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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDON_chr11_125951821_126067866 | 125981970 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02280.hp2 HG02451.hp1 others(9): Show |
a0002a0008a0013others(2): Show | a0002c0013a0002c0014a0002c0019others(4): Show | a0002c0013t0002a0002c0014t0107a0002c0019t0012others(6): Show | a0002c0013t0002g0126 a0002c0014t0107g0326 a0002c0019t0012g0125 others(9): Show |
12 | 35 | 0.3429 | 9 | c.299 others(26): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 16/19 | chr11 | TogoVar | |||||||
CDR2L_chr17_74982632_75010800 | 74989410 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 NA18747.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 |
3 | 4 | 0.7500 | 9 | c.79+ others(24): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CDRT4_chr17_15431015_15472621 | 15435748 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01123.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0007 | a0001c0001t0001g0094 a0001c0001t0001g0117 a0001c0001t0001g0152 others(1): Show |
6 | 11 | 0.5455 | 9 | c.*20 others(20): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 266 | chr17 | TogoVar | |||||||
CDS1_chr4_84578127_84656334 | 84601172 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02735.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0032others(1): Show | a0001c0001t0001g0219 a0001c0001t0007g0052 a0001c0001t0007g0053 others(3): Show |
6 | 138 | 0.0435 | 9 | c.118 others(26): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133576841 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0002c0002t0002 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0067 others(4): Show |
9 | 102 | 0.0882 | 9 | c.317 others(26): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133594433 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp1 HG01167.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(6): Show |
14 | 23 | 0.6087 | 9 | c.*63 others(20): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 4173 | chr3 | TogoVar | |||||||
CDYL2_chr16_80592907_80809598 | 80672535 | A | AAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 HG03516.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0247 a0001c0001t0002g0020 a0001c0002t0003g0181 others(3): Show |
6 | 78 | 0.0769 | 9 | c.616 others(28): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4897790 | G | GTTTTGTT others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0206 a0001c0001t0002g0052 a0001c0001t0003g0118 others(5): Show |
8 | 68 | 0.1176 | 9 | c.691 others(26): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4897791 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02258.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(8): Show | a0001c0001t0001g0163 a0001c0001t0009g0165 a0001c0002t0002g0160 others(18): Show |
21 | 220 | 0.0955 | 9 | c.691 others(26): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM18_chr19_51473539_51496301 | 51475748 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01169.hp1 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0002a0005c0005t0004 | a0005c0005t0002g0026 a0005c0005t0002g0049 a0005c0005t0002g0094 others(1): Show |
6 | 291 | 0.0206 | 9 | c.-28 others(20): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 2790 | chr19 | TogoVar | |||||||
CEACAM19_chr19_44666482_44689355 | 44667788 | A | ATATATAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18522.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 a0001c0001t0002g0076 |
3 | 388 | 0.0077 | 9 | c.-41 others(20): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3693 | chr19 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44515218 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01081.hp1 others(39): Show |
a0001a0002a0004others(8): Show | a0001c0018a0002c0002a0004c0003others(12): Show | a0001c0018t0001a0002c0002t0001a0004c0003t0001others(12): Show | a0001c0018t0001g0198 a0002c0002t0001g0020 a0002c0002t0001g0228 others(32): Show |
42 | 190 | 0.2211 | 9 | c.130 others(28): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 6/11 | chr19 | TogoVar | |||||||
CEACAM5_chr19_41703626_41735433 | 41728786 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(50): Show |
a0001a0003a0008others(5): Show | a0001c0001a0001c0012a0001c0021others(7): Show | a0001c0001t0002a0001c0001t0008a0001c0012t0002others(8): Show | a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0023 others(34): Show |
53 | 252 | 0.2103 | 9 | c.*37 others(24): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CEACAM8_chr19_42575243_42599924 | 42581920 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01169.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
7 | 70 | 0.1000 | 9 | c.*41 others(24): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEBPD_chr8_47731913_47743164 | 47740915 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 |
15 | 113 | 0.1327 | 9 | c.-27 others(20): Show |
CEBPD | ENSG00000221869.5 | transcript | ENST00000408965.4 | protein_coding | 2752 | chr8 | TogoVar | |||||||
CEBPE_chr14_23112306_23124255 | 23120509 | T | TTGGGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG02735.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 456 | 0.0066 | 9 | c.-14 others(20): Show |
CEBPE | ENSG00000092067.7 | transcript | ENST00000206513.6 | protein_coding | 1255 | chr14 | TogoVar | |||||||
CEBPZOS_chr2_37191496_37209743 | 37193597 | A | AAAGAAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0001g0001 a0001c0001t0003g0006 a0001c0001t0006g0001 others(19): Show |
41 | 94 | 0.4362 | 9 | c.-29 others(20): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 2898 | chr2 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17400497 | C | CTTGAGAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0010a0001c0001t0016a0001c0001t0019others(5): Show | a0001c0001t0010g0198 a0001c0001t0010g0270 a0001c0001t0010g0271 others(7): Show |
10 | 322 | 0.0311 | 9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17403273 | T | TGTACCAG others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01884.hp2 HG02055.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0035 a0001c0001t0002g0160 a0001c0001t0010g0198 others(18): Show |
21 | 322 | 0.0652 | 9 | c.126 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17445543 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19043.hp1 NA19065.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0041a0002c0002t0026others(1): Show | a0001c0001t0004g0148 a0001c0001t0041g0315 a0002c0002t0026g0279 others(1): Show |
4 | 62 | 0.0645 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17447033 | C | CTGTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02647.hp1 HG02738.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0053 a0001c0001t0001g0227 a0001c0001t0002g0021 others(9): Show |
12 | 162 | 0.0741 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17466598 | C | CCTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18973.hp1 NA18973.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0023 a0001c0006t0004g0123 a0002c0002t0001g0175 others(1): Show |
4 | 249 | 0.0161 | 9 | c.127 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17516631 | T | TTTGCTGT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(13): Show |
a0001a0003a0013 | a0001c0001a0003c0003a0003c0025others(1): Show | a0001c0001t0003a0001c0001t0057a0003c0003t0001others(4): Show | a0001c0001t0003g0059 a0001c0001t0003g0176 a0001c0001t0057g0129 others(13): Show |
16 | 322 | 0.0497 | 9 | c.954 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525285 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01978.hp2 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0124 a0001c0001t0002g0219 a0001c0001t0006g0260 others(4): Show |
7 | 163 | 0.0429 | 9 | c.110 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17561603 | G | GGAAAAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0041others(3): Show | a0001c0001t0002g0096 a0001c0001t0002g0221 a0001c0001t0008g0085 others(9): Show |
12 | 322 | 0.0373 | 9 | c.*87 others(20): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 3453 | chr22 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51347994 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(24): Show |
a0001 | a0001c0004a0001c0007a0001c0009others(1): Show | a0001c0004t0002a0001c0007t0002a0001c0009t0002others(1): Show | a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 others(10): Show |
27 | 378 | 0.0714 | 9 | c.-13 others(20): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1316 | chr12 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22008152 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0003c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0020 others(25): Show |
87 | 180 | 0.4833 | 9 | c.642 others(24): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21972454 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
a0001a0013 | a0001c0001a0001c0003a0013c0019 | a0001c0001t0001a0001c0003t0001a0013c0019t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(35): Show |
85 | 237 | 0.3587 | 9 | c.-45 others(20): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4567 | chr1 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21983548 | A | AATGATGA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG03579.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0050 a0007c0009t0001g0135 a0007c0009t0001g0136 |
3 | 98 | 0.0306 | 9 | c.363 others(24): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47489935 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0122 a0001c0001t0002g0028 a0001c0001t0002g0030 others(5): Show |
8 | 75 | 0.1067 | 9 | c.72- others(22): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47547065 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG03491.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019 | a0001c0001t0001g0184 a0001c0001t0001g0199 a0001c0001t0001g0200 others(6): Show |
9 | 19 | 0.4737 | 9 | c.-15 others(28): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11032677 | C | CTTGGAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(21): Show | a0001c0001t0001g0031 a0001c0001t0001g0092 a0001c0001t0001g0097 others(47): Show |
50 | 192 | 0.2604 | 9 | c.74+ others(26): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11323424 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 others(27): Show |
30 | 72 | 0.4167 | 9 | c.129 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF3_chr1_151695058_151721803 | 151706246 | T | TTGCTGCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 HG02280.hp1 NA19043.hp1 |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0029 | 3 | 427 | 0.0070 | 9 | c.109 others(18): Show |
p.Gln others(13): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 10/13 | 1886/5582 | 1103/1398 | 368/465 | chr1 | TogoVar | |||
CELF4_chr18_37238040_37570798 | 37307772 | C | CTGCCCTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01109.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0001g0050 a0001c0001t0006g0016 a0001c0001t0006g0044 others(20): Show |
23 | 182 | 0.1264 | 9 | c.448 others(28): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37539073 | A | AACGCCCT others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0019 | a0001c0001t0004g0042 a0001c0001t0006g0041 a0001c0001t0019g0043 |
3 | 182 | 0.0165 | 9 | c.286 others(28): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3226476 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18906.hp1 NA18966.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0005 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0003g0061 others(1): Show |
4 | 252 | 0.0159 | 9 | c.259 others(26): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3299515 | C | CTCTTCTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01496.hp1 HG01993.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0084 a0001c0001t0001g0182 a0001c0001t0001g0190 others(8): Show |
11 | 70 | 0.1571 | 9 | c.*27 others(20): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2440 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373667 | A | AGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02922.hp1 others(1): Show |
a0002a0026 | a0002c0012a0002c0015a0002c0016others(1): Show | a0002c0012t0003a0002c0015t0001a0002c0016t0003others(1): Show | a0002c0012t0003g0012 a0002c0015t0001g0022 a0002c0016t0003g0025 others(1): Show |
4 | 101 | 0.0396 | 9 | c.758 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46373676 | T | TGGGGGAG others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03579.hp1 |
a0019a0027a0033 | a0019c0068a0027c0057a0033c0065 | a0019c0068t0005a0027c0057t0004a0033c0065t0002 | a0019c0068t0005g0001 a0027c0057t0004g0096 a0033c0065t0002g0103 |
3 | 95 | 0.0316 | 9 | c.758 others(26): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 24/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46422766 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
a0015a0028a0029others(2): Show | a0015c0044a0028c0021a0029c0064others(2): Show | a0015c0044t0001a0028c0021t0001a0029c0064t0002others(2): Show | a0015c0044t0001g0062 a0028c0021t0001g0061 a0029c0064t0002g0101 others(2): Show |
5 | 78 | 0.0641 | 9 | c.461 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46474788 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0020others(3): Show | a0001c0001a0002c0050a0020c0010others(3): Show | a0001c0001t0001a0002c0050t0003a0020c0010t0001others(3): Show | a0001c0001t0001g0087 a0002c0050t0003g0053 a0020c0010t0001g0007 others(3): Show |
6 | 27 | 0.2222 | 9 | c.354 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80817602 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01884.hp2 HG02004.hp2 others(11): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0148 others(11): Show |
14 | 45 | 0.3111 | 9 | c.-17 others(30): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533275 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 others(1): Show |
14 | 26 | 0.5385 | 9 | c.-22 others(20): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 1868 | chr16 | TogoVar | |||||||
CENATAC_chr11_118993138_119020793 | 119018675 | G | GGGAGGAG others(2): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
4 | 315 | 0.0127 | 9 | c.*30 others(20): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 2883 | chr11 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0002t0001g0021 |
6 | 115 | 0.0522 | 9 | c.-17 others(20): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881904 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG01981.hp1 HG02004.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0007a0001c0004t0001 | a0001c0002t0001g0151 a0001c0002t0007g0011 a0001c0002t0007g0233 others(4): Show |
7 | 437 | 0.0160 | 9 | c.*12 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 374 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881926 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 HG03704.hp2 HG04204.hp1 others(1): Show |
a0001a0019 | a0001c0002a0019c0023 | a0001c0002t0001a0019c0023t0001 | a0001c0002t0001g0006 a0001c0002t0001g0045 a0001c0002t0001g0158 others(1): Show |
4 | 438 | 0.0091 | 9 | c.*12 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 352 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882072 | A | ATATATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01081.hp1 others(17): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 a0002c0003t0003g0017 a0002c0003t0003g0018 others(15): Show |
20 | 410 | 0.0488 | 9 | c.*11 others(20): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 206 | chr13 | TogoVar | |||||||
CENPK_chr5_65512766_65568168 | 65514228 | A | ATATTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0269 a0001c0001t0001g0275 others(1): Show |
4 | 343 | 0.0117 | 9 | c.*42 others(20): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3537 | chr5 | TogoVar |