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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD6_chr2_201482421_201624178 | 201601736 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 270 | 0.0037 | 0 | c.516 others(5): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 4/15 | chr2 | TogoVar | ||||||
C2CD6_chr2_201482421_201624178 | 201603282 | C | T | splice_region_variant others(1): Show |
LOW | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 270 | 0.0037 | 0 | c.319 others(5): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 2/15 | chr2 | TogoVar | ||||||
C2_chr6_31922717_31950672 | 31933606 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp2 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0006c0014t0001 | a0001c0001t0001g0061a0006c0014t0001g0184 | 2 | 395 | 0.0051 | 0 | c.443 others(5): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 3/17 | chr6 | TogoVar | ||||||
C2_chr6_31922717_31950672 | 31934288 | ATGGTGGA others(21): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG00323.hp2 HG01123.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0084a0004c0005t0001g0087 | 2 | 395 | 0.0051 | -28 | c.841 others(38): Show |
p.Val others(13): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 6/18 | 877/2610 | 841/2259 | 281/752 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
C2_chr6_31922717_31950672 | 31944232 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01123.hp2 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0054a0001c0001t0001g0058others(4): Show | 9 | 395 | 0.0228 | 0 | c.190 others(6): Show |
C2 | ENSG00000166278.16 | transcript | ENST00000299367.10 | protein_coding | 15/17 | chr6 | TogoVar | ||||||
C2orf15_chr2_99136707_99156669 | 99150464 | C | CT | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01071.hp1 HG01168.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0158others(14): Show | 28 | 414 | 0.0676 | 1 | c.-76 others(6): Show |
C2orf15 | ENSG00000273045.7 | transcript | ENST00000650052.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27565415 | G | C | missense_variant others(1): Show |
MODERATE | HG00639.hp2 HG01167.hp2 HG01169.hp2 others(8): Show |
a0006a0050a0051 | a0006c0005a0050c0029a0051c0030 | a0006c0005t0002a0050c0029t0002a0051c0030t0002 | a0006c0005t0002g0005a0006c0005t0002g0007a0006c0005t0002g0009others(8): Show | 11 | 326 | 0.0337 | 0 | c.223 others(3): Show |
p.Asp others(5): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 2/5 | 264/16403 | 223/16167 | 75/5388 | chr2 | TogoVar | ||
C2orf50_chr2_11128128_11156317 | 11133599 | C | T | splice_region_variant others(1): Show |
LOW | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0212 | 1 | 380 | 0.0026 | 0 | c.257 others(5): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
C2orf73_chr2_54325884_54366581 | 54360200 | CAG | C | frameshift_variant others(1): Show |
HIGH | HG01884.hp2 HG02451.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0036 | 5 | 414 | 0.0121 | -2 | c.506 others(9): Show |
p.Arg others(5): Show |
C2orf73 | ENSG00000177994.16 | transcript | ENST00000398634.7 | protein_coding | 5/5 | 598/1975 | 506/864 | 169/287 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
C2orf74_chr2_61157188_61169828 | 61163476 | CGCCTGTA others(4484): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG03195.hp1 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0015 | 1 | 422 | 0.0024 | -4491 | c.390 others(13): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119311705 | T | TA | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01175.hp1 HG01243.hp1 others(48): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0005 | a0001c0003t0001a0001c0003t0006a0002c0002t0002others(1): Show | a0001c0003t0001g0011a0001c0003t0001g0012a0001c0003t0001g0015others(48): Show | 51 | 354 | 0.1441 | 1 | c.223 others(6): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119311706 | A | G | splice_region_variant others(1): Show |
LOW | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 | 1 | 354 | 0.0028 | 0 | c.223 others(5): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119311710 | A | G | splice_region_variant others(1): Show |
LOW | HG02055.hp2 HG02559.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0001g0318others(3): Show | 6 | 354 | 0.0170 | 0 | c.223 others(5): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
C2orf76_chr2_119297225_119371834 | 119321155 | A | G | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01243.hp1 HG01243.hp2 others(46): Show |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0001a0001c0003t0006a0004c0005t0001 | a0001c0003t0001g0011a0001c0003t0001g0012a0001c0003t0001g0015others(46): Show | 49 | 354 | 0.1384 | 0 | c.183 others(3): Show |
p.Tyr others(5): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 3/6 | 240/685 | 183/381 | 61/126 | chr2 | TogoVar | ||
C2orf76_chr2_119297225_119371834 | 119321202 | T | C | missense_variant others(1): Show |
MODERATE | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(232): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(228): Show | 235 | 354 | 0.6638 | 0 | c.136 others(3): Show |
p.Ile others(5): Show |
C2orf76 | ENSG00000186132.15 | transcript | ENST00000334816.12 | protein_coding | 3/6 | 193/685 | 136/381 | 46/126 | chr2 | TogoVar | ||
C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0001a0003c0002t0002g0021 | 6 | 212 | 0.0283 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73784414 | G | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 | 1 | 212 | 0.0047 | 0 | c.97+ others(4): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208171988 | T | C | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(283): Show |
a0001a0004a0007 | a0001c0001a0001c0004a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0016others(267): Show | 286 | 342 | 0.8363 | 0 | c.454 others(3): Show |
p.Ser others(6): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 7/9 | 607/1195 | 454/582 | 152/193 | chr2 | TogoVar | ||
C2orf80_chr2_208160347_208195030 | 208180821 | TA | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02280.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0271others(1): Show | 4 | 342 | 0.0117 | -1 | c.295 others(6): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 5/8 | chr2 | TogoVar | ||||||
C2orf92_chr2_97664713_97708066 | 97675925 | TTTGGTAA others(49): Show |
T | splice_donor_variant others(2): Show |
HIGH | NA18966.hp2 | a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0094 | 1 | 310 | 0.0032 | -56 | c.232 others(68): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf92_chr2_97664713_97708066 | 97701148 | ATTTAGAT others(31): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02895.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0172 | 1 | 310 | 0.0032 | -38 | c.515 others(47): Show |
p.Asp others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 7/8 | 515/798 | 172/265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C2orf92_chr2_97664713_97708066 | 97701308 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(188): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0019others(144): Show | 191 | 310 | 0.6161 | 0 | c.665 others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6678463 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00544.hp1 HG00621.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0027others(23): Show | 27 | 370 | 0.0730 | 0 | c.463 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 38/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6679500 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(172): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0004others(30): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(31): Show | a0001c0001t0001g0123a0001c0002t0001g0016a0001c0002t0001g0073others(167): Show | 175 | 370 | 0.4730 | 0 | c.445 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 36/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6679501 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0230 | 2 | 370 | 0.0054 | 0 | c.445 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 36/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6684842 | G | A | splice_region_variant others(1): Show |
LOW | HG02451.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0348 | 1 | 370 | 0.0027 | 0 | c.397 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 30/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6690731 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(25): Show |
a0001a0003 | a0001c0008a0001c0009a0001c0017others(10): Show | a0001c0008t0001a0001c0009t0001a0001c0017t0001others(10): Show | a0001c0008t0001g0197a0001c0009t0001g0003a0001c0009t0001g0015others(24): Show | 28 | 370 | 0.0757 | 0 | c.339 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 26/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6690733 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(25): Show |
a0001a0003 | a0001c0008a0001c0009a0001c0017others(10): Show | a0001c0008t0001a0001c0009t0001a0001c0017t0001others(10): Show | a0001c0008t0001g0197a0001c0009t0001g0003a0001c0009t0001g0015others(24): Show | 28 | 370 | 0.0757 | 0 | c.339 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 26/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6690735 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00733.hp1 others(25): Show |
a0001a0003 | a0001c0008a0001c0009a0001c0017others(10): Show | a0001c0008t0001a0001c0009t0001a0001c0017t0001others(10): Show | a0001c0008t0001g0197a0001c0009t0001g0003a0001c0009t0001g0015others(24): Show | 28 | 370 | 0.0757 | 0 | c.339 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 26/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6694639 | A | G | splice_region_variant others(1): Show |
LOW | HG02080.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0329 | 1 | 370 | 0.0027 | 0 | c.295 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 23/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6696586 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(272): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(45): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0026others(266): Show | 275 | 370 | 0.7432 | 0 | c.286 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 22/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6702587 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(53): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0026others(295): Show | 305 | 370 | 0.8243 | 0 | c.224 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 17/40 | chr19 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6712253 | G | T | splice_region_variant others(1): Show |
LOW | HG02004.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0036 | 1 | 370 | 0.0027 | 0 | c.126 others(6): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 11/40 | chr19 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14683196 | G | A | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG01891.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0233a0001c0009t0001g0234a0001c0009t0001g0235others(1): Show | 4 | 380 | 0.0105 | 0 | c.483 others(3): Show |
p.Ser others(6): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 3/17 | 893/3286 | 483/2715 | 161/904 | chr3 | TogoVar | ||
C3orf20_chr3_14670141_14778036 | 14727027 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(131): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0009a0001c0021others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0007a0001c0001t0001g0113a0001c0001t0001g0114others(129): Show | 134 | 380 | 0.3526 | 0 | c.169 others(6): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 11/16 | chr3 | TogoVar | ||||||
C3orf49_chr3_63814299_63853636 | 63831107 | T | C | splice_region_variant others(1): Show |
LOW | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 388 | 0.0026 | 0 | c.571 others(5): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112113145 | G | A | missense_variant others(1): Show |
MODERATE | HG01081.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0065 | 1 | 372 | 0.0027 | 0 | c.649 others(3): Show |
p.Glu others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 5/6 | 668/2237 | 649/654 | 217/217 | chr3 | TogoVar | ||
C3orf84_chr3_49172634_49196858 | 49188964 | ATTTTTTT others(1699): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0127 | 1 | 306 | 0.0033 | -1706 | c.28- others(15): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
C3orf85_chr3_109131719_109156401 | 109148390 | T | C | splice_region_variant others(1): Show |
LOW | HG01496.hp2 HG01943.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 5 | 370 | 0.0135 | 0 | c.183 others(5): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
C4A_chr6_31977057_32007681 | 31982917 | G | A | missense_variant others(1): Show |
MODERATE | NA18945.hp1 NA18993.hp2 NA19003.hp1 |
a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0034a0012c0017t0001g0103 | 3 | 322 | 0.0093 | 0 | c.464 others(3): Show |
p.Arg others(6): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 3/41 | 515/5427 | 464/5235 | 155/1744 | chr6 | TogoVar | ||
C4A_chr6_31977057_32007681 | 31991593 | C | T | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG00735.hp2 HG00741.hp1 others(79): Show |
a0001a0005a0012others(9): Show | a0001c0002a0001c0003a0001c0010others(13): Show | a0001c0002t0001a0001c0003t0001a0001c0010t0001others(13): Show | a0001c0002t0001g0004a0001c0002t0001g0013a0001c0002t0001g0016others(33): Show | 82 | 322 | 0.2547 | 0 | c.134 others(6): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 11/40 | chr6 | TogoVar | ||||||
C4A_chr6_31977057_32007681 | 31991912 | A | G | missense_variant others(1): Show |
MODERATE | HG02965.hp1 | a0033 | a0033c0039 | a0033c0039t0001 | a0033c0039t0001g0024 | 1 | 322 | 0.0031 | 0 | c.152 others(4): Show |
p.Met others(6): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 12/41 | 1573/5427 | 1522/5235 | 508/1744 | chr6 | TogoVar | ||
C4A_chr6_31977057_32007681 | 31998998 | T | G | splice_region_variant others(1): Show |
LOW | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 322 | 0.0031 | 0 | c.423 others(6): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 32/40 | chr6 | TogoVar | ||||||
C4A_chr6_31977057_32007681 | 31999298 | C | T | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01074.hp1 HG01099.hp1 others(13): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0001a0005c0008t0001 | a0001c0002t0001g0013a0001c0002t0001g0016a0001c0002t0001g0032others(5): Show | 16 | 322 | 0.0497 | 0 | c.441 others(6): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 33/40 | chr6 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207104434 | G | A | splice_region_variant others(1): Show |
LOW | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 342 | 0.0029 | 0 | c.-26 others(5): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207088949 | A | G | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0051a0001c0002t0001g0126others(7): Show | 15 | 388 | 0.0387 | 0 | c.-51 others(5): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207090484 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(186): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(47): Show | 189 | 388 | 0.4871 | 0 | c.232 others(5): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207091828 | C | A | splice_region_variant others(1): Show |
LOW | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 388 | 0.0026 | 0 | c.409 others(5): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
C4B_chr6_32009795_32040418 | 32024331 | C | T | splice_region_variant others(1): Show |
LOW | HG00558.hp1 HG00735.hp2 HG00738.hp2 others(67): Show |
a0001a0002a0007others(8): Show | a0001c0003a0001c0008a0001c0013others(11): Show | a0001c0003t0001a0001c0008t0001a0001c0013t0001others(11): Show | a0001c0003t0001g0002a0001c0003t0001g0004a0001c0003t0001g0029others(30): Show | 70 | 334 | 0.2096 | 0 | c.134 others(6): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 11/40 | chr6 | TogoVar | ||||||
C4B_chr6_32009795_32040418 | 32024780 | C | T | splice_region_variant others(1): Show |
LOW | HG01952.hp2 HG02027.hp2 HG02132.hp2 others(11): Show |
a0008a0011 | a0008c0010a0011c0016 | a0008c0010t0001a0011c0016t0001 | a0008c0010t0001g0010a0011c0016t0001g0019 | 14 | 334 | 0.0419 | 0 | c.152 others(6): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 12/40 | chr6 | TogoVar |