view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0033 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0027 | a0003c0027t0011 | a0003c0027t0011g0012 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0039 | a0004c0039t0009 | a0004c0039t0009g0040 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0079 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5393): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0059 | 1 | 2 | 0.5000 | 5400 | c.477 others(5421): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432084 | T | TAGGGTGG others(5393): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0033 | 1 | 282 | 0.0035 | 5400 | c.101 others(5417): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775380 | A | ATTTTTTT others(5394): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 85 | 0.0118 | 5401 | c.*16 others(5422): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775381 | T | TTTTTTTT others(5394): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0096 |
2 | 155 | 0.0129 | 5401 | c.*16 others(5422): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56780782 | A | ATTTTTTT others(5395): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0008g0001 |
3 | 51 | 0.0588 | 5402 | c.*16 others(5423): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186109 | C | CGTAGGGG others(5396): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0024 | a0024c0021 | a0024c0021t0004 | a0024c0021t0004g0069 | 1 | 336 | 0.0030 | 5403 | c.300 others(5420): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771460 | T | TCCTCCTC others(5396): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 157 | 0.0064 | 5403 | c.*16 others(5424): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56780782 | A | ATTTTTTT others(5396): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 49 | 0.0204 | 5403 | c.*16 others(5424): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169859 | T | TCCCCCTC others(5396): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 74 | 0.0135 | 5403 | c.*17 others(5412): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 84 | chrX | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5397): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0031 | a0002c0031t0001 | a0002c0031t0001g0240 | 1 | 34 | 0.0294 | 5404 | c.299 others(5419): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5399): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0081 | a0081c0047 | a0081c0047t0001 | a0081c0047t0001g0095 | 1 | 34 | 0.0294 | 5406 | c.299 others(5421): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947949 | G | ATGGTGGT others(5402): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 126 | 0.0079 | 5409 | c.47- others(5426): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | chr10 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771371 | C | CTCCTCCT others(5403): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 156 | 0.0064 | 5410 | c.*16 others(5431): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(5404): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0010 | 1 | 3 | 0.3333 | 5411 | c.169 others(5428): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371346 | A | ATGTTCTA others(5404): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0169 | 1 | 280 | 0.0036 | 5411 | c.286 others(5428): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150497 | C | TACCACAC others(5405): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 243 | 0.0041 | 5412 | c.902 others(5427): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(5405): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 9 | 0.1111 | 5412 | c.299 others(5429): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 62 | 0.0161 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 62 | 0.0161 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG02602.hp1 HG04115.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 a0002c0002t0002g0125 |
2 | 63 | 0.0317 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(43): Show |
a0002a0004 | a0002c0002a0002c0006a0002c0009others(1): Show | a0002c0002t0002a0002c0006t0002a0002c0009t0001others(1): Show | a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 others(42): Show |
46 | 107 | 0.4299 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0145 | 1 | 62 | 0.0161 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03490.hp1 HG03654.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0138 a0002c0002t0002g0152 |
3 | 64 | 0.0469 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5406): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 62 | 0.0161 | 5413 | c.286 others(5430): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146109351 | G | GAGAGAGA others(5407): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0040 | a0040c0099 | a0040c0099t0002 | a0040c0099t0002g0103 | 1 | 161 | 0.0062 | 5414 | c.450 others(5431): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 35/89 | chr1 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5408): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 129 | 0.0078 | 5415 | c.86- others(5428): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5409): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 55 | 0.0182 | 5416 | c.891 others(5431): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGGGGGG others(5410): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0195 | 1 | 244 | 0.0041 | 5417 | c.157 others(5434): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073173 | G | GAGCCCCC others(5410): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0027 | 1 | 98 | 0.0102 | 5417 | c.224 others(5434): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5411): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0172 | 1 | 212 | 0.0047 | 5418 | c.225 others(5435): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGATGG others(5411): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0060 | 1 | 278 | 0.0036 | 5418 | c.101 others(5435): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5412): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 55 | 0.0182 | 5419 | c.891 others(5434): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(5412): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0027 | a0027c0035 | a0027c0035t0001 | a0027c0035t0001g0039 | 1 | 32 | 0.0313 | 5419 | c.218 others(5434): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150250966 | A | ATCCCCCA others(5413): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 29 | 0.0345 | 5420 | c.207 others(5439): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693687 | A | ACCACCAC others(5416): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 221 | 0.0045 | 5423 | c.*67 others(5434): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4959 | chr20 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5416): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0210 | 1 | 248 | 0.0040 | 5423 | c.520 others(5438): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646394 | A | ACCACCTC others(5417): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 157 | 0.0064 | 5424 | c.-35 others(5445): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5419): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 8 | 0.1250 | 5426 | c.-45 others(5435): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5419): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0211 | 1 | 248 | 0.0040 | 5426 | c.520 others(5441): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217773891 | T | TGAGTACA others(5420): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 248 | 0.0040 | 5427 | c.520 others(5442): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864117 | C | CCATTCCC others(5421): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0029 | 1 | 172 | 0.0058 | 5428 | c.225 others(5445): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0012 | a0002c0009t0012g0066 a0002c0009t0012g0067 |
2 | 3 | 0.6667 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0028 | a0006c0028t0006 | a0006c0028t0006g0051 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0023 | a0003c0023t0011 | a0003c0023t0011g0048 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0025 | a0001c0025t0007 | a0001c0025t0007g0014 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5423): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0003 | a0003c0035 | a0003c0035t0025 | a0003c0035t0025g0077 | 1 | 2 | 0.5000 | 5430 | c.477 others(5451): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |