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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAP3K20_chr2_173070846_173273015 | 173134428 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0027 a0001c0001t0008g0098 |
2 | 7 | 0.2857 | 42 | c.160 others(61): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K2_chr2_127293668_127392975 | 127387398 | G | GCGCGCGC others(35): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02922.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0026 | a0001c0001t0016g0138 a0001c0001t0026g0137 a0001c0001t0026g0139 |
3 | 6 | 0.5000 | 42 | c.-66 others(55): Show |
MAP3K2 | ENSG00000169967.17 | transcript | ENST00000682094.1 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
MAP4K4_chr2_101692707_101899690 | 101785735 | T | TCTCTCTC others(35): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 296 | 0.0034 | 42 | c.124 others(59): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP4_chr3_47845695_48021416 | 47863937 | T | TGTGTGTG others(35): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0010 | a0010c0013 | a0010c0013t0010 | a0010c0013t0010g0222 | 1 | 141 | 0.0071 | 42 | c.650 others(61): Show |
MAP4 | ENSG00000047849.22 | transcript | ENST00000683076.1 | protein_coding | 17/20 | chr3 | TogoVar | |||||||
MAP6_chr11_75581918_75674038 | 75673386 | C | CTTTTTTT others(35): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 83 | 0.0120 | 42 | c.-50 others(53): Show |
MAP6 | ENSG00000171533.12 | transcript | ENST00000304771.8 | protein_coding | 4349 | chr11 | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136456822 | G | GAAGAAGA others(35): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0164 |
2 | 115 | 0.0174 | 42 | c.68- others(59): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136456822 | G | GAAGAAGA others(35): Show |
intron_variant | MODIFIER | NA18978.hp1 NA19012.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0165 a0001c0001t0001g0173 |
3 | 116 | 0.0259 | 42 | c.68- others(59): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136456822 | G | GAAGAAGA others(35): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0012 a0003c0003t0003g0025 |
2 | 115 | 0.0174 | 42 | c.68- others(59): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
MAPK6_chr15_52014219_52072375 | 52016070 | G | GCGCGCAA others(35): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0037 | 1 | 62 | 0.0161 | 42 | c.-39 others(53): Show |
MAPK6 | ENSG00000069956.14 | transcript | ENST00000261845.7 | protein_coding | 3148 | chr15 | TogoVar | |||||||
MAPK8IP2_chr22_50595793_50618978 | 50612863 | T | TCCCGCCC others(35): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(233): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(75): Show |
236 | 345 | 0.6841 | 42 | c.*21 others(53): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 12/12 | 2123 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MAPK8IP2_chr22_50595793_50618978 | 50612863 | T | TCCCGCCC others(35): Show |
3_prime_UTR_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0016 | 1 | 110 | 0.0091 | 42 | c.*20 others(53): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 12/12 | 2092 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MAPK8IP2_chr22_50595793_50618978 | 50612883 | G | GCCCCGCC others(35): Show |
3_prime_UTR_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0069 | 1 | 436 | 0.0023 | 42 | c.*21 others(53): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 12/12 | 2123 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MAPK9_chr5_180228143_180297083 | 180288519 | C | CGAAGTGT others(35): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 370 | 0.0027 | 42 | c.-48 others(59): Show |
MAPK9 | ENSG00000050748.18 | transcript | ENST00000452135.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125693663 | A | ATATACAC others(35): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01255.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(1): Show | a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 others(29): Show |
32 | 273 | 0.1172 | 42 | c.-70 others(61): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125693688 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 203 | 0.0049 | 42 | c.-70 others(61): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
MAPT_chr17_45889554_46033334 | 45926911 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19043.hp1 |
a0002a0015 | a0002c0003a0015c0013 | a0002c0003t0001a0015c0013t0007 | a0002c0003t0001g0101 a0015c0013t0007g0040 |
2 | 252 | 0.0079 | 42 | c.-18 others(61): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163894755 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02055.hp2 NA19009.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0003 | a0001c0001t0005g0029 a0002c0004t0003g0077 |
2 | 102 | 0.0196 | 42 | c.-38 others(61): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0043 | 1 | 73 | 0.0137 | 42 | c.-38 others(61): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894958 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0044 | 1 | 102 | 0.0098 | 42 | c.-38 others(61): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164340405 | T | TTTTATAT others(35): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 50 | 0.0200 | 42 | c.-32 others(63): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103467674 | C | CAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 31 | 0.0323 | 42 | c.111 others(59): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493591 | T | TATTATAT others(35): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 | 1 | 264 | 0.0038 | 42 | c.770 others(59): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | chr12 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 67078849 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0037 | 1 | 100 | 0.0100 | 42 | c.764 others(61): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67078913 | T | TAAATAAA others(35): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0001 | 1 | 85 | 0.0118 | 42 | c.764 others(61): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MBD3L2B_chr19_7013969_7026431 | 7025871 | A | AATTATGT others(35): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011 | 1 | 350 | 0.0029 | 42 | c.-44 others(53): Show |
MBD3L2B | ENSG00000196589.8 | transcript | ENST00000636986.2 | protein_coding | 4441 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035118 | A | ATATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 42 | c.*27 others(53): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2630 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035199 | T | TAATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02886.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 257 | 0.0195 | 42 | c.*26 others(53): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2549 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7035207 | A | ACTATATC others(35): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 189 | 0.0053 | 42 | c.*26 others(53): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2541 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035118 | A | ATATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0003 | 1 | 247 | 0.0040 | 42 | c.*22 others(53): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2108 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035199 | T | TAATATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009 a0001c0001t0002g0042 |
2 | 245 | 0.0082 | 42 | c.*23 others(53): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2189 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035207 | A | ACTATATC others(35): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 187 | 0.0053 | 42 | c.*23 others(53): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2197 | chr19 | TogoVar | |||||||
MBIP_chr14_36293564_36325637 | 36294279 | T | TAAAAAAA others(35): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0018 | 1 | 32 | 0.0313 | 42 | c.*48 others(53): Show |
MBIP | ENSG00000151332.20 | transcript | ENST00000416007.9 | protein_coding | 4284 | chr14 | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396739 | T | TATATATA others(35): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(1): Show | a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0011g0107 others(2): Show |
5 | 184 | 0.0272 | 42 | c.343 others(59): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20111835 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0137 | 1 | 104 | 0.0096 | 42 | c.120 others(61): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 76975181 | T | TTTTCTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0011 | a0001c0001t0011g0144 a0001c0002t0011g0118 |
2 | 387 | 0.0052 | 42 | c.*52 others(53): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3651 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(35): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 137 | 0.0073 | 42 | c.*41 others(53): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(35): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0241 | 1 | 251 | 0.0040 | 42 | c.*10 others(53): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51179488 | A | ATATATAT others(35): Show |
3_prime_UTR_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 324 | 0.0031 | 42 | c.*10 others(53): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1087 | chr17 | TogoVar | ||||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0163 | 1 | 72 | 0.0139 | 42 | c.176 others(61): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | |||||||
MBTPS2_chrX_21834617_21890423 | 21862933 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 53 | 0.0189 | 42 | c.671 others(59): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(35): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 39 | 0.0256 | 42 | c.-25 others(53): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333838 | T | TATATGTA others(35): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02818.hp1 HG03654.hp2 others(3): Show |
a0003 | a0003c0005a0003c0015a0003c0020 | a0003c0005t0001a0003c0005t0019a0003c0005t0030others(2): Show | a0003c0005t0001g0020 a0003c0005t0001g0021 a0003c0005t0019g0027 others(3): Show |
6 | 94 | 0.0638 | 42 | c.627 others(59): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 |
a0010 | a0010c0009 | a0010c0009t0001a0010c0009t0002 | a0010c0009t0001g0150 a0010c0009t0002g0130 |
2 | 50 | 0.0400 | 42 | c.130 others(61): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(35): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0116 | 1 | 49 | 0.0204 | 42 | c.130 others(61): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118843644 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0020 | a0020c0021 | a0020c0021t0002 | a0020c0021t0002g0044 | 1 | 172 | 0.0058 | 42 | c.132 others(63): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118843646 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG02258.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0006c0008t0002 | a0001c0001t0002g0086 a0001c0001t0002g0087 a0006c0008t0002g0088 others(2): Show |
5 | 321 | 0.0156 | 42 | c.132 others(63): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118843646 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03139.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0006 a0002c0003t0002g0070 |
3 | 319 | 0.0094 | 42 | c.132 others(63): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(35): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG01169.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0002t0001g0026 |
6 | 70 | 0.0857 | 42 | c.-41 others(53): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTGT others(35): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0008 | a0008c0012 | a0008c0012t0005 | a0008c0012t0005g0018 | 1 | 220 | 0.0045 | 42 | c.*42 others(53): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | |||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTGT others(35): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 HG02129.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0232 a0001c0001t0006g0284 a0001c0001t0007g0119 |
3 | 222 | 0.0135 | 42 | c.*42 others(53): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar |