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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMYA5_chr5_79684836_79805222 | 79709960 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02970.hp2 others(4): Show |
a0003a0019a0023others(3): Show | a0003c0003a0019c0024a0023c0022others(3): Show | a0003c0003t0001a0019c0024t0001a0023c0022t0001others(4): Show | a0003c0003t0001g0188a0019c0024t0001g0184a0023c0022t0001g0185others(4): Show | 7 | 358 | 0.0196 | -5 | c.150 others(24): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79720427 | AATTTT | A | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01099.hp1 others(25): Show |
a0001a0002a0003others(10): Show | a0001c0055a0002c0002a0002c0020others(14): Show | a0001c0055t0001a0002c0002t0001a0002c0002t0002others(22): Show | a0001c0055t0001g0116a0002c0002t0001g0129a0002c0002t0001g0253others(25): Show | 28 | 358 | 0.0782 | -5 | c.150 others(22): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
CMYA5_chr5_79684836_79805222 | 79722904 | AAAAAC | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(81): Show |
a0002a0004a0014others(12): Show | a0002c0002a0002c0020a0002c0106others(19): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(30): Show | a0002c0002t0001g0008a0002c0002t0001g0043a0002c0002t0001g0127others(81): Show | 84 | 358 | 0.2346 | -5 | c.150 others(22): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CMYA5_chr5_79684836_79805222 | 79791713 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(154): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0013a0001c0033others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(67): Show | a0001c0001t0001g0063a0001c0001t0001g0102a0001c0001t0001g0124others(154): Show | 157 | 358 | 0.4386 | -5 | c.117 others(24): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86884150 | TCAAAA | T | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0032others(2): Show | 5 | 152 | 0.0329 | -5 | c.89- others(20): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86894035 | ATTTTT | A | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0079a0001c0001t0001g0096a0001c0001t0001g0097others(3): Show | 6 | 152 | 0.0395 | -5 | c.158 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86938459 | TAAAGG | T | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG02258.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0081a0001c0001t0001g0087others(14): Show | 17 | 152 | 0.1118 | -5 | c.273 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86976187 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00642.hp1 others(33): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(33): Show | 36 | 152 | 0.2368 | -5 | c.431 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86986506 | CTTTAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp2 HG02622.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0037a0001c0001t0001g0039a0002c0002t0001g0083others(7): Show | 10 | 152 | 0.0658 | -5 | c.431 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87076394 | CTTAAA | C | intron_variant | MODIFIER | HG02630.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0146a0002c0002t0001g0085 | 2 | 152 | 0.0132 | -5 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87088131 | TTTAGA | T | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003a0001c0001t0003g0111a0001c0001t0004g0116others(2): Show | 5 | 152 | 0.0329 | -5 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87098733 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(70): Show | 73 | 152 | 0.4803 | -5 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87099056 | AAAAAC | A | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp1 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003a0001c0001t0003g0111a0001c0001t0004g0116others(2): Show | 5 | 152 | 0.0329 | -5 | c.432 others(26): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87118314 | CAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02486.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0003c0004t0001a0004c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0035others(7): Show | 10 | 152 | 0.0658 | -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 | 87136735 | ATATAT | A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0035others(10): Show | 13 | 152 | 0.0855 | -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 | 87136851 | ATATAT | A | intron_variant | MODIFIER | HG03516.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0112 | 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 | 87202200 | TTAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(57): Show | 60 | 152 | 0.3947 | -5 | c.432 others(22): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87206974 | CATTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0017others(46): Show | 49 | 152 | 0.3224 | -5 | c.577 others(20): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87258423 | ATTTCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(33): Show | 36 | 152 | 0.2368 | -5 | c.771 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87363649 | CTTCTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0001a0002c0005t0001a0003c0004t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(6): Show | 9 | 152 | 0.0592 | -5 | c.130 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87364497 | AATTTT | A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(41): Show | 44 | 152 | 0.2895 | -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 | AAAAAG | A | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00621.hp2 others(45): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0016others(45): Show | 48 | 152 | 0.3158 | -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 | 87377067 | CTTTAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(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 | |||||
CNBD1_chr8_86861415_87387859 | 87377085 | TATTTC | T | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0003a0005c0007others(1): Show | a0001c0001t0002a0004c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0069a0004c0003t0002g0007others(2): Show | 5 | 152 | 0.0329 | -5 | c.130 others(24): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | chr8 | TogoVar | ||||||
CNBD2_chr20_35963590_36035700 | 36017058 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02723.hp1 HG03471.hp2 others(3): Show |
a0001a0010a0014 | a0001c0001a0001c0004a0010c0016others(1): Show | a0001c0001t0002a0001c0004t0002a0010c0016t0002others(1): Show | a0001c0001t0002g0119a0001c0004t0002g0021a0001c0004t0002g0066others(3): Show | 6 | 268 | 0.0224 | -5 | c.126 others(24): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 36022195 | CTTTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG02109.hp1 HG02258.hp1 others(17): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0002others(4): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0020others(17): Show | 20 | 268 | 0.0746 | -5 | c.127 others(24): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129181239 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(259): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(224): Show | 262 | 430 | 0.6093 | -5 | c.-15 others(22): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74533228 | TTTAGA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0008others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(114): Show | a0001c0001t0001g0024a0001c0001t0001g0096a0001c0001t0001g0114others(314): Show | 321 | 390 | 0.8231 | -5 | c.-14 others(16): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 1271 | chr18 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74543499 | TAAAAC | T | intron_variant | MODIFIER | HG02818.hp1 HG03710.hp2 HG04199.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0004a0002c0003t0003 | a0001c0001t0003g0384a0001c0002t0004g0018a0002c0003t0003g0386 | 3 | 390 | 0.0077 | -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 | 74543509 | CAAAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00735.hp1 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0096a0001c0001t0001g0171a0001c0001t0001g0190others(69): Show | 72 | 390 | 0.1846 | -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 | 74579198 | CCCTTG | C | intron_variant | MODIFIER | HG01074.hp2 HG02647.hp2 HG02922.hp2 |
a0001a0003a0007 | a0001c0001a0003c0005a0007c0019 | a0001c0001t0001a0003c0005t0002a0007c0019t0002 | a0001c0001t0001g0096a0003c0005t0002g0090a0007c0019t0002g0056 | 3 | 390 | 0.0077 | -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 | GCCTTC | G | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03225.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0002t0013a0002c0004t0002others(2): Show | a0001c0001t0002g0381a0001c0002t0013g0317a0002c0004t0002g0111others(2): Show | 5 | 390 | 0.0128 | -5 | c.116 others(22): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CNGA1_chr4_47930977_48021681 | 47955173 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG02109.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0098a0001c0001t0002g0099a0001c0001t0002g0100others(21): Show | 24 | 366 | 0.0656 | -5 | c.-14 others(22): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47973205 | TTAAAG | T | intron_variant | MODIFIER | HG02559.hp1 HG02897.hp2 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0082a0001c0001t0003g0083others(1): Show | 4 | 366 | 0.0109 | -5 | c.-15 others(22): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 47986974 | ATTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00621.hp1 others(99): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014a0001c0001t0001g0204a0001c0001t0001g0205others(95): Show | 102 | 366 | 0.2787 | -5 | c.-12 others(24): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48009006 | GGTTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(138): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0011others(128): Show | 141 | 366 | 0.3853 | -5 | c.-12 others(24): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48012558 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0012others(94): Show | 105 | 366 | 0.2869 | -5 | c.-22 others(24): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 1/10 | chr4 | TogoVar | ||||||
CNGA3_chr2_98341456_98403601 | 98360996 | TTTTTA | T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01515.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0118a0001c0001t0001g0119 | 4 | 338 | 0.0118 | -5 | c.-37 others(22): Show |
CNGA3 | ENSG00000144191.12 | transcript | ENST00000272602.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNGB1_chr16_57877340_57976128 | 57880166 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(77): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(48): Show | a0001c0001t0002g0223a0001c0001t0002g0238a0001c0001t0002g0250others(76): Show | 80 | 360 | 0.2222 | -5 | c.*39 others(16): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2173 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57880482 | TTTTTC | T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG01169.hp1 others(33): Show |
a0001a0002a0004others(11): Show | a0001c0007a0001c0013a0001c0016others(25): Show | a0001c0007t0004a0001c0013t0004a0001c0013t0019others(29): Show | a0001c0007t0004g0046a0001c0013t0004g0308a0001c0013t0019g0213others(33): Show | 36 | 360 | 0.1000 | -5 | c.*36 others(16): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 1857 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57944343 | AAGGAG | A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02976.hp2 |
a0001a0004 | a0001c0007a0004c0014a0004c0044 | a0001c0007t0002a0004c0014t0005a0004c0044t0004 | a0001c0007t0002g0073a0004c0014t0005g0346a0004c0044t0004g0343 | 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 | 57948313 | CTTCTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01175.hp1 others(27): Show |
a0001a0003a0005others(9): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(21): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0040others(27): Show | 30 | 360 | 0.0833 | -5 | c.112 others(24): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 14/32 | chr16 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86595638 | TATCTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00735.hp1 others(79): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(17): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0001t0001g0085others(79): Show | 82 | 288 | 0.2847 | -5 | c.178 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86597981 | TAAATA | T | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00735.hp1 others(78): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(17): Show | a0001c0001t0001g0061a0001c0001t0001g0084a0001c0001t0001g0085others(78): Show | 81 | 288 | 0.2813 | -5 | c.178 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG00741.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0034a0001c0001t0001g0035others(16): Show | 19 | 288 | 0.0660 | -5 | c.178 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86693435 | ATTTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(8): Show | a0001c0001t0001g0152a0001c0001t0001g0160a0001c0001t0001g0163others(42): Show | 45 | 288 | 0.1563 | -5 | c.339 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86697057 | GGAAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(172): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0001c0016others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(172): Show | 175 | 288 | 0.6076 | -5 | c.339 others(24): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86735042 | GTTTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0220a0001c0001t0001g0221others(7): Show | 10 | 288 | 0.0347 | -5 | c.211 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224636245 | GTTTTC | G | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0028 | a0001c0001t0001g0263a0001c0001t0008g0021a0001c0001t0008g0022others(1): Show | 4 | 358 | 0.0112 | -5 | c.81+ others(22): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTT | G | intron_variant | MODIFIER | HG01069.hp1 HG02109.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0080a0001c0001t0001g0175a0001c0001t0001g0263others(4): Show | 7 | 358 | 0.0196 | -5 | c.82- others(20): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |