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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CELF1_chr11_47460937_47558132 | 47533635 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(243): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0018others(242): Show | 246 | 340 | 0.7235 | 8 | c.-15 others(29): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47545867 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01517.hp2 HG03239.hp1 NA18989.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0274a0001c0001t0002g0275a0001c0001t0002g0288others(2): Show | 5 | 340 | 0.0147 | 8 | c.-15 others(27): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47547065 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG02071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022a0001c0001t0001g0120a0001c0001t0001g0121others(16): Show | 19 | 340 | 0.0559 | 8 | c.-15 others(27): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11025207 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0036a0001c0001t0050others(1): Show | a0001c0001t0002g0172a0001c0001t0036g0016a0001c0001t0050g0173others(2): Show | 5 | 194 | 0.0258 | 8 | c.74+ others(23): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11025231 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02074.hp1 HG02129.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0183a0001c0001t0012g0079a0001c0002t0001g0184others(1): Show | 4 | 194 | 0.0206 | 8 | c.74+ others(23): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11054489 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00673.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0036others(4): Show | a0001c0001t0001g0104a0001c0001t0001g0161a0001c0001t0004g0138others(7): Show | 10 | 194 | 0.0516 | 8 | c.74+ others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11054507 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0001t0020a0001c0002t0001others(11): Show | a0001c0001t0010g0015a0001c0001t0020g0036a0001c0002t0001g0033others(11): Show | 14 | 194 | 0.0722 | 8 | c.74+ others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11106207 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00621.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0030a0001c0001t0001g0092a0001c0001t0001g0168others(38): Show | 41 | 194 | 0.2113 | 8 | c.75- others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11148843 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02451.hp2 HG02523.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0012a0001c0004t0030 | a0001c0001t0001g0183a0001c0004t0012g0182a0001c0004t0030g0063 | 3 | 194 | 0.0155 | 8 | c.75- others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11197083 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03139.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0047 | a0001c0002t0002g0068a0001c0004t0047g0156 | 2 | 194 | 0.0103 | 8 | c.272 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11202901 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02897.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0010a0001c0004t0010 | a0001c0001t0010g0015a0001c0004t0010g0019 | 2 | 194 | 0.0103 | 8 | c.272 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11224364 | G | GGGATGGT others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0022a0001c0002t0002 | a0001c0001t0019g0051a0001c0001t0022g0017a0001c0002t0002g0049 | 3 | 194 | 0.0155 | 8 | c.354 others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11280982 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0028 | a0001c0001t0026g0065a0001c0001t0028g0192 | 2 | 194 | 0.0103 | 8 | c.841 others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11280989 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01099.hp2 HG01255.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0121a0001c0001t0001g0189a0001c0001t0003g0038others(16): Show | 19 | 194 | 0.0979 | 8 | c.841 others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11285826 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01258.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0030a0001c0002t0003g0165a0001c0002t0004g0120others(1): Show | 4 | 194 | 0.0206 | 8 | c.842 others(25): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF3_chr1_151695058_151721803 | 151696461 | T | TTTTCTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01175.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0001a0001c0001t0003g0003a0001c0001t0003g0009others(14): Show | 32 | 432 | 0.0741 | 8 | c.*69 others(19): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3596 | chr1 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696490 | T | TTTCTTTC others(1): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 NA18947.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0022others(1): Show | 9 | 432 | 0.0208 | 8 | c.*69 others(19): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3567 | chr1 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151696498 | T | TTTCTTTC others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01261.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0071a0001c0001t0003g0015others(4): Show | 9 | 432 | 0.0208 | 8 | c.*69 others(19): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 3559 | chr1 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37247339 | T | TAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01496.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(14): Show | a0001c0001t0006g0004a0001c0001t0006g0005a0001c0001t0006g0016others(29): Show | 32 | 184 | 0.1739 | 8 | c.*45 others(25): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37338759 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0065a0001c0001t0001g0084a0001c0001t0001g0089others(46): Show | 49 | 184 | 0.2663 | 8 | c.370 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37342233 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0155a0001c0002t0003g0107 | 2 | 184 | 0.0109 | 8 | c.370 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37343329 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0032 | a0001c0001t0018g0030a0001c0002t0032g0023 | 2 | 184 | 0.0109 | 8 | c.370 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37380792 | A | AATCCATC others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0011 | a0001c0002t0005g0184a0001c0002t0011g0175 | 2 | 184 | 0.0109 | 8 | c.370 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37414191 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG02129.hp2 HG03579.hp2 NA19065.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0004 | a0001c0001t0001g0117a0001c0001t0005g0091a0001c0002t0004g0038 | 3 | 184 | 0.0163 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37423064 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0050a0001c0001t0001g0071a0001c0001t0001g0075others(51): Show | 54 | 184 | 0.2935 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37441273 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0015 | a0001c0001t0004g0014a0001c0001t0012g0026a0001c0001t0015g0039 | 3 | 184 | 0.0163 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37444617 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02155.hp2 HG02523.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0083a0001c0001t0003g0051a0001c0001t0005g0091others(6): Show | 9 | 184 | 0.0489 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37470836 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03225.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0059a0001c0001t0007g0120a0001c0001t0011g0058 | 3 | 184 | 0.0163 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37470890 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0136a0001c0001t0008g0137 | 2 | 184 | 0.0109 | 8 | c.369 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37547160 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0001g0182a0001c0001t0008g0125a0001c0001t0008g0136others(4): Show | 7 | 184 | 0.0380 | 8 | c.286 others(27): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226440 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01123.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0255others(12): Show | 15 | 262 | 0.0573 | 8 | c.259 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3228915 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052a0001c0001t0001g0124a0001c0001t0002g0054 | 3 | 262 | 0.0115 | 8 | c.259 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3230077 | C | CTCATTCA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02083.hp1 HG02132.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0165a0001c0001t0001g0197others(9): Show | 12 | 262 | 0.0458 | 8 | c.259 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3235646 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01175.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0132a0001c0001t0002g0002a0001c0001t0003g0127others(13): Show | 16 | 262 | 0.0611 | 8 | c.259 others(27): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248853 | T | TCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00735.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0132a0001c0001t0001g0161a0001c0001t0001g0167others(15): Show | 18 | 262 | 0.0687 | 8 | c.260 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3248905 | C | CCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18943.hp1 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0002g0158a0001c0001t0002g0159others(1): Show | 4 | 262 | 0.0153 | 8 | c.260 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CELF5_chr19_3219661_3302076 | 3300112 | A | AGATTGAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0145a0001c0001t0002g0253a0001c0001t0002g0254others(1): Show | 4 | 262 | 0.0153 | 8 | c.*33 others(19): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 3037 | chr19 | TogoVar | ||||||
CELF6_chr15_72279727_72325157 | 72325145 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 HG02280.hp1 HG02922.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0031others(4): Show | 11 | 300 | 0.0367 | 8 | c.-52 others(19): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 4989 | chr15 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46420315 | T | TGTGCACT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG02486.hp1 others(13): Show |
a0001a0002a0008others(11): Show | a0001c0034a0002c0012a0002c0016others(13): Show | a0001c0034t0001a0002c0012t0003a0002c0016t0003others(13): Show | a0001c0034t0001g0058a0002c0012t0003g0012a0002c0016t0003g0025others(13): Show | 16 | 104 | 0.1539 | 8 | c.461 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46422766 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG02735.hp2 others(1): Show |
a0004a0006a0020others(1): Show | a0004c0003a0006c0017a0020c0043others(1): Show | a0004c0003t0015a0006c0017t0001a0020c0043t0001others(1): Show | a0004c0003t0015g0010a0006c0017t0001g0018a0020c0043t0001g0052others(1): Show | 4 | 104 | 0.0385 | 8 | c.461 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46460205 | A | ACCCACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp1 others(28): Show |
a0001a0004a0007others(8): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(14): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(28): Show | 31 | 104 | 0.2981 | 8 | c.418 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46460211 | A | ACACACCC others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 |
a0002a0024 | a0002c0051a0024c0021 | a0002c0051t0003a0024c0021t0001 | a0002c0051t0003g0053a0024c0021t0001g0061 | 2 | 104 | 0.0192 | 8 | c.418 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46474788 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00639.hp1 others(36): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(25): Show | a0001c0001t0001g0037a0001c0001t0001g0041a0001c0001t0001g0043others(36): Show | 39 | 104 | 0.3750 | 8 | c.354 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46523527 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG02055.hp1 others(9): Show |
a0002a0003a0005others(7): Show | a0002c0016a0003c0005a0003c0015others(9): Show | a0002c0016t0003a0003c0005t0002a0003c0015t0001others(9): Show | a0002c0016t0003g0025a0003c0005t0002g0065a0003c0015t0001g0022others(9): Show | 12 | 104 | 0.1154 | 8 | c.354 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46531185 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(9): Show |
a0001a0008a0014others(2): Show | a0001c0001a0001c0002a0008c0033others(3): Show | a0001c0001t0001a0001c0002t0001a0008c0033t0002others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0001t0001g0049others(9): Show | 12 | 104 | 0.1154 | 8 | c.354 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR2_chr1_109244539_109280751 | 109244957 | A | AGGATGGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(73): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0003a0001c0013others(19): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0009others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0081others(57): Show | 76 | 356 | 0.2135 | 8 | c.-51 others(19): Show |
CELSR2 | ENSG00000143126.8 | transcript | ENST00000271332.4 | protein_coding | 4581 | chr1 | TogoVar | ||||||
CEL_chr9_133056981_133076861 | 133062705 | C | CACCTACC others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01257.hp2 HG01258.hp1 others(43): Show |
a0001a0002a0003others(23): Show | a0001c0204a0002c0002a0003c0163others(37): Show | a0001c0204t0001a0002c0002t0001a0003c0163t0001others(37): Show | a0001c0204t0001g0015a0002c0002t0001g0023a0003c0163t0001g0088others(41): Show | 46 | 416 | 0.1106 | 8 | c.66+ others(21): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEMIP2_chr9_71678366_71773513 | 71683549 | C | CACACTCA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02056.hp2 HG02071.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0002c0007others(7): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0020others(15): Show | a0001c0001t0007g0094a0001c0001t0007g0213a0001c0001t0007g0221others(27): Show | 30 | 320 | 0.0938 | 8 | c.*16 others(19): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 24/24 | 1647 | chr9 | TogoVar | |||||
CEMIP2_chr9_71678366_71773513 | 71687462 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0038others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(24): Show | a0001c0001t0001g0106a0001c0001t0001g0115a0001c0001t0001g0143others(78): Show | 81 | 320 | 0.2531 | 8 | c.385 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 22/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71692365 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02132.hp2 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0007others(9): Show | a0001c0001t0002a0001c0001t0029a0002c0002t0017others(13): Show | a0001c0001t0002g0300a0001c0001t0029g0013a0002c0002t0017g0042others(26): Show | 29 | 320 | 0.0906 | 8 | c.369 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar |