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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CADM2_chr3_84953989_86079429 | 85308310 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04115.hp2 NA18952.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0039a0001c0002t0048 | a0001c0001t0009g0008a0001c0001t0039g0072a0001c0002t0048g0096 | 3 | 146 | 0.0206 | 18 | c.61+ others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85354618 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0018others(5): Show | a0001c0001t0003g0069a0001c0001t0003g0085a0001c0001t0003g0093others(8): Show | 11 | 146 | 0.0753 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85359637 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0043 | a0001c0001t0012g0086a0001c0001t0043g0060 | 2 | 146 | 0.0137 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85427200 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0058 | 1 | 146 | 0.0069 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0048 | a0001c0002t0048g0096 | 1 | 146 | 0.0069 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATGTA others(11): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 146 | 0.0069 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85449052 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0084a0001c0001t0002g0137a0001c0001t0007g0029others(9): Show | 12 | 146 | 0.0822 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85481229 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 146 | 0.0069 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85543420 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079a0001c0001t0001g0080 | 2 | 146 | 0.0137 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85568473 | C | CTCTCTTT others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG03540.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0047a0001c0001t0004g0075a0001c0001t0009g0037others(5): Show | 8 | 146 | 0.0548 | 18 | c.62- others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85628584 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0020 | a0001c0001t0002g0100a0001c0001t0008g0101a0001c0001t0020g0043 | 3 | 146 | 0.0206 | 18 | c.62- others(35): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85777244 | A | AATTATTA others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0126a0001c0001t0021g0127 | 2 | 146 | 0.0137 | 18 | c.89- others(35): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0036 | 1 | 146 | 0.0069 | 18 | c.529 others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85898937 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0037 | a0001c0001t0002g0144a0001c0001t0037g0054 | 2 | 146 | 0.0137 | 18 | c.529 others(37): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85939468 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03710.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0090a0001c0001t0001g0099a0001c0001t0004g0105others(1): Show | 4 | 146 | 0.0274 | 18 | c.791 others(35): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 86066332 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0107 | 1 | 146 | 0.0069 | 18 | c.109 others(35): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122315272 | G | GCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0008a0001c0002t0001g0124 | 2 | 126 | 0.0159 | 18 | c.*48 others(29): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3138 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122315274 | G | GCGCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 126 | 0.0079 | 18 | c.*48 others(29): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3136 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122315274 | G | GCTCTCTC others(11): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0077a0001c0001t0003g0062 | 2 | 126 | 0.0159 | 18 | c.*48 others(29): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3136 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122403744 | C | CATTCATT others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 |
a0002 | a0002c0006 | a0002c0006t0001a0002c0006t0002 | a0002c0006t0001g0059a0002c0006t0002g0055 | 2 | 126 | 0.0159 | 18 | c.274 others(37): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 20/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122527617 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 126 | 0.0079 | 18 | c.147 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122539753 | C | CTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(85): Show | 88 | 126 | 0.6984 | 18 | c.147 others(39): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 8/29 | chr7 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122579450 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03225.hp1 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0001a0002c0006t0001 | a0001c0005t0001g0087a0002c0006t0001g0059 | 2 | 126 | 0.0159 | 18 | c.133 others(37): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 7/29 | chr7 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62474153 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0019a0001c0001t0001g0090a0001c0003t0001g0070 | 3 | 160 | 0.0188 | 18 | c.347 others(33): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 24/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62525679 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0004t0001a0001c0005t0001 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0082others(4): Show | 7 | 160 | 0.0438 | 18 | c.229 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 13/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62576788 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 160 | 0.0063 | 18 | c.157 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 8/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62638077 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 160 | 0.0063 | 18 | c.132 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62648691 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0035a0001c0001t0001g0137 | 3 | 160 | 0.0188 | 18 | c.120 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 5/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62748344 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 160 | 0.0063 | 18 | c.888 others(35): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 3/29 | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62843492 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0032a0001c0001t0001g0033others(2): Show | 5 | 160 | 0.0313 | 18 | c.441 others(37): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 1/29 | chr3 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7358025 | G | GAAATATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 360 | 0.0028 | 18 | c.219 others(37): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7358027 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02132.hp1 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0174a0001c0001t0001g0198a0001c0001t0002g0296others(1): Show | 4 | 360 | 0.0111 | 18 | c.219 others(37): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
CAGE1_chr6_7321659_7394742 | 7358065 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 360 | 0.0028 | 18 | c.219 others(37): Show |
CAGE1 | ENSG00000164304.16 | transcript | ENST00000502583.6 | protein_coding | 9/13 | chr6 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71356943 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01169.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0304others(17): Show | 20 | 426 | 0.0470 | 18 | c.-18 others(29): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1779 | chr16 | TogoVar | ||||||
CALB2_chr16_71353723_71395433 | 71366022 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 426 | 0.0024 | 18 | c.95- others(33): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CALB2_chr16_71353723_71395433 | 71382155 | A | AAGGAAGG others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(174): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(155): Show | 177 | 426 | 0.4155 | 18 | c.343 others(33): Show |
CALB2 | ENSG00000172137.19 | transcript | ENST00000302628.9 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854382 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 328 | 0.0031 | 18 | c.912 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02135.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0027 | a0001c0001t0002g0291a0001c0001t0002g0295a0001c0001t0002g0315others(2): Show | 5 | 328 | 0.0152 | 18 | c.912 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03239.hp2 NA18941.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0023 | a0001c0001t0002g0238a0001c0001t0002g0282a0001c0001t0002g0283others(3): Show | 6 | 328 | 0.0183 | 18 | c.912 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287a0001c0001t0002g0292 | 2 | 328 | 0.0061 | 18 | c.912 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 328 | 0.0031 | 18 | c.912 others(35): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48857497 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01433.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0162a0001c0001t0002g0263others(4): Show | 7 | 328 | 0.0213 | 18 | c.100 others(37): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CALCRL_chr2_187336964_187453252 | 187366249 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18522.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0025a0001c0001t0008g0028a0001c0001t0010g0318others(1): Show | 4 | 344 | 0.0116 | 18 | c.501 others(35): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 8/14 | chr2 | TogoVar | ||||||
CALCRL_chr2_187336964_187453252 | 187386700 | A | ATAAAATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(269): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0272a0001c0001t0001g0319a0001c0001t0001g0320others(259): Show | 272 | 344 | 0.7907 | 18 | c.-37 others(33): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93550598 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0254 | 1 | 292 | 0.0034 | 18 | c.-27 others(37): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0023 | 1 | 292 | 0.0034 | 18 | c.-27 others(37): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93568509 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125 | 2 | 292 | 0.0069 | 18 | c.-27 others(35): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
CALD1_chr7_134774634_134975729 | 134958887 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0106 | 2 | 262 | 0.0076 | 18 | c.206 others(35): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CALHM1_chr10_103448240_103463900 | 103451642 | C | CAGGAGGA others(11): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0022a0001c0001t0008g0011 | 2 | 462 | 0.0043 | 18 | c.*36 others(29): Show |
CALHM1 | ENSG00000185933.7 | transcript | ENST00000329905.6 | protein_coding | 1597 | chr10 | TogoVar | ||||||
CALHM1_chr10_103448240_103463900 | 103451675 | G | GAGGAGGA others(11): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02896.hp2 others(4): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0009a0001c0002t0002a0001c0002t0028others(1): Show | a0001c0001t0009g0032a0001c0002t0002g0002a0001c0002t0028g0038others(1): Show | 7 | 462 | 0.0152 | 18 | c.*35 others(29): Show |
CALHM1 | ENSG00000185933.7 | transcript | ENST00000329905.6 | protein_coding | 1564 | chr10 | TogoVar |