regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MKS1_chr17_58200441_58224255 | 58203890 | CCACTGCA others(25): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02723.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0031a0001c0001t0001g0064a0003c0003t0001g0063others(1): Show | 5 | 326 | 0.0153 | -32 | c.*21 others(43): Show |
MKS1 | ENSG00000011143.19 | transcript | ENST00000393119.7 | protein_coding | 1550 | chr17 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50075101 | AGGGCCGC others(25): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01109.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0031others(14): Show | 20 | 212 | 0.0943 | -32 | c.598 others(47): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 7/11 | chr22 | TogoVar | ||||||
MLH3_chr14_75008775_75056467 | 75033261 | AATTATAA others(25): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0014 | a0014c0025 | a0014c0025t0008 | a0014c0025t0008g0215 | 1 | 262 | 0.0038 | -32 | c.371 others(49): Show |
MLH3 | ENSG00000119684.16 | transcript | ENST00000355774.7 | protein_coding | 7/12 | chr14 | TogoVar | ||||||
MLIP_chr6_54106443_54271280 | 54251828 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp2 HG01192.hp1 others(13): Show |
a0001a0002a0014others(1): Show | a0001c0001a0002c0003a0002c0018others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(3): Show | a0001c0001t0001g0205a0001c0001t0002g0043a0001c0001t0002g0088others(13): Show | 16 | 248 | 0.0645 | -32 | c.292 others(51): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MLIP_chr6_54106443_54271280 | 54251940 | TATAATAT others(25): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 248 | 0.0040 | -32 | c.292 others(51): Show |
MLIP | ENSG00000146147.15 | transcript | ENST00000502396.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MLLT3_chr9_20336669_20627499 | 20565909 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01243.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0179others(16): Show | 19 | 186 | 0.1022 | -32 | c.193 others(51): Show |
MLLT3 | ENSG00000171843.17 | transcript | ENST00000380338.9 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237542855 | GCGGACAG others(25): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0025 | a0025c0039 | a0025c0039t0008 | a0025c0039t0008g0105 | 1 | 286 | 0.0035 | -32 | c.153 others(49): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237543095 | GGGACAGT others(25): Show |
G | intron_variant | MODIFIER | NA18947.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051a0002c0002t0001g0053 | 2 | 286 | 0.0070 | -32 | c.153 others(49): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543614 | GGGGACAG others(25): Show |
G | intron_variant | MODIFIER | NA19091.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0029 | 1 | 286 | 0.0035 | -32 | c.153 others(49): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543890 | GGGACAGT others(25): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02132.hp1 NA18951.hp2 |
a0001a0029 | a0001c0001a0029c0036 | a0001c0001t0001a0001c0001t0004a0029c0036t0001 | a0001c0001t0001g0217a0001c0001t0004g0135a0029c0036t0001g0181 | 3 | 286 | 0.0105 | -32 | c.153 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237543958 | GGGGACAG others(25): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 286 | 0.0035 | -32 | c.153 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544111 | GGGCACGG others(25): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0034 | a0034c0032 | a0034c0032t0002 | a0034c0032t0002g0049 | 1 | 286 | 0.0035 | -32 | c.153 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544436 | GGCACGGT others(25): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 286 | 0.0035 | -32 | c.153 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544720 | GGCACGGT others(25): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0230 | 1 | 286 | 0.0035 | -32 | c.154 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237544891 | GGGACAGT others(25): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0230 | 1 | 286 | 0.0035 | -32 | c.154 others(51): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MMD2_chr7_4900998_4964187 | 4959869 | ATGGGGGT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0362a0001c0002t0006g0363 | 2 | 382 | 0.0052 | -32 | c.-88 others(41): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 683 | chr7 | TogoVar | ||||||
MMP28_chr17_35760865_35800641 | 35771696 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0252 | 1 | 309 | 0.0032 | -32 | c.605 others(49): Show |
MMP28 | ENSG00000271447.6 | transcript | ENST00000605424.6 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
MMRN1_chr4_89889854_89959614 | 89931486 | GTATTGTG others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0162 | 2 | 368 | 0.0054 | -32 | c.113 others(51): Show |
MMRN1 | ENSG00000138722.10 | transcript | ENST00000264790.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MND1_chr4_153339688_153420118 | 153343645 | CTGTGTGT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 342 | 0.0029 | -32 | c.-10 others(43): Show |
MND1 | ENSG00000121211.8 | transcript | ENST00000240488.8 | protein_coding | 1042 | chr4 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39909198 | AAGGGGAG others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0007a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0019others(239): Show | 244 | 272 | 0.8971 | -32 | c.110 others(48): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261400 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0018 | 1 | 252 | 0.0040 | -32 | c.283 others(49): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261402 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0003 | 1 | 252 | 0.0040 | -32 | c.283 others(49): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261404 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(5): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0004a0003c0002t0002g0008a0003c0002t0002g0009others(5): Show | 8 | 252 | 0.0318 | -32 | c.283 others(49): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261406 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0011a0003c0002t0002g0012 | 2 | 252 | 0.0079 | -32 | c.283 others(49): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MOK_chr14_102223836_102310164 | 102261412 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 252 | 0.0040 | -32 | c.283 others(49): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 4/11 | chr14 | TogoVar | ||||||
MON2_chr12_62461826_62605476 | 62557942 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0225 | 1 | 368 | 0.0027 | -32 | c.340 others(51): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 25/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MORF4L1_chr15_78867890_78903139 | 78888871 | ATAAGTGG others(25): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 412 | 0.0024 | -32 | c.323 others(49): Show |
MORF4L1 | ENSG00000185787.15 | transcript | ENST00000426013.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MOXD1_chr6_132291055_132406475 | 132303848 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 1 | 318 | 0.0031 | -32 | c.150 others(51): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
MOXD1_chr6_132291055_132406475 | 132349406 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(78): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0052others(78): Show | 81 | 318 | 0.2547 | -32 | c.664 others(51): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
MPDZ_chr9_13100707_13284692 | 13222784 | CCACATCC others(25): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02155.hp1 others(15): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0003c0024others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0094a0001c0001t0001g0224a0001c0001t0001g0228others(15): Show | 18 | 302 | 0.0596 | -32 | c.534 others(47): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 5/46 | chr9 | TogoVar | ||||||
MPHOSPH6_chr16_82143162_82175224 | 82170965 | AAAAAAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0029a0001c0002t0010g0254 | 2 | 434 | 0.0046 | -32 | c.-82 others(41): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 742 | chr16 | TogoVar | ||||||
MPHOSPH6_chr16_82143162_82175224 | 82170967 | AAAAAAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02735.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0010 | a0001c0002t0006g0029a0001c0002t0006g0243a0001c0002t0006g0255others(1): Show | 5 | 434 | 0.0115 | -32 | c.-82 others(41): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 744 | chr16 | TogoVar | ||||||
MPP4_chr2_201639874_201703644 | 201669560 | GACTATCA others(25): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(407): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0007a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(387): Show | 410 | 416 | 0.9856 | -32 | c.101 others(49): Show |
MPP4 | ENSG00000082126.18 | transcript | ENST00000409474.8 | protein_coding | 12/21 | chr2 | TogoVar | ||||||
MRAP2_chr6_84028772_84095881 | 84037259 | CAAGTCCC others(25): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 272 | 0.0037 | -32 | c.-8+ others(47): Show |
MRAP2 | ENSG00000135324.6 | transcript | ENST00000257776.5 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
MRAP_chr21_32293855_32317290 | 32307549 | TCTGGGCA others(25): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 436 | 0.0023 | -32 | c.206 others(47): Show |
MRAP | ENSG00000170262.13 | transcript | ENST00000303645.10 | protein_coding | 2/2 | chr21 | TogoVar | ||||||
MRI1_chr19_13759522_13779282 | 13764725 | AGCGGGGC others(25): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02258.hp2 HG02451.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018a0001c0001t0001g0190a0001c0001t0001g0193others(16): Show | 24 | 460 | 0.0522 | -32 | c.132 others(45): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MRM2_chr7_2229195_2247205 | 2238971 | TAATAATT others(25): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 430 | 0.0023 | -32 | c.298 others(47): Show |
MRM2 | ENSG00000122687.19 | transcript | ENST00000242257.14 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144214483 | ATATTGCA others(25): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0127 | 1 | 140 | 0.0071 | -32 | c.114 others(51): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144218018 | CTCTGGGT others(25): Show |
C | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 140 | 0.0071 | -32 | c.114 others(51): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233788025 | TATATTAT others(25): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0294 | 1 | 378 | 0.0027 | -32 | c.277 others(49): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233788065 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG04115.hp2 NA18967.hp1 |
a0001a0080a0088 | a0001c0001a0080c0114a0088c0091 | a0001c0001t0001a0080c0114t0001a0088c0091t0001 | a0001c0001t0001g0339a0080c0114t0001g0041a0088c0091t0001g0302 | 3 | 378 | 0.0079 | -32 | c.277 others(49): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH2A_chr2_233773330_233838418 | 233789321 | GAGAAGGG others(25): Show |
G | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0200 | 1 | 378 | 0.0027 | -32 | c.277 others(47): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MROH9_chr1_170930534_171069765 | 171044972 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp1 HG03453.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0002c0002t0003others(1): Show | a0001c0001t0003g0011a0001c0001t0003g0093a0001c0001t0003g0150others(4): Show | 7 | 226 | 0.0310 | -32 | c.228 others(53): Show |
MROH9 | ENSG00000117501.15 | transcript | ENST00000367759.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MRPL15_chr8_54130241_54153514 | 54143698 | GTGTCCGT others(25): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 390 | 0.0026 | -32 | c.553 others(47): Show |
MRPL15 | ENSG00000137547.9 | transcript | ENST00000260102.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MRPL44_chr2_223952463_223972714 | 223959607 | TTAGATCT others(25): Show |
T | frameshift_variant | HIGH | HG01074.hp2 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0003 | 1 | 424 | 0.0024 | -32 | c.255 others(39): Show |
p.Asp others(4): Show |
MRPL44 | ENSG00000135900.4 | transcript | ENST00000258383.4 | protein_coding | 2/4 | 265/1689 | 255/999 | 85/332 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
MRPL45_chr17_38292168_38328211 | 38313336 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 287 | 0.0035 | -32 | c.462 others(49): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRPS14_chr1_175007958_175028425 | 175027017 | TATATTTA others(25): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0019a0001c0002t0004 | a0001c0001t0010g0044a0001c0001t0019g0110a0001c0002t0004g0018 | 5 | 398 | 0.0126 | -32 | c.-36 others(43): Show |
MRPS14 | ENSG00000120333.4 | transcript | ENST00000476371.1 | protein_coding | 3593 | chr1 | TogoVar | ||||||
MRPS14_chr1_175007958_175028425 | 175027230 | ATATATAT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 2 | 398 | 0.0050 | -32 | c.-38 others(43): Show |
MRPS14 | ENSG00000120333.4 | transcript | ENST00000476371.1 | protein_coding | 3806 | chr1 | TogoVar | ||||||
MRPS25_chr3_15043512_15070315 | 15055615 | GTGCGTGT others(25): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 368 | 0.0027 | -32 | c.242 others(49): Show |
MRPS25 | ENSG00000131368.9 | transcript | ENST00000253686.7 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
MRRF_chr9_122259882_122336337 | 122325631 | GGTGTGTG others(25): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18990.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0002a0001c0001t0032g0221 | 2 | 264 | 0.0076 | -32 | c.*30 others(43): Show |
MRRF | ENSG00000148187.18 | transcript | ENST00000344641.8 | protein_coding | 7/7 | 3037 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |