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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54493060 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0045others(7): Show | 10 | 118 | 0.0848 | -8 | c.382 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522907 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0030a0001c0002t0001g0115a0001c0003t0001g0026others(2): Show | 5 | 118 | 0.0424 | -8 | c.544 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54522933 | TTTACTTA others(1): Show |
T | intron_variant | MODIFIER | HG02080.hp2 HG03130.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0033 | a0001c0002t0001a0001c0002t0002a0001c0033t0001 | a0001c0002t0001g0020a0001c0002t0002g0091a0001c0033t0001g0114 | 3 | 118 | 0.0254 | -8 | c.544 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54533794 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01123.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(24): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0034others(42): Show | 45 | 118 | 0.3814 | -8 | c.545 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54571612 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(10): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0080others(17): Show | 20 | 118 | 0.1695 | -8 | c.888 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646186 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01192.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0007others(5): Show | a0001c0001t0001g0035a0001c0001t0001g0045a0001c0005t0001g0111others(6): Show | 9 | 118 | 0.0763 | -8 | c.116 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54661837 | GATGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0034a0001c0002t0002g0091a0001c0005t0001g0005others(2): Show | 5 | 118 | 0.0424 | -8 | c.116 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54737182 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 |
a0001 | a0001c0003a0001c0034 | a0001c0003t0001a0001c0034t0001 | a0001c0003t0001g0038a0001c0034t0001g0086 | 2 | 118 | 0.0170 | -8 | c.116 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54739751 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0104a0001c0003t0001g0026a0001c0003t0001g0084others(3): Show | 6 | 118 | 0.0509 | -8 | c.116 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54809255 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0045a0001c0002t0001g0039a0001c0002t0001g0070others(3): Show | 6 | 118 | 0.0509 | -8 | c.138 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821641 | GTTCTTTC others(1): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0032others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0032t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0030others(4): Show | 7 | 118 | 0.0593 | -8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54822730 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG03453.hp1 NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0003a0001c0005a0001c0013 | a0001c0003t0001a0001c0005t0001a0001c0013t0001 | a0001c0003t0001g0026a0001c0005t0001g0088a0001c0013t0001g0093 | 3 | 118 | 0.0254 | -8 | c.139 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54871043 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0036 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0053others(7): Show | 10 | 118 | 0.0848 | -8 | c.162 others(25): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54926505 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0045a0001c0001t0001g0087a0001c0002t0001g0082others(8): Show | 11 | 118 | 0.0932 | -8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54933033 | TTCCATCC others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0003g0058a0001c0002t0001g0081a0001c0003t0001g0038others(2): Show | 5 | 118 | 0.0424 | -8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54933051 | CCCTTCCT others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0030a0001c0002t0001g0070a0001c0003t0001g0110others(3): Show | 6 | 118 | 0.0509 | -8 | c.244 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54944812 | GGGGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(19): Show | a0001c0001t0001g0034a0001c0001t0001g0083a0001c0001t0001g0104others(27): Show | 30 | 118 | 0.2542 | -8 | c.245 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54993885 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0013 | a0001c0001t0001a0001c0005t0003a0001c0013t0001 | a0001c0001t0001g0037a0001c0005t0003g0055a0001c0013t0001g0093others(1): Show | 4 | 118 | 0.0339 | -8 | c.269 others(27): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55038864 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01123.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0005others(5): Show | a0001c0001t0001g0097a0001c0002t0001g0004a0001c0012t0005g0027others(5): Show | 8 | 118 | 0.0678 | -8 | c.298 others(29): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55075207 | CTACTTAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01192.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0006others(12): Show | a0001c0001t0001g0006a0001c0002t0002g0066a0001c0002t0002g0091others(14): Show | 17 | 118 | 0.1441 | -8 | c.*10 others(19): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 651 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1802015 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00673.hp2 others(30): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0039a0001c0001t0001g0081a0001c0001t0001g0087others(30): Show | 33 | 318 | 0.1038 | -8 | c.272 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 29/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1896606 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01123.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0151a0001c0001t0001g0167a0001c0001t0001g0191others(17): Show | 20 | 318 | 0.0629 | -8 | c.782 others(25): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39182700 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01099.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0056a0001c0001t0001g0066a0001c0001t0001g0155others(28): Show | 33 | 396 | 0.0833 | -8 | c.105 others(27): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18137084 | CTCCTTCC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03453.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0002a0001c0001t0001g0049a0001c0001t0012g0003 | 3 | 200 | 0.0150 | -8 | c.-36 others(19): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3339 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18141667 | GGTTTTTA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0010others(35): Show | 38 | 200 | 0.1900 | -8 | c.120 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18152732 | ACAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146a0001c0002t0002g0147 | 2 | 200 | 0.0100 | -8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18155897 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01109.hp2 HG01361.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0127a0001c0001t0004g0163a0001c0001t0004g0165others(32): Show | 35 | 200 | 0.1750 | -8 | c.213 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18171521 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(5): Show | a0001c0001t0001g0058a0001c0001t0001g0127a0001c0001t0003g0081others(10): Show | 13 | 200 | 0.0650 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18184649 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(120): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0036others(120): Show | 123 | 200 | 0.6150 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18219176 | AAATACTT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01071.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0003g0026others(30): Show | 33 | 200 | 0.1650 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18220148 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG01074.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0066a0001c0001t0001g0094a0001c0001t0001g0117others(15): Show | 18 | 200 | 0.0900 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220193 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01243.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0003g0136others(26): Show | 29 | 200 | 0.1450 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220228 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01358.hp1 HG01496.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0032a0001c0001t0003g0080a0001c0001t0012g0135others(1): Show | 4 | 200 | 0.0200 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18220232 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01069.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0196a0001c0001t0001g0197others(6): Show | 9 | 200 | 0.0450 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18225578 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0037a0001c0001t0001g0049others(20): Show | 23 | 200 | 0.1150 | -8 | c.213 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18302058 | GGAGGAAA others(1): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02056.hp1 HG02293.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0037others(2): Show | a0001c0001t0001g0034a0001c0001t0004g0153a0001c0001t0037g0194others(3): Show | 6 | 200 | 0.0300 | -8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18348479 | GGACAGAC others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG02148.hp2 HG02615.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(1): Show | a0001c0001t0003g0115a0001c0001t0007g0088a0001c0001t0021g0060others(2): Show | 5 | 200 | 0.0250 | -8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358497 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0003g0115a0001c0001t0004g0158a0001c0001t0009g0052others(7): Show | 10 | 200 | 0.0500 | -8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18358545 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0002t0005g0100 | 3 | 200 | 0.0150 | -8 | c.214 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18398684 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01109.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0003g0095a0001c0001t0003g0136others(25): Show | 28 | 200 | 0.1400 | -8 | c.214 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18417360 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01257.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0031others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0045others(24): Show | 27 | 200 | 0.1350 | -8 | c.333 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18432835 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0031others(88): Show | 91 | 200 | 0.4550 | -8 | c.333 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18495545 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0091a0001c0002t0015g0018a0001c0002t0015g0019others(1): Show | 4 | 200 | 0.0200 | -8 | c.334 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18522877 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp1 HG03041.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0123a0001c0001t0006g0134a0001c0001t0008g0007others(6): Show | 9 | 200 | 0.0450 | -8 | c.944 others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18348479 | GGACAGAC others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02148.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0003g0269a0001c0001t0010g0028a0001c0001t0015g0019others(3): Show | 6 | 302 | 0.0199 | -8 | c.51+ others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358497 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01070.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0126a0001c0001t0003g0059others(12): Show | 15 | 302 | 0.0497 | -8 | c.51+ others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358545 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG03239.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0229a0001c0001t0014g0146others(7): Show | 10 | 302 | 0.0331 | -8 | c.51+ others(25): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18398684 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01109.hp2 others(30): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0024a0001c0001t0001g0243a0001c0001t0001g0245others(29): Show | 33 | 302 | 0.1093 | -8 | c.52- others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18417360 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01074.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0014a0001c0001t0033others(10): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0034others(44): Show | 47 | 302 | 0.1556 | -8 | c.171 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18432835 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(134): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(133): Show | 137 | 302 | 0.4536 | -8 | c.171 others(27): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |