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 | 82387589 | AATGAACA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01074.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0068 a0001c0001t0001g0070 others(26): Show |
29 | 144 | 0.2014 | -12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82393031 | GAGGAAGG others(5): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 144 | 0.0069 | -12 | c.96- others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82426170 | AATAAATA others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0070 others(15): Show |
18 | 144 | 0.1250 | -12 | c.95+ others(29): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50420512 | GGCTTGGG others(5): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0013 | a0003c0013t0008 | a0003c0013t0008g0001 | 1 | 234 | 0.0043 | -12 | c.405 others(31): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50462387 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0031 | 1 | 234 | 0.0043 | -12 | c.288 others(31): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | |||||||
CACNA2D2_chr3_50357613_50508634 | 50489616 | ACTGGGGC others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0160 a0001c0001t0005g0025 |
2 | 234 | 0.0086 | -12 | c.207 others(31): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54125242 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03579.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0070 a0001c0014t0001g0071 |
2 | 118 | 0.0170 | -12 | c.204 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149883 | GTCTCTCT others(5): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp2 |
a0001 | a0001c0002a0001c0023 | a0001c0002t0001a0001c0023t0001 | a0001c0002t0001g0004 a0001c0023t0001g0018 |
2 | 118 | 0.0170 | -12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149920 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03486.hp1 HG04115.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0016 a0001c0003t0001g0011 a0001c0013t0001g0105 others(2): Show |
5 | 118 | 0.0424 | -12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149924 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0087 a0001c0002t0002g0091 a0001c0003t0001g0054 |
3 | 118 | 0.0254 | -12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54188228 | AAAACAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(34): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0024 others(64): Show |
67 | 118 | 0.5678 | -12 | c.204 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54247860 | GCCATGCC others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(97): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 others(97): Show |
100 | 118 | 0.8475 | -12 | c.205 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54338467 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0005a0001c0013 | a0001c0001t0001a0001c0005t0001a0001c0013t0001 | a0001c0001t0001g0083 a0001c0005t0001g0005 a0001c0013t0001g0093 |
3 | 118 | 0.0254 | -12 | c.321 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54350974 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0084 | 1 | 118 | 0.0085 | -12 | c.321 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54412887 | GTTTTGCT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG02080.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0045 others(11): Show |
14 | 118 | 0.1186 | -12 | c.381 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54428849 | TTCCTACA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0079 a0001c0002t0001g0115 a0001c0003t0001g0026 others(5): Show |
8 | 118 | 0.0678 | -12 | c.381 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54500504 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG02080.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0010a0001c0015a0001c0030others(1): Show | a0001c0010t0001a0001c0015t0001a0001c0030t0001others(1): Show | a0001c0010t0001g0065 a0001c0015t0001g0108 a0001c0030t0001g0028 others(1): Show |
4 | 118 | 0.0339 | -12 | c.382 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54522925 | TTTATTTA others(5): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0077 | 1 | 118 | 0.0085 | -12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54522929 | TTTATTTA others(5): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0028 | 1 | 118 | 0.0085 | -12 | c.544 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54571612 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 118 | 0.0085 | -12 | c.888 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646184 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0053 others(16): Show |
19 | 118 | 0.1610 | -12 | c.116 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54646194 | GCTTCCTT others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG02970.hp1 |
a0001 | a0001c0002a0001c0009a0001c0039 | a0001c0002t0001a0001c0009t0001a0001c0039t0001 | a0001c0002t0001g0070 a0001c0009t0001g0013 a0001c0039t0001g0047 |
3 | 118 | 0.0254 | -12 | c.116 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54661838 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG02615.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0026others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0026t0009others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0107 a0001c0002t0001g0039 others(4): Show |
7 | 118 | 0.0593 | -12 | c.116 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54681382 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 others(9): Show |
12 | 118 | 0.1017 | -12 | c.116 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54737182 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01934.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0006 | a0001c0002t0001g0115 a0001c0010t0006g0062 |
2 | 118 | 0.0170 | -12 | c.116 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54739751 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01106.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0033 others(25): Show |
28 | 118 | 0.2373 | -12 | c.116 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763802 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0013a0001c0024 | a0001c0001t0001a0001c0013t0001a0001c0024t0001 | a0001c0001t0001g0016 a0001c0013t0001g0105 a0001c0024t0001g0069 |
3 | 118 | 0.0254 | -12 | c.124 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54763848 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 118 | 0.0085 | -12 | c.124 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54811465 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01175.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0087 others(6): Show |
9 | 118 | 0.0763 | -12 | c.138 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54821641 | GTTCTTTC others(5): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0045 others(7): Show |
10 | 118 | 0.0848 | -12 | c.139 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822782 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0096 | 1 | 118 | 0.0085 | -12 | c.139 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54832011 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 118 | 0.0085 | -12 | c.139 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54836211 | ATTCTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(16): Show |
a0001a0002 | a0001c0006a0001c0011a0001c0014others(10): Show | a0001c0006t0001a0001c0006t0007a0001c0011t0001others(12): Show | a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0006t0007g0098 others(16): Show |
19 | 118 | 0.1610 | -12 | c.139 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0061 others(4): Show |
7 | 118 | 0.0593 | -12 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54871182 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 118 | 0.0085 | -12 | c.162 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54926505 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01255.hp2 |
a0001 | a0001c0002a0001c0018a0001c0042 | a0001c0002t0004a0001c0018t0001a0001c0042t0001 | a0001c0002t0004g0001 a0001c0018t0001g0076 a0001c0042t0001g0078 |
3 | 118 | 0.0254 | -12 | c.244 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0007others(3): Show | a0001c0003t0001g0112 a0001c0004t0001g0095 a0001c0006t0007g0098 others(3): Show |
6 | 118 | 0.0509 | -12 | c.244 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54933109 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0113 | 1 | 118 | 0.0085 | -12 | c.244 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | chr3 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54975521 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02080.hp1 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0001a0001c0018t0001 | a0001c0003t0001g0101 a0001c0018t0001g0076 |
2 | 118 | 0.0170 | -12 | c.255 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0113 | 1 | 118 | 0.0085 | -12 | c.269 others(31): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02630.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(3): Show | a0001c0001t0001g0034 a0001c0001t0012g0063 a0001c0002t0001g0039 others(3): Show |
6 | 118 | 0.0509 | -12 | c.298 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55043324 | CTCTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0098 | 1 | 118 | 0.0085 | -12 | c.298 others(33): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1802015 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(8): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0003a0001c0003t0002a0001c0004t0001others(8): Show | a0001c0001t0003g0045 a0001c0003t0002g0060 a0001c0004t0001g0229 others(8): Show |
11 | 318 | 0.0346 | -12 | c.272 others(29): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1816482 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00733.hp2 others(50): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(16): Show | a0001c0001t0001g0100 a0001c0001t0001g0167 a0001c0001t0003g0043 others(50): Show |
53 | 318 | 0.1667 | -12 | c.255 others(31): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 26/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1851651 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03486.hp1 NA18906.hp2 others(1): Show |
a0005a0018 | a0005c0035a0005c0039a0005c0052others(1): Show | a0005c0035t0012a0005c0039t0001a0005c0052t0001others(1): Show | a0005c0035t0012g0155 a0005c0039t0001g0116 a0005c0052t0001g0281 others(1): Show |
4 | 318 | 0.0126 | -12 | c.224 others(31): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1896606 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02129.hp1 others(14): Show |
a0001a0006a0014others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0002g0111 a0001c0001t0002g0131 a0001c0002t0001g0205 others(14): Show |
17 | 318 | 0.0535 | -12 | c.782 others(29): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | |||||||
CACNA2D4_chr12_1786963_1923652 | 1909174 | GTTTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(24): Show |
a0001a0005a0006 | a0001c0003a0001c0010a0001c0040others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(8): Show | a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0063 others(24): Show |
27 | 318 | 0.0849 | -12 | c.486 others(27): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 4/37 | chr12 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39172738 | TACACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0142 | 1 | 396 | 0.0025 | -12 | c.*24 others(23): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 714 | chr17 | TogoVar | |||||||
CACNB1_chr17_39168453_39202669 | 39182700 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 others(20): Show |
25 | 396 | 0.0631 | -12 | c.105 others(31): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18137084 | CTCCTTCC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(3): Show | a0001c0001t0001g0123 a0001c0001t0008g0180 a0001c0001t0021g0060 others(6): Show |
9 | 200 | 0.0450 | -12 | c.-36 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar |