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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1G_chr17_50555715_50632474 | 50623545 | A | AGGGCTGG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(1): Show |
a0001a0005 | a0001c0028a0001c0038a0005c0018 | a0001c0028t0001a0001c0038t0001a0005c0018t0001 | a0001c0028t0001g0204a0001c0038t0001g0153a0005c0018t0001g0176others(1): Show | 4 | 246 | 0.0163 | 7 | c.606 others(24): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1216009 | G | GCCCCTGC | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0003a0006a0014others(5): Show | a0003c0015a0003c0028a0003c0107others(7): Show | a0003c0015t0004a0003c0015t0011a0003c0015t0017others(12): Show | a0003c0015t0004g0060a0003c0015t0011g0015a0003c0015t0017g0271others(20): Show | 24 | 338 | 0.0710 | 7 | c.524 others(24): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0003a0001c0001t0001g0017a0001c0001t0001g0030others(56): Show | 60 | 314 | 0.1911 | 7 | c.*40 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201082029 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01978.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0003a0001c0011a0001c0021 | a0001c0003t0001a0001c0003t0002a0001c0011t0001others(1): Show | a0001c0003t0001g0159a0001c0003t0001g0210a0001c0003t0002g0307others(3): Show | 6 | 314 | 0.0191 | 7 | c.139 others(26): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp1 HG02027.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0021a0001c0001t0004g0031a0001c0001t0004g0042others(7): Show | 10 | 144 | 0.0694 | 7 | c.316 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81955980 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0004g0021a0001c0001t0004g0022a0001c0001t0004g0046others(10): Show | 13 | 144 | 0.0903 | 7 | c.315 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 81974786 | A | AGTATTAG | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0070a0001c0001t0001g0077a0001c0001t0002g0103others(106): Show | 109 | 144 | 0.7569 | 7 | c.195 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02683.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0141a0001c0001t0003g0016a0001c0001t0005g0136others(3): Show | 6 | 144 | 0.0417 | 7 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01069.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0047a0001c0001t0002g0094others(21): Show | 24 | 144 | 0.1667 | 7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54246724 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01884.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0104a0001c0002t0001g0081others(11): Show | 14 | 118 | 0.1186 | 7 | c.205 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54394318 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0030a0001c0002t0001g0040a0001c0002t0001g0082others(5): Show | 8 | 118 | 0.0678 | 7 | c.381 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54554870 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0080a0001c0002t0002g0066a0001c0003t0001g0011others(8): Show | 11 | 118 | 0.0932 | 7 | c.545 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAAAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0029a0001c0004t0001g0007a0001c0004t0001g0031others(4): Show | 7 | 118 | 0.0593 | 7 | c.116 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54809311 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01123.hp2 HG01243.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0083a0001c0001t0002g0003others(8): Show | 11 | 118 | 0.0932 | 7 | c.138 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822790 | C | CTTTCTTT | intron_variant | MODIFIER | HG00280.hp2 HG01169.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0107a0001c0010t0001g0065 | 2 | 118 | 0.0170 | 7 | c.139 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54911351 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0024others(39): Show | 42 | 118 | 0.3559 | 7 | c.244 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54969261 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0012a0001c0034 | a0001c0001t0001a0001c0012t0011a0001c0034t0001 | a0001c0001t0001g0037a0001c0012t0011g0036a0001c0034t0001g0086 | 3 | 118 | 0.0254 | 7 | c.251 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 28/37 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGTGTGCG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(92): Show |
a0001a0014a0017others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0078a0001c0001t0001g0081a0001c0001t0001g0083others(92): Show | 95 | 318 | 0.2987 | 7 | c.224 others(26): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18150879 | T | TTTTTTTG | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0006g0005a0001c0001t0008g0007a0001c0002t0002g0004others(2): Show | 5 | 200 | 0.0250 | 7 | c.121 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220275 | A | AGAGAGAG | intron_variant | MODIFIER | HG01192.hp2 HG02293.hp2 |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0027 | a0001c0002t0020g0103a0001c0002t0027g0016 | 2 | 200 | 0.0100 | 7 | c.213 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18228433 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01167.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0048a0001c0001t0003g0087a0001c0001t0003g0199others(10): Show | 13 | 200 | 0.0650 | 7 | c.213 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CATTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0096a0001c0001t0003g0173a0001c0001t0004g0167others(2): Show | 5 | 200 | 0.0250 | 7 | c.214 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18356938 | A | ATGTCTTT | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01109.hp1 others(45): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0034a0001c0001t0001g0058a0001c0001t0001g0079others(45): Show | 48 | 200 | 0.2400 | 7 | c.214 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18426955 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(149): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(149): Show | 152 | 200 | 0.7600 | 7 | c.333 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18464418 | T | TAAAAAAA | intron_variant | MODIFIER | HG02572.hp2 HG03041.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0055a0001c0002t0002 | a0001c0001t0008g0082a0001c0001t0008g0083a0001c0001t0055g0170others(2): Show | 5 | 200 | 0.0250 | 7 | c.334 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATATATA | intron_variant | MODIFIER | HG02922.hp1 NA18973.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0002t0005 | a0001c0001t0019g0124a0001c0002t0005g0200 | 2 | 200 | 0.0100 | 7 | c.334 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18495582 | T | TGTGTGTG | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0064a0001c0001t0003g0080a0001c0001t0003g0173others(11): Show | 14 | 200 | 0.0700 | 7 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18496185 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0036a0001c0002t0005 | a0001c0001t0021g0060a0001c0001t0021g0077a0001c0001t0036g0176others(3): Show | 6 | 200 | 0.0300 | 7 | c.334 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18536243 | C | CTTTTCTT | intron_variant | MODIFIER | HG02083.hp2 HG02258.hp2 HG02300.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017a0001c0002t0020 | a0001c0002t0002g0042a0001c0002t0002g0061a0001c0002t0002g0075others(3): Show | 6 | 200 | 0.0300 | 7 | c.130 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18545868 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG02083.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0066a0001c0001t0001g0114a0001c0001t0007g0039others(9): Show | 12 | 200 | 0.0600 | 7 | c.*61 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2312 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18356938 | A | ATGTCTTT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00738.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0091a0001c0001t0001g0168a0001c0001t0001g0169others(54): Show | 58 | 302 | 0.1921 | 7 | c.51+ others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18426955 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(52): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(230): Show | 234 | 302 | 0.7748 | 7 | c.171 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18481231 | T | TATATATA | intron_variant | MODIFIER | HG02922.hp2 NA18965.hp2 NA18973.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0110a0001c0001t0001g0121a0001c0002t0002g0145others(3): Show | 6 | 302 | 0.0199 | 7 | c.172 others(26): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18495582 | T | TGTGTGTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00642.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0014a0001c0001t0003g0208a0001c0001t0003g0209others(15): Show | 18 | 302 | 0.0596 | 7 | c.172 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18496185 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(4): Show | a0001c0001t0001g0130a0001c0001t0005g0237a0001c0001t0015g0019others(11): Show | 14 | 302 | 0.0464 | 7 | c.172 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18536243 | C | CTTTTCTT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01099.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0048a0001c0002t0049others(3): Show | a0001c0002t0002g0009a0001c0002t0002g0030a0001c0002t0002g0072others(13): Show | 16 | 302 | 0.0530 | 7 | c.114 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18545868 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02083.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(7): Show | a0001c0001t0001g0037a0001c0001t0001g0110a0001c0001t0001g0134others(13): Show | 16 | 302 | 0.0530 | 7 | c.*61 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2312 | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36676969 | T | TGTGTGTG | intron_variant | MODIFIER | HG04204.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0112 | a0001c0001t0005g0127a0001c0001t0112g0213 | 2 | 214 | 0.0094 | 7 | c.211 others(26): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36684615 | C | CAAAAAAA | intron_variant | MODIFIER | HG02602.hp2 NA18963.hp2 NA19084.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(1): Show | a0001c0001t0001g0041a0001c0001t0001g0051a0001c0001t0002g0079others(2): Show | 5 | 214 | 0.0234 | 7 | c.211 others(26): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24280821 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG02015.hp2 HG02040.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0025others(46): Show | 49 | 366 | 0.1339 | 7 | c.211 others(26): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24317648 | A | AAAGAAAG | intron_variant | MODIFIER | HG01243.hp1 HG01928.hp2 HG02738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0074a0001c0001t0001g0080a0001c0001t0001g0098others(7): Show | 10 | 366 | 0.0273 | 7 | c.212 others(26): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG4_chr17_66959707_67038398 | 66980620 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG00735.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(57): Show | 63 | 352 | 0.1790 | 7 | c.220 others(26): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CACNG4_chr17_66959707_67038398 | 67002030 | G | GGTATGAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01256.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0009a0001c0002t0002others(5): Show | a0001c0001t0007g0252a0001c0001t0007g0253a0001c0001t0007g0254others(12): Show | 16 | 352 | 0.0455 | 7 | c.221 others(26): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 53991572 | C | CGAGGGTG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0344a0001c0001t0005g0024a0001c0001t0006g0041others(11): Show | 14 | 430 | 0.0326 | 7 | c.-13 others(18): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 64 | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAATATAT | intron_variant | MODIFIER | HG02056.hp1 HG03710.hp1 NA18962.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0007g0315a0001c0001t0009g0086a0001c0001t0009g0089others(7): Show | 10 | 430 | 0.0233 | 7 | c.545 others(22): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 54017628 | C | CTCTCTCT | downstream_gene_variant | MODIFIER | HG01978.hp2 HG02615.hp2 HG02647.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0143a0001c0001t0003g0002a0001c0001t0003g0018others(8): Show | 12 | 430 | 0.0279 | 7 | c.*54 others(18): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 4963 | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53914273 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00741.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(60): Show | 63 | 364 | 0.1731 | 7 | c.197 others(22): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CACNG8_chr19_53957937_53995215 | 53991572 | C | CGAGGGTG | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0014others(6): Show | a0001c0001t0008g0109a0001c0001t0008g0134a0001c0001t0013g0167others(11): Show | 14 | 394 | 0.0355 | 7 | c.*87 others(18): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 1358 | chr19 | TogoVar | ||||||
CACUL1_chr10_118671411_118759970 | 118679377 | A | ATTTTTAT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(31): Show | a0001c0001t0003g0002a0001c0001t0003g0019a0001c0001t0003g0159others(83): Show | 97 | 388 | 0.2500 | 7 | c.*67 others(18): Show |
CACUL1 | ENSG00000151893.15 | transcript | ENST00000369151.8 | protein_coding | 9/9 | 6750 | chr10 | TogoVar | |||||
CACUL1_chr10_118671411_118759970 | 118690307 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0030a0001c0001t0031others(2): Show | a0001c0001t0008g0010a0001c0001t0008g0045a0001c0001t0008g0046others(4): Show | 8 | 388 | 0.0206 | 7 | c.102 others(24): Show |
CACUL1 | ENSG00000151893.15 | transcript | ENST00000369151.8 | protein_coding | 7/8 | chr10 | TogoVar |