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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLEC4G_chr19_7723957_7737110 | 7734862 | C | CGGGGG | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01257.hp1 others(31): Show |
a0001a0002a0006 | a0001c0001a0002c0006a0006c0007 | a0001c0001t0001a0002c0006t0001a0006c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(3): Show | 34 | 432 | 0.0787 | 5 | c.-27 others(16): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 2753 | chr19 | TogoVar | ||||||
CLEC5A_chr7_141922357_141951974 | 141934622 | T | TTTTTG | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01981.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 | 13 | 386 | 0.0337 | 5 | c.345 others(22): Show |
CLEC5A | ENSG00000258227.7 | transcript | ENST00000546910.6 | protein_coding | 5/6 | chr7 | TogoVar | ||||||
CLEC6A_chr12_8450962_8483330 | 8455116 | G | GATTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0004a0006 | a0001c0001a0004c0005a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(85): Show | 241 | 334 | 0.7216 | 5 | c.-99 others(14): Show |
CLEC6A | ENSG00000205846.4 | transcript | ENST00000382073.4 | protein_coding | 845 | chr12 | TogoVar | ||||||
CLEC7A_chr12_10111777_10135199 | 10117530 | C | CAAAAA | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp1 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0004g0005a0001c0001t0004g0010a0001c0001t0004g0065others(44): Show | 80 | 450 | 0.1778 | 5 | c.*92 others(14): Show |
CLEC7A | ENSG00000172243.18 | transcript | ENST00000304084.13 | protein_coding | 6/6 | 927 | chr12 | TogoVar | |||||
CLEC7A_chr12_10111777_10135199 | 10128244 | A | ACACAC | intron_variant | MODIFIER | HG02074.hp1 HG02723.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0095a0001c0001t0008g0074a0001c0001t0008g0075 | 3 | 450 | 0.0067 | 5 | c.104 others(20): Show |
CLEC7A | ENSG00000172243.18 | transcript | ENST00000304084.13 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55187279 | C | CAAATA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01074.hp2 others(71): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0012a0002c0001others(7): Show | a0001c0002t0002a0001c0002t0031a0001c0012t0003others(14): Show | a0001c0002t0002g0016a0001c0002t0002g0309a0001c0002t0002g0333others(65): Show | 74 | 404 | 0.1832 | 5 | c.100 others(24): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
CLHC1_chr2_55167547_55237293 | 55200225 | T | TAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(39): Show |
a0001a0003 | a0001c0004a0001c0018a0003c0003 | a0001c0004t0006a0001c0004t0015a0001c0004t0016others(5): Show | a0001c0004t0006g0005a0001c0004t0006g0006a0001c0004t0006g0007others(36): Show | 42 | 404 | 0.1040 | 5 | c.100 others(24): Show |
CLHC1 | ENSG00000162994.16 | transcript | ENST00000401408.6 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
CLIC2_chrX_155271211_155339614 | 155281002 | T | TATATA | intron_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | 5 | c.294 others(20): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 3/5 | chrX | TogoVar | ||||||
CLIC4_chr1_24740447_24849321 | 24820062 | A | AAGTAT | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0330a0001c0001t0004g0331a0001c0001t0004g0333others(7): Show | 10 | 344 | 0.0291 | 5 | c.308 others(22): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 45979951 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(71): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0132others(71): Show | 74 | 340 | 0.2177 | 5 | c.64- others(22): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34694135 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0011a0001c0003t0075a0001c0003t0081others(5): Show | a0001c0003t0011g0121a0001c0003t0075g0120a0001c0003t0081g0280others(5): Show | 8 | 312 | 0.0256 | 5 | c.137 others(26): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLIC6_chr21_34663994_34723223 | 34701308 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001a0003a0006 | a0001c0003a0001c0012a0003c0005others(2): Show | a0001c0003t0014a0001c0012t0025a0003c0005t0051others(2): Show | a0001c0003t0014g0129a0001c0012t0025g0196a0003c0005t0051g0027others(2): Show | 6 | 312 | 0.0192 | 5 | c.137 others(24): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CLIC6_chr21_34663994_34723223 | 34718631 | A | AAAATG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01175.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0081others(2): Show | a0001c0001t0002g0162a0001c0001t0002g0170a0001c0001t0002g0209others(4): Show | 7 | 312 | 0.0224 | 5 | c.*21 others(16): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 409 | chr21 | TogoVar | ||||||
CLIC6_chr21_34663994_34723223 | 34718687 | C | CAAAAT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00735.hp1 others(33): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0029others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(14): Show | a0001c0001t0002g0013a0001c0001t0002g0081a0001c0001t0002g0151others(31): Show | 36 | 312 | 0.1154 | 5 | c.*22 others(16): Show |
CLIC6 | ENSG00000159212.13 | transcript | ENST00000349499.3 | protein_coding | 465 | chr21 | TogoVar | ||||||
CLINT1_chr5_157780747_157864145 | 157812149 | A | AAGCAG | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01109.hp2 others(66): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0040a0001c0001t0003g0017a0001c0001t0003g0018others(66): Show | 69 | 340 | 0.2029 | 5 | c.517 others(20): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
CLINT1_chr5_157780747_157864145 | 157860634 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0011a0001c0004t0003 | a0001c0001t0003g0048a0001c0001t0003g0070a0001c0001t0003g0078others(4): Show | 7 | 340 | 0.0206 | 5 | c.-16 others(16): Show |
CLINT1 | ENSG00000113282.14 | transcript | ENST00000411809.7 | protein_coding | 1490 | chr5 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122267207 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0022 | a0001c0001t0006g0221a0001c0001t0006g0222a0001c0001t0014g0089others(2): Show | 5 | 234 | 0.0214 | 5 | c.*56 others(16): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 4261 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122337462 | G | GAAAGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0163a0001c0001t0001g0167a0001c0001t0001g0174others(186): Show | 189 | 234 | 0.8077 | 5 | c.245 others(22): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 11/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122389758 | C | CAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp1 others(17): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0007a0001c0001t0012others(1): Show | a0001c0001t0004g0003a0001c0001t0004g0005a0001c0001t0004g0014others(17): Show | 20 | 234 | 0.0855 | 5 | c.-10 others(24): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122397553 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0167a0001c0001t0001g0174a0001c0001t0001g0195others(20): Show | 23 | 234 | 0.0983 | 5 | c.-10 others(26): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122426394 | G | GTTGTT | upstream_gene_variant | MODIFIER | NA18941.hp2 NA18955.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086a0002c0002t0001g0093a0002c0002t0001g0137 | 3 | 234 | 0.0128 | 5 | c.-39 others(16): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 3726 | chr12 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74287154 | G | GTCCCA | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0007t0010 | a0001c0001t0006g0014a0001c0001t0006g0016a0001c0001t0006g0017others(2): Show | 5 | 278 | 0.0180 | 5 | c.-26 others(16): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2252 | chr7 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74310036 | C | CAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp2 HG02004.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0036a0001c0001t0001g0143others(9): Show | 12 | 278 | 0.0432 | 5 | c.-67 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLIP2_chr7_74284407_74410935 | 74332460 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0104a0001c0001t0001g0268a0001c0001t0001g0270others(99): Show | 102 | 278 | 0.3669 | 5 | c.122 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLIP2_chr7_74284407_74410935 | 74336069 | A | ATTATT | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 |
a0001 | a0001c0019a0001c0020 | a0001c0019t0007a0001c0020t0006 | a0001c0019t0007g0142a0001c0020t0006g0267 | 2 | 278 | 0.0072 | 5 | c.122 others(22): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLIP4_chr2_29110415_29188808 | 29133603 | T | TTGGAA | intron_variant | MODIFIER | HG02155.hp1 HG02970.hp2 HG03453.hp2 others(9): Show |
a0001a0006 | a0001c0002a0006c0024 | a0001c0002t0001a0001c0002t0007a0006c0024t0001 | a0001c0002t0001g0003a0001c0002t0001g0062a0001c0002t0001g0063others(8): Show | 12 | 292 | 0.0411 | 5 | c.368 others(18): Show |
CLIP4 | ENSG00000115295.21 | transcript | ENST00000320081.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CLK1_chr2_200848009_200869658 | 200858842 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(115): Show | 265 | 418 | 0.6340 | 5 | c.549 others(20): Show |
CLK1 | ENSG00000013441.17 | transcript | ENST00000321356.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
CLK4_chr5_178597664_178632050 | 178627217 | A | AGCGCC | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01346.hp2 NA18943.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0050others(5): Show | 8 | 384 | 0.0208 | 5 | c.-27 others(14): Show |
CLK4 | ENSG00000113240.14 | transcript | ENST00000316308.9 | protein_coding | 168 | chr5 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95243719 | A | ATTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(34): Show | a0001c0001t0001g0056a0001c0001t0001g0096a0001c0001t0001g0098others(51): Show | 58 | 276 | 0.2101 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95245330 | A | AATGTT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0056a0001c0001t0001g0096a0001c0001t0001g0098others(60): Show | 67 | 276 | 0.2428 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95247113 | A | AGCTCT | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG00738.hp1 others(64): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(37): Show | a0001c0001t0001g0056a0001c0001t0001g0096a0001c0001t0001g0098others(60): Show | 67 | 276 | 0.2428 | 5 | c.83- others(22): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMN_chr14_95176940_95324908 | 95319928 | C | CGGGCG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00621.hp2 others(36): Show |
a0001a0010 | a0001c0002a0001c0005a0001c0013others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0007a0001c0002t0001g0008a0001c0002t0001g0009others(36): Show | 39 | 276 | 0.1413 | 5 | c.-13 others(14): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 21 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123074173 | C | CTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01943.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0015a0002c0002t0018others(4): Show | a0002c0002t0009g0037a0002c0002t0009g0067a0002c0002t0009g0076others(12): Show | 15 | 254 | 0.0591 | 5 | c.822 others(20): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 6/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123125504 | C | CTCCCT | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0045others(32): Show | 35 | 254 | 0.1378 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123128035 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp2 HG01952.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0002g0189a0001c0001t0002g0247a0001c0001t0005g0104others(5): Show | 8 | 254 | 0.0315 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123131607 | T | TTTTTC | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(50): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0039a0001c0001t0001g0058a0001c0001t0002g0189others(50): Show | 53 | 254 | 0.2087 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123131618 | T | TTTTCC | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0021 | a0001c0001t0003g0113a0001c0001t0014g0125a0001c0001t0021g0222 | 3 | 254 | 0.0118 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123134660 | A | AAAAGT | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp2 others(81): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(81): Show | 84 | 254 | 0.3307 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123135259 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01070.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(49): Show | 52 | 254 | 0.2047 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123141173 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp2 HG01192.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0053a0001c0001t0003g0135a0001c0001t0003g0138others(8): Show | 11 | 254 | 0.0433 | 5 | c.29- others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150532 | G | GAAGGC | intron_variant | MODIFIER | HG02129.hp1 NA18954.hp1 NA18959.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(2): Show | a0001c0001t0002g0202a0001c0001t0004g0109a0001c0001t0020g0249others(3): Show | 6 | 254 | 0.0236 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150534 | A | AGGAAG | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0001g0052a0001c0001t0002g0196others(2): Show | 5 | 254 | 0.0197 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123171427 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0017others(84): Show | 87 | 254 | 0.3425 | 5 | c.28+ others(22): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28474267 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0258a0001c0001t0004g0013 | 4 | 360 | 0.0111 | 5 | c.*32 others(16): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 3011 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28478617 | T | TAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp2 HG02071.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0028a0001c0001t0001g0100a0001c0001t0001g0102others(7): Show | 12 | 360 | 0.0333 | 5 | c.105 others(22): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN3_chr16_28472279_28497074 | 28479590 | A | AAAAAC | intron_variant | MODIFIER | HG02165.hp1 NA18952.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0101a0001c0001t0001g0108 | 4 | 360 | 0.0111 | 5 | c.105 others(24): Show |
CLN3 | ENSG00000188603.22 | transcript | ENST00000636147.2 | protein_coding | 14/15 | chr16 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68202807 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00438.hp2 HG02572.hp1 HG02965.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0036a0001c0001t0004g0038a0001c0001t0004g0104others(5): Show | 11 | 324 | 0.0340 | 5 | c.*53 others(16): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 4184 | chr15 | TogoVar | ||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGGGAG | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02145.hp2 others(29): Show |
a0001a0007 | a0001c0001a0001c0008a0007c0011 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0105a0001c0001t0002g0107a0001c0001t0002g0108others(23): Show | 32 | 324 | 0.0988 | 5 | c.-18 others(14): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | ||||||
CLN8_chr8_1758789_1791570 | 1763601 | G | GCGCCC | upstream_gene_variant | MODIFIER | HG01071.hp1 HG02109.hp2 HG02572.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0029others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0026others(6): Show | 11 | 413 | 0.0266 | 5 | c.-40 others(14): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 187 | chr8 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10531410 | C | CTATTT | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0050a0001c0001t0004g0143a0001c0001t0004g0161others(1): Show | 4 | 320 | 0.0125 | 5 | c.630 others(20): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 12/18 | chr4 | TogoVar |