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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LINGO2_chr9_27932617_29218601 | 28189533 | G | GAGGAAGG others(281): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 36 | 0.0278 | 288 | c.-36 others(309): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189536 | G | GAAGGAAG others(281): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0030 | 1 | 62 | 0.0161 | 288 | c.-36 others(309): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 860073 | T | TCTGTGCT others(281): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0048 | 1 | 292 | 0.0034 | 288 | c.153 others(307): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(281): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 21 | 0.0476 | 288 | c.-31 others(299): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | |||||||
LOC127933115_chrX_23778278_23788367 | 23780122 | C | CACACATA others(281): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 22 | 0.0909 | 288 | c.-31 others(299): Show |
LOC127933115 | ENSG00000288706.1 | transcript | ENST00000683890.1 | protein_coding | 3155 | chrX | TogoVar | |||||||
LOC128125818_chr4_6059977_6075162 | 6067750 | G | GCAGGTCA others(281): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0230 |
2 | 431 | 0.0046 | 288 | c.106 others(305): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197876899 | C | CTCACTGC others(281): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0127 | 1 | 286 | 0.0035 | 288 | c.220 others(307): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877151 | C | CTCACCGC others(281): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0003 | a0002c0003t0055 | a0002c0003t0055g0031 | 1 | 245 | 0.0041 | 288 | c.220 others(307): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877166 | G | GCAGTGAT others(281): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0117 | 1 | 270 | 0.0037 | 288 | c.220 others(307): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877331 | C | CTCACCGC others(281): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0122 | 1 | 283 | 0.0035 | 288 | c.220 others(307): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC23_chr12_6899822_6919229 | 6909267 | A | ATATAATT others(281): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 204 | 0.0049 | 288 | c.622 others(303): Show |
LRRC23 | ENSG00000010626.15 | transcript | ENST00000443597.7 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(281): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 234 | 0.0043 | 288 | c.-42 others(299): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC73_chr6_43501968_43515346 | 43502084 | T | TCTCTCTC others(281): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 358 | 0.0028 | 288 | c.*51 others(299): Show |
LRRC73 | ENSG00000204052.5 | transcript | ENST00000372441.2 | protein_coding | 4883 | chr6 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1937626 | C | CCAGCAGG others(281): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0077 | 1 | 195 | 0.0051 | 288 | c.159 others(305): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 16/18 | chr7 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97329640 | C | CACACACA others(281): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 2 | 0.5000 | 288 | c.175 others(305): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97329640 | C | CACACACA others(281): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0025 others(103): Show |
106 | 107 | 0.9907 | 288 | c.175 others(305): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97329640 | C | CACACACA others(281): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(127): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(127): Show |
130 | 131 | 0.9924 | 288 | c.175 others(305): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97329640 | C | CACACACA others(281): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 2 | 0.5000 | 288 | c.175 others(305): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396679 | T | TATATAGA others(281): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 129 | 0.0078 | 288 | c.343 others(305): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBNL3_chrX_132364320_132494038 | 132396739 | T | TATATATT others(281): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 | 1 | 180 | 0.0056 | 288 | c.343 others(305): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
MBOAT7_chr19_54168415_54194580 | 54181993 | G | GGGAGGGA others(281): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 110 | 0.0091 | 288 | c.494 others(303): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 113033054 | C | CGTGAGTG others(281): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0102 | 1 | 114 | 0.0088 | 288 | c.278 others(305): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876764 | T | TAGGGAGC others(281): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 270 | 0.0037 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876820 | G | GGGAGGTT others(281): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 |
a0002a0004 | a0002c0003a0004c0007 | a0002c0003t0002a0004c0007t0026 | a0002c0003t0002g0119 a0004c0007t0026g0132 |
2 | 250 | 0.0080 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877036 | G | GGGAGGTT others(281): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0019 | a0019c0034 | a0019c0034t0033 | a0019c0034t0033g0270 | 1 | 212 | 0.0047 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877153 | G | GGGAAGTT others(281): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0015 | a0015c0033 | a0015c0033t0012 | a0015c0033t0012g0200 | 1 | 250 | 0.0040 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAAGTT others(281): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0012 | a0012c0028 | a0012c0028t0035 | a0012c0028t0035g0272 | 1 | 214 | 0.0047 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877205 | T | TAGGGAGG others(281): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 258 | 0.0039 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GAGAAGTT others(281): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 145 | 0.0069 | 288 | c.224 others(307): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910807 | C | CCTTTCCC others(281): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 179 | 0.0056 | 288 | c.107 others(307): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MOV10L1_chr22_50085006_50166687 | 50147175 | G | GGCAGGCC others(281): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0010 | a0010c0023 | a0010c0023t0001 | a0010c0023t0001g0231 | 1 | 205 | 0.0049 | 288 | c.262 others(307): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MOV10L1_chr22_50085006_50166687 | 50147326 | C | CGCTCTCT others(281): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 a0001c0001t0001g0229 |
2 | 395 | 0.0051 | 288 | c.262 others(307): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(281): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0139 |
2 | 148 | 0.0135 | 288 | c.315 others(305): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(281): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 147 | 0.0068 | 288 | c.315 others(305): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MS4A4E_chr11_60195270_60248137 | 60206479 | A | ATATATAT others(281): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0004a0008 | a0004c0005a0008c0017 | a0004c0005t0005a0008c0017t0005 | a0004c0005t0005g0159 a0008c0017t0005g0158 |
2 | 366 | 0.0055 | 288 | c.484 others(303): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 6/8 | chr11 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767950 | A | AGGGGCGC others(281): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 335 | 0.0030 | 288 | c.159 others(305): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186546790 | A | ATGGGACA others(281): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0054 | 1 | 377 | 0.0027 | 288 | c.184 others(305): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTNR1A_chr4_186528655_186560567 | 186546886 | G | GTGGGACA others(281): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 NA21309.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0174 a0001c0001t0001g0235 |
4 | 220 | 0.0182 | 288 | c.184 others(305): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTNR1A_chr4_186528655_186560567 | 186546886 | G | GTGGGACA others(281): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(62): Show |
a0001a0008a0010 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(33): Show |
65 | 281 | 0.2313 | 288 | c.184 others(305): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTNR1A_chr4_186528655_186560567 | 186546886 | G | GTGGGACA others(281): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0197 |
2 | 218 | 0.0092 | 288 | c.184 others(305): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(281): Show |
intron_variant | MODIFIER | HG01256.hp2 HG03704.hp1 NA18987.hp1 |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0035 a0006c0006t0004g0060 a0006c0006t0004g0074 |
3 | 318 | 0.0094 | 288 | c.394 others(303): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771018 | T | TGGGTTGG others(281): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0076 | a0001c0076t0001 | a0001c0076t0001g0110 | 1 | 240 | 0.0042 | 288 | c.132 others(307): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195771018 | T | TGGGTTGG others(281): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02976.hp2 |
a0049a0060a0081 | a0049c0159a0060c0160a0081c0158 | a0049c0159t0008a0060c0160t0009a0081c0158t0009 | a0049c0159t0008g0220 a0060c0160t0009g0222 a0081c0158t0009g0244 |
3 | 242 | 0.0124 | 288 | c.132 others(307): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195771114 | C | CGGGTTGG others(281): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 |
a0070a0076 | a0070c0155a0076c0154 | a0070c0155t0004a0076c0154t0003 | a0070c0155t0004g0243 a0076c0154t0003g0206 |
2 | 215 | 0.0093 | 288 | c.132 others(307): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195771114 | C | CGGGTTGG others(281): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 HG03225.hp1 others(1): Show |
a0075a0082a0089others(1): Show | a0075c0113a0082c0112a0089c0110others(1): Show | a0075c0113t0001a0082c0112t0001a0089c0110t0001others(1): Show | a0075c0113t0001g0008 a0082c0112t0001g0019 a0089c0110t0001g0018 others(1): Show |
4 | 217 | 0.0184 | 288 | c.132 others(307): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195771434 | T | TGGGTTGG others(281): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152 | 1 | 247 | 0.0040 | 288 | c.132 others(307): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195779995 | G | GTGTCGCT others(281): Show |
conservative_inframe_insertion | MODERATE | HG02040.hp1 | a0007 | a0007c0100 | a0007c0100t0001 | a0007c0100t0001g0111 | 1 | 241 | 0.0041 | 288 | c.115 others(299): Show |
p.Pro others(301): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11696/16756 | 11584/16239 | 3862/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780226 | G | GCTGAGGA others(281): Show |
conservative_inframe_insertion | MODERATE | HG02257.hp1 | a0059 | a0059c0148 | a0059c0148t0012 | a0059c0148t0012g0236 | 1 | 219 | 0.0046 | 288 | c.113 others(299): Show |
p.Ser others(303): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11465/16756 | 11353/16239 | 3785/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195780226 | G | GCTGAGGA others(281): Show |
conservative_inframe_insertion | MODERATE | HG00621.hp2 HG00639.hp1 HG00741.hp2 others(20): Show |
a0003a0016a0020others(7): Show | a0003c0004a0003c0006a0003c0144others(11): Show | a0003c0004t0003a0003c0006t0003a0003c0144t0003others(11): Show | a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(20): Show |
23 | 241 | 0.0954 | 288 | c.113 others(299): Show |
p.Ser others(303): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11465/16756 | 11353/16239 | 3785/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195781724 | T | TGCTGGTG others(281): Show |
conservative_inframe_insertion | MODERATE | HG00621.hp1 HG02040.hp1 HG03130.hp1 others(3): Show |
a0007a0085a0094 | a0007c0017a0007c0072a0007c0100others(2): Show | a0007c0017t0010a0007c0072t0001a0007c0100t0001others(2): Show | a0007c0017t0010g0005 a0007c0017t0010g0006 a0007c0072t0001g0115 others(3): Show |
6 | 149 | 0.0403 | 288 | c.985 others(297): Show |
p.Asp others(303): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 9967/16756 | 9855/16239 | 3285/5412 | chr3 | TogoVar |