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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 370 | 0.0027 | 32 | c.104 others(51): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02165.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0035a0001c0001t0001g0048others(7): Show | 10 | 370 | 0.0270 | 32 | c.104 others(51): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697129 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02027.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0007 | a0001c0001t0001g0032a0001c0002t0003g0241a0001c0002t0007g0232 | 3 | 370 | 0.0081 | 32 | c.104 others(51): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTDH_chr8_97639184_97735260 | 97697150 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0114 | 1 | 370 | 0.0027 | 32 | c.104 others(51): Show |
MTDH | ENSG00000147649.10 | transcript | ENST00000336273.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MTERF1_chr7_91865929_91885702 | 91866751 | G | GAGGAAGG others(25): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0021 | 1 | 440 | 0.0023 | 32 | c.*68 others(43): Show |
MTERF1 | ENSG00000127989.14 | transcript | ENST00000351870.8 | protein_coding | 4177 | chr7 | TogoVar | ||||||
MTERF3_chr8_96234402_96266610 | 96250642 | A | AGGAGGAG others(25): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 294 | 0.0034 | 32 | c.677 others(47): Show |
MTERF3 | ENSG00000156469.9 | transcript | ENST00000287025.4 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
MTF1_chr1_37804574_37864592 | 37838797 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01496.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0014a0001c0001t0002g0230a0001c0001t0011g0228 | 4 | 376 | 0.0106 | 32 | c.648 others(45): Show |
MTF1 | ENSG00000188786.10 | transcript | ENST00000373036.5 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
MTFMT_chr15_64996512_65034639 | 65029828 | C | CTTTATTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0248 | 1 | 328 | 0.0031 | 32 | c.-21 others(41): Show |
MTFMT | ENSG00000103707.10 | transcript | ENST00000220058.9 | protein_coding | 190 | chr15 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25819427 | T | TGAGAGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012 | 1 | 402 | 0.0025 | 32 | c.-68 others(41): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 526 | chr1 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25819429 | T | TGTGAGAG others(25): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 1 | 402 | 0.0025 | 32 | c.-68 others(41): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 524 | chr1 | TogoVar | ||||||
MTFR1L_chr1_25814954_25837938 | 25819429 | T | TGTGTGTG others(25): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 402 | 0.0025 | 32 | c.-68 others(41): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 524 | chr1 | TogoVar | ||||||
MTHFD1L_chr6_150860702_151106887 | 150932812 | G | GAAGGAGG others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0046a0001c0001t0001g0118others(6): Show | 9 | 226 | 0.0398 | 32 | c.125 others(51): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1L_chr6_150860702_151106887 | 150994094 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01952.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0001g0143a0001c0002t0003g0184a0001c0002t0006g0151others(3): Show | 6 | 226 | 0.0266 | 32 | c.212 others(53): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MTHFD1_chr14_64383353_64465025 | 64429261 | A | AACATATA others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0042a0001c0001t0001g0052others(1): Show | 4 | 342 | 0.0117 | 32 | c.126 others(49): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
MTMR7_chr8_17291794_17418351 | 17304746 | C | CGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006a0001c0001t0012g0086 | 2 | 360 | 0.0056 | 32 | c.135 others(49): Show |
MTMR7 | ENSG00000003987.14 | transcript | ENST00000180173.10 | protein_coding | 11/13 | chr8 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186546509 | A | AATACCCT others(25): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0119 | 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 | 186546770 | A | ATCCACAC others(25): Show |
intron_variant | MODIFIER | HG03834.hp2 NA18963.hp2 NA18971.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0142a0004c0005t0001g0025a0004c0005t0001g0279others(3): Show | 8 | 396 | 0.0202 | 32 | c.184 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186547014 | C | CTGGGACA others(25): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18971.hp1 NA18980.hp1 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0025a0004c0005t0001g0279a0004c0005t0001g0280others(2): Show | 7 | 396 | 0.0177 | 32 | c.184 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTNR1A_chr4_186528655_186560567 | 186547296 | A | ATGGGACA others(25): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 396 | 0.0025 | 32 | c.184 others(49): Show |
MTNR1A | ENSG00000168412.7 | transcript | ENST00000307161.5 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11221708 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 256 | 0.0039 | 32 | c.303 others(51): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 19/57 | chr1 | TogoVar | ||||||
MTOR_chr1_11101535_11267551 | 11264863 | C | CAAATAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01891.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0003t0003a0001c0005t0002others(2): Show | a0001c0001t0002g0019a0001c0001t0002g0029a0001c0001t0002g0030others(13): Show | 16 | 256 | 0.0625 | 32 | c.-24 others(43): Show |
MTOR | ENSG00000198793.14 | transcript | ENST00000361445.9 | protein_coding | 2313 | chr1 | TogoVar | ||||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0011 | a0011c0024 | a0011c0024t0013 | a0011c0024t0013g0070 | 1 | 372 | 0.0027 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0058 | 1 | 372 | 0.0027 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18961.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0015 | a0002c0003t0003g0047a0002c0003t0015g0030 | 2 | 372 | 0.0054 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0031 | 1 | 372 | 0.0027 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897300 | C | CCACACAC others(25): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01515.hp2 |
a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0027a0002c0003t0016g0028 | 2 | 372 | 0.0054 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897302 | A | ACACACAT others(25): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0032 | 1 | 372 | 0.0027 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MTR_chr1_236790292_236908981 | 236897308 | A | ATGCGCGC others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02965.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0081a0002c0003t0007g0090a0002c0003t0007g0091others(2): Show | 5 | 372 | 0.0134 | 32 | c.371 others(49): Show |
MTR | ENSG00000116984.15 | transcript | ENST00000366577.10 | protein_coding | 32/32 | chr1 | TogoVar | ||||||
MTSS1_chr8_124545784_124733473 | 124602188 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0003 | a0001c0001t0004g0284a0002c0005t0003g0234 | 2 | 286 | 0.0070 | 32 | c.209 others(51): Show |
MTSS1 | ENSG00000170873.19 | transcript | ENST00000518547.6 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02055.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0001t0058a0001c0001t0064others(1): Show | a0001c0001t0022g0270a0001c0001t0058g0126a0001c0001t0064g0127others(1): Show | 4 | 426 | 0.0094 | 32 | c.162 others(49): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02165.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0313a0001c0002t0002g0085 | 2 | 426 | 0.0047 | 32 | c.162 others(49): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MTURN_chr7_30129986_30167762 | 30140415 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 426 | 0.0024 | 32 | c.162 others(49): Show |
MTURN | ENSG00000180354.16 | transcript | ENST00000324453.13 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(25): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 NA19043.hp2 |
a0001a0003 | a0001c0034a0003c0006 | a0001c0034t0014a0003c0006t0002 | a0001c0034t0014g0322a0003c0006t0002g0006 | 2 | 330 | 0.0061 | 32 | c.*40 others(43): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MTUS1_chr8_17638802_17806094 | 17641896 | T | TCCCCGCC others(25): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0010 | a0010c0030 | a0010c0030t0020 | a0010c0030t0020g0182 | 1 | 330 | 0.0030 | 32 | c.*40 others(43): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 1905 | chr8 | TogoVar | ||||||
MTUS2_chr13_28815339_29510947 | 29286672 | G | GTCTATCT others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0026 | a0001c0001t0001g0054a0002c0002t0026g0036 | 2 | 92 | 0.0217 | 32 | c.280 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29286672 | G | GTCTGTCT others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 |
a0006a0011 | a0006c0006a0011c0015 | a0006c0006t0005a0011c0015t0004 | a0006c0006t0005g0024a0011c0015t0004g0002 | 2 | 92 | 0.0217 | 32 | c.280 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29286672 | G | GTCTGTCT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0003 | 1 | 92 | 0.0109 | 32 | c.280 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MTUS2_chr13_28815339_29510947 | 29350960 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01978.hp1 HG02818.hp1 |
a0001a0004 | a0001c0001a0004c0019 | a0001c0001t0001a0004c0019t0001 | a0001c0001t0001g0056a0001c0001t0001g0085a0004c0019t0001g0015 | 3 | 92 | 0.0326 | 32 | c.290 others(51): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MUC21_chr6_30978718_30994903 | 30992272 | A | AGGGGGGG others(25): Show |
downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 | 1 | 448 | 0.0022 | 32 | c.*40 others(43): Show |
MUC21 | ENSG00000204544.5 | transcript | ENST00000376296.3 | protein_coding | 2370 | chr6 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195770954 | C | CGGGTTGG others(25): Show |
intron_variant | MODIFIER | HG02698.hp2 HG04228.hp1 |
a0041a0045 | a0041c0156a0045c0155 | a0041c0156t0002a0045c0155t0002 | a0041c0156t0002g0023a0045c0155t0002g0025 | 2 | 249 | 0.0080 | 32 | c.132 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771018 | T | TGGGTTGG others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 |
a0058a0059 | a0058c0200a0059c0201 | a0058c0200t0015a0059c0201t0009 | a0058c0200t0015g0234a0059c0201t0009g0237 | 2 | 249 | 0.0080 | 32 | c.132 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771146 | C | CGGGTTGG others(25): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02615.hp2 others(6): Show |
a0014a0048a0049others(6): Show | a0014c0022a0048c0146a0049c0145others(6): Show | a0014c0022t0004a0048c0146t0004a0049c0145t0008others(6): Show | a0014c0022t0004g0246a0048c0146t0004g0233a0049c0145t0008g0055others(6): Show | 9 | 249 | 0.0361 | 32 | c.132 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771364 | C | CGTGGTTG others(25): Show |
intron_variant | MODIFIER | HG02698.hp1 NA19004.hp1 NA19011.hp2 |
a0004a0021a0075 | a0004c0004a0021c0097a0075c0166 | a0004c0004t0001a0021c0097t0001a0075c0166t0001 | a0004c0004t0001g0075a0021c0097t0001g0118a0075c0166t0001g0176 | 3 | 249 | 0.0121 | 32 | c.132 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195771402 | C | CGGGTTGG others(25): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01891.hp2 others(15): Show |
a0051a0052a0056others(15): Show | a0051c0139a0052c0140a0056c0142others(15): Show | a0051c0139t0001a0052c0140t0002a0056c0142t0007others(15): Show | a0051c0139t0001g0068a0052c0140t0002g0062a0056c0142t0007g0006others(15): Show | 18 | 249 | 0.0723 | 32 | c.132 others(51): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATTATTTT others(25): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0006 | a0006c0008 | a0006c0008t0007 | a0006c0008t0007g0150 | 1 | 326 | 0.0031 | 32 | c.628 others(49): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110755978 | A | ATATACGT others(25): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 326 | 0.0031 | 32 | c.914 others(49): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 7/14 | chr9 | TogoVar | ||||||
MVK_chr12_109568794_109603125 | 109600916 | T | TACACACA others(25): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00609.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0007a0001c0002t0002g0011others(9): Show | 19 | 382 | 0.0497 | 32 | c.*43 others(43): Show |
MVK | ENSG00000110921.14 | transcript | ENST00000228510.8 | protein_coding | 2792 | chr12 | TogoVar | ||||||
MVP_chr16_29815462_29853021 | 29843500 | C | CGGAGGAA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18984.hp1 NA18995.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0094a0001c0001t0001g0159a0001c0001t0001g0168others(3): Show | 6 | 230 | 0.0261 | 32 | c.163 others(49): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG02132.hp1 others(5): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0008c0012t0001 | a0001c0001t0001g0116a0001c0001t0001g0118a0001c0001t0001g0137others(5): Show | 8 | 230 | 0.0348 | 32 | c.163 others(49): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MVP_chr16_29815462_29853021 | 29843546 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01261.hp2 others(3): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0011 | a0001c0001t0001a0001c0002t0001a0013c0011t0002 | a0001c0001t0001g0164a0001c0001t0001g0166a0001c0001t0001g0211others(3): Show | 6 | 230 | 0.0261 | 32 | c.163 others(49): Show |
MVP | ENSG00000013364.19 | transcript | ENST00000357402.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |