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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf50_chr1_42762249_42784491 | 42775776 | A | ATATATAT others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0019 | 1 | 418 | 0.0024 | 12 | c.*39 others(21): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 393 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf54_chr1_150267790_150285916 | 150284003 | T | TTTATTAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0030 others(1): Show |
6 | 434 | 0.0138 | 12 | c.*31 others(23): Show |
C1orf54 | ENSG00000118292.9 | transcript | ENST00000369099.8 | protein_coding | 3088 | chr1 | TogoVar | |||||||
C1orf87_chr1_59985394_60078770 | 59988343 | G | GACAGACA others(5): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0355 | 1 | 382 | 0.0026 | 12 | c.*23 others(23): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2050 | chr1 | TogoVar | |||||||
C1orf94_chr1_34171907_34224131 | 34209285 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG02257.hp2 others(15): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0006a0005c0007others(2): Show | a0002c0002t0006a0002c0002t0029a0002c0006t0001others(9): Show | a0002c0002t0006g0173 a0002c0002t0029g0140 a0002c0006t0001g0038 others(14): Show |
18 | 356 | 0.0506 | 12 | c.152 others(31): Show |
C1orf94 | ENSG00000142698.15 | transcript | ENST00000488417.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C20orf141_chr20_2809987_2820830 | 2810079 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002 |
3 | 414 | 0.0073 | 12 | c.-49 others(23): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 4907 | chr20 | TogoVar | |||||||
C20orf141_chr20_2809987_2820830 | 2820772 | C | CACTCAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 12 | c.*49 others(23): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 4943 | chr20 | TogoVar | |||||||
C20orf173_chr20_35521979_35534652 | 35530219 | A | AATTATTA others(5): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03098.hp2 HG03492.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0002 |
4 | 366 | 0.0109 | 12 | c.-71 others(21): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 568 | chr20 | TogoVar | |||||||
C20orf173_chr20_35521979_35534652 | 35532595 | A | ACACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 2 | 366 | 0.0055 | 12 | c.-30 others(23): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 2944 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32628630 | A | AACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0034 others(4): Show |
7 | 360 | 0.0194 | 12 | c.*69 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2994 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32630994 | A | AAGGGAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0012 a0001c0001t0012g0216 |
3 | 360 | 0.0083 | 12 | c.*45 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 630 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32656863 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0014 a0001c0001t0002g0189 a0001c0001t0002g0279 others(1): Show |
5 | 360 | 0.0139 | 12 | c.-26 others(31): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01168.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0026others(1): Show | a0001c0001t0003g0339 a0001c0001t0006g0267 a0001c0001t0026g0169 others(5): Show |
8 | 360 | 0.0222 | 12 | c.-26 others(31): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 360 | 0.0028 | 12 | c.-26 others(31): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32676124 | A | AACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0216 | 1 | 360 | 0.0028 | 12 | c.-27 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2184 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 273903 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0161 | 1 | 410 | 0.0024 | 12 | c.103 others(31): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 273903 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0282 a0002c0002t0001g0012 a0002c0002t0001g0136 others(18): Show |
22 | 410 | 0.0537 | 12 | c.103 others(31): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278930 | C | CGGAGGGA others(5): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 410 | 0.0024 | 12 | c.465 others(27): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278962 | G | GGGAGGGC others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01993.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0241 a0001c0001t0001g0258 others(2): Show |
5 | 410 | 0.0122 | 12 | c.465 others(27): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 288158 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(5): Show | a0001c0001t0001g0230 a0001c0001t0001g0307 a0001c0001t0001g0312 others(69): Show |
78 | 410 | 0.1902 | 12 | c.187 others(29): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 a0001c0001t0003g0319 |
2 | 378 | 0.0053 | 12 | c.*35 others(23): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46299750 | G | GCCCCCCC others(5): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0005 a0001c0001t0007g0327 |
2 | 378 | 0.0053 | 12 | c.*22 others(23): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 1379 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46301721 | A | AAAGGAGG others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0006 | a0003c0006t0014 | a0003c0006t0014g0077 | 1 | 378 | 0.0027 | 12 | c.*26 others(21): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 8/8 | 277 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303706 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 a0001c0001t0002g0280 |
2 | 378 | 0.0053 | 12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46303708 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0283 a0002c0002t0001g0178 |
2 | 378 | 0.0053 | 12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32809182 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 303 | 0.0033 | 12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32809275 | C | CCCTCCCT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0066 a0001c0001t0001g0069 others(29): Show |
33 | 303 | 0.1089 | 12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32809279 | C | CCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 a0001c0002t0002g0269 a0001c0002t0002g0271 |
