| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MSRA_chr8_10049292_10433891 | 10074058 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG02738.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(17): Show | 20 | 286 | 0.0699 | -17 | c.142 others(36): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MSRA_chr8_10049292_10433891 | 10112030 | CAGTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(73): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0054a0001c0001t0001g0086a0001c0001t0001g0088others(73): Show | 76 | 286 | 0.2657 | -17 | c.142 others(36): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MSRA_chr8_10049292_10433891 | 10196713 | CTAATTTT others(10): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 286 | 0.0035 | -17 | c.143 others(36): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MSRB3_chr12_65273683_65471907 | 65396695 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA19240.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040a0001c0001t0003g0106 | 2 | 312 | 0.0064 | -17 | c.292 others(36): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MSRB3_chr12_65273683_65471907 | 65396699 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 312 | 0.0032 | -17 | c.292 others(36): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MSX1_chr4_4854665_4868936 | 4863552 | CAAAAAAA others(10): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG01993.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0017a0001c0001t0076a0006c0007t0017 | a0001c0001t0017g0008a0001c0001t0017g0015a0001c0001t0017g0028others(2): Show | 8 | 440 | 0.0182 | -17 | c.*42 others(26): Show |
MSX1 | ENSG00000163132.8 | transcript | ENST00000382723.5 | protein_coding | 2/2 | 429 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| MT1B_chr16_56646886_56658204 | 56657131 | CTTTTCTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0002a0002c0003t0001g0003 | 5 | 456 | 0.0110 | -17 | c.*40 others(28): Show |
MT1B | ENSG00000169688.11 | transcript | ENST00000334346.3 | protein_coding | 3928 | chr16 | TogoVar | ||||||
| MT1E_chr16_56620781_56632112 | 56627853 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 2 | 458 | 0.0044 | -17 | c.*10 others(28): Show |
MT1E | ENSG00000169715.15 | transcript | ENST00000330439.7 | protein_coding | 742 | chr16 | TogoVar | ||||||
| MT1F_chr16_56652959_56664303 | 56657131 | CTTTTCTT others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp1 HG01516.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0002g0004 | 5 | 462 | 0.0108 | -17 | c.-92 others(26): Show |
MT1F | ENSG00000198417.7 | transcript | ENST00000334350.7 | protein_coding | 827 | chr16 | TogoVar | ||||||
| MT1M_chr16_56627659_56638981 | 56627853 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0005 | 2 | 446 | 0.0045 | -17 | c.-48 others(28): Show |
MT1M | ENSG00000205364.4 | transcript | ENST00000379818.4 | protein_coding | 4805 | chr16 | TogoVar | ||||||
| MT4_chr16_56560073_56573957 | 56566802 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02080.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0248a0001c0001t0001g0251others(2): Show | 5 | 428 | 0.0117 | -17 | c.32- others(30): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MT4_chr16_56560073_56573957 | 56568219 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 428 | 0.0023 | -17 | c.97+ others(30): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MTA1_chr14_105414827_105475729 | 105471385 | GCCTGGCT others(10): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 304 | 0.0033 | -17 | c.*11 others(28): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 657 | chr14 | TogoVar | ||||||
| MTA3_chr2_42563632_42761946 | 42729086 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0007 | a0001c0001t0007g0049a0001c0001t0007g0072a0001c0001t0007g0238others(2): Show | 5 | 312 | 0.0160 | -17 | c.175 others(36): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MTCL1_chr18_8700556_8837778 | 8725776 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00597.hp2 others(125): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0003a0001c0061others(80): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(100): Show | a0001c0001t0001g0173a0001c0001t0001g0179a0001c0001t0001g0224others(124): Show | 128 | 336 | 0.3810 | -17 | c.143 others(36): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MTCL1_chr18_8700556_8837778 | 8737836 | ACCCATGA others(10): Show |
A | intron_variant | MODIFIER | NA18955.hp2 | a0017 | a0017c0173 | a0017c0173t0001 | a0017c0173t0001g0264 | 1 | 336 | 0.0030 | -17 | c.143 others(38): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MTF1_chr1_37804574_37864592 | 37819951 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0254a0001c0001t0002g0002a0001c0001t0002g0014others(145): Show | 165 | 376 | 0.4388 | -17 | c.176 others(36): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 9/10 | chr1 | TogoVar | ||||||
| MTF1_chr1_37804574_37864592 | 37841341 | GCAAGGTG others(10): Show |
G | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0125 | 1 | 376 | 0.0027 | -17 | c.409 others(34): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
| MTFR1_chr8_65639734_65715562 | 65703419 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 348 | 0.0029 | -17 | c.282 others(34): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MTG2_chr20_62178028_62208568 | 62193216 | ACAGATAG others(10): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0011 | a0011c0012 | a0011c0012t0028 | a0011c0012t0028g0073 | 1 | 412 | 0.0024 | -17 | c.-5- others(30): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MTHFD1L_chr6_150860702_151106887 | 150916483 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 226 | 0.0044 | -17 | c.893 others(34): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 8/27 | chr6 | TogoVar | ||||||
| MTHFD1L_chr6_150860702_151106887 | 150995923 | AGTGCTGG others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0124a0001c0001t0005g0081 | 2 | 226 | 0.0089 | -17 | c.212 others(38): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MTHFD1_chr14_64383353_64465025 | 64397133 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 342 | 0.0029 | -17 | c.42- others(32): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MTHFD1_chr14_64383353_64465025 | 64397137 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp2 NA18953.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0076a0003c0003t0001g0165 | 2 | 342 | 0.0059 | -17 | c.42- others(32): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MTHFD1_chr14_64383353_64465025 | 64397139 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG03540.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0269a0001c0001t0001g0341 | 3 | 342 | 0.0088 | -17 | c.42- others(32): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | chr14 | TogoVar | ||||||
| MTHFS_chr15_79838547_79902014 | 79890207 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0008 | a0005c0008t0007 | a0005c0008t0007g0337 | 1 | 394 | 0.0025 | -17 | c.118 others(32): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| MTHFS_chr15_79838547_79902014 | 79900362 | AGATTACA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp2 NA18956.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017a0001c0001t0003g0129a0001c0001t0003g0137 | 3 | 394 | 0.0076 | -17 | c.-33 others(28): Show |
MTHFS | ENSG00000136371.11 | transcript | ENST00000258874.4 | protein_coding | 3349 | chr15 | TogoVar | ||||||
| MTM1_chrX_150563621_150678143 | 150583166 | TTATATAA others(10): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 277 | 0.0072 | -17 | c.-10 others(34): Show |
MTM1 | ENSG00000171100.16 | transcript | ENST00000370396.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MTMR12_chr5_32222007_32317939 | 32279076 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG04228.hp2 NA18966.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0075a0001c0001t0001g0137a0001c0001t0001g0347others(4): Show | 7 | 364 | 0.0192 | -17 | c.82- others(32): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 1/15 | chr5 | TogoVar | ||||||
| MTMR1_chrX_150688396_150770108 | 150718583 | CCTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0027 | 1 | 270 | 0.0037 | -17 | c.277 others(30): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 3/15 | chrX | TogoVar | ||||||
| MTMR1_chrX_150688396_150770108 | 150769689 | GCCTCGGC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0126a0001c0001t0003g0014a0001c0001t0003g0198others(41): Show | 48 | 270 | 0.1778 | -17 | c.*69 others(28): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 4582 | chrX | TogoVar | ||||||
| MTMR3_chr22_29878174_30035868 | 29949124 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0239 | 1 | 334 | 0.0030 | -17 | c.-13 others(36): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | chr22 | TogoVar | ||||||
| MTMR3_chr22_29878174_30035868 | 29949126 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0010a0001c0002t0011a0003c0004t0010 | a0001c0002t0010g0242a0001c0002t0011g0233a0001c0002t0011g0237others(2): Show | 5 | 334 | 0.0150 | -17 | c.-13 others(36): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | chr22 | TogoVar | ||||||
| MTMR3_chr22_29878174_30035868 | 29949127 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0052 | a0001c0001t0003g0004a0001c0002t0052g0205 | 2 | 334 | 0.0060 | -17 | c.-13 others(36): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MTMR3_chr22_29878174_30035868 | 29949131 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 334 | 0.0030 | -17 | c.-13 others(36): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MTMR3_chr22_29878174_30035868 | 29986820 | TTACAGGC others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014a0001c0002t0018others(6): Show | a0001c0002t0006g0254a0001c0002t0006g0258a0001c0002t0014g0257others(17): Show | 20 | 334 | 0.0599 | -17 | c.211 others(34): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MTMR6_chr13_25241222_25292488 | 25245880 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00639.hp2 others(58): Show |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0002a0001c0002t0006a0001c0002t0016others(4): Show | a0001c0002t0002g0005a0001c0002t0002g0006a0001c0002t0002g0017others(57): Show | 61 | 346 | 0.1763 | -17 | c.*33 others(28): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 341 | chr13 | TogoVar | ||||||
| MTMR6_chr13_25241222_25292488 | 25274388 | CAAATGTA others(10): Show |
C | intron_variant | MODIFIER | NA19006.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0038 | 1 | 346 | 0.0029 | -17 | c.25- others(30): Show |
MTMR6 | ENSG00000139505.13 | transcript | ENST00000381801.6 | protein_coding | 1/13 | chr13 | TogoVar | ||||||
| MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0134 | 2 | 190 | 0.0105 | -17 | c.148 others(38): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
| MTOR_chr1_11101535_11267551 | 11110888 | AGAACTGG others(10): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 256 | 0.0039 | -17 | c.736 others(36): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 54/57 | chr1 | TogoVar | ||||||
| MTOR_chr1_11101535_11267551 | 11154068 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 256 | 0.0039 | -17 | c.446 others(36): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 30/57 | chr1 | TogoVar | ||||||
| MTRES1_chr6_107023199_107056586 | 107050166 | TGCACTGT others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 406 | 0.0025 | -17 | c.544 others(32): Show |
MTRES1 | ENSG00000130349.10 | transcript | ENST00000311381.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| MTRF1_chr13_41211369_41268576 | 41218281 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0068others(5): Show | 9 | 332 | 0.0271 | -17 | c.122 others(36): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 9/9 | chr13 | TogoVar | ||||||
| MTRFR_chr12_123228436_123262960 | 123253070 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0215a0001c0001t0004g0255a0001c0001t0004g0256others(1): Show | 4 | 306 | 0.0131 | -17 | c.-28 others(32): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MTRFR_chr12_123228436_123262960 | 123257394 | TAATCCCA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0097 | 1 | 306 | 0.0033 | -17 | c.*36 others(26): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 3/3 | 365 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| MTSS1_chr8_124545784_124733473 | 124624514 | GCAGCTCC others(10): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp2 NA18906.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0003 | a0001c0004t0001g0166a0002c0002t0003g0073a0002c0002t0003g0153 | 3 | 286 | 0.0105 | -17 | c.209 others(36): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| MTUS1_chr8_17638802_17806094 | 17742274 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0016 | a0016c0062 | a0016c0062t0038 | a0016c0062t0038g0008 | 1 | 330 | 0.0030 | -17 | c.228 others(36): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 3/14 | chr8 | TogoVar | ||||||
| MTUS2_chr13_28815339_29510947 | 28910341 | CATTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 | 1 | 92 | 0.0109 | -17 | c.-24 others(38): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MTUS2_chr13_28815339_29510947 | 29071409 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0004 | 1 | 92 | 0.0109 | -17 | c.244 others(38): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| MTUS2_chr13_28815339_29510947 | 29120238 | GAAACCTT others(10): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0013 | a0001c0005a0001c0012a0002c0002others(1): Show | a0001c0005t0001a0001c0012t0010a0002c0002t0004others(1): Show | a0001c0005t0001g0074a0001c0012t0010g0068a0002c0002t0004g0058others(1): Show | 4 | 92 | 0.0435 | -17 | c.264 others(38): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |