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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1A_chr19_13201442_13511479 | 13490720 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01257.hp1 HG01952.hp2 others(11): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0115a0001c0001t0001g0128a0001c0004t0001g0097others(11): Show | 14 | 218 | 0.0642 | -20 | c.293 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13496071 | TCCATCCA others(13): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02895.hp1 NA19030.hp2 |
a0001a0034a0036 | a0001c0001a0034c0081a0036c0052 | a0001c0001t0004a0034c0081t0019a0036c0052t0006 | a0001c0001t0004g0155a0034c0081t0019g0152a0036c0052t0006g0154 | 3 | 218 | 0.0138 | -20 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497513 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0033 | a0033c0088 | a0033c0088t0001 | a0033c0088t0001g0207 | 1 | 218 | 0.0046 | -20 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497517 | AAAAAATA others(13): Show |
A | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0122 | a0001c0122t0001 | a0001c0122t0001g0174 | 1 | 218 | 0.0046 | -20 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497519 | AAAATATA others(13): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02165.hp1 HG02165.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0003a0004c0047others(1): Show | a0001c0004t0001a0002c0003t0003a0004c0047t0001others(1): Show | a0001c0004t0001g0199a0002c0003t0003g0177a0004c0047t0001g0178others(1): Show | 4 | 218 | 0.0184 | -20 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497521 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02040.hp1 |
a0001 | a0001c0005a0001c0020 | a0001c0005t0001a0001c0020t0001 | a0001c0005t0001g0187a0001c0020t0001g0188 | 2 | 218 | 0.0092 | -20 | c.293 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 137923169 | AGTATTCC others(13): Show |
A | intron_variant | MODIFIER | NA18994.hp2 NA19065.hp2 |
a0001a0002 | a0001c0012a0002c0001 | a0001c0012t0001a0002c0001t0002 | a0001c0012t0001g0032a0002c0001t0002g0211 | 2 | 248 | 0.0081 | -20 | c.966 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137923237 | ATGGTGCC others(13): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02970.hp2 others(2): Show |
a0001a0018a0020 | a0001c0003a0018c0046a0020c0052 | a0001c0003t0007a0001c0003t0043a0018c0046t0016others(1): Show | a0001c0003t0007g0111a0001c0003t0007g0114a0001c0003t0043g0127others(2): Show | 5 | 248 | 0.0202 | -20 | c.966 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137923257 | GTGGTGCC others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0228 | 1 | 248 | 0.0040 | -20 | c.966 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 137923449 | GGTATTCC others(13): Show |
G | intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0008 | a0008c0019 | a0008c0019t0017a0008c0019t0025 | a0008c0019t0017g0124a0008c0019t0017g0125a0008c0019t0025g0126 | 3 | 248 | 0.0121 | -20 | c.966 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138007402 | CTCTGCCC others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(123): Show |
a0001a0002a0007others(8): Show | a0001c0002a0001c0003a0001c0005others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(55): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(123): Show | 126 | 248 | 0.5081 | -20 | c.209 others(37): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG02109.hp1 others(37): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0013others(14): Show | a0001c0002t0005a0001c0002t0008a0001c0002t0011others(26): Show | a0001c0002t0005g0024a0001c0002t0008g0065a0001c0002t0011g0052others(37): Show | 40 | 248 | 0.1613 | -20 | c.509 others(39): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2177583 | CCCTCCCT others(13): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03516.hp1 HG04115.hp2 |
a0001 | a0001c0006a0001c0010a0001c0026 | a0001c0006t0003a0001c0010t0008a0001c0026t0003 | a0001c0006t0003g0069a0001c0010t0008g0064a0001c0026t0003g0066 | 3 | 104 | 0.0289 | -20 | c.477 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2277362 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0036a0001c0011t0014 | a0001c0004t0036g0099a0001c0011t0014g0007 | 2 | 104 | 0.0192 | -20 | c.477 others(41): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2572554 | CCTTCTCC others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0033 | a0001c0001t0045a0001c0033t0020 | a0001c0001t0045g0052a0001c0033t0020g0070 | 2 | 104 | 0.0192 | -20 | c.189 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2646751 | TGAGAGAG others(13): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0003 | 1 | 104 | 0.0096 | -20 | c.391 others(39): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 30/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53572362 | GTTTGTTT others(13): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG02717.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0022a0001c0001t0071a0001c0002t0013others(2): Show | a0001c0001t0022g0056a0001c0001t0071g0034a0001c0002t0013g0044others(2): Show | 5 | 210 | 0.0238 | -20 | c.483 others(39): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53572370 | GTTTGTTT others(13): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0118 | 1 | 210 | 0.0048 | -20 | c.483 others(39): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 3/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53672758 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 |
a0001 | a0001c0011a0001c0017 | a0001c0011t0026a0001c0017t0016 | a0001c0011t0026g0030a0001c0017t0016g0112 | 2 | 210 | 0.0095 | -20 | c.111 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 7/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53691691 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0002g0061a0001c0001t0002g0064a0001c0001t0003g0081others(66): Show | 69 | 210 | 0.3286 | -20 | c.122 others(41): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1D_chr3_53489611_53818733 | 53805724 | CCATCTTC others(13): Show |
C | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 210 | 0.0048 | -20 | c.580 others(37): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 46/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA1F_chrX_49200063_49238340 | 49237330 | TTGCAACA others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 290 | 0.0069 | -20 | c.-40 others(31): Show |
CACNA1F | ENSG00000102001.13 | transcript | ENST00000323022.10 | protein_coding | 3991 | chrX | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1153035 | CGGCCCCG others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0013 | a0013c0084 | a0013c0084t0006 | a0013c0084t0006g0168 | 1 | 338 | 0.0030 | -20 | c.-45 others(29): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 70 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1153055 | TGGCCCCG others(13): Show |
T | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 338 | 0.0030 | -20 | c.-43 others(29): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 50 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1189397 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0058others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0058t0023others(11): Show | a0001c0001t0001g0322a0002c0002t0001g0017a0002c0002t0001g0042others(12): Show | 15 | 338 | 0.0444 | -20 | c.300 others(37): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39583031 | ACCATCCA others(13): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03834.hp2 |
a0002a0007 | a0002c0003a0007c0010 | a0002c0003t0013a0007c0010t0001 | a0002c0003t0013g0017a0007c0010t0001g0016 | 2 | 236 | 0.0085 | -20 | c.236 others(39): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39618232 | CAGGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(43): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0014a0001c0022others(10): Show | a0001c0001t0003a0001c0001t0007a0001c0014t0001others(21): Show | a0001c0001t0003g0023a0001c0001t0007g0038a0001c0014t0001g0045others(43): Show | 46 | 236 | 0.1949 | -20 | c.483 others(37): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82099422 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02572.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0139a0001c0002t0001g0017 | 2 | 144 | 0.0139 | -20 | c.527 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 6/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82185481 | GGGAGGAG others(13): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 144 | 0.0069 | -20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82186235 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0020 | a0001c0001t0002g0097a0001c0001t0003g0076a0001c0001t0003g0086others(1): Show | 4 | 144 | 0.0278 | -20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82192460 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0138 | 1 | 144 | 0.0069 | -20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82217394 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp1 HG01261.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049a0001c0001t0002g0100a0001c0001t0003g0007others(15): Show | 18 | 144 | 0.1250 | -20 | c.295 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82301730 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0073 | 1 | 144 | 0.0069 | -20 | c.294 others(39): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82393031 | GAGGAAGG others(13): Show |
G | intron_variant | MODIFIER | NA18960.hp2 NA18961.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0051a0001c0001t0004g0053a0001c0002t0001g0054 | 3 | 144 | 0.0208 | -20 | c.96- others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D1_chr7_81941444_82448777 | 82426162 | AATAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0003t0001 | a0001c0001t0003g0062a0001c0001t0007g0060a0001c0003t0001g0061 | 3 | 144 | 0.0208 | -20 | c.95+ others(37): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 1/38 | chr7 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50396698 | GGAGGCTG others(13): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0013 | a0001c0002t0001g0033a0001c0002t0001g0034a0001c0002t0001g0037others(19): Show | 22 | 234 | 0.0940 | -20 | c.406 others(37): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50468379 | TAGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0097 | 1 | 234 | 0.0043 | -20 | c.288 others(37): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 2/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54149912 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0093 | 1 | 118 | 0.0085 | -20 | c.204 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54149916 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0033a0001c0031t0001g0032 | 2 | 118 | 0.0170 | -20 | c.204 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54280060 | GTTTGTTT others(13): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0041 | 1 | 118 | 0.0085 | -20 | c.205 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54337146 | TGGTGGTA others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0037others(8): Show | 11 | 118 | 0.0932 | -20 | c.321 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54500488 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 118 | 0.0085 | -20 | c.382 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646126 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00673.hp1 |
a0001 | a0001c0003a0001c0015a0001c0041 | a0001c0003t0001a0001c0015t0001a0001c0041t0001 | a0001c0003t0001g0112a0001c0015t0001g0072a0001c0041t0001g0085 | 3 | 118 | 0.0254 | -20 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646180 | CTCCCTCC others(13): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01255.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046a0001c0001t0001g0080a0001c0002t0001g0012 | 3 | 118 | 0.0254 | -20 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646184 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02300.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0020a0001c0002t0002g0066a0001c0004t0001g0022others(2): Show | 5 | 118 | 0.0424 | -20 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54646194 | GCTTCCTT others(13): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02615.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0061a0001c0001t0001g0083others(6): Show | 9 | 118 | 0.0763 | -20 | c.116 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54661838 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01255.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0035a0001c0001t0001g0037a0001c0001t0001g0046others(6): Show | 9 | 118 | 0.0763 | -20 | c.116 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54736087 | GTGTATAT others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0005a0001c0007 | a0001c0002t0002a0001c0005t0003a0001c0007t0001 | a0001c0002t0002g0091a0001c0005t0003g0055a0001c0007t0001g0067 | 3 | 118 | 0.0254 | -20 | c.116 others(41): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54763758 | CACATATA others(13): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02258.hp1 |
a0001 | a0001c0005a0001c0011 | a0001c0005t0003a0001c0011t0001 | a0001c0005t0003g0055a0001c0011t0001g0109 | 2 | 118 | 0.0170 | -20 | c.124 others(37): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 54821634 | GTCTTTCG others(13): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0088 | 1 | 118 | 0.0085 | -20 | c.139 others(39): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |