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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
L1CAM_chrX_153856516_153891173 | 153865370 | AG | A | frameshift_variant | HIGH | NA18985.hp1 | a0013 | a0013c0023 | a0013c0023t0006 | a0013c0023t0006g0082 | 1 | 283 | 0.0035 | -1 | c.267 others(5): Show |
p.Leu others(5): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 21/29 | 2894/5138 | 2677/3774 | 893/1257 | chrX | TogoVar | ||
LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0005a0006 | a0002c0002a0005c0006a0006c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002a0002c0002t0002g0017a0002c0002t0002g0051others(12): Show | 86 | 392 | 0.2194 | 0 | c.481 others(3): Show |
p.Gln others(4): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 5/6 | 518/1995 | 481/603 | 161/200 | chr9 | TogoVar | ||
LIG1_chr19_48110445_48175344 | 48115647 | GCTTAGTA others(56): Show |
G | stop_lost others(1): Show |
HIGH | NA18985.hp1 | a0000 | a0000c0013 | a0000c0013t0007 | a0000c0013t0007g0182 | 1 | 330 | 0.0030 | -63 | c.269 others(70): Show |
p.Gln others(19): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 2922/3125 | 2699/2760 | 900/919 | chr19 | TogoVar | ||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LMTK3_chr19_48480271_48516835 | 48497366 | CCTGACTG others(18): Show |
C | splice_donor_variant others(2): Show |
HIGH | NA18985.hp2 | a0006 | a0006c0025 | a0006c0025t0001 | a0006c0025t0001g0072 | 1 | 314 | 0.0032 | -25 | c.367 others(39): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/14 | chr19 | TogoVar | ||||||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | ||
LOC122455342_chr17_76563797_76574648 | 76569083 | T | TG | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0000a0002c0004t0000 | a0002c0003t0000g0000a0002c0004t0000g0000 | 21 | 440 | 0.0477 | 1 | c.565 others(4): Show |
p.His others(5): Show |
LOC122455342 | ENSG00000284526.3 | transcript | ENST00000713548.1 | protein_coding | 1/1 | 565/852 | 565/852 | 189/283 | chr17 | TogoVar | ||
LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0013 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0070a0003c0004t0001g0076a0003c0004t0001g0077others(20): Show | 23 | 316 | 0.0728 | 1 | c.449 others(4): Show |
p.Thr others(5): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 2/28 | 849/4833 | 449/3912 | 150/1303 | chr11 | TogoVar | ||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEB2_chrX_30210563_30225089 | 30219450 | G | GT | frameshift_variant | HIGH | NA18985.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0037 | 1 | 320 | 0.0031 | 1 | c.875 others(4): Show |
p.Leu others(5): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 2/2 | 974/1607 | 876/960 | 292/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE1_chrX_76422710_76436342 | 76428905 | T | TG | frameshift_variant | HIGH | NA18985.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0000 | 1 | 292 | 0.0034 | 1 | c.980 others(4): Show |
p.Leu others(5): Show |
MAGEE1 | ENSG00000198934.5 | transcript | ENST00000361470.4 | protein_coding | 1/1 | 1202/3633 | 981/2874 | 327/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | ||
MALT1_chr18_58666465_58759477 | 58696337 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0183a0001c0001t0001g0186a0001c0001t0002g0293others(46): Show | 49 | 406 | 0.1207 | 1 | c.377 others(6): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MAOB_chrX_43761610_43887450 | 43802209 | T | TC | frameshift_variant | HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.438 others(4): Show |
p.Thr others(5): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 5/15 | 589/2570 | 438/1563 | 146/520 | chrX | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43802232 | A | AG | frameshift_variant | HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.415 others(4): Show |
p.Leu others(5): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 5/15 | 566/2570 | 415/1563 | 139/520 | chrX | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43838868 | C | CT | frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.278 others(4): Show |
p.Lys others(4): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 3/15 | 429/2570 | 278/1563 | 93/520 | chrX | TogoVar | ||
MBD5_chr2_148016091_148521971 | 148490109 | CTAGAGGA others(3): Show |
C | frameshift_variant | HIGH | NA18985.hp2 | a0007 | a0007c0011 | a0007c0011t0005 | a0007c0011t0005g0057 | 1 | 188 | 0.0053 | -10 | c.447 others(19): Show |
p.Glu others(6): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 11/14 | 5997/10732 | 4479/5184 | 1493/1727 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
MBTPS1_chr16_84048763_84121942 | 84060770 | A | C | stop_gained | HIGH | NA18985.hp2 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0177 | 1 | 424 | 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 | ||
MCF2_chrX_139576770_139713167 | 139587771 | G | GGT | frameshift_variant | HIGH | NA18985.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0026 | 1 | 249 | 0.0040 | 2 | c.269 others(11): Show |
p.Gln others(5): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 26/29 | 2800/3813 | 2694/3006 | 898/1001 | chrX | TogoVar | ||
MCF2_chrX_139576770_139713167 | 139587779 | C | CT | frameshift_variant | HIGH | NA18985.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0026 | 1 | 249 | 0.0040 | 1 | c.268 others(5): Show |
p.Arg others(5): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 26/29 | 2792/3813 | 2686/3006 | 896/1001 | chrX | TogoVar | ||
MCTS1_chrX_120599101_120626159 | 120608280 | C | CA | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0027 | 1 | 316 | 0.0032 | 1 | c.319 others(4): Show |
p.Ser others(5): Show |
MCTS1 | ENSG00000232119.8 | transcript | ENST00000371317.10 | protein_coding | 4/6 | 456/9577 | 320/546 | 107/181 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MCTS1_chrX_120599101_120626159 | 120612204 | T | TG | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0027 | 1 | 316 | 0.0032 | 1 | c.488 others(4): Show |
p.Ile others(5): Show |
MCTS1 | ENSG00000232119.8 | transcript | ENST00000371317.10 | protein_coding | 6/6 | 625/9577 | 489/546 | 163/181 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MEIOSIN_chr19_45728439_45769541 | 45764100 | G | GC | frameshift_variant | HIGH | HG00738.hp1 HG01099.hp2 HG01255.hp2 others(9): Show |
a0000 | a0000c0007a0000c0008a0000c0018others(1): Show | a0000c0007t0001a0000c0007t0002a0000c0008t0003others(2): Show | a0000c0007t0001g0006a0000c0007t0001g0100a0000c0007t0001g0177others(9): Show | 12 | 360 | 0.0333 | 1 | c.190 others(5): Show |
p.His others(5): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 15/15 | 2133/2568 | 1905/1917 | 635/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
METTL9_chr16_21594577_21662471 | 21612623 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0126a0001c0001t0001g0139others(25): Show | 35 | 364 | 0.0962 | 1 | c.166 others(6): Show |
METTL9 | ENSG00000197006.15 | transcript | ENST00000358154.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(2): Show | a0000c0008t0004a0000c0009t0005a0000c0012t0004others(2): Show | a0000c0008t0004g0008a0000c0008t0004g0067a0000c0008t0004g0068others(21): Show | 46 | 439 | 0.1048 | -4 | c.953 others(11): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | ||
MIIP_chr1_12014498_12037045 | 12029821 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG02055.hp2 others(8): Show |
a0008a0009a0010 | a0008c0007a0009c0010a0010c0011 | a0008c0007t0001a0008c0007t0006a0009c0010t0001others(1): Show | a0008c0007t0001g0001a0008c0007t0001g0003a0008c0007t0001g0010others(8): Show | 11 | 414 | 0.0266 | 1 | c.777 others(4): Show |
p.Cys others(5): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 7/10 | 915/1541 | 778/1167 | 260/388 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
MKRN1_chr7_140448033_140484505 | 140479295 | C | CCCCACAG others(3): Show |
frameshift_variant | HIGH | NA18985.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0031 | 1 | 434 | 0.0023 | 10 | c.49_ others(15): Show |
p.Gly others(4): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/8 | 210/3094 | 49/1449 | 17/482 | chr7 | TogoVar | ||
MKRN1_chr7_140448033_140484505 | 140479304 | G | T | stop_gained | HIGH | NA18985.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0031 | 1 | 434 | 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 | ||
MKRN1_chr7_140448033_140484505 | 140479344 | T | C | start_lost | HIGH | NA18985.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0031 | 1 | 434 | 0.0023 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
MKRN1 | ENSG00000133606.11 | transcript | ENST00000255977.7 | protein_coding | 1/8 | 162/3094 | 1/1449 | 1/482 | chr7 | TogoVar | ||
MROH6_chr8_143561192_143577772 | 143571685 | C | CG | frameshift_variant | HIGH | HG01255.hp1 HG01255.hp2 HG02257.hp1 others(5): Show |
a0006a0009 | a0006c0010a0006c0025a0009c0016others(1): Show | a0006c0010t0001a0006c0010t0017a0006c0025t0020others(3): Show | a0006c0010t0001g0082a0006c0010t0001g0083a0006c0010t0001g0084others(5): Show | 8 | 437 | 0.0183 | 1 | c.583 others(4): Show |
p.Arg others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3/14 | 641/3265 | 583/2160 | 195/719 | chr8 | TogoVar | ||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195779931 | T | TGTGGATG others(42): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0135 | a0135c0103 | a0135c0103t0001 | a0135c0103t0001g0111 | 1 | 249 | 0.0040 | 49 | c.116 others(60): Show |
p.Asp others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 11760/16756 | 11648/16239 | 3883/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195788228 | T | TGTGACCT others(3690): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0112 | a0112c0046 | a0112c0046t0001 | a0112c0046t0001g0175 | 1 | 249 | 0.0040 | 3697 | c.335 others(3706): Show |
p.Thr others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3463/16756 | 3351/16239 | 1117/5412 | chr3 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(9279): Show |
frameshift_variant | HIGH | NA18985.hp2 | a0161 | a0161c0170 | a0161c0170t0001 | a0161c0170t0001g0260 | 1 | 406 | 0.0025 | 9286 | c.481 others(9295): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUTYH_chr1_45324242_45344970 | 45332088 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 NA18968.hp1 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(2): Show | 5 | 402 | 0.0124 | 0 | c.850 others(5): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000456914.7 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
MUTYH_chr1_45324242_45345440 | 45332088 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 NA18968.hp1 NA18985.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0110others(2): Show | 5 | 404 | 0.0124 | 0 | c.934 others(5): Show |
MUTYH | ENSG00000132781.21 | transcript | ENST00000710952.2 | protein_coding | 10/15 | chr1 | TogoVar | ||||||
MYO7A_chr11_77123246_77220241 | 77179796 | A | AC | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show |
a0005a0008a0015others(1): Show | a0005c0008a0005c0017a0005c0026others(35): Show | a0005c0008t0001a0005c0017t0001a0005c0026t0001others(35): Show | a0005c0008t0001g0006a0005c0008t0001g0031a0005c0008t0001g0050others(51): Show | 54 | 356 | 0.1517 | 1 | c.243 others(5): Show |
p.Arg others(5): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 21/49 | 2722/7483 | 2432/6648 | 811/2215 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
NACA2_chr17_61585421_61596219 | 61590592 | G | A | stop_gained | HIGH | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(51): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0007c0007t0001 | a0002c0002t0001g0000a0007c0007t0001g0000 | 54 | 400 | 0.1350 | 0 | c.589 others(3): Show |
p.Arg others(4): Show |
NACA2 | ENSG00000253506.3 | transcript | ENST00000521764.3 | protein_coding | 1/1 | 628/799 | 589/648 | 197/215 | chr17 | TogoVar | ||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(35): Show |
a0005a0010a0021others(26): Show | a0005c0004a0010c0007a0021c0022others(26): Show | a0005c0004t0001a0005c0004t0025a0010c0007t0001others(27): Show | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132others(34): Show | 38 | 276 | 0.1377 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0002 | a0002c0001a0002c0009a0002c0013others(7): Show | a0002c0001t0001a0002c0001t0009a0002c0001t0010others(21): Show | a0002c0001t0001g0005a0002c0001t0001g0119a0002c0001t0001g0121others(71): Show | 75 | 292 | 0.2569 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(64): Show | 70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NF1_chr17_31089977_31382675 | 31095311 | T | G | start_lost | HIGH | NA18985.hp1 | a0008 | a0008c0014 | a0008c0014t0029 | a0008c0014t0029g0252 | 1 | 252 | 0.0040 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/58 | 335/12373 | 2/8520 | 1/2839 | chr17 | TogoVar | ||
NF1_chr17_31089977_31382675 | 31095312 | G | A | start_lost | HIGH | NA18985.hp1 | a0008 | a0008c0014 | a0008c0014t0029 | a0008c0014t0029g0252 | 1 | 252 | 0.0040 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 1/58 | 336/12373 | 3/8520 | 1/2839 | chr17 | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100843958 | A | AT | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.168 others(5): Show |
p.Asn others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1908/2543 | 1688/1695 | 563/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100844032 | T | TC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.161 others(5): Show |
p.Ser others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1834/2543 | 1614/1695 | 538/564 | chrX | TogoVar | ||
NOX1_chrX_100838324_100879359 | 100844044 | T | TC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0287 | 1 | 302 | 0.0033 | 1 | c.160 others(5): Show |
p.Thr others(5): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 13/13 | 1822/2543 | 1602/1695 | 534/564 | chrX | TogoVar |