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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNGA4_chr11_6234089_6249479 | 6247043 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG02293.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0022 | 5 | 412 | 0.0121 | 22 | c.*26 others(33): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 2565 | chr11 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCTTTCCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0006 | 1 | 360 | 0.0028 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879788 | T | TCTTTCTT others(15): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19088.hp2 |
a0001a0003 | a0001c0029a0003c0008 | a0001c0029t0002a0003c0008t0002 | a0001c0029t0002g0034a0003c0008t0002g0120 | 2 | 360 | 0.0056 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2551 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02818.hp2 |
a0002a0006 | a0002c0005a0006c0087 | a0002c0005t0001a0006c0087t0001 | a0002c0005t0001g0316a0006c0087t0001g0211 | 2 | 360 | 0.0056 | 22 | c.*43 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57885557 | C | CCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02148.hp2 HG03471.hp1 |
a0001a0010 | a0001c0002a0010c0010 | a0001c0002t0003a0001c0002t0013a0010c0010t0003 | a0001c0002t0003g0113a0001c0002t0013g0041a0010c0010t0003g0030 | 3 | 360 | 0.0083 | 22 | c.346 others(41): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 32/32 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57973399 | A | ATGTGCAT others(15): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 HG04115.hp1 NA19067.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0009a0005c0100 | a0001c0001t0002a0001c0001t0017a0003c0009t0006others(1): Show | a0001c0001t0002g0250a0001c0001t0017g0225a0003c0009t0006g0289others(1): Show | 4 | 360 | 0.0111 | 22 | c.-23 others(33): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2272 | chr16 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21452756 | A | ATTTTATT others(15): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0026 | a0001c0003t0014g0147a0001c0003t0014g0149a0001c0003t0026g0148 | 3 | 163 | 0.0184 | 22 | c.519 others(41): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21473745 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0153 | 1 | 163 | 0.0061 | 22 | c.561 others(39): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR3_chr6_154382515_154515685 | 154415227 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0118 | a0001c0002t0118g0168 | 1 | 342 | 0.0029 | 22 | c.946 others(37): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154415228 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 NA18939.hp2 NA18949.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0030a0001c0001t0111others(1): Show | a0001c0001t0012g0254a0001c0001t0030g0307a0001c0001t0111g0315others(1): Show | 4 | 342 | 0.0117 | 22 | c.946 others(37): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154425745 | C | CTTGCTTC others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(170): Show | a0001c0001t0001g0157a0001c0001t0001g0223a0001c0001t0002g0078others(240): Show | 243 | 342 | 0.7105 | 22 | c.729 others(39): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
CNMD_chr13_52698264_52744820 | 52701802 | G | GACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0027others(20): Show | 28 | 330 | 0.0849 | 22 | c.*17 others(33): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 1461 | chr13 | TogoVar | ||||||
CNNM1_chr10_99324356_99399330 | 99347576 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00741.hp1 others(37): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0037a0001c0001t0001g0041others(35): Show | 40 | 320 | 0.1250 | 22 | c.157 others(41): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM1_chr10_99324356_99399330 | 99356562 | C | CAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0045a0001c0001t0001g0122a0002c0003t0001g0007 | 3 | 320 | 0.0094 | 22 | c.157 others(39): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM1_chr10_99324356_99399330 | 99356562 | C | CAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01261.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0056a0001c0001t0001g0060others(12): Show | 15 | 320 | 0.0469 | 22 | c.157 others(39): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM1_chr10_99324356_99399330 | 99356600 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 320 | 0.0031 | 22 | c.157 others(39): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102976611 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG02056.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0001c0002t0003a0002c0004t0059 | a0001c0002t0002g0245a0001c0002t0003g0229a0001c0002t0003g0232others(1): Show | 4 | 270 | 0.0148 | 22 | c.162 others(43): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0194 | 2 | 354 | 0.0057 | 22 | c.159 others(41): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01975.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0123a0001c0001t0001g0133others(2): Show | 5 | 354 | 0.0141 | 22 | c.159 others(41): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAATA others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02970.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(5): Show | 8 | 354 | 0.0226 | 22 | c.159 others(41): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAATATA others(15): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 354 | 0.0028 | 22 | c.159 others(41): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNOT1_chr16_58514951_58634826 | 58539480 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(37): Show |
a0001a0008 | a0001c0002a0001c0007a0001c0014others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0007t0001others(2): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0006others(37): Show | 40 | 308 | 0.1299 | 22 | c.499 others(39): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 35/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586308 | G | GGAGGGGA others(15): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0004a0001c0003t0002a0001c0006t0002others(1): Show | a0001c0001t0004g0298a0001c0001t0004g0299a0001c0001t0004g0300others(52): Show | 55 | 308 | 0.1786 | 22 | c.637 others(37): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586354 | A | AGGGAGGG others(15): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 308 | 0.0033 | 22 | c.637 others(37): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133916 | T | TCCACCTC others(15): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 223 | 0.0045 | 22 | c.-41 others(33): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3845 | chr19 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133982 | T | TCCACCTC others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01071.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0044a0001c0002t0001g0001a0001c0002t0001g0005others(10): Show | 16 | 223 | 0.0718 | 22 | c.-40 others(33): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3779 | chr19 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54142433 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp1 HG01928.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0039a0001c0001t0001g0041a0001c0001t0001g0042others(8): Show | 12 | 223 | 0.0538 | 22 | c.-50 others(37): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNOT4_chr7_135356795_135515102 | 135453826 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0127a0004c0005t0001g0128 | 2 | 362 | 0.0055 | 22 | c.-92 others(41): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77768474 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 328 | 0.0031 | 22 | c.400 others(39): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77819049 | G | GACACACA others(15): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01993.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0244others(17): Show | 20 | 328 | 0.0610 | 22 | c.5+2 others(33): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180533312 | C | CTATATAT others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 334 | 0.0030 | 22 | c.112 others(39): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNOT6_chr5_180489379_180583358 | 180538686 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 334 | 0.0030 | 22 | c.112 others(39): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNPY1_chr7_155496129_155551559 | 155527054 | C | CTTTCTTT others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01978.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0001g0195a0001c0001t0001g0204a0001c0001t0001g0205others(20): Show | 25 | 426 | 0.0587 | 22 | c.100 others(41): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23891275 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA19030.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0029 | a0002c0002t0015g0225a0002c0002t0029g0224 | 2 | 268 | 0.0075 | 22 | c.-45 others(41): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNRIP1_chr2_68288010_68324949 | 68305272 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0253 | 1 | 424 | 0.0024 | 22 | c.331 others(41): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNRIP1_chr2_68288010_68324949 | 68306124 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 424 | 0.0024 | 22 | c.330 others(41): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642132 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0011a0001c0001t0003g0292 | 2 | 320 | 0.0063 | 22 | c.937 others(35): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
CNTFR_chr9_34546433_34594724 | 34556194 | C | CCACTCAC others(15): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG02056.hp2 others(21): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0025others(11): Show | 24 | 402 | 0.0597 | 22 | c.768 others(35): Show |
CNTFR | ENSG00000122756.15 | transcript | ENST00000378980.8 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17202646 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 HG03209.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0002 | a0003c0002t0001g0052a0003c0002t0001g0073a0003c0002t0002g0072 | 3 | 218 | 0.0138 | 22 | c.450 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17307972 | C | CCACACAC others(15): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0025 | 1 | 218 | 0.0046 | 22 | c.114 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17312364 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp2 |
a0004a0008 | a0004c0003a0008c0009 | a0004c0003t0006a0008c0009t0008 | a0004c0003t0006g0198a0008c0009t0008g0185 | 2 | 218 | 0.0092 | 22 | c.134 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17312364 | T | TATATATT others(15): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0188 | 1 | 218 | 0.0046 | 22 | c.134 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | chr9 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17359725 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(30): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0004a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(11): Show | a0001c0001t0001g0050a0001c0001t0001g0065a0001c0001t0001g0124others(30): Show | 33 | 218 | 0.1514 | 22 | c.188 others(41): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17440588 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 |
a0018a0028 | a0018c0042a0028c0048 | a0018c0042t0002a0028c0048t0007 | a0018c0042t0002g0084a0028c0048t0007g0108 | 2 | 218 | 0.0092 | 22 | c.311 others(43): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40822148 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 230 | 0.0044 | 22 | c.-76 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40844069 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0004g0115a0001c0002t0001g0022a0001c0002t0001g0136others(3): Show | 6 | 230 | 0.0261 | 22 | c.-76 others(41): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40924881 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01169.hp1 HG01175.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0118a0001c0001t0001g0152a0001c0001t0001g0206others(15): Show | 18 | 230 | 0.0783 | 22 | c.496 others(37): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 41053428 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0172 | 1 | 230 | 0.0044 | 22 | c.298 others(43): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN3_chr3_74257568_74619659 | 74366778 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp1 HG02897.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0003a0001c0002t0003a0002c0005t0006 | a0001c0001t0003g0023a0001c0002t0003g0016a0002c0005t0006g0160 | 3 | 174 | 0.0172 | 22 | c.947 others(39): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74366780 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19043.hp1 NA20905.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0018a0003c0003t0024 | a0001c0001t0003g0061a0001c0001t0018g0173a0003c0003t0024g0075 | 3 | 174 | 0.0172 | 22 | c.947 others(39): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 8/22 | chr3 | TogoVar |