001c0002t0001g0040 |
2 | 144 | 0.0139 | 6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82217634 | T | TCACACA | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070 a0001c0001t0003g0088 |
2 | 144 | 0.0139 | 6 | c.295 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01169.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0002g0140 others(11): Show |
14 | 144 | 0.0972 | 6 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82301730 | T | TACACAC | intron_variant | MODIFIER | HG00621.hp1 HG01169.hp2 HG01496.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0133 a0001c0001t0003g0051 a0001c0001t0004g0053 others(11): Show |
14 | 144 | 0.0972 | 6 | c.294 others(25): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82345681 | A | AGTGTGT | intron_variant | MODIFIER | HG00621.hp2 HG01496.hp1 HG01975.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0013 a0001c0001t0003g0039 a0001c0001t0003g0051 others(15): Show |
18 | 144 | 0.1250 | 6 | c.177 others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 2/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82366880 | T | TGCCAGC | intron_variant | MODIFIER | HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0013 a0001c0001t0006g0138 |
2 | 144 | 0.0139 | 6 | c.96- others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82432037 | T | TAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0077 a0001c0001t0004g0079 a0001c0001t0007g0078 others(2): Show |
5 | 144 | 0.0347 | 6 | c.95+ others(23): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50363304 | A | ACGAAGC | 3_prime_UTR_variant | MODIFIER | HG02735.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018 | a0001c0001t0017g0089 a0001c0001t0018g0077 |
2 | 234 | 0.0086 | 6 | c.*13 others(17): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 38/38 | 1361 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50381981 | T | TACACAC | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01192.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0001c0002t0001others(3): Show | a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 others(11): Show |
14 | 234 | 0.0598 | 6 | c.653 others(21): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 6/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50387315 | C | CAAGTTT | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp1 |
a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0028 a0004c0005t0010g0029 |
2 | 234 | 0.0086 | 6 | c.510 others(21): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 5/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50435134 | G | GGGGTGT | intron_variant | MODIFIER | HG02071.hp2 HG02735.hp1 NA18942.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0123 others(6): Show |
9 | 234 | 0.0385 | 6 | c.289 others(21): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50462387 | A | AAATAAT | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01192.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0008others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0105 others(10): Show |
13 | 234 | 0.0556 | 6 | c.288 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50462430 | A | AATAATG | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(7): Show |
a0001a0008 | a0001c0002a0008c0010 | a0001c0002t0001a0001c0002t0006a0001c0002t0013others(1): Show | a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0038 others(7): Show |
10 | 234 | 0.0427 | 6 | c.288 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50468380 | A | AGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(29): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0108 a0001c0001t0001g0112 others(29): Show |
32 | 234 | 0.1368 | 6 | c.288 others(23): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50489616 | A | ACTGGGG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(72): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(15): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0075 others(72): Show |
75 | 234 | 0.3205 | 6 | c.207 others(25): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54125242 | T | TACACAC | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(6): Show | a0001c0001t0001g0029 a0001c0001t0001g0053 a0001c0001t0012g0063 others(8): Show |
11 | 118 | 0.0932 | 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 | 54141061 | C | CTGTGTG | intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0005t0003 | a0001c0001t0012g0063 a0001c0005t0003g0055 |
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 | 54149267 | G | GCACACA | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01123.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0002t0001g0004 others(14): Show |
17 | 118 | 0.1441 | 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 | 54149877 | G | GTGTCTC | intron_variant | MODIFIER | HG01192.hp2 NA19030.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0006t0007 | a0001c0004t0001g0050 a0001c0006t0007g0098 |
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 | 54149883 | G | GTCTCTC | intron_variant | MODIFIER | HG01175.hp1 HG01258.hp2 |
a0001 | a0001c0001a0001c0040 | a0001c0001t0001a0001c0040t0001 | a0001c0001t0001g0010 a0001c0040t0001g0117 |
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 | 54149928 | T | TCTCTCC | intron_variant | MODIFIER | HG00639.hp2 HG02970.hp1 |
a0001 | a0001c0009a0001c0018 | a0001c0009t0001a0001c0018t0001 | a0001c0009t0001g0013 a0001c0018t0001g0076 |
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 | 54171136 | C | CTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0068 a0001c0002t0001g0081 a0001c0003t0001g0054 others(5): Show |
8 | 118 | 0.0678 | 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 | 54171158 | T | TTTTTTA | intron_variant | MODIFIER | HG02965.hp2 HG03486.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0016 a0001c0002t0001g0082 a0001c0013t0001g0105 others(2): Show |
5 | 118 | 0.0424 | 6 | c.204 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54191397 | A | ACATCAT | intron_variant | MODIFIER | HG00438.hp1 NA18979.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0031 a0001c0011t0001g0109 |
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 | 54249662 | T | TACACAC | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0013others(1): Show | a0001c0002t0001a0001c0006t0001a0001c0013t0001others(1): Show | a0001c0002t0001g0040 a0001c0006t0001g0017 a0001c0013t0001g0105 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 | 54252100 | G | GTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01123.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0030 a0001c0002t0001g0004 a0001c0002t0001g0115 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 | 54293563 | T | TTATATA | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01192.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0045 a0001c0002t0001g0004 a0001c0002t0001g0020 others(19): Show |
22 | 118 | 0.1864 | 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 | G | GACACAC | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0003a0001c0028 | a0001c0001t0001a0001c0003t0001a0001c0028t0001 | a0001c0001t0001g0089 a0001c0003t0001g0042 a0001c0028t0001g0090 |
3 | 118 | 0.0254 | 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 | 54319199 | C | CACACAT | intron_variant | MODIFIER | HG00639.hp2 NA18522.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0018a0001c0019 | a0001c0001t0001a0001c0018t0001a0001c0019t0001 | a0001c0001t0001g0016 a0001c0018t0001g0076 a0001c0019t0001g0075 |
3 | 118 | 0.0254 | 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 | 54338467 | C | CTGTGTG | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02486.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0104 a0001c0003t0001g0038 a0001c0003t0001g0094 others(4): Show |
7 | 118 | 0.0593 | 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 | 54346402 | T | TGCCATA | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0045 a0001c0001t0001g0118 others(7): Show |
10 | 118 | 0.0848 | 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 | 54394318 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01123.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0045 a0001c0001t0001g0061 others(12): Show |
15 | 118 | 0.1271 | 6 | c.381 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54394614 | C | CCAATTT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00639.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(28): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0030 others(49): Show |
52 | 118 | 0.4407 | 6 | c.381 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54403356 | A | AACACAC | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0002g0003 others(3): Show |
6 | 118 | 0.0509 | 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 | 54439308 | G | GGTGTGT | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 HG03239.hp1 |
a0001 | a0001c0003a0001c0005a0001c0011 | a0001c0003t0001a0001c0005t0001a0001c0011t0006 | a0001c0003t0001g0094 a0001c0005t0001g0005 a0001c0011t0006g0056 |
3 | 118 | 0.0254 | 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 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01123.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0089 others(14): Show |
17 | 118 | 0.1441 | 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 | 54515199 | T | TGAGAGA | intron_variant | MODIFIER | HG02280.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0068 a0001c0007t0001g0067 |
2 | 118 | 0.0170 | 6 | c.544 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54554870 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02895.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0018t0001others(1): Show | a0001c0001t0003g0058 a0001c0003t0001g0038 a0001c0018t0001g0076 others(1): Show |
4 | 118 | 0.0339 | 6 | c.545 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54590597 | C | CTTATTA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01106.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0033 others(23): Show |
26 | 118 | 0.2203 | 6 | c.963 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54595319 | T | TGTGTGG | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp2 HG01243.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0002t0001g0040 others(10): Show |
13 | 118 | 0.1102 | 6 | c.963 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54618352 | C | CATACAT | intron_variant | MODIFIER | HG01934.hp2 HG02080.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0028others(1): Show | a0001c0003t0001a0001c0004t0001a0001c0028t0001others(1): Show | a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0004t0001g0007 others(2): Show |
5 | 118 | 0.0424 | 6 | c.964 others(23): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |