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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1E_chr1_181478517_181813084 | 181680105 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00642.hp1 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(47): Show | a0001c0001t0002g0001a0001c0001t0004g0146a0001c0001t0010g0028others(72): Show | 75 | 206 | 0.3641 | -11 | c.105 others(32): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1G_chr17_50555715_50632474 | 50585606 | ACCATGAC others(4): Show |
A | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0144 | 1 | 246 | 0.0041 | -11 | c.230 others(30): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 9/37 | chr17 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39588377 | CTTTCTTT others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0055 | 1 | 236 | 0.0042 | -11 | c.237 others(28): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39595926 | CAGGGCGT others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002a0011 | a0002c0031a0011c0029 | a0002c0031t0003a0011c0029t0020 | a0002c0031t0003g0080a0002c0031t0003g0081a0011c0029t0020g0082others(1): Show | 4 | 236 | 0.0170 | -11 | c.237 others(28): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG03139.hp1 others(3): Show |
a0001a0031 | a0001c0014a0001c0016a0001c0017others(2): Show | a0001c0014t0001a0001c0016t0001a0001c0017t0001others(2): Show | a0001c0014t0001g0011a0001c0014t0001g0012a0001c0016t0001g0152others(3): Show | 6 | 314 | 0.0191 | -11 | c.*40 others(22): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81955974 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0073 | 1 | 144 | 0.0069 | -11 | c.315 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81955980 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 144 | 0.0069 | -11 | c.315 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82000771 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01074.hp2 HG01123.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0001g0049others(22): Show | 25 | 144 | 0.1736 | -11 | c.159 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 18/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0079 | 1 | 144 | 0.0069 | -11 | c.527 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82138440 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0034a0001c0001t0004g0046a0001c0001t0005g0110others(2): Show | 5 | 144 | 0.0347 | -11 | c.355 others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82150268 | AACAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02630.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0049a0001c0001t0002g0129a0001c0001t0009g0027others(1): Show | 4 | 144 | 0.0278 | -11 | c.355 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82275181 | TTATTAGT others(4): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(114): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(114): Show | 117 | 144 | 0.8125 | -11 | c.294 others(30): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82428092 | AAAATAAA others(4): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0012a0001c0001t0003g0013a0001c0001t0003g0016others(14): Show | 17 | 144 | 0.1181 | -11 | c.95+ others(28): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50429592 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122a0001c0001t0001g0132a0001c0001t0001g0134others(4): Show | 7 | 234 | 0.0299 | -11 | c.405 others(28): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54131972 | CAATATTG others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01106.hp2 others(7): Show |
a0001 | a0001c0002a0001c0008a0001c0009others(6): Show | a0001c0002t0001a0001c0008t0001a0001c0009t0008others(6): Show | a0001c0002t0001g0070a0001c0002t0001g0079a0001c0008t0001g0074others(7): Show | 10 | 118 | 0.0848 | -11 | c.204 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54265648 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 118 | 0.0085 | -11 | c.205 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54298804 | TGGCTCCA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(13): Show | a0001c0001t0001g0010a0001c0001t0001g0068a0001c0001t0001g0107others(19): Show | 22 | 118 | 0.1864 | -11 | c.205 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54350975 | TTTTTTTG others(4): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02965.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0087a0001c0003t0001g0042others(3): Show | 6 | 118 | 0.0509 | -11 | c.321 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54451229 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 118 | 0.0085 | -11 | c.382 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0118others(9): Show | 12 | 118 | 0.1017 | -11 | c.382 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54790087 | TGTACTAG others(4): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040 | 1 | 118 | 0.0085 | -11 | c.138 others(32): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822816 | TTTCTTTC others(4): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0048 | 1 | 118 | 0.0085 | -11 | c.139 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54829885 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0012g0063a0001c0003t0001g0042others(2): Show | 5 | 118 | 0.0424 | -11 | c.139 others(30): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18286517 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0129 | 1 | 200 | 0.0050 | -11 | c.214 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18289286 | TTTTTTGT others(4): Show |
T | intron_variant | MODIFIER | HG03491.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0055a0001c0002t0002 | a0001c0001t0055g0170a0001c0002t0002g0092 | 2 | 200 | 0.0100 | -11 | c.214 others(32): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18347344 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02280.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0032a0001c0001t0003g0064a0001c0001t0003g0173others(6): Show | 9 | 200 | 0.0450 | -11 | c.214 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18414483 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00609.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0031others(55): Show | 58 | 200 | 0.2900 | -11 | c.333 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18428683 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(181): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(181): Show | 184 | 200 | 0.9200 | -11 | c.333 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481220 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0056 | 1 | 200 | 0.0050 | -11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481224 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0098a0001c0002t0002g0146 | 2 | 200 | 0.0100 | -11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481226 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 200 | 0.0050 | -11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481228 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0020a0001c0002t0027others(3): Show | a0001c0002t0002g0070a0001c0002t0002g0075a0001c0002t0002g0129others(5): Show | 8 | 200 | 0.0400 | -11 | c.334 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18491819 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0003g0064a0001c0001t0003g0080a0001c0001t0003g0173others(12): Show | 15 | 200 | 0.0750 | -11 | c.334 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18502689 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0037 | a0001c0001t0003g0030a0001c0001t0003g0072a0001c0001t0003g0095others(2): Show | 5 | 200 | 0.0250 | -11 | c.593 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536264 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0022a0002c0003t0013a0002c0003t0014others(1): Show | a0001c0005t0022g0186a0002c0003t0013g0175a0002c0003t0014g0073others(3): Show | 6 | 200 | 0.0300 | -11 | c.130 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18347344 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0049a0001c0001t0001g0229a0001c0001t0003g0208others(8): Show | 11 | 302 | 0.0364 | -11 | c.51+ others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18414483 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp1 others(88): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(88): Show | 91 | 302 | 0.3013 | -11 | c.171 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18428683 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(62): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(271): Show | 275 | 302 | 0.9106 | -11 | c.171 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481220 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG03834.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0057a0001c0002t0002 | a0001c0001t0057g0088a0001c0002t0002g0084 | 2 | 302 | 0.0066 | -11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481224 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG03195.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0059a0001c0002t0002 | a0001c0001t0001g0075a0001c0001t0059g0079a0001c0002t0002g0220 | 3 | 302 | 0.0099 | -11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481226 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01928.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0156a0001c0002t0006g0165 | 2 | 302 | 0.0066 | -11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481228 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01109.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0006a0001c0002t0049others(1): Show | a0001c0002t0002g0030a0001c0002t0002g0092a0001c0002t0002g0138others(7): Show | 10 | 302 | 0.0331 | -11 | c.172 others(30): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18491819 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01358.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0014a0001c0001t0001g0251a0001c0001t0003g0208others(15): Show | 18 | 302 | 0.0596 | -11 | c.172 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18502689 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01981.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040a0001c0001t0003g0053a0001c0001t0003g0062others(1): Show | 4 | 302 | 0.0133 | -11 | c.431 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18522877 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 302 | 0.0033 | -11 | c.782 others(28): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18536264 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01433.hp1 others(6): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0021a0002c0003t0009a0002c0003t0013others(2): Show | a0001c0005t0021g0207a0002c0003t0009g0013a0002c0003t0009g0042others(6): Show | 9 | 302 | 0.0298 | -11 | c.114 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | chr10 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151850107 | ATCTTTTC others(4): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0048 | 1 | 230 | 0.0044 | -11 | c.111 others(30): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 12/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151882181 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 230 | 0.0044 | -11 | c.267 others(28): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 3/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151921174 | TAAATAAA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0133a0001c0001t0001g0161a0001c0001t0001g0163others(46): Show | 49 | 230 | 0.2130 | -11 | c.148 others(30): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
CACNB4_chr2_151827771_152104044 | 151957450 | GTAGGGTA others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(51): Show | 54 | 230 | 0.2348 | -11 | c.148 others(30): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar |