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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MATN4_chr20_45288450_45313299 | 45304364 | G | C | stop_gained | HIGH | HG01261.hp1 | a0011 | a0011c0017 | a0011c0017t0007 | a0011c0017t0007g0273 | 1 | 420 | 0.0024 | 0 | c.507 others(3): Show |
p.Tyr others(4): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 3/10 | 666/2222 | 507/1746 | 169/581 | chr20 | TogoVar | |||
MBD3L5_chr19_7025578_7038011 | 7032889 | G | AGATGAAG others(18253): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0031 | 1 | 64 | 0.0156 | 18260 | c.621 others(18267): Show |
p.Gly others(5): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2/2 | 656/778 | 622/627 | 208/208 | chr19 | TogoVar | |||
MBIP_chr14_36293564_36325637 | 36316699 | A | C | stop_gained | HIGH | NA18971.hp1 | a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0108 | 1 | 310 | 0.0032 | 0 | c.243 others(3): Show |
p.Tyr others(3): Show |
MBIP | ENSG00000151332.20 | transcript | ENST00000416007.9 | protein_coding | 2/9 | 292/1603 | 243/1035 | 81/344 | chr14 | TogoVar | |||
MBL2_chr10_52760380_52777784 | 52768256 | C | A | stop_gained | HIGH | HG01123.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 2 | 432 | 0.0046 | 0 | c.628 others(3): Show |
p.Glu others(4): Show |
MBL2 | ENSG00000165471.7 | transcript | ENST00000674931.1 | protein_coding | 5/5 | 685/3561 | 628/747 | 210/248 | chr10 | TogoVar | |||
MBLAC2_chr5_90453209_90479771 | 90474216 | G | T | stop_gained | HIGH | NA18962.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0050 | 1 | 376 | 0.0027 | 0 | c.77C others(2): Show |
p.Ser others(3): Show |
MBLAC2 | ENSG00000176055.10 | transcript | ENST00000316610.7 | protein_coding | 1/2 | 556/4277 | 77/840 | 26/279 | chr5 | TogoVar | |||
MBP_chr18_76973833_77137783 | 77017023 | C | A | stop_gained | HIGH | HG01975.hp1 | a0006 | a0006c0010 | a0006c0010t0019 | a0006c0010t0019g0287 | 1 | 394 | 0.0025 | 0 | c.385 others(3): Show |
p.Glu others(4): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 4/9 | 614/2738 | 385/915 | 129/304 | chr18 | TogoVar | |||
MBTPS1_chr16_84048763_84121942 | 84060770 | A | C | stop_gained | HIGH | NA18985.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0166 | 1 | 422 | 0.0024 | 0 | c.261 others(4): Show |
p.Tyr others(4): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 20/23 | 3148/4377 | 2616/3159 | 872/1052 | chr16 | TogoVar | |||
MC2R_chr18_13877044_13920536 | 13884766 | G | T | stop_gained | HIGH | NA18968.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0130 | 1 | 414 | 0.0024 | 0 | c.753 others(3): Show |
p.Cys others(4): Show |
MC2R | ENSG00000185231.5 | transcript | ENST00000327606.4 | protein_coding | 2/2 | 930/3652 | 753/894 | 251/297 | chr18 | TogoVar | |||
MCEMP1_chr19_7672090_7684829 | 7678514 | G | T | stop_gained | HIGH | NA19000.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0030 | 1 | 446 | 0.0022 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 5/7 | 389/1271 | 358/525 | 120/174 | chr19 | TogoVar | |||
MCEMP1_chr19_7672090_7684829 | 7678517 | G | T | stop_gained | HIGH | NA19000.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0030 | 1 | 446 | 0.0022 | 0 | c.361 others(3): Show |
p.Glu others(4): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 5/7 | 392/1271 | 361/525 | 121/174 | chr19 | TogoVar | |||
MCEMP1_chr19_7672090_7684829 | 7678983 | C | T | stop_gained others(1): Show |
HIGH | HG02970.hp2 | a0006 | a0006c0006 | a0006c0006t0015 | a0006c0006t0015g0004 | 1 | 446 | 0.0022 | 0 | c.508 others(3): Show |
p.Gln others(4): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 6/7 | 539/1271 | 508/525 | 170/174 | chr19 | TogoVar | |||
MCTP2_chr15_94226561_94488952 | 94345147 | C | T | stop_gained | HIGH | HG01192.hp1 | a0006 | a0006c0024 | a0006c0024t0013 | a0006c0024t0013g0111 | 1 | 274 | 0.0036 | 0 | c.988 others(3): Show |
p.Arg others(4): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/23 | 1157/7724 | 988/2637 | 330/878 | chr15 | TogoVar | |||
MCTP2_chr15_94226561_94488952 | 94384063 | C | T | stop_gained | HIGH | HG02165.hp1 | a0006 | a0006c0026 | a0006c0026t0002 | a0006c0026t0002g0181 | 1 | 274 | 0.0036 | 0 | c.162 others(4): Show |
p.Arg others(4): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 13/23 | 1793/7724 | 1624/2637 | 542/878 | chr15 | TogoVar | |||
ME1_chr6_83205402_83436051 | 83352114 | G | A | stop_gained | HIGH | HG03098.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0031 | 1 | 270 | 0.0037 | 0 | c.388 others(3): Show |
p.Arg others(4): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 4/14 | 485/3338 | 388/1719 | 130/572 | chr6 | TogoVar | |||
ME2_chr18_50874118_50959257 | 50918152 | C | T | stop_gained | HIGH | HG01261.hp1 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0292 | 1 | 339 | 0.0029 | 0 | c.673 others(3): Show |
p.Arg others(4): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 7/16 | 876/9031 | 673/1755 | 225/584 | chr18 | TogoVar | |||
MED12L_chr3_151080664_151441653 | 151365892 | C | A | stop_gained | HIGH | NA19077.hp2 | a0009 | a0009c0034 | a0009c0034t0001 | a0009c0034t0001g0198 | 1 | 278 | 0.0036 | 0 | c.322 others(4): Show |
p.Cys others(5): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 23/45 | 3630/10794 | 3228/6543 | 1076/2180 | chr3 | TogoVar | |||
MED15_chr22_20502610_20592619 | 20586669 | C | T | stop_gained | HIGH | NA19086.hp2 | a0015 | a0015c0015 | a0015c0015t0011 | a0015c0015t0011g0177 | 1 | 340 | 0.0029 | 0 | c.233 others(4): Show |
p.Gln others(4): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 18/18 | 2401/3351 | 2332/2367 | 778/788 | chr22 | TogoVar | |||
MED16_chr19_862963_898187 | 868240 | C | CCTTCAAC others(12): Show |
frameshift_variant others(1): Show |
HIGH | HG01099.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0037 | 1 | 54 | 0.0185 | 19 | c.248 others(30): Show |
p.Gly others(5): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 16/16 | 2614/2892 | 2494/2634 | 832/877 | chr19 | TogoVar | |||
MED8_chr1_43378917_43394800 | 43386607 | G | A | stop_gained | HIGH | NA20805.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0028 | 1 | 380 | 0.0026 | 0 | c.475 others(3): Show |
p.Arg others(4): Show |
MED8 | ENSG00000159479.17 | transcript | ENST00000372457.9 | protein_coding | 5/7 | 511/1968 | 475/807 | 159/268 | chr1 | TogoVar | |||
MEF2A_chr15_99560984_99721488 | 99712700 | C | T | stop_gained | HIGH | HG01261.hp2 | a0010 | a0010c0024 | a0010c0024t0021 | a0010c0024t0021g0114 | 1 | 374 | 0.0027 | 0 | c.144 others(4): Show |
p.Arg others(4): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1792/5580 | 1447/1518 | 483/505 | chr15 | TogoVar | |||
MEF2B_chr19_19140567_19175263 | 19147121 | A | T | stop_gained | HIGH | HG03831.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0197 | 1 | 402 | 0.0025 | 0 | c.456 others(3): Show |
p.Cys others(4): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 544/1425 | 456/1107 | 152/368 | chr19 | TogoVar | |||
MEIOC_chr17_44651468_44680801 | 44667867 | A | AGACAATA others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0153 | 1 | 350 | 0.0029 | 10 | c.195 others(19): Show |
p.Val others(5): Show |
MEIOC | ENSG00000180336.18 | transcript | ENST00000409122.7 | protein_coding | 5/8 | 2114/4610 | 1968/2859 | 656/952 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MELTF_chr3_196996740_197034817 | 197016354 | C | A | stop_gained | HIGH | HG01175.hp2 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0232 | 1 | 418 | 0.0024 | 0 | c.916 others(3): Show |
p.Glu others(4): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 8/16 | 1031/3964 | 916/2217 | 306/738 | chr3 | TogoVar | |||
MEP1B_chr18_32185039_32225404 | 32204187 | G | A | stop_gained | HIGH | HG01884.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0187 | 1 | 348 | 0.0029 | 0 | c.374 others(3): Show |
p.Trp others(4): Show |
MEP1B | ENSG00000141434.12 | transcript | ENST00000269202.11 | protein_coding | 7/15 | 406/2297 | 374/2106 | 125/701 | chr18 | TogoVar | |||
METTL18_chr1_169787529_169799907 | 169793350 | T | A | stop_gained | HIGH | HG01167.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0019 | 1 | 452 | 0.0022 | 0 | c.346 others(3): Show |
p.Lys others(4): Show |
METTL18 | ENSG00000171806.12 | transcript | ENST00000310392.5 | protein_coding | 2/2 | 641/1462 | 346/1119 | 116/372 | chr1 | TogoVar | |||
METTL22_chr16_8616698_8654654 | 8635225 | C | T | stop_gained | HIGH | HG04199.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0127 | 1 | 388 | 0.0026 | 0 | c.613 others(3): Show |
p.Arg others(4): Show |
METTL22 | ENSG00000067365.15 | transcript | ENST00000381920.8 | protein_coding | 5/11 | 861/4974 | 613/1215 | 205/404 | chr16 | TogoVar | |||
METTL27_chr7_73829590_73847516 | 73834763 | G | A | stop_gained | HIGH | HG00673.hp1 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0114 | 1 | 370 | 0.0027 | 0 | c.718 others(3): Show |
p.Arg others(4): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 6/6 | 749/922 | 718/738 | 240/245 | chr7 | TogoVar | |||
METTL8_chr2_171310746_171438990 | 171324261 | G | A | stop_gained | HIGH | NA19043.hp1 | a0009 | a0009c0010 | a0009c0010t0032 | a0009c0010t0032g0052 | 1 | 330 | 0.0030 | 0 | c.113 others(4): Show |
p.Arg others(4): Show |
METTL8 | ENSG00000123600.21 | transcript | ENST00000375258.9 | protein_coding | 10/10 | 1255/9770 | 1135/1224 | 379/407 | chr2 | TogoVar | |||
MFGE8_chr15_88893683_88918379 | 88909773 | AGCACCCC others(92): Show |
A | stop_gained others(4): Show |
HIGH | HG01934.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0215 | 1 | 434 | 0.0023 | -99 | c.125 others(109): Show |
p.Ser others(17): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 125/1164 | 42/387 | chr15 | TogoVar | ||||
MFGE8_chr15_88893683_88918379 | 88909876 | T | TAAAAAAA others(101): Show |
stop_gained others(1): Show |
HIGH | HG01934.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0215 | 1 | 434 | 0.0023 | 108 | c.120 others(115): Show |
p.Glu others(119): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 180/1936 | 120/1164 | 40/387 | chr15 | TogoVar | |||
MFGE8_chr15_88893683_88918379 | 88909879 | C | A | stop_gained | HIGH | HG01934.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0215 | 1 | 434 | 0.0023 | 0 | c.118 others(3): Show |
p.Glu others(3): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 178/1936 | 118/1164 | 40/387 | chr15 | TogoVar | |||
MFSD3_chr8_144504070_144516213 | 144510655 | T | A | stop_gained | HIGH | NA18977.hp2 NA19068.hp2 NA19087.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 3 | 398 | 0.0075 | 0 | c.888 others(3): Show |
p.Cys others(4): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 3/5 | 1152/1552 | 888/1239 | 296/412 | chr8 | TogoVar | |||
MFSD3_chr8_144504070_144516213 | 144510832 | G | T | stop_gained | HIGH | NA18976.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0001 | 1 | 398 | 0.0025 | 0 | c.994 others(3): Show |
p.Gly others(4): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 4/5 | 1258/1552 | 994/1239 | 332/412 | chr8 | TogoVar | |||
MFSD4B_chr6_111254339_111285005 | 111266107 | T | A | stop_gained | HIGH | HG02738.hp1 NA20752.hp1 |
a0003 | a0003c0007 | a0003c0007t0001a0003c0007t0012 | a0003c0007t0001g0001 a0003c0007t0012g0010 |
2 | 362 | 0.0055 | 0 | c.545 others(3): Show |
p.Leu others(4): Show |
MFSD4B | ENSG00000173214.7 | transcript | ENST00000671876.2 | protein_coding | 4/4 | 907/14805 | 545/1557 | 182/518 | chr6 | TogoVar | |||
MFSD9_chr2_102709630_102741888 | 102726966 | C | T | stop_gained | HIGH | HG00099.hp2 HG02602.hp2 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0029 | 2 | 384 | 0.0052 | 0 | c.306 others(3): Show |
p.Trp others(4): Show |
MFSD9 | ENSG00000135953.11 | transcript | ENST00000258436.10 | protein_coding | 4/6 | 384/5293 | 306/1425 | 102/474 | chr2 | TogoVar | |||
MGAM2_chr7_142106718_142227324 | 142196179 | C | T | stop_gained | HIGH | HG01255.hp2 | a0031 | a0031c0051 | a0031c0051t0001 | a0031c0051t0001g0317 | 1 | 328 | 0.0030 | 0 | c.437 others(4): Show |
p.Arg others(5): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 38/48 | 4462/7903 | 4372/7548 | 1458/2515 | chr7 | TogoVar | |||
MGAT4D_chr4_140437262_140503293 | 140456640 | C | T | stop_gained | HIGH | NA18999.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0186 | 1 | 330 | 0.0030 | 0 | c.957 others(3): Show |
p.Trp others(4): Show |
MGAT4D | ENSG00000205301.12 | transcript | ENST00000511113.6 | protein_coding | 9/11 | 1028/2370 | 957/1125 | 319/374 | chr4 | TogoVar | |||
MGRN1_chr16_4619826_4695972 | 4657307 | C | T | stop_gained | HIGH | NA18977.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0168 | 1 | 332 | 0.0030 | 0 | c.505 others(3): Show |
p.Gln others(4): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 5/17 | 640/3930 | 505/1731 | 169/576 | chr16 | TogoVar | |||
MICAL1_chr6_109439062_109460772 | 109449722 | G | A | stop_gained | HIGH | NA19084.hp2 | a0008 | a0008c0032 | a0008c0032t0001 | a0008c0032t0001g0111 | 1 | 432 | 0.0023 | 0 | c.136 others(4): Show |
p.Gln others(4): Show |
MICAL1 | ENSG00000135596.18 | transcript | ENST00000358807.8 | protein_coding | 10/25 | 1466/3430 | 1369/3204 | 457/1067 | chr6 | TogoVar | |||
MICAL1_chr6_109439062_109460772 | 109454106 | G | A | stop_gained | HIGH | NA18950.hp1 | a0008 | a0008c0033 | a0008c0033t0001 | a0008c0033t0001g0082 | 1 | 432 | 0.0023 | 0 | c.91C others(2): Show |
p.Gln others(3): Show |
MICAL1 | ENSG00000135596.18 | transcript | ENST00000358807.8 | protein_coding | 2/25 | 188/3430 | 91/3204 | 31/1067 | chr6 | TogoVar | |||
MICB_chr6_31493145_31516124 | 31505636 | C | A | stop_gained | HIGH | NA19077.hp1 | a0010 | a0010c0016 | a0010c0016t0006 | a0010c0016t0006g0166 | 1 | 458 | 0.0022 | 0 | c.90C others(2): Show |
p.Tyr others(3): Show |
MICB | ENSG00000204516.10 | transcript | ENST00000252229.7 | protein_coding | 2/6 | 139/2416 | 90/1152 | 30/383 | chr6 | TogoVar | |||
MICB_chr6_31493145_31516124 | 31506394 | C | T | stop_gained | HIGH | HG00673.hp2 HG01167.hp2 HG02056.hp2 others(6): Show |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0030 a0006c0007t0002g0084 a0006c0007t0002g0085 others(4): Show |
9 | 458 | 0.0197 | 0 | c.577 others(3): Show |
p.Arg others(4): Show |
MICB | ENSG00000204516.10 | transcript | ENST00000252229.7 | protein_coding | 3/6 | 626/2416 | 577/1152 | 193/383 | chr6 | TogoVar | |||
MICU2_chr13_21487691_21609170 | 21502943 | T | A | stop_gained | HIGH | HG01070.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0006 | 1 | 314 | 0.0032 | 0 | c.916 others(3): Show |
p.Lys others(4): Show |
MICU2 | ENSG00000165487.14 | transcript | ENST00000382374.9 | protein_coding | 9/12 | 938/1885 | 916/1305 | 306/434 | chr13 | TogoVar | |||
MIIP_chr1_12014498_12037045 | 12022138 | C | A | stop_gained | HIGH | HG03209.hp2 | a0020 | a0020c0012 | a0020c0012t0001 | a0020c0012t0001g0023 | 1 | 412 | 0.0024 | 0 | c.158 others(3): Show |
p.Ser others(3): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 3/10 | 295/1541 | 158/1167 | 53/388 | chr1 | TogoVar | |||
MILR1_chr17_64444115_64473643 | 64452815 | C | T | stop_gained | HIGH | HG01123.hp1 HG01257.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 2 | 392 | 0.0051 | 0 | c.316 others(3): Show |
p.Gln others(4): Show |
MILR1 | ENSG00000271605.6 | transcript | ENST00000619286.5 | protein_coding | 3/10 | 370/1448 | 316/1032 | 106/343 | chr17 | TogoVar | |||
MINDY4B_chr3_150865376_150910439 | 150871091 | C | T | stop_gained | HIGH | HG01891.hp2 HG02895.hp2 HG02897.hp2 |
a0008a0009 | a0008c0007a0009c0011 | a0008c0007t0005a0009c0011t0005 | a0008c0007t0005g0005 a0009c0011t0005g0022 |
3 | 430 | 0.0070 | 0 | c.133 others(4): Show |
p.Trp others(4): Show |
MINDY4B | ENSG00000214237.11 | transcript | ENST00000465419.7 | protein_coding | 12/12 | 1337/2052 | 1337/1383 | 446/460 | chr3 | TogoVar | |||
MINDY4B_chr3_150865376_150910439 | 150871131 | G | A | stop_gained | HIGH | NA19084.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0137 | 1 | 430 | 0.0023 | 0 | c.129 others(4): Show |
p.Arg others(4): Show |
MINDY4B | ENSG00000214237.11 | transcript | ENST00000465419.7 | protein_coding | 12/12 | 1297/2052 | 1297/1383 | 433/460 | chr3 | TogoVar | |||
MKRN1_chr7_140448033_140484505 | 140479304 | G | T | stop_gained | HIGH | NA18985.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0052 | 1 | 432 | 0.0023 | 0 | c.41C others(2): Show |
p.Ser others(3): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/8 | 202/3094 | 41/1449 | 14/482 | chr7 | TogoVar | |||
MLF1_chr3_158566194_158611456 | 158602923 | C | T | stop_gained | HIGH | HG02074.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0091 | 1 | 378 | 0.0026 | 0 | c.730 others(3): Show |
p.Arg others(4): Show |
MLF1 | ENSG00000178053.21 | transcript | ENST00000466246.7 | protein_coding | 7/8 | 837/2213 | 730/852 | 244/283 | chr3 | TogoVar | |||
MLH3_chr14_75008775_75056467 | 75047993 | T | A | stop_gained | HIGH | NA19075.hp2 | a0019 | a0019c0025 | a0019c0025t0008 | a0019c0025t0008g0212 | 1 | 260 | 0.0038 | 0 | c.166 others(4): Show |
p.Lys others(4): Show |
MLH3 | ENSG00000119684.16 | transcript | ENST00000355774.7 | protein_coding | 2/13 | 1814/7820 | 1663/4362 | 555/1453 | chr14 | TogoVar |