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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MDGA1_chr6_37625679_37702883 | 37698244 | C | CTCTCTCT others(42): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0008 | a0001c0008t0033 | a0001c0008t0033g0059 | 1 | 402 | 0.0025 | 49 | c.-14 others(60): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 362 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37701163 | A | AAAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0006 | a0001c0006t0069 | a0001c0006t0069g0078 | 1 | 402 | 0.0025 | 49 | c.-43 others(60): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 3281 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37701163 | A | AAAAATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0068 | a0001c0003t0068g0077 | 1 | 402 | 0.0025 | 49 | c.-43 others(60): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 3281 | chr6 | TogoVar | |||||||
MED27_chr9_131855112_132084867 | 131966383 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 274 | 0.0037 | 49 | c.480 others(68): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | |||||||
MEGF11_chr15_65890299_66258750 | 65965601 | T | TTTCTTTC others(42): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0080 | 1 | 176 | 0.0057 | 49 | c.900 others(64): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 8/25 | chr15 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090453 | A | AGGGTGGG others(42): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03669.hp1 |
a0001a0011 | a0001c0001a0011c0028 | a0001c0001t0002a0011c0028t0002 | a0001c0001t0002g0137 a0011c0028t0002g0124 |
2 | 399 | 0.0050 | 49 | c.557 others(66): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090470 | C | CCCGCCCC others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0236 | 1 | 399 | 0.0025 | 49 | c.557 others(66): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METTL21A_chr2_207607739_207630394 | 207610974 | G | GTCAGCCC others(42): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG00741.hp1 others(20): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0013 a0002c0003t0001g0031 others(7): Show |
23 | 386 | 0.0596 | 49 | c.*20 others(60): Show |
METTL21A | ENSG00000144401.14 | transcript | ENST00000411432.6 | protein_coding | 1764 | chr2 | TogoVar | |||||||
METTL27_chr7_73829590_73847516 | 73836062 | A | ACCCCATC others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03239.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 a0001c0001t0002g0219 a0001c0001t0002g0220 |
3 | 372 | 0.0081 | 49 | c.479 others(66): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119343291 | A | ACTTGAGC others(42): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 318 | 0.0031 | 49 | c.112 others(66): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 9/14 | chr11 | TogoVar | |||||||
MGAM2_chr7_142106718_142227324 | 142121233 | G | GTGGCGCG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 329 | 0.0030 | 49 | c.186 others(64): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142067986 | A | AAAAATAT others(42): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0032 | a0032c0135 | a0032c0135t0001 | a0032c0135t0001g0150 | 1 | 316 | 0.0032 | 49 | c.500 others(66): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | chr7 | TogoVar | |||||||
MGA_chr15_41655405_41774940 | 41656344 | T | TCTCTCTC others(42): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 292 | 0.0034 | 49 | c.-42 others(60): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 4060 | chr15 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129618771 | T | TAATGCTA others(42): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0079 a0001c0001t0001g0100 a0001c0001t0001g0112 others(62): Show |
65 | 194 | 0.3351 | 49 | c.125 others(68): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MIA2_chr14_39228915_39355694 | 39285664 | A | ACCCCCCA others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0037 | a0037c0037 | a0037c0037t0001 | a0037c0037t0001g0257 | 1 | 368 | 0.0027 | 49 | c.213 others(68): Show |
MIA2 | ENSG00000150527.18 | transcript | ENST00000640607.2 | protein_coding | 9/28 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17899647 | C | CTGAGGCT others(42): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0006 | a0006c0026 | a0006c0026t0002 | a0006c0026t0002g0074 | 1 | 274 | 0.0037 | 49 | c.848 others(64): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 6/31 | chr22 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1444027 | T | TCCCCGCG others(42): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02818.hp1 |
a0002a0043 | a0002c0003a0043c0071 | a0002c0003t0002a0043c0071t0001 | a0002c0003t0002g0182 a0043c0071t0001g0164 |
2 | 280 | 0.0071 | 49 | c.141 others(66): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 6/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446247 | G | GGAGGGGG others(42): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0065 | a0065c0045 | a0065c0045t0002 | a0065c0045t0002g0155 | 1 | 280 | 0.0036 | 49 | c.641 others(64): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICA_chr6_31398595_31420315 | 31405682 | C | CCATTATT others(42): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 439 | 0.0023 | 49 | c.70+ others(64): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
MICU1_chr10_72362340_72631079 | 72535021 | T | TTTATTTT others(42): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
2 | 208 | 0.0096 | 49 | c.494 others(66): Show |
MICU1 | ENSG00000107745.20 | transcript | ENST00000361114.10 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79437806 | T | TGTGTGGA others(42): Show |
intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0001a0004 | a0001c0002a0004c0030 | a0001c0002t0021a0004c0030t0015 | a0001c0002t0021g0050 a0004c0030t0015g0051 |
2 | 390 | 0.0051 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438571 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438571 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438602 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0221 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438629 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0190 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438739 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0025 a0001c0006t0008g0255 |
3 | 390 | 0.0077 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438770 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0202 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438832 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0246 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79438894 | G | GGGTGGAT others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0014 | a0014c0032 | a0014c0032t0003 | a0014c0032t0003g0205 | 1 | 390 | 0.0026 | 49 | c.-51 others(66): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50073046 | C | CGCTCCCG others(42): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00733.hp2 others(12): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0120 a0001c0001t0002g0106 a0001c0001t0002g0114 others(11): Show |
15 | 212 | 0.0708 | 49 | c.714 others(66): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 8/11 | chr22 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543967 | G | GTGTGGGG others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0020 | 1 | 286 | 0.0035 | 49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544486 | G | GGGGACAG others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0130 | 1 | 286 | 0.0035 | 49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544523 | G | GGCACGGT others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02083.hp1 NA19067.hp2 |
a0002a0005 | a0002c0002a0005c0004 | a0002c0002t0001a0005c0004t0001 | a0002c0002t0001g0081 a0005c0004t0001g0008 a0005c0004t0001g0274 |
3 | 286 | 0.0105 | 49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544559 | G | GAGGACAG others(42): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02258.hp1 |
a0015 | a0015c0023 | a0015c0023t0003a0015c0023t0016 | a0015c0023t0003g0259 a0015c0023t0016g0104 |
2 | 286 | 0.0070 | 49 | c.153 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544857 | G | GGGGACAG others(42): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0009 | 1 | 286 | 0.0035 | 49 | c.154 others(68): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MOBP_chr3_39462680_39508027 | 39503367 | A | ATTCATTC others(42): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 400 | 0.0025 | 49 | c.*48 others(58): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 341 | chr3 | TogoVar | |||||||
MOGAT3_chr7_101190007_101206036 | 101198905 | A | ACAGAGTT others(42): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 438 | 0.0023 | 49 | c.289 others(63): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
MON2_chr12_62461826_62605476 | 62534551 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0056 | 1 | 368 | 0.0027 | 49 | c.163 others(66): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MORC1_chr3_108953248_109123134 | 109040403 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0293 | 1 | 294 | 0.0034 | 49 | c.133 others(68): Show |
MORC1 | ENSG00000114487.10 | transcript | ENST00000232603.10 | protein_coding | 14/27 | chr3 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2331983 | C | CCTGCGCC others(42): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02280.hp1 HG03225.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0004c0008t0002 | a0001c0001t0001g0002 a0001c0001t0002g0015 a0001c0001t0002g0022 others(1): Show |
4 | 80 | 0.0500 | 49 | c.125 others(68): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
MPDZ_chr9_13100707_13284692 | 13136325 | C | CTTTTTTT others(42): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088 | 1 | 302 | 0.0033 | 49 | c.429 others(66): Show |
MPDZ | ENSG00000107186.17 | transcript | ENST00000319217.12 | protein_coding | 30/46 | chr9 | TogoVar | |||||||
MPEG1_chr11_59203510_59217927 | 59217909 | G | GAAGGAGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02074.hp2 HG02258.hp2 others(12): Show |
a0001a0004a0008others(1): Show | a0001c0001a0004c0004a0008c0009others(1): Show | a0001c0001t0011a0004c0004t0006a0004c0004t0045others(3): Show | a0001c0001t0011g0000 a0004c0004t0006g0000 a0004c0004t0045g0000 others(3): Show |
15 | 418 | 0.0359 | 49 | c.-50 others(60): Show |
MPEG1 | ENSG00000197629.6 | transcript | ENST00000361050.4 | protein_coding | 4983 | chr11 | TogoVar | |||||||
MPEG1_chr11_59203510_59217927 | 59217919 | A | AGGAAGGA others(42): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01981.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028a0001c0001t0029 | a0001c0001t0001g0000 a0001c0001t0028g0000 a0001c0001t0029g0000 |
8 | 418 | 0.0191 | 49 | c.-50 others(60): Show |
MPEG1 | ENSG00000197629.6 | transcript | ENST00000361050.4 | protein_coding | 4993 | chr11 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432589 | G | GGGAGGAG others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0013 |
2 | 250 | 0.0080 | 49 | c.225 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432874 | A | AGAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 250 | 0.0040 | 49 | c.225 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500278 | C | CGGTGGTG others(42): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 250 | 0.0040 | 49 | c.748 others(66): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501705 | A | AGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 a0001c0001t0003g0062 |
2 | 256 | 0.0078 | 49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40501709 | C | CAGCTGGC others(42): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 256 | 0.0039 | 49 | c.242 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537221 | C | CCCGTCCG others(42): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 256 | 0.0039 | 49 | c.241 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537259 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01934.hp2 NA20300.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0074 a0001c0003t0001g0075 |
2 | 256 | 0.0078 | 49 | c.241 others(68): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar |