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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 44 | 0.0227 | 23 | c.*37 others(34): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216336742 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02129.hp2 NA19000.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005 | a0001c0002t0004g0208 a0001c0002t0005g0257 |
2 | 90 | 0.0222 | 23 | c.516 others(42): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216354984 | T | TTTCTTTC others(16): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 322 | 0.0031 | 23 | c.516 others(42): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15602623 | A | AAGGAAAG others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(294): Show |
342 | 350 | 0.9771 | 23 | c.441 others(40): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15602623 | A | AAGGAAAG others(16): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 HG02630.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0141 a0001c0001t0001g0147 others(5): Show |
11 | 19 | 0.5789 | 23 | c.441 others(40): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15613661 | C | CAATAAAT others(16): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0259 | 1 | 126 | 0.0079 | 23 | c.325 others(40): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 16/26 | chr16 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103452471 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02083.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 a0001c0001t0002g0185 a0001c0001t0002g0190 |
3 | 143 | 0.0210 | 23 | c.412 others(38): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103467674 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022 a0001c0001t0001g0267 a0001c0001t0001g0301 others(2): Show |
5 | 35 | 0.1429 | 23 | c.111 others(40): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103470455 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02738.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0001 | a0001c0001t0002g0131 a0003c0006t0001g0003 |
2 | 9 | 0.2222 | 23 | c.126 others(42): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103481757 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 6 | 0.1667 | 23 | c.158 others(42): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARVELD2_chr5_69410116_69449330 | 69444009 | T | TAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01070.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0017a0002c0002t0003others(4): Show | a0001c0001t0003g0037 a0001c0001t0003g0129 a0001c0001t0003g0130 others(47): Show |
53 | 114 | 0.4649 | 23 | c.*23 others(34): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 7/7 | 2369 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MASP2_chr1_11021523_11052239 | 11034603 | C | CAGGAGGA others(16): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0208 | 1 | 344 | 0.0029 | 23 | c.108 others(40): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
MAST1_chr19_12833515_12879952 | 12868103 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 others(2): Show |
5 | 79 | 0.0633 | 23 | c.256 others(40): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 20/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0166 | 1 | 2 | 0.5000 | 23 | c.500 others(40): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45939988 | T | TTTTTGTT others(16): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0112 | 1 | 286 | 0.0035 | 23 | c.501 others(42): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45939989 | T | TTTTGTTT others(16): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03017.hp1 NA19062.hp1 |
a0002a0003a0017 | a0002c0002a0003c0003a0017c0023 | a0002c0002t0001a0003c0003t0001a0017c0023t0001 | a0002c0002t0001g0024 a0003c0003t0001g0113 a0017c0023t0001g0130 |
3 | 172 | 0.0174 | 23 | c.501 others(42): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45939989 | T | TTTTTGTT others(16): Show |
intron_variant | MODIFIER | NA18977.hp2 NA19001.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0071 |
2 | 171 | 0.0117 | 23 | c.501 others(42): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18100128 | C | CTCTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 others(11): Show |
14 | 127 | 0.1102 | 23 | c.39+ others(38): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66847820 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 a0001c0001t0008g0078 |
2 | 46 | 0.0435 | 23 | c.643 others(42): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAT2B_chr5_163500619_163524354 | 163502028 | A | AAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 304 | 0.0033 | 23 | c.-36 others(34): Show |
MAT2B | ENSG00000038274.18 | transcript | ENST00000321757.11 | protein_coding | 3590 | chr5 | TogoVar | |||||||
MATCAP2_chr7_36319152_36372240 | 36337098 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 21 | 0.0952 | 23 | c.715 others(38): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
MATN1_chr1_30706277_30728585 | 30728234 | C | CAGCCCTC others(16): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0012 | 1 | 438 | 0.0023 | 23 | c.-46 others(34): Show |
MATN1 | ENSG00000162510.6 | transcript | ENST00000373765.5 | protein_coding | 4650 | chr1 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 98037419 | T | TATATATA others(16): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0301 | 1 | 315 | 0.0032 | 23 | c.*17 others(34): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 696 | chr8 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010066 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0260 | 1 | 422 | 0.0024 | 23 | c.223 others(40): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0252 a0001c0003t0001g0253 |
2 | 5 | 0.4000 | 23 | c.223 others(40): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAGAAAAA others(16): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0249 | 1 | 4 | 0.2500 | 23 | c.223 others(40): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01516.hp2 HG01934.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002 | a0001c0001t0001a0001c0001t0010a0002c0003t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0123 others(8): Show |
17 | 24 | 0.7083 | 23 | c.-34 others(38): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139290438 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 4 | 0.2500 | 23 | c.-35 others(34): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 3301 | chr5 | TogoVar | |||||||
MAVS_chr20_3841834_3881118 | 3851990 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03453.hp2 |
a0006 | a0006c0008a0006c0026 | a0006c0008t0018a0006c0008t0027a0006c0026t0018 | a0006c0008t0018g0014 a0006c0008t0027g0309 a0006c0026t0018g0302 |
3 | 345 | 0.0087 | 23 | c.-67 others(40): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MBD2_chr18_54146606_54229669 | 54180897 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0248 | 1 | 111 | 0.0090 | 23 | c.840 others(40): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7060179 | G | GTTTGTAG others(16): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 23 | c.-15 others(34): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1504 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035426 | A | AATTATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 246 | 0.0041 | 23 | c.*25 others(34): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2416 | chr19 | TogoVar | |||||||
MBD3_chr19_1568596_1597865 | 1591446 | G | GGAGCGGT others(16): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0115 | 1 | 398 | 0.0025 | 23 | c.110 others(40): Show |
MBD3 | ENSG00000071655.18 | transcript | ENST00000434436.8 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148288399 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02965.hp1 HG03098.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0044 a0001c0001t0001g0123 a0001c0001t0002g0099 others(6): Show |
9 | 92 | 0.0978 | 23 | c.-67 others(44): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148296864 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0074 | 1 | 18 | 0.0556 | 23 | c.-67 others(44): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148366301 | A | AAACTATT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(101): Show |
104 | 186 | 0.5591 | 23 | c.-55 others(44): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBLAC1_chr7_100121967_100133495 | 100126755 | G | GGTATGAT others(16): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | 23 | c.-33 others(32): Show |
MBLAC1 | ENSG00000214309.5 | transcript | ENST00000398075.4 | protein_coding | 211 | chr7 | TogoVar | |||||||
MBLAC2_chr5_90453209_90479771 | 90478569 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 96 | 0.0104 | 23 | c.-42 others(34): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 3799 | chr5 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20192995 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0016 | 1 | 76 | 0.0132 | 23 | c.99+ others(40): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975154 | C | CCTTTTCT others(16): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0022g0014 a0001c0002t0001g0089 a0001c0002t0001g0099 others(3): Show |
6 | 262 | 0.0229 | 23 | c.*52 others(34): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3678 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77057824 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0013 | 1 | 297 | 0.0034 | 23 | c.139 others(40): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77093107 | C | CAGAGCCC others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0026 others(199): Show |
204 | 382 | 0.5340 | 23 | c.51+ others(40): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 137 | 0.0073 | 23 | c.*41 others(34): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 137 | 0.0073 | 23 | c.*41 others(34): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0025 | 1 | 137 | 0.0073 | 23 | c.*41 others(34): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179496 | A | ATATTTTT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0332 a0001c0001t0028g0333 |
2 | 334 | 0.0060 | 23 | c.*10 others(34): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1079 | chr17 | TogoVar | ||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 1 | 218 | 0.0046 | 23 | c.-22 others(34): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC1R_chr16_89913862_89925972 | 89916992 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 1 | 218 | 0.0046 | 23 | c.-22 others(34): Show |
MC1R | ENSG00000258839.4 | transcript | ENST00000555147.2 | protein_coding | 1869 | chr16 | TogoVar | |||||||
MC2R_chr18_13877044_13920536 | 13908706 | T | TTTGTGTG others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 a0001c0001t0002g0273 |
2 | 91 | 0.0220 | 23 | c.-12 others(42): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 1/1 | chr18 | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(16): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 39 | 0.0256 | 23 | c.-25 others(34): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar |