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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MS4A14_chr11_60391459_60422756 | 60409852 | CTATGTCA others(25): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(424): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(168): Show | 427 | 428 | 0.9977 | -32 | c.469 others(49): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MSH3_chr5_80649652_80881815 | 80693077 | ATATGTTT others(25): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02683.hp2 others(5): Show |
a0003a0008a0022 | a0003c0004a0008c0010a0008c0024others(1): Show | a0003c0004t0004a0008c0010t0009a0008c0024t0009others(1): Show | a0003c0004t0004g0253a0003c0004t0004g0254a0003c0004t0004g0255others(5): Show | 8 | 362 | 0.0221 | -32 | c.134 others(53): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75885990 | TTATATAG others(25): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG03516.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0021a0001c0004t0001g0022a0001c0004t0001g0033 | 3 | 332 | 0.0090 | -32 | c.210 others(51): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSH4_chr1_75791882_75918242 | 75902673 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 332 | 0.0030 | -32 | c.261 others(51): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MSN_chrX_65662654_65746931 | 65670896 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | NA19062.hp1 NA19076.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0154a0002c0002t0001g0155 | 2 | 170 | 0.0118 | -32 | c.12+ others(47): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MSN_chrX_65662654_65746931 | 65742752 | CCCTTCCT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 170 | 0.0059 | -32 | c.*28 others(43): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 822 | chrX | TogoVar | ||||||
MT4_chr16_56560073_56573957 | 56566717 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100 | 2 | 428 | 0.0047 | -32 | c.32- others(46): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566791 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 428 | 0.0023 | -32 | c.32- others(45): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MT4_chr16_56560073_56573957 | 56566795 | AAAGAAAG others(25): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 428 | 0.0023 | -32 | c.32- others(45): Show |
MT4 | ENSG00000102891.4 | transcript | ENST00000219162.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MTA1_chr14_105414827_105475729 | 105469167 | GGGTGGAC others(25): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0220 | 1 | 304 | 0.0033 | -32 | c.181 others(49): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTCH2_chr11_47612317_47647559 | 47637019 | GCAATCTC others(25): Show |
G | intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 370 | 0.0027 | -32 | c.280 others(49): Show |
MTCH2 | ENSG00000109919.10 | transcript | ENST00000302503.8 | protein_coding | 3/12 | chr11 | TogoVar | ||||||
MTCL1_chr18_8700556_8837778 | 8729673 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00639.hp2 others(17): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0240a0001c0001t0003g0230a0001c0001t0007g0332others(17): Show | 20 | 336 | 0.0595 | -32 | c.143 others(51): Show |
MTCL1 | ENSG00000168502.18 | transcript | ENST00000695636.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97682230 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 370 | 0.0027 | -32 | c.484 others(49): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTG2_chr20_62178028_62208568 | 62204371 | TGTGTGTG others(25): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0060a0001c0002t0009g0223 | 2 | 412 | 0.0049 | -32 | c.*32 others(43): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 804 | chr20 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204373 | TGTGTGTG others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0015 | a0001c0002t0009g0082a0001c0002t0015g0237 | 2 | 412 | 0.0049 | -32 | c.*32 others(43): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 806 | chr20 | TogoVar | ||||||
MTG2_chr20_62178028_62208568 | 62204375 | TGTGTGTG others(25): Show |
T | downstream_gene_variant | MODIFIER | NA18981.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0009 | a0001c0001t0029g0291a0001c0002t0009g0312 | 2 | 412 | 0.0049 | -32 | c.*32 others(43): Show |
MTG2 | ENSG00000101181.18 | transcript | ENST00000370823.8 | protein_coding | 808 | chr20 | TogoVar | ||||||
MTHFD1_chr14_64383353_64465025 | 64397136 | AAAATATA others(25): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 342 | 0.0029 | -32 | c.42- others(47): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTIF2_chr2_55231595_55274231 | 55253794 | GACAGAGT others(25): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00621.hp1 others(143): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0011t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(104): Show | 146 | 384 | 0.3802 | -32 | c.664 others(47): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 7/15 | chr2 | TogoVar | ||||||
MTMR1_chrX_150688396_150770108 | 150760351 | GATGCAAG others(25): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 270 | 0.0037 | -32 | c.185 others(51): Show |
MTMR1 | ENSG00000063601.17 | transcript | ENST00000445323.7 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MTMR3_chr22_29878174_30035868 | 29906274 | GTCTGTCT others(25): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0298 | 1 | 334 | 0.0030 | -32 | c.-13 others(53): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MTMR8_chrX_64263081_64400452 | 64287999 | CAAAAAAA others(25): Show |
C | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 190 | 0.0053 | -32 | c.148 others(53): Show |
MTMR8 | ENSG00000102043.16 | transcript | ENST00000374852.4 | protein_coding | 12/13 | chrX | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186543188 | TGTGCTTA others(25): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0197 | 1 | 396 | 0.0025 | -32 | c.185 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186546259 | CTAGGGAG others(25): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0189 | 1 | 396 | 0.0025 | -32 | c.184 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186546693 | ACCTGTTC others(25): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0072a0001c0001t0001g0079 | 4 | 396 | 0.0101 | -32 | c.184 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTO1_chr6_73456737_73514236 | 73461534 | AAAATAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(65): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0130others(188): Show | 196 | 396 | 0.4950 | -32 | c.-32 others(41): Show |
MTO1 | ENSG00000135297.17 | transcript | ENST00000498286.6 | protein_coding | 202 | chr6 | TogoVar | ||||||
MTRF1_chr13_41211369_41268576 | 41219114 | AACCCCGT others(25): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(176): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(151): Show | 179 | 332 | 0.5392 | -32 | c.122 others(51): Show |
MTRF1 | ENSG00000120662.16 | transcript | ENST00000379480.9 | protein_coding | 9/9 | chr13 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29491003 | GTGTGGTG others(25): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03225.hp1 |
a0003a0004a0010 | a0003c0003a0004c0016a0010c0021 | a0003c0003t0008a0004c0016t0012a0010c0021t0008 | a0003c0003t0008g0069a0004c0016t0012g0076a0010c0021t0008g0051 | 3 | 92 | 0.0326 | -32 | c.350 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC15_chr11_26554032_26577263 | 26564728 | CACACATA others(25): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG01978.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003 | 4 | 466 | 0.0086 | -32 | c.775 others(47): Show |
MUC15 | ENSG00000169550.14 | transcript | ENST00000529533.6 | protein_coding | 3/4 | chr11 | TogoVar | ||||||
MUC21_chr6_30978718_30994903 | 30989842 | TGTGGCCA others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 | 1 | 448 | 0.0022 | -32 | c.*16 others(43): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 3/3 | 1650 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
MUSK_chr9_110663791_110811558 | 110686452 | CTTATTTG others(25): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0040 | 1 | 326 | 0.0031 | -32 | c.207 others(47): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 2/14 | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690541 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01255.hp1 HG01258.hp1 others(9): Show |
a0001a0002a0012 | a0001c0001a0002c0004a0012c0023 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0219a0001c0001t0001g0221a0001c0001t0001g0225others(9): Show | 12 | 326 | 0.0368 | -32 | c.358 others(49): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MXI1_chr10_110202605_110292365 | 110226786 | GGGGAGCG others(25): Show |
G | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186 | 1 | 372 | 0.0027 | -32 | c.275 others(49): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYADM_chr19_53862883_53881435 | 53878632 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG02273.hp1 HG03239.hp2 NA18960.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0002g0002others(2): Show | 5 | 378 | 0.0132 | -32 | c.*41 others(43): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2198 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878634 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(12): Show | 43 | 378 | 0.1138 | -32 | c.*41 others(43): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2200 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878636 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(36): Show | 128 | 378 | 0.3386 | -32 | c.*41 others(43): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2202 | chr19 | TogoVar | ||||||
MYADM_chr19_53862883_53881435 | 53878638 | AAAAAAAA others(25): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01071.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0002g0001others(7): Show | 14 | 378 | 0.0370 | -32 | c.*41 others(43): Show |
MYADM | ENSG00000179820.16 | transcript | ENST00000391770.9 | protein_coding | 2204 | chr19 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50456306 | ATCCATCC others(25): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0029 | a0001c0001t0001a0001c0029t0003 | a0001c0001t0001g0045a0001c0029t0003g0051 | 2 | 396 | 0.0051 | -32 | c.233 others(49): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYBPC3_chr11_47326406_47357702 | 47353904 | ACAACACC others(25): Show |
A | upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 374 | 0.0027 | -32 | c.-12 others(43): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 1203 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77130285 | GTCATTTT others(25): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0333 | 1 | 334 | 0.0030 | -32 | c.766 others(51): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 52/82 | chr13 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672026 | TGTGAATA others(25): Show |
T | upstream_gene_variant | MODIFIER | HG03486.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0309 | 1 | 410 | 0.0024 | -32 | c.-17 others(43): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1685 | chr19 | TogoVar | ||||||
MYH13_chr17_10295865_10378006 | 10365840 | GGTGTGTG others(25): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0009 | a0009c0049 | a0009c0049t0001 | a0009c0049t0001g0151 | 1 | 382 | 0.0026 | -32 | c.-12 others(49): Show |
MYH13 | ENSG00000006788.14 | transcript | ENST00000252172.9 | protein_coding | 2/40 | chr17 | TogoVar | ||||||
MYH14_chr19_50198622_50315540 | 50251504 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0081others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0087a0001c0001t0002g0075a0001c0001t0002g0083others(7): Show | 10 | 298 | 0.0336 | -32 | c.183 others(49): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 15/42 | chr19 | TogoVar | ||||||
MYH15_chr3_108375368_108515596 | 108507226 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0058 | 1 | 306 | 0.0033 | -32 | c.89- others(47): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 1/40 | chr3 | TogoVar | ||||||
MYLK_chr3_123605049_123889332 | 123827694 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0006a0003c0013a0004c0088others(1): Show | a0001c0006t0007a0003c0013t0005a0004c0088t0024others(1): Show | a0001c0006t0007g0087a0003c0013t0005g0089a0004c0088t0024g0010others(1): Show | 4 | 156 | 0.0256 | -32 | c.-4+ others(47): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 3/33 | chr3 | TogoVar | ||||||
MYMK_chr9_133509586_133529959 | 133519983 | GCATTTAA others(25): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 456 | 0.0022 | -32 | c.250 others(47): Show |
MYMK | ENSG00000187616.5 | transcript | ENST00000339996.4 | protein_coding | 2/4 | chr9 | TogoVar | ||||||
MYO10_chr5_16656907_16941288 | 16889478 | AGAAGGAA others(25): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02965.hp2 HG03579.hp1 others(1): Show |
a0002a0032a0035 | a0002c0002a0032c0060a0035c0062 | a0002c0002t0017a0002c0002t0050a0032c0060t0092others(1): Show | a0002c0002t0017g0252a0002c0002t0050g0255a0032c0060t0092g0256others(1): Show | 4 | 272 | 0.0147 | -32 | c.22- others(49): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | ||||||
MYO15B_chr17_75582800_75631849 | 75594171 | TTTCTAAT others(25): Show |
T | intron_variant | MODIFIER | NA18987.hp2 | a0062 | a0062c0197 | a0062c0197t0001 | a0062c0197t0001g0139 | 1 | 384 | 0.0026 | -32 | c.299 others(49): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 9/63 | chr17 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108936085 | TTTCCTTC others(25): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0016 | 1 | 152 | 0.0066 | -32 | c.192 others(53): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972351 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG01891.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0012a0001c0002t0002g0090a0001c0002t0004g0048others(13): Show | 16 | 152 | 0.1053 | -32 | c.236 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108997310 | AAGAAAGA others(25): Show |
A | intron_variant | MODIFIER | HG01069.hp1 NA19011.hp2 |
a0014a0031 | a0014c0057a0031c0027 | a0014c0057t0001a0031c0027t0010 | a0014c0057t0001g0023a0031c0027t0010g0081 | 2 | 152 | 0.0132 | -32 | c.244 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 21/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |