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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0022 | a0001c0001t0004g0052 a0001c0001t0005g0037 a0001c0001t0022g0040 |
3 | 102 | 0.0294 | 21 | c.-38 others(40): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894956 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0049 | 1 | 102 | 0.0098 | 21 | c.-38 others(40): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164127078 | C | CAAAACAA others(14): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0080 | 1 | 102 | 0.0098 | 21 | c.-32 others(42): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164258391 | T | TATAATAA others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 102 | 0.0098 | 21 | c.-32 others(44): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164356780 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01261.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0102 a0001c0001t0004g0100 others(9): Show |
12 | 102 | 0.1177 | 21 | c.-32 others(42): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0099 a0001c0001t0008g0076 |
2 | 296 | 0.0068 | 21 | c.*37 others(32): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126897045 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0255 | 1 | 296 | 0.0034 | 21 | c.393 others(40): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126992766 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0242 | 1 | 296 | 0.0034 | 21 | c.-57 others(40): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216336742 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 NA18612.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0207 a0001c0001t0004g0247 a0001c0001t0005g0209 others(3): Show |
6 | 330 | 0.0182 | 21 | c.516 others(40): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15591942 | C | CATAATAG others(14): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG02040.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0018a0001c0001t0024others(2): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0048 others(8): Show |
11 | 393 | 0.0280 | 21 | c.*47 others(32): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 2444 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15591942 | C | CATAATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 393 | 0.0025 | 21 | c.*47 others(32): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 2444 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15591957 | T | TATATCTA others(14): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 393 | 0.0025 | 21 | c.*47 others(32): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 2429 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15602512 | G | GAAGAAGA others(14): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 393 | 0.0025 | 21 | c.441 others(38): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 22/26 | chr16 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15613684 | T | TAAATAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0133 a0001c0001t0001g0134 others(6): Show |
10 | 393 | 0.0255 | 21 | c.325 others(38): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 16/26 | chr16 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103382198 | G | GGAAGGAA others(14): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 348 | 0.0029 | 21 | c.-38 others(32): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 3216 | chr14 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103452471 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01175.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0124 others(15): Show |
18 | 348 | 0.0517 | 21 | c.412 others(36): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103470455 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01361.hp2 others(21): Show |
a0001a0011 | a0001c0001a0011c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(21): Show |
24 | 348 | 0.0690 | 21 | c.126 others(40): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARVELD2_chr5_69410116_69449330 | 69426320 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 345 | 0.0029 | 21 | c.118 others(40): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MARVELD2_chr5_69410116_69449330 | 69444009 | T | TAAAAAAA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG02165.hp2 NA18941.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0013a0002c0002t0014a0002c0002t0045 | a0002c0002t0013g0010 a0002c0002t0013g0164 a0002c0002t0013g0167 others(8): Show |
11 | 345 | 0.0319 | 21 | c.*23 others(32): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 7/7 | 2369 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MAST1_chr19_12833515_12879952 | 12868103 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01256.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0001g0215 a0001c0001t0001g0264 others(1): Show |
4 | 316 | 0.0127 | 21 | c.256 others(38): 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(14): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0251 |
2 | 288 | 0.0069 | 21 | c.500 others(38): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45900195 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0121 | 1 | 288 | 0.0035 | 21 | c.500 others(40): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | chr1 | TogoVar | |||||||
MAST3_chr19_18092778_18156687 | 18100128 | C | CTCTTTTT others(14): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18942.hp2 NA18951.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0002a0002c0010t0001 | a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0029 others(1): Show |
4 | 296 | 0.0135 | 21 | c.39+ others(36): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18116090 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0152 a0001c0002t0004g0239 a0001c0002t0004g0255 |
3 | 296 | 0.0101 | 21 | c.161 others(38): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66639313 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 108 | 0.0093 | 21 | c.363 others(40): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
MAST4_chr5_66591393_67174593 | 66847820 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02922.hp1 |
a0001a0004a0008 | a0001c0036a0004c0015a0008c0010 | a0001c0036t0012a0004c0015t0004a0008c0010t0013 | a0001c0036t0012g0015 a0004c0015t0004g0065 a0008c0010t0013g0061 |
3 | 108 | 0.0278 | 21 | c.643 others(40): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67078720 | T | TTTATATT others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0096 | 1 | 108 | 0.0093 | 21 | c.764 others(40): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MATCAP2_chr7_36319152_36372240 | 36337098 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 a0001c0001t0004g0174 a0001c0001t0004g0175 |
3 | 388 | 0.0077 | 21 | c.715 others(36): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
MATN1_chr1_30706277_30728585 | 30722535 | C | CTGTGGGG others(14): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 440 | 0.0023 | 21 | c.95- others(34): Show |
MATN1 | ENSG00000162510.6 | transcript | ENST00000373765.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 97889489 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0021 | 1 | 318 | 0.0031 | 21 | c.142 others(38): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 2/18 | chr8 | TogoVar | |||||||
MATN2_chr8_97864064_98041724 | 97945717 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0027 | a0001c0027t0002 | a0001c0027t0002g0230 | 1 | 318 | 0.0031 | 21 | c.835 others(38): Show |
MATN2 | ENSG00000132561.14 | transcript | ENST00000254898.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MATN3_chr2_19987052_20017668 | 20010067 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 |
3 | 432 | 0.0069 | 21 | c.223 others(38): Show |
MATN3 | ENSG00000132031.13 | transcript | ENST00000407540.8 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00673.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0038 a0001c0001t0001g0039 others(8): Show |
20 | 422 | 0.0474 | 21 | c.-34 others(36): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MAVS_chr20_3841834_3881118 | 3851990 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0008 | a0006c0008t0027 | a0006c0008t0027g0174 | 1 | 420 | 0.0024 | 21 | c.-67 others(38): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MBD2_chr18_54146606_54229669 | 54224214 | T | TGCCGCCG others(14): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0278 | 1 | 300 | 0.0033 | 21 | c.325 others(28): Show |
p.Gly others(34): Show |
MBD2 | ENSG00000134046.12 | transcript | ENST00000256429.8 | protein_coding | 1/7 | 455/5064 | 345/1236 | 115/411 | chr18 | TogoVar | |||
MBD3L2B_chr19_7013969_7026431 | 7021226 | A | AAGTTTCC others(14): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 350 | 0.0029 | 21 | c.45+ others(34): Show |
MBD3L2B | ENSG00000196589.8 | transcript | ENST00000636986.2 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7037112 | T | TCCAGTAG others(14): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0021 | a0021c0030 | a0021c0030t0004 | a0021c0030t0004g0057 | 1 | 262 | 0.0038 | 21 | c.*74 others(30): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 636 | chr19 | TogoVar | |||||||
MBD5_chr2_148016091_148521971 | 148288399 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02257.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0061 others(7): Show |
10 | 188 | 0.0532 | 21 | c.-67 others(42): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148288410 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 188 | 0.0053 | 21 | c.-67 others(42): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBD5_chr2_148016091_148521971 | 148294501 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01261.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018 | a0001c0001t0004g0158 a0001c0001t0018g0009 |
2 | 188 | 0.0106 | 21 | c.-67 others(42): 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(14): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0160 | 1 | 188 | 0.0053 | 21 | c.-67 others(42): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MBLAC2_chr5_90453209_90479771 | 90478569 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 378 | 0.0027 | 21 | c.-42 others(32): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 3799 | chr5 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97291900 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 254 | 0.0039 | 21 | c.174 others(40): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97389026 | G | GCAGCAGT others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0234 | 1 | 254 | 0.0039 | 21 | c.104 others(40): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBOAT1_chr6_20094684_20217469 | 20212894 | G | GGAGAGAC others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(272): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 others(271): Show |
275 | 336 | 0.8185 | 21 | c.-66 others(30): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 426 | chr6 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77007397 | A | AGCCCGCC others(14): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0250 | 1 | 396 | 0.0025 | 21 | c.576 others(38): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77057824 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0244 | 1 | 396 | 0.0025 | 21 | c.139 others(38): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77071351 | A | ATCCCTTA others(14): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01496.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0051 a0001c0002t0002g0279 |
2 | 396 | 0.0051 | 21 | c.52- others(36): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBP_chr18_76973833_77137783 | 77084431 | C | CACACACA others(14): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152 | 1 | 396 | 0.0025 | 21 | c.52- others(38): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
MBTD1_chr17_51172425_51265049 | 51176422 | A | AAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0256 | 1 | 340 | 0.0029 | 21 | c.*41 others(32): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 1002 | chr17 | TogoVar |