4 | 303 | 0.0132 | 12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32809279 | C | CCTTTCTT others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02717.hp2 HG03654.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0022 a0001c0002t0002g0054 a0001c0002t0009g0057 |
3 | 303 | 0.0099 | 12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
C21orf91_chr21_17783974_17824356 | 17789253 | T | TAACACAC others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp2 HG03471.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0027 | 3 | 414 | 0.0073 | 12 | c.*41 others(23): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 5/5 | 4161 | chr21 | TogoVar | ||||||
C22orf23_chr22_37938050_37958601 | 37951797 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 374 | 0.0027 | 12 | c.104 others(27): Show |
C22orf23 | ENSG00000128346.11 | transcript | ENST00000403305.6 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002 a0002c0002t0002g0016 |
2 | 398 | 0.0050 | 12 | c.*16 others(23): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 398 | 0.0025 | 12 | c.*16 others(23): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32148240 | C | CATATATA others(5): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 NA19085.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0010 |
2 | 398 | 0.0050 | 12 | c.*12 others(23): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 765 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02602.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0021others(2): Show | a0001c0003t0005a0001c0006t0003a0001c0021t0005others(4): Show | a0001c0003t0005g0061 a0001c0006t0003g0341 a0001c0021t0005g0235 others(4): Show |
7 | 396 | 0.0177 | 12 | c.101 others(29): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41948870 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01169.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0130 a0001c0001t0002g0131 a0001c0001t0004g0125 others(12): Show |
15 | 396 | 0.0379 | 12 | c.279 others(29): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74110082 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG03130.hp1 others(1): Show |
a0011a0028 | a0011c0015a0028c0045 | a0011c0015t0001a0028c0045t0001 | a0011c0015t0001g0001 a0011c0015t0001g0223 a0028c0045t0001g0224 |
4 | 318 | 0.0126 | 12 | c.184 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117063 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 318 | 0.0031 | 12 | c.152 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117089 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 |
a0014 | a0014c0020 | a0014c0020t0004 | a0014c0020t0004g0218 a0014c0020t0004g0219 |
2 | 318 | 0.0063 | 12 | c.152 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117117 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG06807.hp1 |
a0004a0030 | a0004c0004a0030c0042 | a0004c0004t0001a0030c0042t0001 | a0004c0004t0001g0043 a0004c0004t0001g0044 a0030c0042t0001g0302 |
3 | 318 | 0.0094 | 12 | c.152 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117145 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0043 a0004c0004t0001g0044 |
2 | 318 | 0.0063 | 12 | c.152 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117159 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG06807.hp1 |
a0006a0030 | a0006c0012a0030c0042 | a0006c0012t0001a0030c0042t0001 | a0006c0012t0001g0233 a0030c0042t0001g0302 |
2 | 318 | 0.0063 | 12 | c.152 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG02809.hp2 others(9): Show |
a0002a0004a0009 | a0002c0003a0004c0004a0009c0011 | a0002c0003t0001a0004c0004t0001a0009c0011t0001 | a0002c0003t0001g0187 a0002c0003t0001g0206 a0002c0003t0001g0207 others(9): Show |
12 | 318 | 0.0377 | 12 | c.152 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74130122 | G | GGGGAGAG others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 HG03195.hp1 others(3): Show |
a0007a0032 | a0007c0009a0032c0046 | a0007c0009t0002a0032c0046t0002 | a0007c0009t0002g0313 a0007c0009t0002g0314 a0007c0009t0002g0315 others(3): Show |
6 | 318 | 0.0189 | 12 | c.121 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 7/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146710 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(56): Show |
a0003a0006a0027others(1): Show | a0003c0002a0003c0041a0006c0012others(2): Show | a0003c0002t0001a0003c0002t0003a0003c0041t0001others(3): Show | a0003c0002t0001g0241 a0003c0002t0001g0243 a0003c0002t0001g0244 others(56): Show |
59 | 318 | 0.1855 | 12 | c.484 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146710 | C | CCCCACAC others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0015 | 1 | 318 | 0.0031 | 12 | c.484 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG02145.hp1 others(21): Show |
a0002a0005a0009others(1): Show | a0002c0003a0002c0005a0005c0006others(2): Show | a0002c0003t0001a0002c0005t0001a0005c0006t0001others(2): Show | a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 others(21): Show |
24 | 318 | 0.0755 | 12 | c.484 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74150492 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0286 | 1 | 318 | 0.0031 | 12 | c.484 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74151305 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02622.hp1 others(13): Show |
a0003a0007a0013others(5): Show | a0003c0016a0003c0034a0007c0009others(6): Show | a0003c0016t0001a0003c0034t0001a0007c0009t0002others(6): Show | a0003c0016t0001g0242 a0003c0016t0001g0249 a0003c0034t0001g0185 others(13): Show |
16 | 318 | 0.0503 | 12 | c.483 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74151319 | T | TTATTTAT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04228.hp2 HG06807.hp1 others(4): Show |
a0010a0030 | a0010c0010a0030c0042 | a0010c0010t0001a0030c0042t0001 | a0010c0010t0001g0303 a0010c0010t0001g0304 a0010c0010t0001g0305 others(4): Show |
7 | 318 | 0.0220 | 12 | c.483 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410871 | C | CGAGCCGG others(5): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01361.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0001 a0001c0001t0034g0030 |
4 | 322 | 0.0124 | 12 | c.-19 others(23): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1725 | chr19 | TogoVar |