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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP63_chr3_134481057_134570031 | 134565801 | TAAGAA | T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03139.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 others(1): Show |
4 | 322 | 0.0124 | -5 | c.*42 others(16): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 771 | chr3 | TogoVar | |||||||
CEP68_chr2_65051416_65092004 | 65066744 | AAATAT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(31): Show |
a0001a0003a0006others(1): Show | a0001c0006a0003c0003a0006c0007others(1): Show | a0001c0006t0006a0001c0006t0025a0003c0003t0001others(8): Show | a0001c0006t0006g0119 a0001c0006t0025g0128 a0003c0003t0001g0125 others(22): Show |
34 | 360 | 0.0944 | -5 | c.-46 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65066746 | ATATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01257.hp2 others(2): Show |
a0003a0006 | a0003c0003a0006c0007 | a0003c0003t0003a0006c0007t0003 | a0003c0003t0003g0102 a0003c0003t0003g0123 a0006c0007t0003g0024 others(1): Show |
5 | 360 | 0.0139 | -5 | c.-46 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
CEP68_chr2_65051416_65092004 | 65073108 | CCTTAT | C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 a0001c0001t0007g0143 a0001c0001t0007g0144 |
5 | 360 | 0.0139 | -5 | c.188 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65081694 | TTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(64): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0002c0002others(8): Show | a0001c0001t0024a0001c0006t0006a0001c0006t0025others(10): Show | a0001c0001t0024g0069 a0001c0006t0006g0113 a0001c0006t0006g0114 others(43): Show |
67 | 360 | 0.1861 | -5 | c.210 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138495007 | ATTTGT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
a0003 | a0003c0003a0003c0005a0003c0007 | a0003c0003t0003a0003c0005t0003a0003c0007t0003 | a0003c0003t0003g0003 a0003c0003t0003g0009 a0003c0003t0003g0010 others(70): Show |
79 | 318 | 0.2484 | -5 | c.*3_ others(10): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 18/18 | 3 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138527166 | TTTTTG | T | intron_variant | MODIFIER | HG01175.hp1 HG01433.hp2 HG02602.hp1 others(2): Show |
a0003a0006 | a0003c0003a0006c0009 | a0003c0003t0003a0006c0009t0004 | a0003c0003t0003g0010 a0003c0003t0003g0011 a0006c0009t0004g0217 |
5 | 318 | 0.0157 | -5 | c.870 others(22): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 10/17 | chr3 | TogoVar | |||||||
CEP70_chr3_138489344_138599260 | 138532605 | CGGTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(88): Show |
a0003a0004 | a0003c0003a0003c0005a0003c0007others(1): Show | a0003c0003t0001a0003c0003t0003a0003c0005t0003others(2): Show | a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0060 others(82): Show |
91 | 318 | 0.2862 | -5 | c.636 others(18): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
CEP76_chr18_12667625_12707723 | 12671638 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01952.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0003 others(4): Show |
9 | 380 | 0.0237 | -5 | c.*17 others(16): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 986 | chr18 | TogoVar | |||||||
CEP78_chr9_78231075_78284690 | 78236969 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(6): Show | a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0092 others(27): Show |
34 | 340 | 0.1000 | -5 | c.253 others(20): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78237955 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01074.hp1 others(24): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0014 | a0001c0003t0004a0001c0003t0009a0001c0003t0027others(8): Show | a0001c0003t0004g0016 a0001c0003t0004g0031 a0001c0003t0004g0176 others(20): Show |
27 | 340 | 0.0794 | -5 | c.253 others(22): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP78_chr9_78231075_78284690 | 78254666 | GAATAA | G | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0028a0001c0004t0062 | a0001c0004t0014g0023 a0001c0004t0014g0115 a0001c0004t0028g0219 others(2): Show |
6 | 340 | 0.0177 | -5 | c.125 others(22): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 10/16 | chr9 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94343470 | CTTTTT | C | intron_variant | MODIFIER | HG01070.hp2 HG02976.hp2 NA18954.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0001g0049 a0001c0001t0001g0138 others(3): Show |
6 | 364 | 0.0165 | -5 | c.134 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 11/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94385730 | CCTTTA | C | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 a0001c0001t0007g0030 a0001c0001t0007g0031 others(1): Show |
4 | 364 | 0.0110 | -5 | c.550 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94413794 | CTTTAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(98): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0010 | a0001c0001t0001a0001c0011t0001a0007c0010t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(98): Show |
101 | 364 | 0.2775 | -5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94434070 | CATAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01978.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0011a0007c0010 | a0001c0001t0001a0001c0011t0001a0007c0010t0001 | a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0242 others(14): Show |
17 | 364 | 0.0467 | -5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118496356 | TTTTTA | T | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0001a0004c0004t0006a0005c0005t0008others(2): Show | a0001c0001t0001g0133 a0004c0004t0006g0041 a0004c0004t0006g0042 others(16): Show |
19 | 302 | 0.0629 | -5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519464 | GTGTGT | G | intron_variant | MODIFIER | HG00741.hp1 HG02809.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031 | a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0031g0302 |
3 | 302 | 0.0099 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519574 | GTGTGT | G | intron_variant | MODIFIER | HG01255.hp2 HG02818.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0023a0002c0002t0002a0005c0005t0008 | a0001c0001t0023g0078 a0002c0002t0002g0189 a0002c0002t0002g0273 others(3): Show |
6 | 302 | 0.0199 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519576 | GTGTGT | G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01934.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0178 a0002c0002t0005g0265 a0002c0002t0005g0267 others(4): Show |
7 | 302 | 0.0232 | -5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118534100 | TCAAAA | T | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02965.hp2 others(3): Show |
a0007 | a0007c0007 | a0007c0007t0011a0007c0007t0013 | a0007c0007t0011g0253 a0007c0007t0011g0254 a0007c0007t0011g0255 others(3): Show |
6 | 302 | 0.0199 | -5 | c.102 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118544107 | CTGAGA | C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG01884.hp2 others(9): Show |
a0005a0012 | a0005c0005a0012c0011 | a0005c0005t0008a0005c0005t0015a0012c0011t0008 | a0005c0005t0008g0250 a0005c0005t0008g0251 a0005c0005t0008g0252 others(9): Show |
12 | 302 | 0.0397 | -5 | c.102 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 3/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(35): Show |
a0003a0011 | a0003c0003a0011c0010 | a0003c0003t0003a0003c0003t0016a0011c0010t0003 | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 others(35): Show |
38 | 302 | 0.1258 | -5 | c.233 others(22): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGT | G | intron_variant | MODIFIER | HG01069.hp2 HG01934.hp2 HG02083.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0110 a0001c0001t0004g0099 a0001c0001t0004g0100 others(5): Show |
8 | 302 | 0.0265 | -5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26252341 | TGACCA | T | intron_variant | MODIFIER | NA18968.hp1 NA19057.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0052 |
3 | 342 | 0.0088 | -5 | c.209 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913301 | ATATAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
a0003a0004a0006 | a0003c0010a0004c0005a0006c0008 | a0003c0010t0016a0004c0005t0005a0006c0008t0006 | a0003c0010t0016g0168 a0003c0010t0016g0366 a0004c0005t0005g0106 others(10): Show |
13 | 386 | 0.0337 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913303 | ATATTT | A | intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 NA21309.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0002 | a0001c0004t0001g0200 a0002c0001t0002g0309 a0002c0001t0002g0310 |
3 | 386 | 0.0078 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32913308 | TTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(122): Show |
a0001a0008a0009others(2): Show | a0001c0002a0001c0004a0001c0016others(4): Show | a0001c0002t0001a0001c0002t0010a0001c0002t0017others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(119): Show |
125 | 386 | 0.3238 | -5 | c.156 others(24): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32972705 | TTTTTC | T | upstream_gene_variant | MODIFIER | HG02897.hp2 NA19057.hp2 NA19060.hp1 |
a0003a0006 | a0003c0003a0006c0008 | a0003c0003t0003a0006c0008t0006 | a0003c0003t0003g0003 a0006c0008t0006g0095 |
3 | 386 | 0.0078 | -5 | c.-83 others(14): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 748 | chr19 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101730231 | TTTTTG | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp2 others(31): Show |
a0001a0009a0012 | a0001c0001a0001c0002a0009c0019others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0015others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0094 a0001c0001t0001g0095 others(27): Show |
34 | 352 | 0.0966 | -5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101760022 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(80): Show |
a0001a0005a0008 | a0001c0001a0001c0009a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0027 others(75): Show |
83 | 352 | 0.2358 | -5 | c.181 others(24): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | GTATTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0108 others(49): Show |
78 | 410 | 0.1902 | -5 | c.340 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111173514 | CTCTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0048 a0001c0001t0002g0213 a0001c0001t0002g0214 others(33): Show |
56 | 410 | 0.1366 | -5 | c.630 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111177840 | CAGATT | C | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(70): Show |
103 | 410 | 0.2512 | -5 | c.714 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181546763 | TATAAG | T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(32): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 others(32): Show |
35 | 298 | 0.1175 | -5 | c.126 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181561806 | TTTTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01099.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0142 others(42): Show |
45 | 298 | 0.1510 | -5 | c.678 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181563785 | CTCATA | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0005 | a0001c0001t0001g0210 a0001c0001t0021g0183 a0001c0002t0005g0003 others(5): Show |
9 | 298 | 0.0302 | -5 | c.677 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181650784 | AAGAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01496.hp2 others(23): Show |
a0001a0007 | a0001c0002a0001c0010a0007c0015 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 others(22): Show |
26 | 298 | 0.0873 | -5 | c.238 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46692426 | TAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01106.hp2 others(3): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0005a0001c0001t0010a0001c0001t0044others(1): Show | a0001c0001t0005g0078 a0001c0001t0005g0097 a0001c0001t0010g0062 others(3): Show |
6 | 340 | 0.0177 | -5 | c.112 others(22): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 10/12 | chr22 | TogoVar | |||||||
CERS2_chr1_150960186_150979835 | 150969688 | GGTCTT | G | intron_variant | MODIFIER | HG01433.hp1 HG02451.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0063 a0001c0001t0006g0011 a0001c0001t0006g0026 |
11 | 382 | 0.0288 | -5 | c.-1- others(18): Show |
CERS2 | ENSG00000143418.20 | transcript | ENST00000368954.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100397461 | AAGGAG | A | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01361.hp1 others(15): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0011 | a0001c0001t0001a0001c0001t0013a0001c0003t0007others(3): Show | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0246 others(15): Show |
18 | 362 | 0.0497 | -5 | c.*52 others(16): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2933 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100403879 | CATTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
92 | 362 | 0.2541 | -5 | c.100 others(24): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100413510 | GACTAT | G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(63): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0119 others(63): Show |
66 | 362 | 0.1823 | -5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100458014 | GTACAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 others(144): Show |
147 | 362 | 0.4061 | -5 | c.846 others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100533479 | GTTCTT | G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01993.hp2 NA18948.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0271 a0001c0001t0002g0070 a0001c0001t0002g0071 others(5): Show |
8 | 362 | 0.0221 | -5 | c.-47 others(16): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 4530 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100533560 | CTCTTT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0109 a0001c0001t0002g0097 a0001c0001t0002g0099 others(5): Show |
8 | 362 | 0.0221 | -5 | c.-48 others(16): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 4611 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8215487 | AAAAAC | A | intron_variant | MODIFIER | HG01934.hp1 HG02451.hp1 HG02572.hp2 others(4): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0002c0003t0008a0003c0004t0001 | a0002c0003t0001g0400 a0002c0003t0001g0401 a0002c0003t0001g0411 others(4): Show |
7 | 418 | 0.0168 | -5 | c.-2+ others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8224406 | CAAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01074.hp1 others(3): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0004c0005t0008 | a0001c0002t0001g0042 a0001c0002t0001g0098 a0001c0002t0001g0099 others(3): Show |
6 | 418 | 0.0144 | -5 | c.-2+ others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8245902 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02083.hp2 HG02258.hp2 others(11): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 others(11): Show |
14 | 418 | 0.0335 | -5 | c.-1- others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50140284 | ATTTTT | A | intron_variant | MODIFIER | HG01167.hp1 HG02965.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0220 a0001c0002t0002g0242 a0001c0002t0002g0245 others(3): Show |
6 | 320 | 0.0188 | -5 | c.493 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 4/9 | chr12 | TogoVar |