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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRMP1_chr4_5815764_5898086 | 5837664 | A | AAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02109.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0011a0001c0003t0001a0001c0014t0001others(2): Show | a0001c0002t0011g0265 a0001c0003t0001g0068 a0001c0003t0001g0181 others(6): Show |
9 | 312 | 0.0288 | 9 | c.131 others(26): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5891213 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04204.hp1 NA18975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0161 a0001c0001t0003g0162 a0001c0002t0001g0160 |
3 | 304 | 0.0099 | 9 | c.381 others(26): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985260 | A | ACACACCC others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01952.hp1 NA18984.hp1 others(1): Show |
a0001a0006a0011 | a0001c0001a0006c0006a0011c0044 | a0001c0001t0002a0006c0006t0001a0011c0044t0002 | a0001c0001t0002g0343 a0006c0006t0001g0033 a0006c0006t0001g0095 others(1): Show |
4 | 348 | 0.0115 | 9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985308 | A | ACACACCC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02109.hp1 others(12): Show |
a0001a0005a0010others(3): Show | a0001c0001a0001c0024a0001c0060others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0024t0002others(8): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 others(12): Show |
15 | 338 | 0.0444 | 9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985436 | A | ACACACCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(103): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0020a0002c0002others(36): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0002g0266 a0001c0001t0003g0004 a0001c0001t0003g0009 others(103): Show |
106 | 348 | 0.3046 | 9 | c.455 others(28): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC_chr1_16916931_16977964 | 16947468 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001a0002a0010others(3): Show | a0001c0002a0001c0019a0002c0006others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0011others(7): Show | a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0202 others(16): Show |
22 | 164 | 0.1341 | 9 | c.251 others(26): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CROT_chr7_87340664_87404794 | 87344943 | C | CCCAAGCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(204): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(152): Show |
207 | 280 | 0.7393 | 9 | c.-93 others(18): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 720 | chr7 | TogoVar | |||||||
CROT_chr7_87340664_87404794 | 87345727 | T | TGCGGCAG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02257.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0031 others(9): Show |
17 | 280 | 0.0607 | 9 | c.-14 others(18): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 1/18 | 3327 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CROT_chr7_87340664_87404794 | 87349545 | G | GAATACAT others(2): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19011.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 |
3 | 280 | 0.0107 | 9 | c.115 others(24): Show |
CROT | ENSG00000005469.12 | transcript | ENST00000331536.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389913 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01255.hp2 HG02257.hp2 others(8): Show |
a0002 | a0002c0002a0002c0004a0002c0009 | a0002c0002t0013a0002c0002t0041a0002c0002t0047others(6): Show | a0002c0002t0013g0266 a0002c0002t0013g0267 a0002c0002t0013g0268 others(8): Show |
11 | 192 | 0.0573 | 9 | c.535 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 97919771 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02071.hp2 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0102 others(16): Show |
19 | 72 | 0.2639 | 9 | c.559 others(26): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 4/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATTTTT others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002 | a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0004t0001g0106 others(2): Show |
5 | 69 | 0.0725 | 9 | c.224 others(26): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98029488 | A | AGCGGCGG others(2): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02027.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 others(14): Show |
17 | 196 | 0.0867 | 9 | c.24+ others(22): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CRTAC1_chr10_97860000_98035621 | 98029491 | A | AGCGGCGG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 others(19): Show |
22 | 150 | 0.1467 | 9 | c.24+ others(22): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122875436 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01433.hp2 others(9): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0008a0006c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(7): Show |
12 | 373 | 0.0322 | 9 | c.*40 others(20): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2794 | chr11 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG01943.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0005t0001 | a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0008g0001 others(2): Show |
6 | 303 | 0.0198 | 9 | c.*40 others(20): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18727580 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0014 | a0001c0001t0001g0022 a0001c0001t0001g0073 a0001c0001t0001g0123 others(4): Show |
7 | 103 | 0.0680 | 9 | c.127 others(28): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0122 a0001c0001t0005g0129 a0001c0001t0009g0147 others(6): Show |
9 | 99 | 0.0909 | 9 | c.127 others(28): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90622813 | T | TCAAGGTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0024a0001c0001t0035 | a0001c0001t0010g0030 a0001c0001t0010g0034 a0001c0001t0010g0140 others(2): Show |
5 | 274 | 0.0182 | 9 | c.750 others(26): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 9/14 | chr15 | TogoVar | |||||||
CRX_chr19_47816937_47848324 | 47832105 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00642.hp2 others(47): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0035 others(45): Show |
50 | 208 | 0.2404 | 9 | c.-35 others(26): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01192.hp1 HG01346.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0001g0044 others(20): Show |
32 | 38 | 0.8421 | 9 | c.444 others(24): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218706 | G | GAGAGAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(105): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0002t0001a0004c0005t0001 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 others(46): Show |
108 | 462 | 0.2338 | 9 | c.-98 others(18): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 932 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAAAGAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01884.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0188 a0001c0001t0001g0204 others(2): Show |
7 | 173 | 0.0405 | 9 | c.-91 others(18): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00738.hp1 others(24): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0009a0001c0067others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0001g0024 a0001c0001t0001g0059 a0001c0001t0001g0086 others(24): Show |
27 | 126 | 0.2143 | 9 | c.174 others(28): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106566464 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03516.hp2 NA18522.hp1 others(2): Show |
a0005a0055 | a0005c0006a0055c0031 | a0005c0006t0003a0005c0006t0008a0055c0031t0008 | a0005c0006t0003g0079 a0005c0006t0003g0136 a0005c0006t0008g0175 others(2): Show |
5 | 62 | 0.0806 | 9 | c.630 others(28): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26333014 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp1 others(22): Show |
a0001a0005a0014others(1): Show | a0001c0003a0001c0019a0005c0006others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0019t0002others(3): Show | a0001c0003t0001g0024 a0001c0003t0001g0189 a0001c0003t0001g0238 others(20): Show |
25 | 105 | 0.2381 | 9 | c.418 others(28): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | |||||||
CRYGB_chr2_208137573_208151158 | 208145248 | G | GTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(106): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 others(18): Show |
109 | 281 | 0.3879 | 9 | c.252 others(24): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
CRYGC_chr2_208123137_208134828 | 208133789 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01934.hp2 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(1): Show |
19 | 329 | 0.0578 | 9 | c.-39 others(20): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 3962 | chr2 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20456638 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01168.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0064 others(22): Show |
25 | 135 | 0.1852 | 9 | c.277 others(28): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20515833 | A | AAAGTTCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01070.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0071 a0001c0001t0002g0022 a0001c0001t0002g0070 others(41): Show |
44 | 248 | 0.1774 | 9 | c.42- others(24): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33600932 | A | ATGTTTTT others(2): Show |
intron_variant | MODIFIER | HG04228.hp2 NA19065.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0219 a0001c0001t0002g0130 a0001c0001t0002g0301 |
3 | 163 | 0.0184 | 9 | c.577 others(26): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 8/12 | chr21 | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGAGA others(2): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 169 | 0.0118 | 9 | c.-51 others(18): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41562406 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01257.hp1 HG01258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(10): Show |
15 | 147 | 0.1020 | 9 | c.-12 others(28): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49065586 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01106.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0135 a0001c0001t0001g0140 others(26): Show |
29 | 118 | 0.2458 | 9 | c.229 others(24): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49085562 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01257.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 others(14): Show |
17 | 86 | 0.1977 | 9 | c.172 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01123.hp2 others(19): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0027 others(19): Show |
22 | 59 | 0.3729 | 9 | c.*15 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02647.hp1 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(4): Show | a0001c0001t0001g0243 a0001c0001t0005g0362 a0001c0001t0005g0363 others(13): Show |
17 | 127 | 0.1339 | 9 | c.49+ others(24): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19649819 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00738.hp1 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0110 a0001c0001t0001g0141 a0001c0001t0001g0206 others(22): Show |
25 | 41 | 0.6098 | 9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19676084 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG01517.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0017others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0024 others(10): Show |
13 | 153 | 0.0850 | 9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19701153 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0151 others(49): Show |
52 | 113 | 0.4602 | 9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19716612 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02698.hp2 HG04199.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0024 a0001c0001t0001g0083 a0001c0002t0002g0084 others(1): Show |
4 | 29 | 0.1379 | 9 | c.-39 others(30): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19755456 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02145.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0008 | a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0206 others(2): Show |
5 | 14 | 0.3571 | 9 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT2_chr10_43133445_43190302 | 43146963 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02523.hp1 HG03491.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0008 | a0001c0001t0001g0310 a0001c0001t0004g0284 a0001c0001t0004g0288 others(5): Show |
8 | 353 | 0.0227 | 9 | c.-25 others(28): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083649 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03669.hp1 |
a0001a0002 | a0001c0006a0002c0037 | a0001c0006t0002a0002c0037t0009 | a0001c0006t0002g0109 a0002c0037t0009g0046 |
2 | 117 | 0.0171 | 9 | c.747 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3155359 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03098.hp2 HG03209.hp1 others(1): Show |
a0001a0027a0030 | a0001c0020a0001c0073a0027c0110others(1): Show | a0001c0020t0018a0001c0073t0006a0027c0110t0074others(1): Show | a0001c0020t0018g0065 a0001c0073t0006g0108 a0027c0110t0074g0082 others(1): Show |
4 | 9 | 0.4444 | 9 | c.591 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 39/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3220150 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01123.hp2 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0007a0001c0020others(13): Show | a0001c0003t0008a0001c0007t0001a0001c0007t0032others(14): Show | a0001c0003t0008g0053 a0001c0007t0001g0035 a0001c0007t0032g0033 others(14): Show |
17 | 101 | 0.1683 | 9 | c.448 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 28/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3411819 | T | TATAAAAT others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001a0002a0007others(2): Show | a0001c0115a0002c0030a0002c0031others(5): Show | a0001c0115t0042a0002c0030t0018a0002c0031t0015others(5): Show | a0001c0115t0042g0055 a0002c0030t0018g0122 a0002c0031t0015g0001 others(5): Show |
8 | 126 | 0.0635 | 9 | c.156 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3439122 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02922.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0006a0001c0061a0002c0075others(3): Show | a0001c0006t0002a0001c0061t0001a0002c0075t0028others(3): Show | a0001c0006t0002g0109 a0001c0061t0001g0021 a0002c0075t0028g0051 others(3): Show |
6 | 83 | 0.0723 | 9 | c.156 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3561446 | C | CAGTCATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01934.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0005a0001c0021others(8): Show | a0001c0002t0061a0001c0005t0002a0001c0021t0005others(8): Show | a0001c0002t0061g0069 a0001c0005t0002g0111 a0001c0021t0005g0012 others(8): Show |
11 | 126 | 0.0873 | 9 | c.134 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3644966 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02683.hp1 HG02886.hp2 NA18522.hp1 others(2): Show |
a0001a0002a0006others(1): Show | a0001c0019a0001c0021a0002c0078others(2): Show | a0001c0019t0078a0001c0021t0005a0002c0078t0044others(2): Show | a0001c0019t0078g0105 a0001c0021t0005g0012 a0002c0078t0044g0064 others(2): Show |
5 | 62 | 0.0806 | 9 | c.101 others(30): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar |