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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSTPP1_chr11_46931761_47167247 | 47101164 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 224 | 0.0045 | 17 | c.281 others(36): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 224 | 0.0045 | 17 | c.281 others(36): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 224 | 0.0045 | 17 | c.281 others(36): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CSTPP1_chr11_46931761_47167247 | 47122091 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 224 | 0.0045 | 17 | c.281 others(36): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
CS_chr12_56266699_56305330 | 56303534 | C | CATTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00673.hp1 others(56): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(53): Show | 59 | 316 | 0.1867 | 17 | c.-33 others(28): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 3205 | chr12 | TogoVar | ||||||
CS_chr12_56266699_56305330 | 56303535 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0021a0001c0001t0001g0116a0001c0001t0001g0124others(3): Show | 6 | 316 | 0.0190 | 17 | c.-33 others(28): Show |
CS | ENSG00000062485.19 | transcript | ENST00000351328.8 | protein_coding | 3206 | chr12 | TogoVar | ||||||
CT45A1_chrX_135708639_135728228 | 135715234 | T | TTATATAT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(31): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0004c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(20): Show | 34 | 57 | 0.5965 | 17 | c.-7+ others(32): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CT45A1_chrX_135708639_135728228 | 135715283 | T | TTATATAT others(10): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 57 | 0.0175 | 17 | c.-7+ others(32): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CT45A1_chrX_135708639_135728228 | 135723962 | C | CATATATG others(10): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01943.hp1 HG02056.hp1 others(12): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0003 | a0002c0002t0002a0003c0005t0002a0005c0003t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0016others(9): Show | 15 | 57 | 0.2632 | 17 | c.*92 others(26): Show |
CT45A1 | ENSG00000268940.6 | transcript | ENST00000594565.6 | protein_coding | 735 | chrX | TogoVar | ||||||
CT47A3_chrX_120967746_120981068 | 120975223 | G | GGGACGAC others(10): Show |
frameshift_variant | HIGH | HG00140.hp1 | a0012 | a0012c0017 | a0012c0017t0008 | a0012c0017t0008g0036 | 1 | 201 | 0.0050 | 17 | c.586 others(24): Show |
p.Pro others(5): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1/3 | 845/1298 | 586/867 | 196/288 | chrX | TogoVar | ||
CTDP1_chr18_79674803_79759503 | 79696116 | T | TGAGGAGG others(10): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0333 | 1 | 378 | 0.0027 | 17 | c.492 others(30): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79730466 | T | TCATTCGA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(276): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0084a0001c0001t0002g0001a0001c0001t0002g0002others(273): Show | 279 | 378 | 0.7381 | 17 | c.258 others(36): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79732895 | A | AGTGCTCC others(10): Show |
intron_variant | MODIFIER | NA18965.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048a0001c0003t0001g0052 | 2 | 378 | 0.0053 | 17 | c.258 others(36): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDSP2_chr12_57814927_57851729 | 57818182 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 346 | 0.0029 | 17 | c.*54 others(28): Show |
CTDSP2 | ENSG00000175215.11 | transcript | ENST00000398073.7 | protein_coding | 1744 | chr12 | TogoVar | ||||||
CTDSPL2_chr15_44422629_44534038 | 44506025 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03209.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0020a0001c0001t0003g0021others(2): Show | 5 | 234 | 0.0214 | 17 | c.969 others(34): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44506412 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0045 | 1 | 234 | 0.0043 | 17 | c.969 others(34): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTDSPL2_chr15_44422629_44534038 | 44521937 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0053 | 1 | 234 | 0.0043 | 17 | c.133 others(34): Show |
CTDSPL2 | ENSG00000137770.14 | transcript | ENST00000260327.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48568633 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02080.hp2 HG06807.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0011t0013 | a0001c0001t0001g0088a0001c0001t0005g0109a0001c0011t0013g0086 | 3 | 144 | 0.0208 | 17 | c.-29 others(36): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTIF_chr18_48534031_48868217 | 48772470 | C | CATAACTC others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01069.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0075a0001c0001t0001g0077others(33): Show | 36 | 144 | 0.2500 | 17 | c.137 others(38): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138825482 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01167.hp2 HG01943.hp2 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0002t0003a0004c0010t0001 | a0001c0001t0001g0038a0001c0001t0001g0086a0001c0001t0001g0089others(13): Show | 16 | 180 | 0.0889 | 17 | c.858 others(32): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138905111 | A | AAATACAT others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0008a0001c0004t0004a0001c0009t0004others(1): Show | a0001c0002t0008g0028a0001c0004t0004g0005a0001c0004t0004g0180others(2): Show | 5 | 180 | 0.0278 | 17 | c.138 others(34): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CTNNA1_chr5_138748425_138940034 | 138905111 | A | ACATACAT others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0007 | 1 | 180 | 0.0056 | 17 | c.138 others(34): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 10/17 | chr5 | TogoVar | ||||||
CTNNA1_chr5_138748425_138940034 | 138935340 | T | TCAGCATA others(10): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 180 | 0.0056 | 17 | c.*12 others(28): Show |
CTNNA1 | ENSG00000044115.21 | transcript | ENST00000302763.12 | protein_coding | 307 | chr5 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 79536602 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 68 | 0.0147 | 17 | c.-6+ others(34): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 79956843 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0036 | 1 | 68 | 0.0147 | 17 | c.105 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CTNNA2_chr2_79508051_80653780 | 79982231 | T | TGTACACA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0068 | 1 | 68 | 0.0147 | 17 | c.105 others(38): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 80591457 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0002a0001c0005t0002 | a0001c0001t0002g0029a0001c0001t0002g0041a0001c0001t0002g0057others(3): Show | 6 | 68 | 0.0882 | 17 | c.218 others(36): 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(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0030 | 1 | 46 | 0.0217 | 17 | c.216 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66024085 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0019a0001c0004t0007 | a0001c0001t0019g0019a0001c0004t0007g0005 | 2 | 46 | 0.0435 | 17 | c.216 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66332411 | A | ATACGTCC others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01243.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0015a0001c0001t0002g0009a0001c0001t0002g0024others(30): Show | 33 | 46 | 0.7174 | 17 | c.173 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66332411 | A | ATACGTTC others(10): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp1 HG01243.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(9): Show | a0001c0001t0001g0006a0001c0001t0004g0043a0001c0001t0016g0003others(9): Show | 12 | 46 | 0.2609 | 17 | c.173 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66547343 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0041a0001c0001t0016g0003 | 2 | 46 | 0.0435 | 17 | c.137 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 10/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66845703 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 46 | 0.0217 | 17 | c.104 others(38): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 67005682 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 46 | 0.0217 | 17 | c.104 others(40): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11240386 | T | TCAAACAC others(10): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG02258.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(18): Show | 21 | 26 | 0.8077 | 17 | c.162 others(36): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 9/21 | chr5 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3635230 | G | GAAGGAAG others(10): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0288 | 1 | 372 | 0.0027 | 17 | c.-18 others(28): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 1529 | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3635240 | A | AGGAAGGA others(10): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01081.hp1 others(20): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0001c0001t0021a0001c0001t0029others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0127others(20): Show | 23 | 372 | 0.0618 | 17 | c.-18 others(28): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 1519 | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19087.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0034 | a0001c0001t0001g0196a0002c0002t0034g0286 | 2 | 372 | 0.0054 | 17 | c.61+ others(32): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTNS_chr17_3631760_3668103 | 3641384 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0264a0002c0002t0004g0302 | 2 | 372 | 0.0054 | 17 | c.61+ others(32): 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(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02698.hp1 HG03492.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0033a0001c0001t0087others(3): Show | a0001c0001t0001g0144a0001c0001t0001g0145a0001c0001t0001g0153others(10): Show | 13 | 372 | 0.0350 | 17 | c.61+ others(32): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 3/11 | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3658602 | A | ACTCAGGG others(10): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0227 | 1 | 372 | 0.0027 | 17 | c.852 others(32): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CTPS2_chrX_16582999_16717669 | 16639777 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 226 | 0.0044 | 17 | c.129 others(34): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | ||||||
CTSB_chr8_11837524_11873087 | 11869602 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0008 | a0003c0008t0020 | a0003c0008t0020g0015 | 1 | 438 | 0.0023 | 17 | c.-16 others(28): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 1516 | chr8 | TogoVar | ||||||
CTSC_chr11_88288592_88342736 | 88291330 | G | GGAAGGAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0273 | 3 | 434 | 0.0069 | 17 | c.*26 others(28): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2261 | chr11 | TogoVar | ||||||
CTSD_chr11_1747755_1768927 | 1754533 | A | AGGGATGG others(10): Show |
intron_variant | MODIFIER | HG02886.hp1 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0144 | 2 | 386 | 0.0052 | 17 | c.827 others(32): Show |
CTSD | ENSG00000117984.15 | transcript | ENST00000236671.7 | protein_coding | 6/8 | chr11 | TogoVar | ||||||
CTSF_chr11_66558464_66573606 | 66571636 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03453.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0002c0005t0002 | a0001c0002t0002g0003a0002c0005t0002g0009 | 4 | 412 | 0.0097 | 17 | c.-31 others(28): Show |
CTSF | ENSG00000174080.12 | transcript | ENST00000310325.10 | protein_coding | 3031 | chr11 | TogoVar | ||||||
CTSH_chr15_78916058_78950046 | 78924101 | G | GGGGGGGG others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 414 | 0.0024 | 17 | c.807 others(32): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 10/11 | chr15 | TogoVar | ||||||
CTSK_chr1_150791208_150813260 | 150807005 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 392 | 0.0026 | 17 | c.-1- others(30): Show |
CTSK | ENSG00000143387.14 | transcript | ENST00000271651.8 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
CTTNBP2NL_chr1_112391214_112466164 | 112449753 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0019a0001c0007t0014 | a0001c0001t0006g0305a0001c0001t0006g0307a0001c0001t0006g0309others(5): Show | 8 | 324 | 0.0247 | 17 | c.330 others(32): Show |
CTTNBP2NL | ENSG00000143079.15 | transcript | ENST00000271277.11 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
CTTNBP2NL_chr1_112391214_112466164 | 112452645 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0132a0001c0005t0008g0133 | 2 | 324 | 0.0062 | 17 | c.331 others(34): Show |
CTTNBP2NL | ENSG00000143079.15 | transcript | ENST00000271277.11 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |