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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAMDC2_chr9_70038848_70231972 | 70221380 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0269 |
2 | 18 | 0.1111 | 48 | c.191 others(67): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MAML3_chr4_139711753_140159184 | 140074199 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01496.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0011a0001c0023others(7): Show | a0001c0002t0001a0001c0011t0005a0001c0023t0002others(7): Show | a0001c0002t0001g0098 a0001c0011t0005g0059 a0001c0023t0002g0079 others(9): Show |
12 | 71 | 0.1690 | 48 | c.468 others(67): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140074199 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02523.hp2 NA18939.hp2 |
a0001a0002a0013 | a0001c0004a0002c0003a0013c0025 | a0001c0004t0001a0002c0003t0003a0013c0025t0003 | a0001c0004t0001g0021 a0002c0003t0003g0089 a0013c0025t0003g0060 |
3 | 62 | 0.0484 | 48 | c.468 others(67): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140104378 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18991.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0006 | a0001c0001t0009g0132 a0002c0003t0006g0137 |
2 | 149 | 0.0134 | 48 | c.468 others(67): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150404051 | A | AAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18906.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0002c0002t0002g0020 |
3 | 159 | 0.0189 | 48 | c.-64 others(67): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117458485 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0017 | 1 | 353 | 0.0028 | 48 | c.951 others(65): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66469693 | G | GACACACA others(41): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02145.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0119 others(3): Show |
6 | 194 | 0.0309 | 48 | c.569 others(67): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66469723 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18993.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0060 a0001c0001t0002g0084 a0001c0001t0002g0091 others(1): Show |
4 | 255 | 0.0157 | 48 | c.569 others(67): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K1_chr15_66381912_66496544 | 66469723 | C | CACACACA others(41): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0052 a0001c0001t0003g0206 |
2 | 253 | 0.0079 | 48 | c.569 others(67): Show |
MAP2K1 | ENSG00000169032.11 | transcript | ENST00000307102.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K5_chr15_67537703_67812114 | 67590468 | T | TCTCTCTC others(41): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 8 | 0.1250 | 48 | c.432 others(65): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MAP2K6_chr17_69409697_69558865 | 69491108 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004a0001c0002t0006others(2): Show | a0001c0001t0002g0047 a0001c0002t0004g0203 a0001c0002t0006g0045 others(3): Show |
6 | 232 | 0.0259 | 48 | c.17- others(65): Show |
MAP2K6 | ENSG00000108984.16 | transcript | ENST00000590474.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MAP2_chr2_209419047_209739112 | 209434922 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG03225.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0006 | a0001c0001t0003g0074 a0001c0003t0006g0023 |
2 | 141 | 0.0142 | 48 | c.-22 others(69): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185453984 | T | TATATATG others(41): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 266 | 0.0038 | 48 | c.127 others(67): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185454789 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02074.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0003t0008a0001c0003t0037others(1): Show | a0001c0001t0006g0004 a0001c0003t0008g0015 a0001c0003t0008g0221 others(2): Show |
5 | 72 | 0.0694 | 48 | c.127 others(67): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0042 | 1 | 6 | 0.1667 | 48 | c.160 others(67): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K5_chr6_136552046_136797477 | 136737041 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 156 | 0.0064 | 48 | c.449 others(67): Show |
MAP3K5 | ENSG00000197442.11 | transcript | ENST00000359015.5 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
MAP3K5_chr6_136552046_136797477 | 136769793 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 49 | 0.0204 | 48 | c.448 others(67): Show |
MAP3K5 | ENSG00000197442.11 | transcript | ENST00000359015.5 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
MAP7D2_chrX_20001713_20121907 | 20121799 | T | TAAGAATC others(41): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 208 | 0.0048 | 48 | c.-49 others(59): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 4893 | chrX | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136456822 | G | GAAGAAGA others(41): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0146 | 1 | 114 | 0.0088 | 48 | c.68- others(65): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(94): Show |
a0001a0008a0011others(1): Show | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(47): Show |
97 | 332 | 0.2922 | 48 | c.-12 others(59): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 2 | 237 | 0.0084 | 48 | c.-12 others(59): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378002 | T | TATTGTAT others(41): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 236 | 0.0042 | 48 | c.-12 others(59): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1038 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155378016 | T | TAATATAT others(41): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 313 | 0.0032 | 48 | c.-13 others(59): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1052 | chr4 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50265888 | A | ACCCCCAC others(41): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 424 | 0.0024 | 48 | c.763 others(63): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 9/11 | chr22 | TogoVar | |||||||
MAPK12_chr22_50247901_50266683 | 50265888 | A | ACCCCCAC others(41): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 439 | 0.0023 | 48 | c.-44 others(59): Show |
MAPK12 | ENSG00000188130.14 | transcript | ENST00000215659.13 | protein_coding | 4206 | chr22 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 45941680 | C | CCCCTTCC others(41): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 229 | 0.0044 | 48 | c.-17 others(67): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 45941685 | T | TCCTTCCT others(41): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19054.hp2 NA19070.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0232 a0001c0001t0003g0240 a0002c0002t0003g0075 |
3 | 163 | 0.0184 | 48 | c.-17 others(67): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163894671 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0003 | a0001c0001t0013g0015 a0001c0002t0003g0016 |
2 | 10 | 0.2000 | 48 | c.-38 others(67): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164363145 | G | GATTCTAT others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0013 | 1 | 102 | 0.0098 | 48 | c.-32 others(69): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCO_chr2_118937194_118999660 | 118986652 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 255 | 0.0039 | 48 | c.106 others(67): Show |
MARCO | ENSG00000019169.11 | transcript | ENST00000327097.5 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493663 | A | ATATATTA others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03225.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 a0001c0003t0001g0178 |
2 | 276 | 0.0072 | 48 | c.770 others(65): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MAST1_chr19_12833515_12879952 | 12861680 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG03195.hp2 |
a0001 | a0001c0005a0001c0016 | a0001c0005t0001a0001c0016t0001 | a0001c0005t0001g0022 a0001c0005t0001g0030 a0001c0016t0001g0016 |
3 | 46 | 0.0652 | 48 | c.136 others(67): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18093344 | A | ATATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0092 | 1 | 289 | 0.0035 | 48 | c.-44 others(59): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 4433 | chr19 | TogoVar | |||||||
MATCAP2_chr7_36319152_36372240 | 36343435 | G | GGAGGGGA others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0242 a0001c0001t0006g0243 a0001c0001t0006g0245 others(2): Show |
5 | 295 | 0.0169 | 48 | c.715 others(65): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54181843 | G | GAGGGAGG others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0001 | a0001c0001t0005g0359 a0001c0005t0001g0163 a0001c0005t0001g0164 others(1): Show |
4 | 113 | 0.0354 | 48 | c.494 others(63): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975154 | C | CCTTTTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02523.hp2 NA18948.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0007g0341 a0001c0002t0001g0129 a0001c0002t0002g0263 others(1): Show |
4 | 260 | 0.0154 | 48 | c.*52 others(59): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3678 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0211 | 1 | 137 | 0.0073 | 48 | c.*41 others(59): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179481 | A | ATTATATA others(41): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 307 | 0.0033 | 48 | c.*10 others(59): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1094 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG02083.hp2 HG03491.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0240 a0001c0001t0001g0248 a0001c0001t0005g0200 |
3 | 253 | 0.0119 | 48 | c.*10 others(59): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 251 | 0.0040 | 48 | c.*10 others(59): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | ||||||
MBTPS2_chrX_21834617_21890423 | 21888810 | G | GTATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG02735.hp1 HG03492.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 a0001c0002t0002g0083 a0001c0002t0002g0093 others(3): Show |
7 | 209 | 0.0335 | 48 | c.*61 others(59): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 3388 | chrX | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21888810 | G | GTATATAT others(41): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 203 | 0.0049 | 48 | c.*61 others(59): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 3388 | chrX | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21888810 | G | GTATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03516.hp2 NA19007.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 a0001c0002t0002g0078 a0001c0002t0002g0117 |
3 | 205 | 0.0146 | 48 | c.*61 others(59): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 3388 | chrX | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 39 | 0.0256 | 48 | c.-25 others(59): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113132427 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | NA18955.hp1 NA18983.hp2 NA19074.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0127 a0002c0001t0002g0145 a0002c0001t0002g0146 |
3 | 88 | 0.0341 | 48 | c.885 others(65): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 5/18 | chr5 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(41): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02155.hp1 HG02155.hp2 others(1): Show |
a0004a0027 | a0004c0004a0027c0024 | a0004c0004t0001a0004c0004t0012a0027c0024t0003 | a0004c0004t0001g0072 a0004c0004t0001g0135 a0004c0004t0012g0019 others(1): Show |
4 | 52 | 0.0769 | 48 | c.130 others(67): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113061809 | T | TCCCCCTT others(41): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0111 | 1 | 114 | 0.0088 | 48 | c.489 others(65): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113091619 | G | GCCGACCC others(41): Show |
intron_variant | MODIFIER | HG02300.hp1 NA18950.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0012a0003c0009t0010 | a0001c0001t0012g0053 a0003c0009t0010g0115 |
2 | 114 | 0.0175 | 48 | c.295 others(67): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCM5_chr22_35395140_35430431 | 35416462 | C | CTCAGGCT others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0010 | a0001c0010t0013 | a0001c0010t0013g0070 | 1 | 402 | 0.0025 | 48 | c.141 others(65): Show |
MCM5 | ENSG00000100297.16 | transcript | ENST00000216122.9 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MCM9_chr6_118808455_118940159 | 118843642 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 a0001c0001t0001g0321 |
2 | 338 | 0.0059 | 48 | c.132 others(69): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar |