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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C17orf78_chr17_37370985_37397708 | 37390330 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 83 | 0.0120 | 22 | c.750 others(37): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf78_chr17_37370985_37397708 | 37390330 | A | ATATATCT others(15): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0265 | 1 | 83 | 0.0120 | 22 | c.750 others(37): Show |
C17orf78 | ENSG00000278505.5 | transcript | ENST00000615133.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf80_chr17_73227433_73253959 | 73234773 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01346.hp1 others(20): Show |
a0002a0009a0012 | a0002c0001a0009c0010a0012c0014 | a0002c0001t0001a0002c0001t0006a0002c0001t0012others(2): Show | a0002c0001t0001g0004 a0002c0001t0001g0130 a0002c0001t0001g0146 others(9): Show |
23 | 214 | 0.1075 | 22 | c.-7- others(35): Show |
C17orf80 | ENSG00000141219.16 | transcript | ENST00000535032.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C17orf98_chr17_38830086_38846438 | 38845112 | G | GTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | 51 | 0.0392 | 22 | c.-37 others(33): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 3675 | chr17 | TogoVar | |||||||
C18orf63_chr18_74310839_74364189 | 74362110 | T | TTATATAA others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0033 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0006g0056 others(1): Show |
6 | 369 | 0.0163 | 22 | c.*56 others(33): Show |
C18orf63 | ENSG00000206043.7 | transcript | ENST00000579455.2 | protein_coding | 2922 | chr18 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29695985 | T | TGACACCT others(15): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 416 | 0.0024 | 22 | c.*67 others(33): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 2951 | chr19 | TogoVar | |||||||
C19orf12_chr19_29693937_29720261 | 29719608 | A | AATATAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 416 | 0.0024 | 22 | c.-44 others(33): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 4348 | chr19 | TogoVar | |||||||
C19orf85_chr19_55458001_55469751 | 55466676 | G | GGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
3 | 234 | 0.0128 | 22 | c.-21 others(33): Show |
C19orf85 | ENSG00000283567.2 | transcript | ENST00000635964.2 | protein_coding | 1926 | chr19 | TogoVar | |||||||
C1QL3_chr10_16508734_16526879 | 16519140 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02809.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0002g0052 others(2): Show |
6 | 129 | 0.0465 | 22 | c.588 others(39): Show |
C1QL3 | ENSG00000165985.11 | transcript | ENST00000298943.4 | protein_coding | 1/1 | chr10 | TogoVar | |||||||
C1QTNF1_chr17_79019169_79054788 | 79023704 | G | GCGCGCGC others(15): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0064 | 1 | 79 | 0.0127 | 22 | c.-80 others(31): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 464 | chr17 | TogoVar | |||||||
C1QTNF1_chr17_79019169_79054788 | 79023704 | G | GCGCGCGC others(15): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0036 | 1 | 79 | 0.0127 | 22 | c.-80 others(31): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 464 | chr17 | TogoVar | |||||||
C1QTNF1_chr17_79019169_79054788 | 79042466 | C | CTGGAAGG others(15): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 390 | 0.0026 | 22 | c.-14 others(39): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02895.hp1 NA18939.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0144 a0001c0001t0001g0162 others(1): Show |
4 | 122 | 0.0328 | 22 | c.-35 others(31): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTTTATAT others(15): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 133 | 0.0075 | 22 | c.57- others(37): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10986123 | G | GCACACAC others(15): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 HG02165.hp2 HG02293.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0001t0001g0089 a0001c0003t0001g0022 a0001c0003t0001g0094 others(8): Show |
11 | 328 | 0.0335 | 22 | c.-40 others(33): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 4048 | chr1 | TogoVar | |||||||
C1orf198_chr1_230832119_230873521 | 230836212 | A | AAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 a0001c0001t0005g0230 |
2 | 380 | 0.0053 | 22 | c.*36 others(33): Show |
C1orf198 | ENSG00000119280.17 | transcript | ENST00000366663.10 | protein_coding | 906 | chr1 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184386789 | C | CCACACAC others(15): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0016 a0001c0001t0002g0062 a0001c0001t0036g0152 |
3 | 39 | 0.0769 | 22 | c.-70 others(31): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 239 | chr1 | TogoVar | |||||||
C1orf43_chr1_154201720_154225590 | 154203172 | A | AATATATA others(15): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 32 | 0.0313 | 22 | c.*42 others(33): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar | |||||||
C1orf50_chr1_42762249_42784491 | 42775762 | T | TTATATAT others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0076 | 1 | 143 | 0.0070 | 22 | c.*37 others(31): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 393 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf87_chr1_59985394_60078770 | 60005770 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 366 | 0.0027 | 22 | c.119 others(41): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
C1orf87_chr1_59985394_60078770 | 60054968 | G | GTCATGAC others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 380 | 0.0026 | 22 | c.342 others(37): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01496.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0323 a0001c0001t0002g0182 a0001c0001t0002g0229 others(4): Show |
7 | 129 | 0.0543 | 22 | c.-26 others(41): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAT others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 123 | 0.0081 | 22 | c.-26 others(41): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 273973 | G | GAAAAGAG others(15): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 408 | 0.0025 | 22 | c.103 others(41): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 287908 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0030 | 1 | 117 | 0.0085 | 22 | c.187 others(39): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG02257.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0001g0277 a0001c0001t0001g0278 others(6): Show |
9 | 179 | 0.0503 | 22 | c.*35 others(33): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46303745 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 295 | 0.0034 | 22 | c.722 others(39): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | |||||||
C21orf62_chr21_32785673_32818703 | 32804275 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 a0001c0001t0011g0242 |
2 | 71 | 0.0282 | 22 | c.-65 others(39): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145596 | T | TAATTTAT others(15): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG01891.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0013 others(3): Show |
14 | 376 | 0.0372 | 22 | c.*39 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3409 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145596 | T | TGATTTAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0009a0002c0011 | a0001c0009t0002a0002c0011t0002 | a0001c0009t0002g0022 a0002c0011t0002g0028 |
4 | 366 | 0.0109 | 22 | c.*39 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3409 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145637 | A | ATATTATA others(15): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 327 | 0.0031 | 22 | c.*39 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3368 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0022 | 1 | 114 | 0.0088 | 22 | c.*16 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 114 | 0.0088 | 22 | c.*16 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32147902 | A | ATATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087 | 1 | 114 | 0.0088 | 22 | c.*16 others(33): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 1103 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41898970 | G | GCAGATGA others(15): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01884.hp1 others(7): Show |
a0001a0002a0003 | a0001c0004a0001c0006a0001c0007others(3): Show | a0001c0004t0009a0001c0006t0009a0001c0007t0005others(4): Show | a0001c0004t0009g0137 a0001c0004t0009g0223 a0001c0004t0009g0350 others(7): Show |
10 | 394 | 0.0254 | 22 | c.187 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 13/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41908243 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(81): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0025others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0038 others(81): Show |
84 | 197 | 0.4264 | 22 | c.101 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41911388 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0044 | a0001c0005t0044g0254 | 1 | 291 | 0.0034 | 22 | c.953 others(37): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 7/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41931974 | G | GCATCCCA others(15): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0008 | a0002c0008t0009 | a0002c0008t0009g0161 | 1 | 365 | 0.0027 | 22 | c.379 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 2/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(15): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03704.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0048 | a0001c0002t0001g0362 a0001c0006t0048g0357 |
2 | 240 | 0.0083 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(15): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02145.hp2 others(3): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0012 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0003t0001g0064 a0001c0003t0003g0065 a0001c0003t0004g0170 others(3): Show |
6 | 244 | 0.0246 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0360 | 1 | 116 | 0.0086 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03098.hp1 HG03471.hp1 others(3): Show |
a0001a0003 | a0001c0003a0001c0007a0001c0011others(2): Show | a0001c0003t0001a0001c0003t0012a0001c0007t0005others(3): Show | a0001c0003t0001g0218 a0001c0003t0012g0239 a0001c0007t0005g0009 others(3): Show |
6 | 121 | 0.0496 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01516.hp2 HG02723.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0050 a0001c0001t0001g0178 a0001c0001t0002g0300 others(10): Show |
13 | 128 | 0.1016 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947139 | T | TCTCTCTC others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0276 | 1 | 389 | 0.0026 | 22 | c.280 others(39): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74107322 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0233 | 1 | 208 | 0.0048 | 22 | c.196 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 12/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02922.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0199 a0002c0003t0001g0202 |
2 | 21 | 0.0952 | 22 | c.152 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146747 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01169.hp2 HG02074.hp2 others(2): Show |
a0002a0008a0018 | a0002c0003a0008c0007a0018c0029 | a0002c0003t0001a0008c0007t0001a0018c0029t0001 | a0002c0003t0001g0083 a0002c0003t0001g0196 a0002c0003t0001g0199 others(2): Show |
5 | 91 | 0.0549 | 22 | c.484 others(39): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201581455 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0030 | a0030c0020 | a0030c0020t0001 | a0030c0020t0001g0017 | 1 | 268 | 0.0037 | 22 | c.639 others(37): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 5/15 | chr2 | TogoVar | |||||||
C2orf50_chr2_11128128_11156317 | 11155121 | G | GGGGCGAG others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(128): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(24): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(84): Show |
131 | 378 | 0.3466 | 22 | c.*11 others(35): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 3805 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922029 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02135.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0001g0126 others(1): Show |
6 | 394 | 0.0152 | 22 | c.334 others(39): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |