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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MARCHF5_chr10_92286167_92358964 | 92289780 | T | TATATGTA others(36): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0128 | 1 | 278 | 0.0036 | 43 | c.-17 others(54): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 1386 | chr10 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92289798 | T | TAAATGTA others(36): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0018g0081 |
3 | 304 | 0.0099 | 43 | c.-16 others(54): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 1368 | chr10 | TogoVar | |||||||
MARS1_chr12_57483068_57521652 | 57493782 | T | TTATATAT others(36): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 others(1): Show |
4 | 241 | 0.0166 | 43 | c.770 others(60): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MASP1_chr3_187212282_187296737 | 187292543 | T | TAAAAAAA others(36): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 382 | 0.0026 | 43 | c.-91 others(52): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000337774.10 | protein_coding | 807 | chr3 | TogoVar | |||||||
MASP1_chr3_187229082_187296737 | 187292543 | T | TAAAAAAA others(36): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 398 | 0.0025 | 43 | c.-91 others(52): Show |
MASP1 | ENSG00000127241.18 | transcript | ENST00000296280.11 | protein_coding | 807 | chr3 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139295772 | C | CAGTTGCA others(36): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 280 | 0.0036 | 43 | c.-17 others(62): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAX_chr14_65070127_65107517 | 65092284 | A | ACCCCCCC others(36): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 380 | 0.0026 | 43 | c.171 others(60): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148288399 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0163 | 1 | 84 | 0.0119 | 43 | c.-67 others(64): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 16 | 0.0625 | 43 | c.174 others(62): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 76975154 | C | CCTTTTCT others(36): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01496.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0186 a0001c0002t0001g0116 others(13): Show |
16 | 272 | 0.0588 | 43 | c.*52 others(54): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3678 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0205 | 1 | 137 | 0.0073 | 43 | c.*41 others(54): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(36): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0147 | 1 | 137 | 0.0073 | 43 | c.*41 others(54): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0170 | 1 | 72 | 0.0139 | 43 | c.176 others(62): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAATATAT others(36): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0172 | 1 | 72 | 0.0139 | 43 | c.176 others(62): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21888826 | A | ATACACAC others(36): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 158 | 0.0063 | 43 | c.*61 others(54): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 3404 | chrX | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21888827 | T | TATACACA others(36): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 a0001c0002t0002g0118 a0001c0002t0002g0123 |
3 | 288 | 0.0104 | 43 | c.*61 others(54): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 3405 | chrX | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 39 | 0.0256 | 43 | c.-25 others(54): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(36): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 39 | 0.0256 | 43 | c.-25 others(54): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37698244 | C | CTCTCTCG others(36): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0043 | 1 | 350 | 0.0029 | 43 | c.-14 others(54): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 362 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83237274 | A | AGAAAGAA others(36): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18973.hp2 NA19056.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0001 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0195 others(3): Show |
6 | 135 | 0.0444 | 43 | c.102 others(60): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83237274 | A | AGAAAGAA others(36): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0012 | a0001c0003t0004g0017 a0001c0003t0004g0122 a0001c0003t0012g0019 |
3 | 132 | 0.0227 | 43 | c.102 others(60): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131925496 | A | AAATAAAT others(36): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 272 | 0.0037 | 43 | c.573 others(62): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 4/7 | chr9 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131966383 | C | CAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 19 | 0.0526 | 43 | c.480 others(62): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MEOX1_chr17_43635389_43666922 | 43636753 | C | CTGAAGAG others(36): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02258.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0054 others(13): Show |
22 | 378 | 0.0582 | 43 | c.*51 others(54): Show |
MEOX1 | ENSG00000005102.14 | transcript | ENST00000318579.9 | protein_coding | 3635 | chr17 | TogoVar | |||||||
METTL15_chr11_28103388_28338507 | 28105067 | T | TATTTAAT others(36): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG02040.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 others(3): Show |
6 | 330 | 0.0182 | 43 | c.-36 others(54): Show |
METTL15 | ENSG00000169519.21 | transcript | ENST00000407364.8 | protein_coding | 3320 | chr11 | TogoVar | |||||||
METTL8_chr2_171310746_171438990 | 171326140 | C | CCTTGCAT others(36): Show |
frameshift_variant | HIGH | HG02280.hp1 HG02647.hp1 HG03540.hp1 |
a0004 | a0004c0007 | a0004c0007t0005a0004c0007t0031 | a0004c0007t0005g0235 a0004c0007t0031g0018 a0004c0007t0031g0020 |
3 | 330 | 0.0091 | 43 | c.861 others(53): Show |
p.Gly others(5): Show |
METTL8 | ENSG00000123600.21 | transcript | ENST00000375258.9 | protein_coding | 8/10 | 988/9770 | 868/1224 | 290/407 | chr2 | TogoVar | |||
MFGE8_chr15_88893683_88918379 | 88913993 | T | TAAAAAAA others(36): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 158 | 0.0063 | 43 | c.-67 others(52): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 615 | chr15 | TogoVar | |||||||
MFSD10_chr4_2925567_2939825 | 2938032 | T | TCCCCCCC others(36): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 420 | 0.0024 | 43 | c.-32 others(54): Show |
MFSD10 | ENSG00000109736.15 | transcript | ENST00000355443.9 | protein_coding | 3208 | chr4 | TogoVar | |||||||
MFSD2B_chr2_24005085_24031775 | 24005613 | G | GTTACTGC others(36): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(182): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0011a0001c0012others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(87): Show |
185 | 270 | 0.6852 | 43 | c.-44 others(54): Show |
MFSD2B | ENSG00000205639.12 | transcript | ENST00000338315.6 | protein_coding | 4471 | chr2 | TogoVar | |||||||
MFSD2B_chr2_24005085_24031775 | 24005613 | G | GTTACTGC others(36): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01074.hp2 others(41): Show |
a0001a0004a0013 | a0001c0001a0004c0004a0013c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0018 others(21): Show |
44 | 129 | 0.3411 | 43 | c.-44 others(54): Show |
MFSD2B | ENSG00000205639.12 | transcript | ENST00000338315.6 | protein_coding | 4471 | chr2 | TogoVar | |||||||
MGAM2_chr7_142106718_142227324 | 142114195 | A | AAGGAAGG others(36): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0326 | 1 | 316 | 0.0032 | 43 | c.-1+ others(58): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM2_chr7_142106718_142227324 | 142114203 | A | AAGGAAGG others(36): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0038 | a0038c0059 | a0038c0059t0001 | a0038c0059t0001g0026 | 1 | 303 | 0.0033 | 43 | c.-1+ others(58): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM2_chr7_142106718_142227324 | 142114207 | A | AAGGAAGG others(36): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0036 | 1 | 292 | 0.0034 | 43 | c.-1+ others(58): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM2_chr7_142106718_142227324 | 142114223 | A | AGGAAGGA others(36): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0309 | 1 | 272 | 0.0037 | 43 | c.-1+ others(58): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 1/47 | chr7 | TogoVar | |||||||
MGAM2_chr7_142106718_142227324 | 142133100 | A | ATTAATTT others(36): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0007 | a0007c0033 | a0007c0033t0001 | a0007c0033t0001g0155 | 1 | 328 | 0.0030 | 43 | c.576 others(58): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 6/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142045613 | T | TATTATAT others(36): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0037 | a0037c0079 | a0037c0079t0001 | a0037c0079t0001g0049 | 1 | 297 | 0.0034 | 43 | c.249 others(62): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | |||||||
MGA_chr15_41655405_41774940 | 41762461 | G | GTTTTTTT others(36): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 51 | 0.0196 | 43 | c.789 others(60): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MIB1_chr18_21735792_21875953 | 21860098 | C | CTTTTTTT others(36): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0097 | 1 | 40 | 0.0250 | 43 | c.288 others(62): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MIER2_chr19_300573_349796 | 300985 | G | GACAACAC others(36): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 369 | 0.0054 | 43 | c.*57 others(54): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 4587 | chr19 | TogoVar | |||||||
MIX23_chr3_122354591_122388231 | 122356134 | C | CTTTTTTT others(36): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007 a0001c0001t0010g0169 |
2 | 128 | 0.0156 | 43 | c.*37 others(54): Show |
MIX23 | ENSG00000160124.9 | transcript | ENST00000291458.9 | protein_coding | 3456 | chr3 | TogoVar | |||||||
MMD2_chr7_4900998_4964187 | 4945185 | T | TCTTCTTC others(36): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0336 | 1 | 17 | 0.0588 | 43 | c.47+ others(60): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
MMP17_chr12_131823393_131856771 | 131827365 | G | GGGGGGGG others(36): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 370 | 0.0027 | 43 | c.-11 others(54): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1027 | chr12 | TogoVar | |||||||
MMP17_chr12_131823393_131856771 | 131827366 | G | GGGGGGGG others(36): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 319 | 0.0031 | 43 | c.-11 others(54): Show |
MMP17 | ENSG00000198598.7 | transcript | ENST00000360564.5 | protein_coding | 1026 | chr12 | TogoVar | |||||||
MMP26_chr11_4699784_4997429 | 4734757 | T | TTTTATAT others(36): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00642.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(76): Show |
79 | 190 | 0.4158 | 43 | c.-21 others(64): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MMP26_chr11_4699784_4997429 | 4734759 | T | CTATATAA others(36): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0135 a0001c0001t0001g0148 others(2): Show |
5 | 202 | 0.0248 | 43 | c.-21 others(64): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
MMP26_chr11_4699784_4997429 | 4734790 | C | CGCATAGC others(36): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 206 | 0.0049 | 43 | c.-21 others(64): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MMP8_chr11_102706796_102729954 | 102724354 | G | GAATTTTT others(36): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 456 | 0.0022 | 43 | c.102 others(58): Show |
MMP8 | ENSG00000118113.12 | transcript | ENST00000236826.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
MMP8_chr11_102706796_102729954 | 102727024 | C | CCCCCAAA others(36): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0009 | 1 | 456 | 0.0022 | 43 | c.-21 others(54): Show |
MMP8 | ENSG00000118113.12 | transcript | ENST00000236826.8 | protein_coding | 2071 | chr11 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 168 | 0.0060 | 43 | c.226 others(60): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
MNS1_chr15_56423724_56470137 | 56460009 | A | AAAAAAAA others(36): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 168 | 0.0060 | 43 | c.226 others(60): Show |
MNS1 | ENSG00000138587.6 | transcript | ENST00000260453.4 | protein_coding | 2/9 | chr15 | TogoVar |