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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSRB3_chr12_65273683_65471907 | 65450963 | CATTAAGT others(14): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 312 | 0.0032 | -21 | c.293 others(38): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
MT1B_chr16_56646886_56658204 | 56657131 | CTTTTCTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 456 | 0.0022 | -21 | c.*40 others(32): Show |
MT1B | ENSG00000169688.11 | transcript | ENST00000334346.3 | protein_coding | 3928 | chr16 | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566798 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0090others(23): Show | 28 | 428 | 0.0654 | -21 | c.32- others(34): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682260 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 370 | 0.0027 | -21 | c.484 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682262 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0133 | 1 | 370 | 0.0027 | -21 | c.484 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682266 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115a0001c0001t0005g0116 | 2 | 370 | 0.0054 | -21 | c.484 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682268 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 370 | 0.0027 | -21 | c.484 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97683045 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0030 | 1 | 370 | 0.0027 | -21 | c.484 others(38): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97708581 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 370 | 0.0027 | -21 | c.127 others(40): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTERF4_chr2_241090571_241107287 | 241106381 | TCTATGTA others(14): Show |
T | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 398 | 0.0025 | -21 | c.-41 others(32): Show |
MTERF4 | ENSG00000122085.17 | transcript | ENST00000391980.7 | protein_coding | 4095 | chr2 | TogoVar | ||||||
MTFP1_chr22_30420768_30434054 | 30421593 | ACGAGCAT others(14): Show |
A | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 444 | 0.0023 | -21 | c.-42 others(32): Show |
MTFP1 | ENSG00000242114.6 | transcript | ENST00000266263.10 | protein_coding | 4174 | chr22 | TogoVar | ||||||
MTFR1_chr8_65639734_65715562 | 65655951 | AATATATA others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043a0001c0001t0002g0047a0001c0001t0002g0048others(3): Show | 6 | 348 | 0.0172 | -21 | c.-81 others(40): Show |
MTFR1 | ENSG00000066855.16 | transcript | ENST00000262146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTFR2_chr6_136226034_136255311 | 136255168 | GAAAACCT others(14): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 418 | 0.0024 | -21 | c.-52 others(32): Show |
MTFR2 | ENSG00000146410.12 | transcript | ENST00000420702.6 | protein_coding | 4858 | chr6 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204352 | GTGTGTGT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0010 | 1 | 412 | 0.0024 | -21 | c.*32 others(32): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 785 | chr20 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397131 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0048 | 1 | 342 | 0.0029 | -21 | c.42- others(36): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64397133 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02622.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0092a0001c0001t0001g0237a0001c0001t0002g0068 | 3 | 342 | 0.0088 | -21 | c.42- others(36): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64397135 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0086a0002c0002t0001g0241 | 2 | 342 | 0.0059 | -21 | c.42- others(36): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64397137 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01257.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0074a0003c0003t0001g0186 | 2 | 342 | 0.0059 | -21 | c.42- others(36): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64408006 | GTAGACCA others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0014a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0001others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0010others(63): Show | 66 | 342 | 0.1930 | -21 | c.127 others(38): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 190 | 0.0053 | -21 | c.148 others(42): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
MTMR8_chrX_64263081_64400452 | 64304871 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 190 | 0.0053 | -21 | c.148 others(42): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
MTPN_chr7_135921760_135982359 | 135946338 | TAGTCTAA others(14): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030a0001c0001t0005g0191 | 3 | 386 | 0.0078 | -21 | c.270 others(38): Show |
MTPN | ENSG00000105887.11 | transcript | ENST00000393085.4 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
MTRES1_chr6_107023199_107056586 | 107040045 | AAAGTCTC others(14): Show |
A | conservative_inframe_deletion | MODERATE | NA18965.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0145 | 1 | 406 | 0.0025 | -21 | c.286 others(28): Show |
p.Lys others(12): Show |
MTRES1 | ENSG00000130349.10 | transcript | ENST00000311381.8 | protein_coding | 2/4 | 371/1158 | 286/723 | 96/240 | chr6 | TogoVar | ||
MTRFR_chr12_123228436_123262960 | 123253070 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01943.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022a0001c0001t0004g0267 | 3 | 306 | 0.0098 | -21 | c.-28 others(36): Show |
MTRFR | ENSG00000130921.9 | transcript | ENST00000253233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 28975463 | GCCTGCGG others(14): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(75): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0040a0001c0001t0001g0044a0001c0001t0001g0082others(75): Show | 78 | 92 | 0.8478 | -21 | c.-24 others(42): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29390756 | GTGATGAT others(14): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0006 | a0002c0002t0004g0039a0002c0002t0006g0071 | 2 | 92 | 0.0217 | -21 | c.311 others(42): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195767814 | TCACCACC others(14): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG02155.hp2 HG02895.hp1 others(9): Show |
a0007a0015a0016others(6): Show | a0007c0007a0015c0023a0016c0024others(6): Show | a0007c0007t0003a0015c0023t0003a0016c0024t0003others(6): Show | a0007c0007t0003g0154a0007c0007t0003g0209a0015c0023t0003g0210others(9): Show | 12 | 249 | 0.0482 | -21 | c.135 others(42): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195767894 | ACCATCAC others(14): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02723.hp2 others(3): Show |
a0034a0035a0036others(3): Show | a0034c0152a0035c0151a0036c0150others(3): Show | a0034c0152t0014a0035c0151t0007a0036c0150t0007others(3): Show | a0034c0152t0014g0185a0035c0151t0007g0186a0036c0150t0007g0189others(3): Show | 6 | 249 | 0.0241 | -21 | c.135 others(42): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1255324 | CGCACGCA others(14): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01943.hp1 others(5): Show |
a0012a0036a0063 | a0012c0009a0036c0037a0063c0119 | a0012c0009t0001a0036c0037t0001a0063c0119t0001 | a0012c0009t0001g0019a0012c0009t0001g0094a0012c0009t0001g0118others(3): Show | 8 | 350 | 0.0229 | -21 | c.158 others(38): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 36/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MVB12B_chr9_126321829_126512040 | 126433296 | GGATACAC others(14): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0028 | a0001c0001t0001g0307a0001c0005t0028g0128 | 2 | 318 | 0.0063 | -21 | c.757 others(40): Show |
MVB12B | ENSG00000196814.15 | transcript | ENST00000361171.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MX1_chr21_41421239_41464212 | 41448926 | GGTTTTGT others(14): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG02004.hp2 HG02027.hp1 others(33): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0006a0007c0023others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0006t0001others(2): Show | a0001c0002t0001g0010a0001c0002t0001g0022a0001c0002t0001g0039others(22): Show | 36 | 408 | 0.0882 | -21 | c.127 others(38): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MXD1_chr2_69910109_69947945 | 69915710 | TCCCGGCC others(14): Show |
T | intron_variant | MODIFIER | HG02040.hp2 NA18951.hp1 NA18962.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019a0001c0002t0001g0035a0001c0002t0001g0186 | 8 | 418 | 0.0191 | -21 | c.73+ others(34): Show |
MXD1 | ENSG00000059728.11 | transcript | ENST00000264444.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110226873 | CTGTGAGG others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0024 | a0001c0001t0002g0359a0001c0001t0017g0058a0001c0001t0017g0274others(3): Show | 6 | 372 | 0.0161 | -21 | c.275 others(38): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MXRA7_chr17_76674566_76715965 | 76706117 | CCCACGCT others(14): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 416 | 0.0024 | -21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706411 | CCCACACT others(14): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0062 | 1 | 416 | 0.0024 | -21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MXRA7_chr17_76674566_76715965 | 76706426 | CAAAGGAC others(14): Show |
C | intron_variant | MODIFIER | HG02148.hp2 HG02630.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0061a0001c0003t0007g0288a0001c0003t0007g0289others(2): Show | 5 | 416 | 0.0120 | -21 | c.342 others(38): Show |
MXRA7 | ENSG00000182534.14 | transcript | ENST00000449428.7 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878645 | AAAAAAAT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0012 | 1 | 378 | 0.0027 | -21 | c.*41 others(32): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2211 | chr19 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101591822 | TCTCCTTC others(14): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 360 | 0.0028 | -21 | c.-32 others(32): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 3148 | chr12 | TogoVar | ||||||
MYBPC1_chr12_101589971_101691028 | 101681576 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02486.hp1 NA19240.hp1 |
a0001 | a0001c0004a0001c0021 | a0001c0004t0005a0001c0021t0005 | a0001c0004t0005g0232a0001c0021t0005g0260 | 2 | 360 | 0.0056 | -21 | c.343 others(40): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYBPC1_chr12_101589971_101691028 | 101681578 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0231 | 1 | 360 | 0.0028 | -21 | c.343 others(40): Show |
MYBPC1 | ENSG00000196091.15 | transcript | ENST00000361466.7 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYB_chr6_135176308_135224172 | 135180403 | ATTTTTTT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01175.hp1 others(38): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0021others(27): Show | 41 | 400 | 0.1025 | -21 | c.-11 others(32): Show |
MYB | ENSG00000118513.21 | transcript | ENST00000341911.10 | protein_coding | 904 | chr6 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152703945 | ATTTTATT others(14): Show |
A | intron_variant | MODIFIER | HG03516.hp1 HG06807.hp1 NA18944.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0003a0002c0002t0004a0002c0008t0004 | a0001c0001t0003g0135a0001c0001t0003g0136a0002c0002t0004g0012others(1): Show | 8 | 444 | 0.0180 | -21 | c.196 others(38): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MYD88_chr3_38133661_38148022 | 38144847 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 408 | 0.0025 | -21 | c.*35 others(32): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1826 | chr3 | TogoVar | ||||||
MYD88_chr3_38133661_38148022 | 38144851 | AAAAAAAA others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 408 | 0.0025 | -21 | c.*35 others(32): Show |
MYD88 | ENSG00000172936.18 | transcript | ENST00000650905.2 | protein_coding | 1830 | chr3 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8524449 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(75): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(11): Show | a0001c0001t0004g0003a0001c0001t0004g0248a0001c0001t0006g0006others(75): Show | 78 | 274 | 0.2847 | -21 | c.195 others(40): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 17/42 | chr17 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10300405 | CAAAAAAA others(14): Show |
C | downstream_gene_variant | MODIFIER | HG01981.hp1 NA18942.hp2 NA18969.hp2 |
a0002 | a0002c0001a0002c0038a0002c0045 | a0002c0001t0001a0002c0038t0001a0002c0045t0001 | a0002c0001t0001g0258a0002c0038t0001g0133a0002c0045t0001g0337 | 3 | 382 | 0.0079 | -21 | c.*52 others(30): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 459 | chr17 | TogoVar | ||||||
MYH6_chr14_23376987_23413273 | 23397929 | CTCCTCTT others(14): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03579.hp1 |
a0001a0002 | a0001c0002a0002c0026 | a0001c0002t0001a0002c0026t0001 | a0001c0002t0001g0283a0002c0026t0001g0035 | 2 | 370 | 0.0054 | -21 | c.189 others(38): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
MYH6_chr14_23376987_23413273 | 23397932 | CTCTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01358.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0004a0002c0007others(4): Show | a0001c0002t0001a0002c0004t0001a0002c0007t0001others(4): Show | a0001c0002t0001g0305a0002c0004t0001g0111a0002c0007t0001g0100others(4): Show | 7 | 370 | 0.0189 | -21 | c.189 others(38): Show |
MYH6 | ENSG00000197616.13 | transcript | ENST00000405093.9 | protein_coding | 15/38 | chr14 | TogoVar | ||||||
MYL12A_chr18_3242801_3261236 | 3246191 | CGTGGTGG others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 452 | 0.0022 | -21 | c.-17 others(32): Show |
MYL12A | ENSG00000101608.13 | transcript | ENST00000217652.8 | protein_coding | 1609 | chr18 | TogoVar | ||||||
MYL2_chr12_110905845_110925579 | 110916226 | CTTGGGAG others(14): Show |
C | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 368 | 0.0027 | -21 | c.94- others(34): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 2/6 | chr12 | TogoVar |