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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSNK2A1_chr20_467498_548790 | 485105 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 316 | 0.0032 | 19 | c.106 others(38): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 485107 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0108 | 2 | 316 | 0.0063 | 19 | c.106 others(38): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 485113 | T | TAATAATA others(12): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0282 | 1 | 316 | 0.0032 | 19 | c.106 others(38): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 523858 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0089 | a0001c0001t0036g0006a0001c0001t0089g0002 | 2 | 316 | 0.0063 | 19 | c.-11 others(38): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 2/13 | chr20 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171979 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03927.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032a0001c0001t0002g0318a0001c0001t0002g0327others(1): Show | 4 | 400 | 0.0100 | 19 | c.429 others(36): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171979 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19057.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0299a0001c0001t0002g0300 | 2 | 400 | 0.0050 | 19 | c.429 others(36): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171979 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 400 | 0.0025 | 19 | c.429 others(36): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNK2A2_chr16_58152907_58203106 | 58171980 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 400 | 0.0025 | 19 | c.429 others(36): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88445275 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01952.hp1 HG02040.hp2 others(2): Show |
a0001a0018 | a0001c0004a0018c0022 | a0001c0004t0001a0001c0004t0002a0018c0022t0001 | a0001c0004t0001g0209a0001c0004t0001g0218a0001c0004t0001g0227others(2): Show | 5 | 386 | 0.0130 | 19 | c.-27 others(40): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CSRNP3_chr2_165464698_165694407 | 165674714 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0190 | 1 | 246 | 0.0041 | 19 | c.409 others(36): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
CSRP2_chr12_76853709_76884019 | 76869579 | C | CACACACA others(12): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0338 | 1 | 388 | 0.0026 | 19 | c.-1- others(34): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197532 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 416 | 0.0024 | 19 | c.-29 others(36): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CSRP3_chr11_19177030_19206983 | 19197572 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 416 | 0.0024 | 19 | c.-29 others(36): Show |
CSRP3 | ENSG00000129170.10 | transcript | ENST00000265968.9 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CST3_chr20_23628657_23642955 | 23638070 | C | CCTCCCCG others(12): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02155.hp2 HG02896.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0004a0001c0001t0001g0032a0002c0002t0002g0003 | 4 | 420 | 0.0095 | 19 | c.-22 others(28): Show |
CST3 | ENSG00000101439.9 | transcript | ENST00000376925.8 | protein_coding | 116 | chr20 | TogoVar | ||||||
CSTF1_chr20_56387645_56411362 | 56404812 | A | ATTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG01975.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0041 | a0001c0001t0007g0001a0001c0001t0007g0003a0001c0001t0007g0007others(2): Show | 11 | 422 | 0.0261 | 19 | c.*10 others(30): Show |
CSTF1 | ENSG00000101138.12 | transcript | ENST00000217109.9 | protein_coding | 6/6 | 1112 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
CS_chr12_56266699_56305330 | 56303534 | C | CATTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02027.hp2 HG02071.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0069others(12): Show | 15 | 316 | 0.0475 | 19 | c.-33 others(30): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 3205 | chr12 | TogoVar | ||||||
CS_chr12_56266699_56305330 | 56303535 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 316 | 0.0032 | 19 | c.-33 others(30): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 3206 | chr12 | TogoVar | ||||||
CT45A1_chrX_135708639_135728228 | 135723962 | C | CATATATG others(12): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 1 | 57 | 0.0175 | 19 | c.*92 others(28): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 735 | chrX | TogoVar | ||||||
CT45A6_chrX_135789685_135807787 | 135803900 | A | AGAAAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0020 | 2 | 36 | 0.0556 | 19 | c.-13 others(30): Show |
CT45A6 | ENSG00000278289.5 | transcript | ENST00000620654.2 | protein_coding | 1114 | chrX | TogoVar | ||||||
CT45A7_chrX_135824229_135842280 | 135838421 | A | AGAAAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01261.hp1 NA18945.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017a0002c0002t0001g0006a0002c0002t0001g0015 | 3 | 19 | 0.1579 | 19 | c.-13 others(30): Show |
CT45A7 | ENSG00000273696.5 | transcript | ENST00000610598.5 | protein_coding | 1142 | chrX | TogoVar | ||||||
CT47A6_chrX_120953165_120966487 | 120955759 | G | GGGGACCG others(12): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0020 | 1 | 110 | 0.0091 | 19 | c.*25 others(30): Show |
CT47A6 | ENSG00000226023.6 | transcript | ENST00000419194.3 | protein_coding | 2405 | chrX | TogoVar | ||||||
CT47A6_chrX_120953165_120966487 | 120955771 | G | GCCTCCTG others(12): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 110 | 0.0091 | 19 | c.*25 others(30): Show |
CT47A6 | ENSG00000226023.6 | transcript | ENST00000419194.3 | protein_coding | 2393 | chrX | TogoVar | ||||||
CTBP2_chr10_124979317_125033071 | 124981999 | T | TAGCATCG others(12): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0006 | a0005c0006t0079 | a0005c0006t0079g0035 | 1 | 380 | 0.0026 | 19 | c.*75 others(30): Show |
CTBP2 | ENSG00000175029.17 | transcript | ENST00000309035.11 | protein_coding | 2317 | chr10 | TogoVar | ||||||
CTBS_chr1_84544611_84579440 | 84574504 | T | TCGGGAAG others(12): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0009a0001c0018 | a0001c0009t0010a0001c0018t0015 | a0001c0009t0010g0014a0001c0009t0010g0064a0001c0018t0015g0062 | 6 | 340 | 0.0177 | 19 | c.-90 others(26): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 65 | chr1 | TogoVar | ||||||
CTBS_chr1_84544611_84579440 | 84574510 | A | AGGGCGGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00733.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0001t0001g0035a0001c0002t0002g0043a0001c0002t0003g0004others(11): Show | 28 | 340 | 0.0824 | 19 | c.-96 others(26): Show |
CTBS | ENSG00000117151.13 | transcript | ENST00000370630.6 | protein_coding | 71 | chr1 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44506025 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0008 | 1 | 234 | 0.0043 | 19 | c.969 others(36): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL_chr3_37856880_37989469 | 37948808 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048a0001c0001t0006g0050 | 2 | 166 | 0.0121 | 19 | c.234 others(36): Show |
CTDSPL | ENSG00000144677.15 | transcript | ENST00000273179.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48568633 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19011.hp2 |
a0002a0005 | a0002c0004a0005c0010 | a0002c0004t0010a0005c0010t0001 | a0002c0004t0010g0085a0005c0010t0001g0111 | 2 | 144 | 0.0139 | 19 | c.-29 others(38): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48645278 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 144 | 0.0069 | 19 | c.252 others(36): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138823956 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080a0001c0002t0002g0081 | 2 | 180 | 0.0111 | 19 | c.589 others(34): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138825482 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0003a0001c0004t0004 | a0001c0001t0001g0039a0001c0001t0001g0092a0001c0002t0003g0004others(6): Show | 9 | 180 | 0.0500 | 19 | c.858 others(34): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138908579 | C | CGCTTGAG others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0004a0001c0009 | a0001c0004t0004a0001c0009t0004 | a0001c0004t0004g0005a0001c0004t0004g0007a0001c0004t0004g0180others(1): Show | 4 | 180 | 0.0222 | 19 | c.138 others(38): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138916177 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 180 | 0.0056 | 19 | c.139 others(38): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79835678 | T | TTTGTTTT others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 68 | 0.0147 | 19 | c.299 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79835679 | T | TTGTTTTT others(12): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0006 | 1 | 68 | 0.0147 | 19 | c.299 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79956843 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0014 | 1 | 68 | 0.0147 | 19 | c.105 others(40): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80164652 | C | CCCTTTCC others(12): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 1 | 68 | 0.0147 | 19 | c.105 others(42): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80591457 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 68 | 0.0147 | 19 | c.218 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 80601417 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 68 | 0.0147 | 19 | c.219 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA3_chr10_65907523_67701195 | 66021852 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02896.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0006a0001c0011t0009 | a0001c0001t0006g0008a0001c0011t0009g0017 | 2 | 46 | 0.0435 | 19 | c.216 others(40): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66085862 | A | AAGAATTA others(12): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01243.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0015a0001c0001t0004g0041a0001c0001t0005g0010others(25): Show | 28 | 46 | 0.6087 | 19 | c.197 others(40): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 14/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66547343 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001a0002 | a0001c0011a0002c0002 | a0001c0011t0009a0002c0002t0013 | a0001c0011t0009g0017a0002c0002t0013g0026 | 2 | 46 | 0.0435 | 19 | c.137 others(40): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 10/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67143425 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 46 | 0.0217 | 19 | c.104 others(40): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67538157 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0011 | a0001c0011t0009 | a0001c0011t0009g0017 | 1 | 46 | 0.0217 | 19 | c.459 others(36): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 4/17 | chr10 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3635245 | G | GGAAGGAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0016 | 1 | 372 | 0.0027 | 19 | c.-18 others(30): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 1514 | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0085 | a0001c0001t0001g0179a0001c0001t0085g0200 | 2 | 372 | 0.0054 | 19 | c.61+ others(34): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641385 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG02004.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0001c0001t0034others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0146others(6): Show | 12 | 372 | 0.0323 | 19 | c.61+ others(34): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
CTSB_chr8_11837524_11873087 | 11847871 | A | AAGCCCCA others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02647.hp2 |
a0003 | a0003c0012 | a0003c0012t0031a0003c0012t0058 | a0003c0012t0031g0157a0003c0012t0031g0158a0003c0012t0058g0159 | 3 | 438 | 0.0069 | 19 | c.533 others(32): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 6/9 | chr8 | TogoVar | ||||||
CTSB_chr8_11837524_11873087 | 11847871 | A | AAGCCCCA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0005a0001c0003t0001a0001c0003t0004others(60): Show | a0001c0001t0005g0284a0001c0001t0005g0313a0001c0003t0001g0091others(180): Show | 210 | 438 | 0.4795 | 19 | c.533 others(32): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 6/9 | chr8 | TogoVar | ||||||
CTSK_chr1_150791208_150813260 | 150807005 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 392 | 0.0026 | 19 | c.-1- others(32): Show |
CTSK | ENSG00000143387.14 | transcript | ENST00000271651.8 | protein_coding | 1/7 | chr1 | TogoVar |