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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MPPED1_chr22_43407014_43512848 | 43447859 | T | TATATAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0230 | 1 | 207 | 0.0048 | 27 | c.406 others(46): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43447883 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0214 | 1 | 131 | 0.0076 | 27 | c.406 others(46): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43447884 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 191 | 0.0052 | 27 | c.406 others(46): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 3/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43494694 | A | AGTGGTGG others(20): Show |
intron_variant | MODIFIER | NA18947.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0018 | a0001c0001t0004g0228 a0001c0008t0018g0010 |
2 | 94 | 0.0213 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495711 | T | TAGTGGTG others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 214 | 0.0047 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43495726 | T | TGGTGGTG others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00673.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0140 a0001c0001t0001g0152 others(11): Show |
14 | 244 | 0.0574 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496346 | G | GTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0175 a0001c0001t0003g0166 a0001c0001t0006g0082 |
3 | 173 | 0.0173 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496346 | G | GTGGTGGT others(20): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02723.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0008a0001c0009t0002 | a0001c0001t0001g0054 a0001c0002t0008g0084 a0001c0009t0002g0206 others(1): Show |
4 | 174 | 0.0230 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496691 | G | GAGGTGGT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0079 | 1 | 233 | 0.0043 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43497014 | A | AGTGGTGG others(20): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0222 | 1 | 246 | 0.0041 | 27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43499813 | G | GGGTGATG others(20): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18947.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 a0001c0001t0004g0133 a0001c0001t0004g0228 |
3 | 242 | 0.0124 | 27 | c.748 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500077 | T | TGGTGGTG others(20): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0005a0001c0007t0002 | a0001c0001t0005g0176 a0001c0007t0002g0201 |
2 | 248 | 0.0081 | 27 | c.748 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500220 | A | ATGGTGGT others(20): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0031 | 1 | 177 | 0.0056 | 27 | c.748 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(20): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01981.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0013 | a0001c0001t0001g0043 a0001c0001t0001g0140 a0001c0002t0001g0072 others(3): Show |
6 | 90 | 0.0667 | 27 | c.748 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPV17L2_chr19_18188218_18201948 | 18201259 | A | AAAGAAAG others(20): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0008 | a0002c0002t0004g0004 a0002c0002t0008g0004 |
2 | 244 | 0.0082 | 27 | c.*52 others(38): Show |
MPV17L2 | ENSG00000254858.10 | transcript | ENST00000599612.3 | protein_coding | 4312 | chr19 | TogoVar | |||||||
MREG_chr2_215937584_216018551 | 216015123 | G | GTGTGTGC others(20): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 168 | 0.0060 | 27 | c.-17 others(38): Show |
MREG | ENSG00000118242.17 | transcript | ENST00000263268.11 | protein_coding | 1573 | chr2 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3216895 | G | GCTTTCTT others(20): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 385 | 0.0026 | 27 | c.*10 others(38): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1048 | chr11 | TogoVar | |||||||
MRI1_chr19_13759522_13779282 | 13767861 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02129.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0032 a0001c0001t0002g0071 a0001c0001t0004g0048 others(1): Show |
6 | 158 | 0.0380 | 27 | c.548 others(42): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144195195 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19074.hp2 |
a0001a0013 | a0001c0002a0013c0023 | a0001c0002t0001a0013c0023t0001 | a0001c0002t0001g0098 a0013c0023t0001g0139 |
2 | 4 | 0.5000 | 27 | c.948 others(44): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203083 | G | GGCGGGGG others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0033 | 1 | 102 | 0.0098 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203083 | G | GGCGGGGG others(20): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG00642.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0124 a0001c0002t0001g0042 a0001c0002t0001g0045 others(8): Show |
11 | 112 | 0.0982 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203085 | G | GCGGGGGG others(20): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0130 | 1 | 37 | 0.0270 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | chr8 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144203157 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 122 | 0.0082 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203157 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG01993.hp2 others(5): Show |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0001 | a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0095 others(5): Show |
8 | 129 | 0.0620 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203158 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02257.hp2 HG02886.hp1 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0086 a0001c0001t0001g0106 a0002c0006t0001g0066 |
3 | 123 | 0.0244 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203225 | G | GGGGGGGG others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0051 | 1 | 136 | 0.0074 | 27 | c.114 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH2B_chr5_40993020_41076342 | 41057563 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00741.hp1 others(38): Show |
a0001a0002a0004others(14): Show | a0001c0002a0002c0009a0002c0084others(17): Show | a0001c0002t0001a0002c0009t0001a0002c0084t0001others(17): Show | a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 others(38): Show |
41 | 45 | 0.9111 | 27 | c.757 others(42): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 7/41 | chr5 | TogoVar | |||||||
MROH7_chr1_54636786_54715266 | 54699159 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02897.hp2 NA18980.hp1 others(1): Show |
a0008a0021a0037 | a0008c0006a0021c0033a0037c0051 | a0008c0006t0001a0021c0033t0004a0037c0051t0001 | a0008c0006t0001g0059 a0008c0006t0001g0060 a0021c0033t0004g0010 others(1): Show |
4 | 210 | 0.0190 | 27 | c.296 others(46): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MRPL1_chr4_77857830_77957785 | 77863461 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 178 | 0.0056 | 27 | c.31+ others(40): Show |
MRPL1 | ENSG00000169288.18 | transcript | ENST00000315567.13 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(20): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02818.hp2 HG03486.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0004a0001c0002t0001a0003c0004t0001 | a0001c0001t0004g0111 a0001c0002t0001g0135 a0003c0004t0001g0009 |
3 | 8 | 0.3750 | 27 | c.-8+ others(40): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(20): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01891.hp1 HG02280.hp2 others(10): Show |
a0001a0005a0009 | a0001c0001a0005c0007a0009c0017 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0204 others(9): Show |
13 | 18 | 0.7222 | 27 | c.-8+ others(40): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370394 | C | CCCCGGCC others(20): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0199 | 1 | 392 | 0.0026 | 27 | c.-8+ others(40): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL41_chr9_137546879_137557555 | 137550507 | G | GGCCCAGC others(20): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 27 | c.-14 others(38): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 1371 | chr9 | TogoVar | |||||||
MRPL41_chr9_137546879_137557555 | 137551746 | C | CGAGCCCC others(20): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 27 | c.-24 others(36): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 132 | chr9 | TogoVar | |||||||
MRPL46_chr15_88454478_88472388 | 88460165 | T | TTCAGCCC others(20): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02056.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0001 | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0008t0001g0032 others(6): Show |
21 | 290 | 0.0724 | 27 | c.590 others(42): Show |
MRPL46 | ENSG00000259494.2 | transcript | ENST00000312475.5 | protein_coding | 3/3 | chr15 | TogoVar | |||||||
MRPL46_chr15_88454478_88472388 | 88460204 | G | GCTATCTG others(20): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02809.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0021 | 2 | 290 | 0.0069 | 27 | c.590 others(42): Show |
MRPL46 | ENSG00000259494.2 | transcript | ENST00000312475.5 | protein_coding | 3/3 | chr15 | TogoVar | |||||||
MRPS33_chr7_140997610_141019952 | 141000202 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 279 | 0.0036 | 27 | c.*62 others(38): Show |
MRPS33 | ENSG00000090263.16 | transcript | ENST00000324787.10 | protein_coding | 2407 | chr7 | TogoVar | |||||||
MS4A4A_chr11_60275666_60313970 | 60294892 | A | ACTACTAC others(20): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18989.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 22 | 0.1364 | 27 | c.202 others(44): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MS4A4A_chr11_60275666_60313970 | 60294892 | A | ACTACTAC others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01517.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0085 a0001c0001t0001g0086 others(9): Show |
13 | 32 | 0.4063 | 27 | c.202 others(44): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MS4A4A_chr11_60275666_60313970 | 60294892 | A | ACTTCTTC others(20): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18972.hp2 NA18988.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0007 a0001c0004t0003g0173 a0001c0004t0003g0174 |
7 | 26 | 0.2692 | 27 | c.202 others(44): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80654899 | G | GCAGCGCC others(20): Show |
conservative_inframe_insertion | MODERATE | HG01496.hp1 HG02257.hp2 HG02451.hp1 others(2): Show |
a0011a0016 | a0011c0016a0011c0022a0016c0017 | a0011c0016t0005a0011c0022t0005a0016c0017t0005 | a0011c0016t0005g0013 a0011c0016t0005g0030 a0011c0022t0005g0012 others(2): Show |
5 | 355 | 0.0141 | 27 | c.177 others(34): Show |
p.Ala others(38): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 254/4443 | 178/3414 | 60/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80654908 | G | GCAGCGCC others(20): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp2 | a0019 | a0019c0026 | a0019c0026t0005 | a0019c0026t0005g0022 | 1 | 343 | 0.0029 | 27 | c.203 others(34): Show |
p.Ala others(38): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 280/4443 | 204/3414 | 68/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80784212 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00597.hp2 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 a0001c0002t0001g0179 |
2 | 201 | 0.0100 | 27 | c.243 others(46): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH5_chr6_31735005_31767676 | 31746080 | T | TGTGTGTG others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 44 | 0.0227 | 27 | c.766 others(42): Show |
MSH5 | ENSG00000204410.16 | transcript | ENST00000375750.9 | protein_coding | 9/24 | chr6 | TogoVar | |||||||
MSH6_chr2_47778145_47811953 | 47788906 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG03098.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0250 a0002c0003t0001g0196 |
2 | 190 | 0.0105 | 27 | c.261 others(44): Show |
MSH6 | ENSG00000116062.19 | transcript | ENST00000234420.11 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
MSI2_chr17_57251523_57689689 | 57583488 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0057 | 1 | 22 | 0.0455 | 27 | c.455 others(46): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MSL2_chr3_136143917_136201335 | 136157201 | T | TGATCACC others(20): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0208 a0001c0001t0010g0184 |
2 | 307 | 0.0065 | 27 | c.143 others(44): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MSL2_chr3_136143917_136201335 | 136176444 | G | GGTTGAAG others(20): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 308 | 0.0032 | 27 | c.142 others(46): Show |
MSL2 | ENSG00000174579.5 | transcript | ENST00000309993.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767644 | A | AGGAGGGG others(20): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0296 | 1 | 296 | 0.0034 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767711 | G | GGGCGCAT others(20): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 109 | 0.0092 | 27 | c.159 others(44): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |