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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 HG01243.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0018 | a0001c0001t0003a0001c0001t0004a0001c0006t0005others(1): Show | a0001c0001t0003g0046 a0001c0001t0003g0290 a0001c0001t0004g0297 others(2): Show |
5 | 243 | 0.0206 | 26 | c.280 others(43): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTTTCTCT others(19): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 239 | 0.0042 | 26 | c.280 others(43): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 |
a0002a0003 | a0002c0008a0003c0015 | a0002c0008t0045a0003c0015t0005 | a0002c0008t0045g0226 a0003c0015t0005g0361 |
2 | 117 | 0.0171 | 26 | c.280 others(43): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0004a0001c0005a0001c0014others(1): Show | a0001c0004t0009a0001c0004t0017a0001c0005t0005others(2): Show | a0001c0004t0009g0223 a0001c0004t0017g0232 a0001c0005t0005g0001 others(2): Show |
6 | 121 | 0.0496 | 26 | c.280 others(43): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 others(31): Show |
34 | 149 | 0.2282 | 26 | c.280 others(43): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74049891 | C | CCAAGTAG others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02055.hp1 others(16): Show |
a0006a0011a0013others(2): Show | a0006c0008a0006c0012a0011c0015others(3): Show | a0006c0008t0001a0006c0012t0001a0011c0015t0001others(3): Show | a0006c0008t0001g0229 a0006c0008t0001g0236 a0006c0008t0001g0237 others(15): Show |
19 | 316 | 0.0601 | 26 | c.515 others(43): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 26/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74107322 | T | TCTCACAC others(19): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0031 | a0031c0025 | a0031c0025t0001 | a0031c0025t0001g0222 | 1 | 208 | 0.0048 | 26 | c.196 others(43): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 12/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117049 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 312 | 0.0032 | 26 | c.152 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117117 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 305 | 0.0033 | 26 | c.152 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117145 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0035 | 1 | 303 | 0.0033 | 26 | c.152 others(45): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117361 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0181 | 1 | 20 | 0.0500 | 26 | c.152 others(43): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74146710 | C | CCACACAC others(19): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0040 | a0025c0040t0001 | a0025c0040t0001g0301 | 1 | 200 | 0.0050 | 26 | c.484 others(43): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
C2CD6_chr2_201482421_201624178 | 201581551 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0015 | 1 | 268 | 0.0037 | 26 | c.639 others(41): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 5/15 | chr2 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922029 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02155.hp2 NA18612.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0012g0043 |
4 | 392 | 0.0102 | 26 | c.334 others(43): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01978.hp2 HG02040.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0003g0160 a0001c0001t0003g0166 a0001c0001t0005g0052 others(12): Show |
19 | 81 | 0.2346 | 26 | c.334 others(43): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf72_chr2_231032523_231054719 | 231044945 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0065 | 1 | 178 | 0.0056 | 26 | c.749 others(43): Show |
C2orf72 | ENSG00000204128.6 | transcript | ENST00000373640.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3orf20_chr3_14670141_14778036 | 14686193 | C | CGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 a0001c0001t0004g0127 |
2 | 96 | 0.0208 | 26 | c.625 others(43): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155770962 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0363 | 1 | 48 | 0.0208 | 26 | c.323 others(43): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
C3orf38_chr3_88144959_88162965 | 88162142 | G | GAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 31 | 0.0323 | 26 | c.*55 others(37): Show |
C3orf38 | ENSG00000179021.10 | transcript | ENST00000318887.8 | protein_coding | 4178 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185073970 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0057 a0001c0001t0005g0070 |
2 | 126 | 0.0159 | 26 | c.*90 others(37): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2867 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185079280 | C | CAAAAAAA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0072 | a0002c0002t0072g0250 | 1 | 256 | 0.0039 | 26 | c.*37 others(37): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 2/2 | 3726 | chr3 | TogoVar | ||||||
C3orf70_chr3_185071838_185158060 | 185139156 | G | GAAGGAGG others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0028others(6): Show | a0001c0001t0011g0351 a0001c0001t0011g0352 a0001c0001t0011g0354 others(12): Show |
15 | 385 | 0.0390 | 26 | c.196 others(45): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf84_chr3_49172634_49196858 | 49194292 | G | GTATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 NA18963.hp2 NA19065.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 3 | 66 | 0.0455 | 26 | c.-25 others(37): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2435 | chr3 | TogoVar | |||||||
C3orf85_chr3_109131719_109156401 | 109137637 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18951.hp2 NA18964.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 a0001c0002t0001g0111 |
4 | 71 | 0.0563 | 26 | c.49+ others(39): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37508683 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp2 NA18522.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0020a0001c0001t0032others(2): Show | a0001c0001t0005g0164 a0001c0001t0020g0163 a0001c0001t0032g0008 others(2): Show |
5 | 144 | 0.0347 | 26 | c.-72 others(45): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37596709 | C | CATATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 276 | 0.0036 | 26 | c.*57 others(37): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3200 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG03669.hp2 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0008 | a0001c0001t0001g0075 a0001c0001t0007g0236 a0002c0002t0008g0068 |
3 | 175 | 0.0171 | 26 | c.*57 others(37): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG03490.hp2 HG03492.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(1): Show | a0001c0001t0002g0259 a0001c0001t0003g0257 a0001c0001t0019g0345 others(2): Show |
6 | 178 | 0.0337 | 26 | c.*57 others(37): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 NA18989.hp2 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0044 a0001c0001t0002g0074 a0001c0001t0002g0315 others(1): Show |
4 | 176 | 0.0227 | 26 | c.*57 others(37): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596736 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02132.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0004 | a0001c0001t0002g0267 a0002c0002t0004g0166 |
2 | 174 | 0.0115 | 26 | c.*57 others(37): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3227 | chr4 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18952.hp1 NA18959.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0201 |
4 | 58 | 0.0690 | 26 | c.715 others(43): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18955.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 56 | 0.0357 | 26 | c.715 others(43): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(19): Show |
upstream_gene_variant | MODIFIER | HG03834.hp2 NA18947.hp1 NA19001.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0030 others(1): Show |
4 | 108 | 0.0370 | 26 | c.-50 others(37): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00735.hp2 others(25): Show |
a0003a0005a0007others(3): Show | a0003c0003a0005c0005a0007c0007others(3): Show | a0003c0003t0003a0005c0005t0003a0007c0007t0006others(3): Show | a0003c0003t0003g0215 a0003c0003t0003g0220 a0003c0003t0003g0223 others(25): Show |
28 | 140 | 0.2000 | 26 | c.216 others(43): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148595630 | C | CATCTATA others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02165.hp2 HG02523.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0006c0007t0002 | a0001c0001t0001g0297 a0001c0001t0002g0001 a0001c0001t0002g0005 others(5): Show |
11 | 305 | 0.0361 | 26 | c.204 others(43): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016161 | A | ACATAGCA others(19): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0291 | 1 | 206 | 0.0049 | 26 | c.130 others(43): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1039064 | G | GGGTCAGC others(19): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 324 | 0.0031 | 26 | c.130 others(45): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1050678 | T | TGCGATTT others(19): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 324 | 0.0031 | 26 | c.130 others(45): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051821 | T | TCTCTTCT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18939.hp2 NA18945.hp2 others(7): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004 | a0002c0001t0002g0015 a0002c0001t0002g0043 a0002c0001t0002g0268 others(5): Show |
10 | 312 | 0.0321 | 26 | c.606 others(41): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68466738 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 40 | 0.0250 | 26 | c.608 others(43): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68466765 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0021 | 1 | 110 | 0.0091 | 26 | c.608 others(43): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68774327 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01358.hp2 HG02109.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(5): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0039 others(9): Show |
12 | 92 | 0.1304 | 26 | c.140 others(45): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68774329 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 67 | 0.0149 | 26 | c.140 others(45): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0003t0002others(1): Show | a0001c0001t0001g0116 a0001c0001t0005g0111 a0002c0003t0002g0082 others(1): Show |
4 | 51 | 0.0784 | 26 | c.140 others(45): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794505 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0049 | 1 | 66 | 0.0152 | 26 | c.154 others(45): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90968657 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0044 a0001c0001t0001g0056 a0001c0001t0001g0154 others(7): Show |
12 | 107 | 0.1122 | 26 | c.223 others(43): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39282138 | T | TTTTCTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0024 others(30): Show |
34 | 228 | 0.1491 | 26 | c.*30 others(37): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2001 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39333616 | T | TGGTCTCC others(19): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(11): Show |
14 | 236 | 0.0593 | 26 | c.477 others(43): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG02622.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0354 a0002c0002t0001g0355 a0002c0002t0001g0356 |
3 | 80 | 0.0375 | 26 | c.77+ others(41): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39359102 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18953.hp2 NA18972.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0348 |
5 | 82 | 0.0610 | 26 | c.77+ others(41): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 1/10 | chr5 | TogoVar |