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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH2_chr2_47398156_47488223 | 47461946 | TCTTTTCT others(18): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 362 | 0.0028 | -25 | c.138 others(44): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461951 | TCTTTTCT others(18): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0217 others(1): Show |
4 | 364 | 0.0110 | -25 | c.138 others(44): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461956 | TCTTTTCT others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00733.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0170 a0001c0001t0001g0171 others(12): Show |
15 | 350 | 0.0429 | -25 | c.138 others(44): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47461961 | TCTTTTCT others(18): Show |
T | intron_variant | MODIFIER | HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 |
2 | 315 | 0.0063 | -25 | c.138 others(44): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767680 | GGAGGGGC others(18): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0193 |
2 | 378 | 0.0053 | -25 | c.159 others(42): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10074058 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 7 | 0.1429 | -25 | c.142 others(44): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566794 | GAAAGAAA others(18): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01081.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0015 others(7): Show |
40 | 425 | 0.0941 | -25 | c.32- others(38): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56568223 | GAAAGAAA others(18): Show |
G | intron_variant | MODIFIER | NA18941.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 401 | 0.0050 | -25 | c.97+ others(38): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682247 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG03831.hp1 NA18980.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0306 a0001c0001t0004g0343 a0001c0001t0010g0342 |
3 | 365 | 0.0082 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682249 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG00673.hp2 NA19083.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0006t0004 | a0001c0001t0010g0353 a0001c0006t0004g0260 |
2 | 367 | 0.0054 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682255 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG02630.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0096 a0001c0001t0012g0015 |
2 | 368 | 0.0054 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
MTDH_chr8_97639184_97735260 | 97682256 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 366 | 0.0027 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682260 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01109.hp2 NA19240.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0113 a0001c0001t0005g0177 |
3 | 360 | 0.0083 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTDH_chr8_97639184_97735260 | 97682262 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 a0001c0001t0005g0118 |
2 | 367 | 0.0054 | -25 | c.484 others(42): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65662060 | TCTCTCCC others(18): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 346 | 0.0029 | -25 | c.-80 others(42): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 151091046 | CCCATGCG others(18): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 200 | 0.0050 | -25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 151091146 | CCCATGTG others(18): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 223 | 0.0045 | -25 | c.284 others(44): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397133 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0206 |
2 | 324 | 0.0062 | -25 | c.42- others(40): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397135 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0295 | 1 | 305 | 0.0033 | -25 | c.42- others(40): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MTIF3_chr13_27430643_27455564 | 27450550 | GTACAGCG others(18): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02258.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0025 a0001c0001t0002g0060 a0001c0001t0002g0061 others(7): Show |
14 | 412 | 0.0340 | -25 | c.-13 others(34): Show |
MTIF3 | ENSG00000122033.15 | transcript | ENST00000381120.8 | protein_coding | 1/5 | 10103 | chr13 | TogoVar | ||||||
MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0149 others(11): Show |
14 | 34 | 0.4118 | -25 | c.148 others(46): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | |||||||
MTRES1_chr6_107023199_107056586 | 107035037 | CTGTGCCA others(18): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 404 | 0.0025 | -25 | c.-12 others(42): Show |
MTRES1 | ENSG00000130349.10 | transcript | ENST00000311381.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MTRR_chr5_7864148_7906113 | 7887805 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0009 | a0009c0008 | a0009c0008t0005 | a0009c0008t0005g0232 | 1 | 426 | 0.0023 | -25 | c.114 others(44): Show |
MTRR | ENSG00000124275.15 | transcript | ENST00000440940.7 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
MTSS2_chr16_70656204_70691053 | 70660839 | GGCCCAGC others(18): Show |
G | downstream_gene_variant | MODIFIER | HG03831.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0046 | a0001c0001t0049g0032 a0001c0002t0046g0337 |
2 | 138 | 0.0145 | -25 | c.*28 others(36): Show |
MTSS2 | ENSG00000132613.16 | transcript | ENST00000338779.11 | protein_coding | 364 | chr16 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99604615 | TTTTACTT others(18): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0277 | 1 | 362 | 0.0028 | -25 | c.134 others(44): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17649422 | GCTATTCA others(18): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0076 | a0001c0076t0004 | a0001c0076t0004g0323 | 1 | 328 | 0.0030 | -25 | c.350 others(42): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 13/14 | chr8 | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 29003263 | TACTATCA others(18): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03225.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0020 | a0001c0001t0003a0002c0002t0004a0004c0020t0001 | a0001c0001t0003g0038 a0002c0002t0004g0039 a0004c0020t0001g0017 |
3 | 90 | 0.0333 | -25 | c.-24 others(46): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | chr13 | TogoVar | |||||||
MUC20_chr3_195715978_195738551 | 195731975 | CTTTTGTT others(18): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00639.hp2 others(78): Show |
a0001a0002a0008others(13): Show | a0001c0001a0001c0047a0001c0061others(24): Show | a0001c0001t0001a0001c0047t0001a0001c0061t0001others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(54): Show |
81 | 142 | 0.5704 | -25 | c.206 others(44): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110689676 | TATATAAC others(18): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG02965.hp1 others(1): Show |
a0001a0002 | a0001c0010a0002c0027 | a0001c0010t0006a0002c0027t0005 | a0001c0010t0006g0132 a0001c0010t0006g0133 a0001c0010t0006g0134 others(1): Show |
4 | 324 | 0.0123 | -25 | c.358 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701674 | TATTTTTT others(18): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0122 | 1 | 323 | 0.0031 | -25 | c.628 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110701685 | CTTTACTT others(18): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0276 | 1 | 257 | 0.0039 | -25 | c.628 others(42): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MVD_chr16_88646940_88668091 | 88667052 | CTCCGCCT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02965.hp1 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0003a0004c0007t0001 | a0001c0002t0003g0021 a0004c0007t0001g0220 |
3 | 432 | 0.0069 | -25 | c.-39 others(36): Show |
MVD | ENSG00000167508.12 | transcript | ENST00000301012.8 | protein_coding | 3962 | chr16 | TogoVar | |||||||
MXD3_chr5_177302210_177316898 | 177314936 | AGGGGAGC others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 402 | 0.0025 | -25 | c.-31 others(36): Show |
MXD3 | ENSG00000213347.11 | transcript | ENST00000439742.7 | protein_coding | 3039 | chr5 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878633 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 351 | 0.0028 | -25 | c.*41 others(36): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2199 | chr19 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878635 | AAAAAAAA others(18): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0028 | 1 | 348 | 0.0029 | -25 | c.*41 others(36): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2201 | chr19 | TogoVar | |||||||
MYADM_chr19_53862883_53881435 | 53878651 | ATATATAT others(18): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0019 | 1 | 376 | 0.0027 | -25 | c.*41 others(36): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2217 | chr19 | TogoVar | |||||||
MYBPHL_chr1_109287365_109312011 | 109300735 | AGAGAGCA others(18): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0002c0003t0003 | a0001c0002t0003g0145 a0001c0002t0003g0146 a0002c0003t0003g0045 others(1): Show |
6 | 434 | 0.0138 | -25 | c.146 others(42): Show |
MYBPHL | ENSG00000221986.7 | transcript | ENST00000357155.2 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77285874 | GAAAGGAA others(18): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0291 | 1 | 332 | 0.0030 | -25 | c.594 others(42): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77317938 | AAACATAA others(18): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0040 | a0002c0040t0001 | a0002c0040t0001g0297 | 1 | 93 | 0.0108 | -25 | c.302 others(42): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 1/82 | chr13 | TogoVar | |||||||
MYCT1_chr6_152692897_152729569 | 152703940 | TTTTTATT others(18): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG03516.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0155 a0001c0001t0003g0036 a0001c0001t0009g0036 |
3 | 93 | 0.0323 | -25 | c.196 others(42): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15775413 | TTGGTTTA others(18): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(165): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0005others(30): Show | a0001c0002t0001a0001c0002t0008a0001c0003t0001others(36): Show | a0001c0002t0001g0024 a0001c0002t0001g0113 a0001c0002t0001g0119 others(165): Show |
168 | 296 | 0.5676 | -25 | c.889 others(40): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 8/40 | chr16 | TogoVar | |||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0349 | 1 | 197 | 0.0051 | -25 | c.*52 others(34): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | |||||||
MYH15_chr3_108375368_108515596 | 108427612 | CACACAAC others(18): Show |
C | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 304 | 0.0033 | -25 | c.370 others(42): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 27/40 | chr3 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384606 | AAAAAAAT others(18): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG02735.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0003t0003g0100 |
3 | 236 | 0.0127 | -25 | c.-20 others(42): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYH9_chr22_36276280_36392967 | 36384608 | AAAAATAT others(18): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01433.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0026 | a0001c0003t0003a0002c0002t0003a0003c0026t0002 | a0001c0003t0003g0021 a0002c0002t0003g0101 a0002c0002t0003g0103 others(2): Show |
5 | 233 | 0.0215 | -25 | c.-20 others(42): Show |
MYH9 | ENSG00000100345.23 | transcript | ENST00000216181.11 | protein_coding | 1/40 | chr22 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607912 | TATATATA others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0007 | a0007c0016 | a0007c0016t0012 | a0007c0016t0012g0119 | 1 | 154 | 0.0065 | -25 | c.*61 others(36): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2136 | chr3 | TogoVar | |||||||
MYLK_chr3_123605049_123889332 | 123607914 | TATATATA others(18): Show |
T | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0081 | a0005c0081t0044 | a0005c0081t0044g0125 | 1 | 154 | 0.0065 | -25 | c.*61 others(36): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2134 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770573 | TATATAAA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 a0001c0001t0002g0097 |
2 | 348 | 0.0057 | -25 | c.-29 others(36): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2822 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771331 | TATAAAAA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021 | a0001c0001t0012g0096 a0001c0001t0021g0043 |
2 | 348 | 0.0057 | -25 | c.-21 others(36): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2064 | chr3 | TogoVar | |||||||
MYO16_chr13_108624611_109213005 | 108873611 | CACCAGGA others(18): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0123 | 1 | 150 | 0.0067 | -25 | c.142 others(44): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |