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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 87136692 | A | AAATAT | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01099.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show |
5 | 152 | 0.0329 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136750 | A | AAATAT | intron_variant | MODIFIER | HG02965.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0092 a0001c0006t0001g0098 |
2 | 152 | 0.0132 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136798 | T | TAAATA | intron_variant | MODIFIER | HG01070.hp1 HG03579.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0083 a0003c0003t0001g0006 |
2 | 152 | 0.0132 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87136969 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 others(68): Show |
71 | 152 | 0.4671 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136995 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(70): Show |
73 | 152 | 0.4803 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87137083 | A | ATATAT | intron_variant | MODIFIER | HG02895.hp1 HG03486.hp1 HG04204.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0007c0011t0001 | a0001c0001t0001g0015 a0001c0001t0001g0058 a0007c0011t0001g0036 |
3 | 152 | 0.0197 | 5 | c.432 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87266436 | A | AATCTT | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01106.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0060 others(9): Show |
12 | 152 | 0.0790 | 5 | c.772 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | chr8 | TogoVar | |||||||
CNBD1_chr8_86861415_87387859 | 87352478 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0021 others(28): Show |
31 | 152 | 0.2040 | 5 | c.115 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87364470 | T | TTTTTA | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0002a0003c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0069 a0003c0003t0002g0007 others(2): Show |
5 | 152 | 0.0329 | 5 | c.130 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87368161 | A | AAAAAG | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02280.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0146 others(2): Show |
5 | 152 | 0.0329 | 5 | c.130 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87376638 | C | CTTTAA | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0007others(1): Show | a0001c0001t0002a0003c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0069 a0003c0003t0002g0007 others(2): Show |
5 | 152 | 0.0329 | 5 | c.130 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129164393 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(74): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0016 others(73): Show |
77 | 430 | 0.1791 | 5 | c.*60 others(16): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3433 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129168031 | T | TTTTAA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0012a0001c0002t0017a0001c0002t0023others(1): Show | a0001c0002t0012g0370 a0001c0002t0012g0371 a0001c0002t0012g0372 others(4): Show |
7 | 430 | 0.0163 | 5 | c.*24 others(16): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 5/5 | 2421 | chr3 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129174349 | T | TAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp2 HG02027.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0009a0001c0002t0013others(4): Show | a0001c0002t0005g0339 a0001c0002t0005g0344 a0001c0002t0005g0349 others(9): Show |
12 | 430 | 0.0279 | 5 | c.-14 others(22): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129181649 | C | CAAAAA | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0370 a0001c0002t0012g0371 a0001c0002t0012g0372 |
3 | 430 | 0.0070 | 5 | c.-15 others(22): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74543509 | C | CAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG01099.hp2 others(46): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0310 others(46): Show |
49 | 390 | 0.1256 | 5 | c.24+ others(20): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74558392 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0152 a0001c0001t0001g0218 a0001c0001t0001g0234 others(34): Show |
37 | 390 | 0.0949 | 5 | c.154 others(20): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74560010 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0143 a0001c0001t0001g0234 a0001c0001t0001g0237 others(123): Show |
128 | 390 | 0.3282 | 5 | c.303 others(20): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74570218 | T | TAATAA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01192.hp2 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0002t0004a0001c0005t0001others(10): Show | a0001c0001t0002g0325 a0001c0002t0004g0082 a0001c0005t0001g0351 others(11): Show |
14 | 390 | 0.0359 | 5 | c.757 others(20): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 6/11 | chr18 | TogoVar | |||||||
CNDP1_chr18_74529500_74592212 | 74579193 | C | CCCTTG | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01109.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0003a0003c0009others(3): Show | a0001c0006t0001a0002c0003t0003a0003c0009t0001others(4): Show | a0001c0006t0001g0285 a0002c0003t0003g0322 a0003c0009t0001g0044 others(5): Show |
8 | 390 | 0.0205 | 5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579198 | C | CCCTTG | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp2 HG01978.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(10): Show | a0001c0001t0001g0310 a0001c0001t0005g0347 a0001c0002t0002g0205 others(10): Show |
13 | 390 | 0.0333 | 5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579203 | G | GCCTTC | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01257.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0297 a0001c0001t0002g0001 a0001c0001t0002g0230 others(15): Show |
19 | 390 | 0.0487 | 5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579208 | C | CCCTTG | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG01952.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0005others(7): Show | a0001c0001t0002g0123 a0001c0002t0002g0363 a0001c0007t0005g0334 others(7): Show |
10 | 390 | 0.0256 | 5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74579213 | C | CCCTTG | intron_variant | MODIFIER | HG01257.hp1 HG02572.hp1 HG03195.hp1 others(1): Show |
a0001a0006a0011 | a0001c0042a0006c0011a0011c0049others(1): Show | a0001c0042t0011a0006c0011t0002a0011c0049t0011others(1): Show | a0001c0042t0011g0107 a0006c0011t0002g0328 a0011c0049t0011g0356 others(1): Show |
4 | 390 | 0.0103 | 5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74590277 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01168.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0005a0001c0001t0015a0001c0002t0005others(21): Show | a0001c0001t0005g0226 a0001c0001t0005g0347 a0001c0001t0005g0374 others(34): Show |
37 | 390 | 0.0949 | 5 | c.*57 others(16): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 3066 | chr18 | TogoVar | |||||||
CNDP2_chr18_74491363_74528454 | 74503073 | G | GTTTTT | intron_variant | MODIFIER | HG02004.hp2 HG02895.hp1 HG03209.hp1 others(7): Show |
a0001a0002a0012 | a0001c0003a0002c0002a0012c0014 | a0001c0003t0002a0001c0003t0023a0002c0002t0002others(3): Show | a0001c0003t0002g0036 a0001c0003t0002g0194 a0001c0003t0023g0036 others(7): Show |
10 | 424 | 0.0236 | 5 | c.204 others(22): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CNEP1R1_chr16_50020225_50042081 | 50037100 | C | CTTTAG | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(348): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(79): Show |
351 | 378 | 0.9286 | 5 | c.*16 others(16): Show |
CNEP1R1 | ENSG00000205423.12 | transcript | ENST00000427478.7 | protein_coding | 20 | chr16 | TogoVar | |||||||
CNGA3_chr2_98341456_98403601 | 98392574 | A | AAAAAG | intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0063 a0001c0001t0002g0079 a0001c0001t0002g0116 others(2): Show |
5 | 338 | 0.0148 | 5 | c.673 others(20): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNGA4_chr11_6234089_6249479 | 6247634 | G | GGTTTT | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18964.hp1 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 8 | 412 | 0.0194 | 5 | c.*32 others(16): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 3156 | chr11 | TogoVar | |||||||
CNGA4_chr11_6234089_6249479 | 6247634 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show |
376 | 412 | 0.9126 | 5 | c.*32 others(16): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 3156 | chr11 | TogoVar | |||||||
CNGA4_chr11_6234089_6249479 | 6247635 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG03098.hp2 HG03453.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0022 a0001c0002t0001g0002 |
3 | 412 | 0.0073 | 5 | c.*32 others(16): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 3157 | chr11 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57922427 | C | CTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG02055.hp2 HG02109.hp2 others(13): Show |
a0001a0002a0004others(5): Show | a0001c0015a0001c0016a0001c0027others(8): Show | a0001c0015t0001a0001c0015t0002a0001c0015t0020others(13): Show | a0001c0015t0001g0335 a0001c0015t0002g0006 a0001c0015t0020g0336 others(13): Show |
16 | 360 | 0.0444 | 5 | c.164 others(22): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 18/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57922431 | C | CTTTTT | intron_variant | MODIFIER | HG01934.hp1 HG02074.hp1 HG02080.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0017others(6): Show | a0001c0002t0001a0001c0003t0005a0001c0017t0001others(7): Show | a0001c0002t0001g0181 a0001c0003t0005g0300 a0001c0017t0001g0114 others(8): Show |
11 | 360 | 0.0306 | 5 | c.164 others(22): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 18/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57942028 | T | TGTTTG | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG03195.hp1 |
a0001a0002a0028 | a0001c0041a0002c0113a0028c0080 | a0001c0041t0005a0002c0113t0004a0028c0080t0015 | a0001c0041t0005g0028 a0002c0113t0004g0108 a0028c0080t0015g0188 |
3 | 360 | 0.0083 | 5 | c.112 others(24): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 14/32 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57971816 | C | CTTCCT | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02055.hp1 HG02109.hp2 others(5): Show |
a0001a0002a0013 | a0001c0007a0001c0015a0001c0016others(4): Show | a0001c0007t0008a0001c0015t0001a0001c0015t0020others(5): Show | a0001c0007t0008g0356 a0001c0015t0001g0335 a0001c0015t0020g0336 others(5): Show |
8 | 360 | 0.0222 | 5 | c.-76 others(14): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 689 | chr16 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86597981 | T | TAAATA | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02622.hp1 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0176 others(12): Show |
15 | 288 | 0.0521 | 5 | c.178 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86600776 | A | ATTTTT | intron_variant | MODIFIER | HG03209.hp2 NA18939.hp2 NA18942.hp2 others(8): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0006 | a0001c0001t0001a0003c0004t0002a0006c0006t0001 | a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0092 others(8): Show |
11 | 288 | 0.0382 | 5 | c.178 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86693432 | A | ATTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0015a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 others(97): Show |
100 | 288 | 0.3472 | 5 | c.339 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | |||||||
CNGB3_chr8_86569179_86748634 | 86735042 | G | GGTTTT | intron_variant | MODIFIER | HG01257.hp1 HG02148.hp2 HG02280.hp2 others(11): Show |
a0001a0004a0005 | a0001c0001a0001c0015a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 others(11): Show |
14 | 288 | 0.0486 | 5 | c.211 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
CNIH1_chr14_54418561_54446374 | 54429083 | A | ATTTTT | intron_variant | MODIFIER | HG03239.hp1 HG03704.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0054 |
3 | 382 | 0.0079 | 5 | c.407 others(22): Show |
CNIH1 | ENSG00000100528.12 | transcript | ENST00000216416.9 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
CNIH3_chr1_224611317_224745554 | 224744260 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01081.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0046 others(19): Show |
23 | 358 | 0.0643 | 5 | c.*49 others(16): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3707 | chr1 | TogoVar | |||||||
CNIH4_chr1_224351879_224384452 | 224382541 | T | TTTTGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(164): Show |
318 | 324 | 0.9815 | 5 | c.*67 others(16): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 3090 | chr1 | TogoVar | |||||||
CNKSR1_chr1_26172491_26194884 | 26186475 | G | GTTTGT | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02922.hp1 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0027 a0006c0008t0001g0131 |
4 | 372 | 0.0108 | 5 | c.130 others(22): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21452753 | C | CTTATT | intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG01884.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0158 others(19): Show |
22 | 163 | 0.1350 | 5 | c.519 others(24): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21484289 | T | TCAAAA | intron_variant | MODIFIER | HG01081.hp2 HG04199.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0030a0001c0002t0001 | a0001c0001t0003g0151 a0001c0001t0030g0086 a0001c0002t0001g0108 |
3 | 163 | 0.0184 | 5 | c.562 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21495783 | C | CAAAAA | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 163 | 0.0061 | 5 | c.682 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21512754 | T | TTTTTG | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG01884.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0003g0015 a0001c0001t0003g0024 a0001c0001t0009g0010 others(12): Show |
15 | 163 | 0.0920 | 5 | c.811 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21653273 | A | ATGAGC | 3_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 163 | 0.0061 | 5 | c.*75 others(14): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 22/22 | 757 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21655468 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02976.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0006a0001c0001t0010a0001c0006t0028others(1): Show | a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0001t0006g0161 others(5): Show |
8 | 163 | 0.0491 | 5 | c.*29 others(16): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 780 | chrX | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154382604 | C | CAGGGG | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(4): Show | a0001c0001t0001g0235 a0001c0001t0006g0107 a0001c0001t0006g0109 others(8): Show |
11 | 342 | 0.0322 | 5 | c.*23 others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4910 | chr6 | TogoVar |