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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MX1_chr21_41421239_41464212 | 41458472 | A | AGTCCCCT others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00609.hp2 others(66): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0017others(8): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0004g0237a0001c0002t0001g0010a0001c0002t0001g0022others(50): Show | 69 | 408 | 0.1691 | 32 | c.175 others(47): Show |
MX1 | ENSG00000157601.15 | transcript | ENST00000398598.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MXRA5_chrX_3303565_3351652 | 3341184 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0008 | a0008c0043 | a0008c0043t0002 | a0008c0043t0002g0143 | 1 | 284 | 0.0035 | 32 | c.188 others(49): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 2/6 | chrX | TogoVar | ||||||
MYBPC3_chr11_47326406_47357702 | 47348908 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp1 others(25): Show |
a0001a0015 | a0001c0001a0001c0002a0015c0023 | a0001c0001t0001a0001c0002t0001a0015c0023t0001 | a0001c0001t0001g0008a0001c0001t0001g0069a0001c0001t0001g0120others(17): Show | 28 | 374 | 0.0749 | 32 | c.655 others(47): Show |
MYBPC3 | ENSG00000134571.12 | transcript | ENST00000545968.6 | protein_coding | 5/34 | chr11 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(25): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 334 | 0.0030 | 32 | c.547 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(25): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02451.hp1 HG02486.hp2 others(10): Show |
a0001a0002 | a0001c0003a0002c0007a0002c0040 | a0001c0003t0001a0002c0007t0001a0002c0040t0001 | a0001c0003t0001g0041a0001c0003t0001g0042a0001c0003t0001g0073others(10): Show | 13 | 334 | 0.0389 | 32 | c.547 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77286787 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 334 | 0.0030 | 32 | c.594 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 3/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294111 | T | TATATACA others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 334 | 0.0030 | 32 | c.378 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294113 | T | TATACATA others(25): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02559.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0013 | 3 | 334 | 0.0090 | 32 | c.378 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294127 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 334 | 0.0030 | 32 | c.378 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATACA others(25): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 334 | 0.0030 | 32 | c.378 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBP2_chr13_77039657_77332094 | 77294129 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02080.hp2 HG03927.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0166a0001c0001t0001g0179others(7): Show | 10 | 334 | 0.0299 | 32 | c.378 others(49): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 2/82 | chr13 | TogoVar | ||||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 376 | 0.0027 | 32 | c.125 others(49): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 376 | 0.0027 | 32 | c.125 others(49): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03540.hp2 |
a0002a0018 | a0002c0003a0018c0020 | a0002c0003t0001a0018c0020t0001 | a0002c0003t0001g0194a0018c0020t0001g0207 | 2 | 376 | 0.0053 | 32 | c.125 others(49): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCBPAP_chr17_50503439_50536501 | 50522709 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0212 | 1 | 376 | 0.0027 | 32 | c.125 others(49): Show |
MYCBPAP | ENSG00000136449.16 | transcript | ENST00000323776.11 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MYCT1_chr6_152692897_152729569 | 152697679 | A | AACACACA others(25): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02129.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0033 | a0002c0002t0004g0005a0002c0002t0004g0012a0002c0002t0004g0022others(1): Show | 8 | 444 | 0.0180 | 32 | c.-22 others(41): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 217 | chr6 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4654258 | C | CAATACAG others(25): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 410 | 0.0024 | 32 | c.*37 others(43): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3286 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4671910 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 410 | 0.0024 | 32 | c.-15 others(43): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1569 | chr19 | TogoVar | ||||||
MYDGF_chr19_4652545_4675342 | 4672030 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01255.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(12): Show | 19 | 410 | 0.0463 | 32 | c.-16 others(43): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 1689 | chr19 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8489706 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18984.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0007 | a0001c0002t0002g0243a0001c0003t0007g0159 | 2 | 274 | 0.0073 | 32 | c.488 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 35/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8511071 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 |
a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0169a0004c0012t0002g0170 | 2 | 274 | 0.0073 | 32 | c.295 others(51): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 24/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8547794 | A | ATATTTAT others(25): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0003a0001c0001t0004g0248a0001c0001t0006g0006others(5): Show | 8 | 274 | 0.0292 | 32 | c.115 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 11/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8585286 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0246a0001c0002t0003g0247 | 2 | 274 | 0.0073 | 32 | c.530 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8585288 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 | 1 | 274 | 0.0037 | 32 | c.530 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 4/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8592933 | C | CCATATAT others(25): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0074 | 1 | 274 | 0.0037 | 32 | c.503 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | ||||||
MYH10_chr17_8469224_8635725 | 8596630 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 274 | 0.0037 | 32 | c.503 others(49): Show |
MYH10 | ENSG00000133026.14 | transcript | ENST00000360416.8 | protein_coding | 3/42 | chr17 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15712882 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18981.hp1 NA18999.hp1 NA19005.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0024a0002c0001t0001g0121a0002c0001t0001g0135others(1): Show | 4 | 297 | 0.0135 | 32 | c.578 others(51): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 40/40 | chr16 | TogoVar | ||||||
MYH14_chr19_50198622_50315540 | 50207271 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18971.hp2 NA18980.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0157a0001c0001t0001g0265a0001c0013t0001g0156 | 3 | 298 | 0.0101 | 32 | c.-3- others(47): Show |
MYH14 | ENSG00000105357.20 | transcript | ENST00000642316.2 | protein_coding | 1/42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
MYH1_chr17_10487307_10523542 | 10488898 | C | CTCTTTCT others(25): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 360 | 0.0028 | 32 | c.*35 others(43): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 3408 | chr17 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10495760 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0118a0001c0001t0001g0119others(4): Show | 8 | 360 | 0.0222 | 32 | c.516 others(49): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 35/39 | chr17 | TogoVar | ||||||
MYL12B_chr18_3257133_3283461 | 3281910 | T | TTTCCTTC others(25): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp2 HG02735.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0002a0001c0001t0002g0009others(8): Show | 13 | 430 | 0.0302 | 32 | c.*39 others(43): Show |
MYL12B | ENSG00000118680.14 | transcript | ENST00000237500.10 | protein_coding | 3450 | chr18 | TogoVar | ||||||
MYO15A_chr17_18103756_18184800 | 18105690 | G | GGGGGGGG others(25): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0005 | a0005c0020 | a0005c0020t0002 | a0005c0020t0002g0004 | 1 | 328 | 0.0031 | 32 | c.-33 others(43): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 3065 | chr17 | TogoVar | ||||||
MYO16_chr13_108624611_109213005 | 108753370 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0040 | a0009c0040t0004 | a0009c0040t0004g0121 | 1 | 152 | 0.0066 | 32 | c.507 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 108972249 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0050 | 1 | 152 | 0.0066 | 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 | 109010957 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01978.hp1 |
a0001a0003 | a0001c0005a0003c0019 | a0001c0005t0001a0003c0019t0002 | a0001c0005t0001g0011a0003c0019t0002g0151 | 2 | 152 | 0.0132 | 32 | c.259 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CACAGAGA others(25): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0008 | a0008c0014 | a0008c0014t0011 | a0008c0014t0011g0004 | 1 | 152 | 0.0066 | 32 | c.279 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109040385 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0039 | 1 | 152 | 0.0066 | 32 | c.279 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO16_chr13_108624611_109213005 | 109199196 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0051 | a0002c0051t0001 | a0002c0051t0001g0088 | 1 | 152 | 0.0066 | 32 | c.541 others(51): Show |
MYO16 | ENSG00000041515.16 | transcript | ENST00000457511.7 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MYO18A_chr17_29066122_29185398 | 29116613 | G | GCACACAC others(25): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 NA18522.hp2 |
a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0022a0002c0008t0003g0205a0002c0008t0003g0207 | 3 | 306 | 0.0098 | 32 | c.203 others(49): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 10/41 | chr17 | TogoVar | ||||||
MYO18A_chr17_29066122_29185398 | 29154121 | T | TGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0004 | 1 | 306 | 0.0033 | 32 | c.999 others(51): Show |
MYO18A | ENSG00000196535.20 | transcript | ENST00000527372.7 | protein_coding | 2/41 | chr17 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25756603 | T | TCCTCCCC others(25): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0040 | 1 | 228 | 0.0044 | 32 | c.-10 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948523 | T | TCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02698.hp1 HG02698.hp2 others(3): Show |
a0001a0002a0010others(3): Show | a0001c0001a0002c0002a0010c0013others(3): Show | a0001c0001t0004a0002c0002t0001a0010c0013t0001others(3): Show | a0001c0001t0004g0170a0002c0002t0001g0083a0010c0013t0001g0063others(3): Show | 6 | 228 | 0.0263 | 32 | c.574 others(49): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25948527 | T | TCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01168.hp1 others(12): Show |
a0002a0003a0004others(9): Show | a0002c0111a0002c0112a0003c0014others(12): Show | a0002c0111t0001a0002c0112t0001a0003c0014t0001others(12): Show | a0002c0111t0001g0159a0002c0112t0001g0162a0003c0014t0001g0126others(12): Show | 15 | 228 | 0.0658 | 32 | c.574 others(49): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 36/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25997978 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0111 | a0002c0111t0001 | a0002c0111t0001g0159 | 1 | 228 | 0.0044 | 32 | c.628 others(51): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 40/43 | chr22 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32552423 | T | TCCATCCA others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01109.hp1 others(37): Show |
a0001a0002a0008 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0073others(37): Show | 40 | 244 | 0.1639 | 32 | c.286 others(53): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 21/21 | chr17 | TogoVar | ||||||
MYO1D_chr17_32487522_32882124 | 32844422 | C | CTATATAT others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0034a0001c0001t0003g0032a0001c0001t0003g0033others(3): Show | 6 | 244 | 0.0246 | 32 | c.95+ others(49): Show |
MYO1D | ENSG00000176658.17 | transcript | ENST00000318217.10 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216643 | A | AGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02630.hp2 HG02723.hp1 others(1): Show |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0003a0001c0002t0010a0005c0009t0001 | a0001c0002t0003g0098a0001c0002t0010g0004a0001c0002t0010g0005others(1): Show | 4 | 226 | 0.0177 | 32 | c.110 others(51): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00741.hp2 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0003others(2): Show | a0001c0002t0001g0071a0001c0002t0001g0099a0001c0002t0002g0086others(4): Show | 7 | 226 | 0.0310 | 32 | c.110 others(51): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1E_chr15_59127434_59377871 | 59216666 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02135.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0002t0002g0186a0001c0002t0003g0114a0001c0002t0005g0054others(1): Show | 4 | 226 | 0.0177 | 32 | c.110 others(51): Show |
MYO1E | ENSG00000157483.9 | transcript | ENST00000288235.9 | protein_coding | 10/27 | chr15 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8553894 | A | ACACACAC others(25): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0164a0001c0001t0003g0084a0001c0001t0003g0204 | 3 | 342 | 0.0088 | 32 | c.327 others(47): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 4/27 | chr19 | TogoVar |