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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC4_chr3_195741771_195816929 | 195776280 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03688.hp1 |
a0051a0113 | a0051c0186a0113c0189 | a0051c0186t0003a0113c0189t0011 | a0051c0186t0003g0220 a0113c0189t0011g0206 |
2 | 249 | 0.0080 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776353 | A | ATCCATAC others(23): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0097 | a0003c0097t0001 | a0003c0097t0001g0118 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776384 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03704.hp1 |
a0023 | a0023c0024 | a0023c0024t0003 | a0023c0024t0003g0219 a0023c0024t0003g0221 |
2 | 249 | 0.0080 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776399 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0060 | a0060c0041 | a0060c0041t0001 | a0060c0041t0001g0179 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776429 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0093 | a0093c0178 | a0093c0178t0004 | a0093c0178t0004g0235 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776490 | C | CCTTACCT others(23): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0073 | a0073c0179 | a0073c0179t0012 | a0073c0179t0012g0236 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776549 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0110 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776624 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0056 | a0056c0184 | a0056c0184t0003 | a0056c0184t0003g0215 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776670 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0105 | a0105c0139 | a0105c0139t0001 | a0105c0139t0001g0068 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776699 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0128 | a0128c0195 | a0128c0195t0003 | a0128c0195t0003g0207 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776705 | C | CCTTCCGC others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0121 | a0121c0162 | a0121c0162t0002 | a0121c0162t0002g0166 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776729 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG02451.hp1 others(1): Show |
a0021a0051a0077 | a0021c0190a0021c0191a0051c0186others(1): Show | a0021c0190t0004a0021c0191t0005a0051c0186t0003others(1): Show | a0021c0190t0004g0241 a0021c0191t0005g0244 a0051c0186t0003g0220 others(1): Show |
4 | 249 | 0.0161 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776996 | A | ACGGCCAT others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0093 | a0093c0178 | a0093c0178t0004 | a0093c0178t0004g0235 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776999 | T | TCCATACC others(23): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0085 | a0085c0146 | a0085c0146t0004 | a0085c0146t0004g0233 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777015 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03098.hp1 |
a0079a0099 | a0079c0147a0099c0145 | a0079c0147t0004a0099c0145t0008 | a0079c0147t0004g0231 a0099c0145t0008g0055 |
2 | 249 | 0.0080 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777060 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(59): Show |
a0001a0003a0005others(30): Show | a0001c0004a0001c0006a0001c0015others(50): Show | a0001c0004t0001a0001c0006t0001a0001c0015t0002others(50): Show | a0001c0004t0001g0075 a0001c0006t0001g0102 a0001c0015t0002g0070 others(58): Show |
62 | 249 | 0.2490 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777118 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 homoSapiens_chm13v2.hp1 |
a0001a0037 | a0001c0006a0037c0042 | a0001c0006t0001a0037c0042t0001 | a0001c0006t0001g0101 a0037c0042t0001g0143 |
2 | 249 | 0.0080 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777148 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18985.hp2 |
a0125a0137 | a0125c0073a0137c0046 | a0125c0073t0001a0137c0046t0001 | a0125c0073t0001g0150 a0137c0046t0001g0175 |
2 | 249 | 0.0080 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777165 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0121 | a0121c0162 | a0121c0162t0002 | a0121c0162t0002g0166 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777195 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp1 others(8): Show |
a0001a0009a0012others(4): Show | a0001c0004a0001c0006a0001c0017others(7): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0001others(7): Show | a0001c0004t0001g0094 a0001c0006t0001g0133 a0001c0017t0001g0105 others(8): Show |
11 | 249 | 0.0442 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777253 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0076 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777283 | A | ACCCATAC others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01884.hp2 HG03041.hp2 others(2): Show |
a0021a0024a0051others(1): Show | a0021c0190a0021c0191a0024c0022others(2): Show | a0021c0190t0004a0021c0191t0005a0024c0022t0004others(2): Show | a0021c0190t0004g0241 a0021c0191t0005g0244 a0024c0022t0004g0245 others(2): Show |
5 | 249 | 0.0201 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777283 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0129 | a0129c0061 | a0129c0061t0001 | a0129c0061t0001g0161 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777285 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0061 | a0061c0198 | a0061c0198t0008 | a0061c0198t0008g0222 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777299 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0093 | a0093c0178 | a0093c0178t0004 | a0093c0178t0004g0235 | 1 | 249 | 0.0040 | 30 | c.129 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777314 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0009a0012others(4): Show | a0001c0004a0001c0006a0001c0017others(6): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0001others(6): Show | a0001c0004t0001g0094 a0001c0006t0001g0133 a0001c0017t0001g0105 others(7): Show |
10 | 249 | 0.0402 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777345 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18946.hp2 NA18979.hp2 others(1): Show |
a0001a0014a0022 | a0001c0018a0014c0008a0022c0012 | a0001c0018t0010a0014c0008t0001a0022c0012t0001 | a0001c0018t0010g0003 a0014c0008t0001g0058 a0014c0008t0001g0059 others(1): Show |
4 | 249 | 0.0161 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777360 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0018 | a0001c0018t0010 | a0001c0018t0010g0004 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777495 | C | CCATACCT others(23): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0046 | a0046c0183 | a0046c0183t0003 | a0046c0183t0003g0205 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777719 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02602.hp1 |
a0056a0082 | a0056c0184a0082c0182 | a0056c0184t0003a0082c0182t0003 | a0056c0184t0003g0215 a0082c0182t0003g0223 |
2 | 249 | 0.0080 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777812 | A | ATACCTTC others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01981.hp1 HG03492.hp2 |
a0019a0064a0108 | a0019c0021a0064c0133a0108c0135 | a0019c0021t0002a0064c0133t0002a0108c0135t0002 | a0019c0021t0002g0044 a0064c0133t0002g0009 a0108c0135t0002g0074 |
3 | 249 | 0.0121 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777898 | A | ACCCATAC others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01258.hp1 others(4): Show |
a0006a0007a0041others(1): Show | a0006c0019a0006c0020a0007c0003others(2): Show | a0006c0019t0002a0006c0020t0002a0007c0003t0002others(2): Show | a0006c0019t0002g0013 a0006c0020t0002g0011 a0006c0020t0002g0012 others(4): Show |
7 | 249 | 0.0281 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777899 | G | GTCATACC others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0093 | a0093c0178 | a0093c0178t0004 | a0093c0178t0004g0235 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777913 | A | AGTCATAC others(23): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0072 | a0072c0201 | a0072c0201t0009 | a0072c0201t0009g0237 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777914 | C | CCCATACC others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0060 | a0060c0041 | a0060c0041t0001 | a0060c0041t0001g0179 | 1 | 249 | 0.0040 | 30 | c.129 others(49): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0052 | 1 | 292 | 0.0034 | 30 | c.74- others(44): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1159532 | T | TCTGTGCG others(23): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0003 | a0001c0092a0002c0002a0003c0006 | a0001c0092t0001a0002c0002t0001a0003c0006t0001 | a0001c0092t0001g0086 a0002c0002t0001g0132 a0002c0002t0001g0133 others(1): Show |
5 | 292 | 0.0171 | 30 | c.74- others(45): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1159853 | C | CGGGGCTG others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02071.hp1 HG02165.hp1 others(3): Show |
a0001a0004a0007 | a0001c0001a0001c0028a0004c0003others(1): Show | a0001c0001t0001a0001c0028t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0217 a0001c0028t0001g0215 a0004c0003t0001g0214 others(3): Show |
6 | 292 | 0.0206 | 30 | c.74- others(43): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1170750 | C | CATCCACT others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0029 | a0029c0039 | a0029c0039t0002 | a0029c0039t0002g0047 | 1 | 292 | 0.0034 | 30 | c.187 others(49): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 15/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1195148 | C | CACCACGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG03471.hp2 | a0050 | a0050c0105 | a0050c0105t0001 | a0050c0105t0001g0042 | 1 | 292 | 0.0034 | 30 | c.153 others(41): Show |
p.Val others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 36/49 | 15456/17448 | 15409/16965 | 5137/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUC5AC_chr11_1152953_1206138 | 1195214 | G | GGTCGGGC others(23): Show |
conservative_inframe_insertion | MODERATE | NA20805.hp2 | a0068 | a0068c0062 | a0068c0062t0001 | a0068c0062t0001g0157 | 1 | 292 | 0.0034 | 30 | c.154 others(41): Show |
p.Val others(15): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 36/49 | 15456/17448 | 15409/16965 | 5137/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MUSK_chr9_110663791_110811558 | 110681080 | T | TTATATAA others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0303 |
3 | 326 | 0.0092 | 30 | c.80- others(45): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689720 | T | TAAATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(38): Show |
a0001a0002a0006 | a0001c0001a0002c0004a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 others(38): Show |
41 | 326 | 0.1258 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690198 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02965.hp1 HG03540.hp2 |
a0001a0002 | a0001c0010a0002c0027 | a0001c0010t0006a0002c0027t0005 | a0001c0010t0006g0131 a0001c0010t0006g0133 a0002c0027t0005g0130 |
3 | 326 | 0.0092 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690722 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0166 | 1 | 326 | 0.0031 | 30 | c.358 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701685 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0305 | 1 | 326 | 0.0031 | 30 | c.628 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701690 | C | CTTTATTT others(23): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 326 | 0.0031 | 30 | c.628 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVB12A_chr19_17415047_17430332 | 17415377 | G | GAACAAAC others(23): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 400 | 0.0025 | 30 | c.-47 others(41): Show |
MVB12A | ENSG00000141971.14 | transcript | ENST00000317040.12 | protein_coding | 4669 | chr19 | TogoVar | |||||||
MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01081.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0033 others(7): Show |
19 | 382 | 0.0497 | 30 | c.*43 others(41): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110216665 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 372 | 0.0027 | 30 | c.274 others(47): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |