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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAGEE2_chrX_75777987_75790254 | 75784478 | TC | T | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | -1 | c.573 others(4): Show |
p.Asn others(5): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 776/2268 | 573/1572 | 191/523 | 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 | ||
MAGEE2_chrX_75777987_75790254 | 75784700 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.351 others(4): Show |
p.Leu others(5): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 554/2268 | 351/1572 | 117/523 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784777 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.274 others(4): Show |
p.Ser others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 477/2268 | 274/1572 | 92/523 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75785003 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.48_ others(6): Show |
p.Ala others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 251/2268 | 48/1572 | 16/523 | chrX | TogoVar | ||
MAGT1_chrX_77820747_77900435 | 77856755 | GT | G | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0209 | 1 | 260 | 0.0039 | -1 | c.649 others(4): Show |
p.Thr others(5): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 5/10 | 674/4506 | 649/1008 | 217/335 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20010951 | CG | C | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | -1 | c.217 others(5): Show |
p.Arg others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 16/17 | 2201/4062 | 2173/2322 | 725/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025005 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.135 others(5): Show |
p.Arg others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 10/17 | 1385/4062 | 1357/2322 | 453/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025699 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.126 others(5): Show |
p.Lys others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1288/4062 | 1260/2322 | 420/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025854 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.110 others(5): Show |
p.Asp others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1133/4062 | 1105/2322 | 369/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025866 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.109 others(5): Show |
p.Leu others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1121/4062 | 1093/2322 | 365/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025951 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.100 others(5): Show |
p.Thr others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1036/4062 | 1008/2322 | 336/773 | chrX | TogoVar | ||
MBOAT7_chr19_54168415_54194580 | 54181115 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG00741.hp1 HG00741.hp2 others(30): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(6): Show | a0002c0003t0001g0012a0002c0003t0001g0024a0002c0003t0001g0025others(30): Show | 33 | 373 | 0.0885 | 1 | c.511 others(4): Show |
p.Arg others(5): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 6/8 | 757/2294 | 511/1419 | 171/472 | chr19 | TogoVar | ||
MED12_chrX_71113596_71147450 | 71119710 | A | AT | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.231 others(4): Show |
p.Ala others(4): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 3/45 | 391/6925 | 232/6534 | 78/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71121023 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.607 others(4): Show |
p.Glu others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 5/45 | 767/6925 | 608/6534 | 203/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71121062 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | -1 | c.647 others(4): Show |
p.Gly others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 5/45 | 806/6925 | 647/6534 | 216/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71121123 | AC | A | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | -1 | c.708 others(4): Show |
p.Glu others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 5/45 | 867/6925 | 708/6534 | 236/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71121577 | G | GT | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.864 others(4): Show |
p.Gln others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 7/45 | 1024/6925 | 865/6534 | 289/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71122200 | A | AC | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.110 others(5): Show |
p.Ile others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 8/45 | 1264/6925 | 1105/6534 | 369/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71122209 | CT | C | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | -1 | c.111 others(5): Show |
p.Leu others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 8/45 | 1271/6925 | 1112/6534 | 371/2177 | chrX | TogoVar | ||
MED12_chrX_71113596_71147450 | 71122245 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.114 others(5): Show |
p.Thr others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 8/45 | 1308/6925 | 1149/6534 | 383/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71122250 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | 1 | c.115 others(5): Show |
p.Asp others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 8/45 | 1313/6925 | 1154/6534 | 385/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MED12_chrX_71113596_71147450 | 71122296 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0013 | a0013c0025 | a0013c0025t0001 | a0013c0025t0001g0036 | 1 | 273 | 0.0037 | -1 | c.120 others(5): Show |
p.Pro others(5): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 8/45 | 1361/6925 | 1202/6534 | 401/2177 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MEGF10_chr5_127285796_127466222 | 127420127 | G | GAGGAAAA others(28): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0030 | a0007c0030t0005 | a0007c0030t0005g0085 | 1 | 268 | 0.0037 | 35 | c.151 others(44): Show |
p.Gly others(5): Show |
MEGF10 | ENSG00000145794.17 | transcript | ENST00000503335.7 | protein_coding | 12/25 | 1790/7606 | 1511/3423 | 504/1140 | chr5 | TogoVar | ||
MESP2_chr15_89771332_89783754 | 89776909 | GGGGCAGG others(16): Show |
G | frameshift_variant | HIGH | NA19076.hp2 | a0013 | a0013c0023 | a0013c0023t0001 | a0013c0023t0001g0001 | 1 | 394 | 0.0025 | -23 | c.556 others(30): Show |
p.Gln others(5): Show |
MESP2 | ENSG00000188095.6 | transcript | ENST00000341735.5 | protein_coding | 1/2 | 582/1640 | 556/1194 | 186/397 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
MGAM_chr7_141990879_142111747 | 142008706 | G | T | splice_donor_variant others(1): Show |
HIGH | NA19076.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0230 | 1 | 316 | 0.0032 | 0 | c.327 others(5): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 3/70 | chr7 | TogoVar | ||||||
MIB2_chr1_1610500_1635605 | 1623855 | T | TGGACTAC others(22): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0061 | 1 | 412 | 0.0024 | 29 | c.330 others(36): Show |
p.Met others(5): Show |
MIB2 | ENSG00000197530.13 | transcript | ENST00000355826.10 | protein_coding | 4/20 | 622/3206 | 359/2868 | 120/955 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0002a0006a0009others(8): Show | a0002c0004a0002c0027a0002c0029others(17): Show | a0002c0004t0002a0002c0027t0002a0002c0029t0002others(17): Show | a0002c0004t0002g0002a0002c0004t0002g0004a0002c0004t0002g0011others(89): Show | 98 | 396 | 0.2475 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | TogoVar | ||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | 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 | ||
MSN_chrX_65662654_65746931 | 65735399 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | 1 | c.931 others(4): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 8/13 | 1120/3960 | 932/1734 | 311/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MSN_chrX_65662654_65746931 | 65736803 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | -1 | c.970 others(4): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1158/3960 | 970/1734 | 324/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MSN_chrX_65662654_65746931 | 65736856 | GA | G | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | -1 | c.102 others(5): Show |
p.Glu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1211/3960 | 1023/1734 | 341/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MSN_chrX_65662654_65746931 | 65736885 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 170 | 0.0059 | 1 | c.105 others(5): Show |
p.Leu others(5): Show |
MSN | ENSG00000147065.18 | transcript | ENST00000360270.7 | protein_coding | 9/13 | 1240/3960 | 1052/1734 | 351/577 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MTCH1_chr6_36963141_36991196 | 36986143 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG04115.hp1 NA18747.hp2 others(13): Show |
a0002 | a0002c0004a0002c0008 | a0002c0004t0001a0002c0008t0001 | a0002c0004t0001g0008a0002c0004t0001g0039a0002c0004t0001g0180others(3): Show | 16 | 414 | 0.0387 | -1 | c.30d others(3): Show |
p.Trp others(4): Show |
MTCH1 | ENSG00000137409.21 | transcript | ENST00000373627.10 | protein_coding | 1/12 | 53/1955 | 30/1170 | 10/389 | chr6 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10960): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0131 | a0131c0120 | a0131c0120t0001 | a0131c0120t0001g0126 | 1 | 406 | 0.0025 | 10967 | c.481 others(10976): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(8776): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp2 | a0071 | a0071c0100 | a0071c0100t0002 | a0071c0100t0002g0254 | 1 | 406 | 0.0025 | 8783 | c.481 others(8792): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
NALF2_chrX_69499326_69537508 | 69505490 | CG | C | frameshift_variant | HIGH | NA19076.hp1 | a0015 | a0015c0010 | a0015c0010t0028 | a0015c0010t0028g0149 | 1 | 322 | 0.0031 | -1 | c.211 others(4): Show |
p.Ala others(4): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1168/4928 | 211/1419 | 71/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505555 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0015 | a0015c0010 | a0015c0010t0028 | a0015c0010t0028g0149 | 1 | 322 | 0.0031 | 1 | c.275 others(4): Show |
p.Pro others(4): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1233/4928 | 276/1419 | 92/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NALF2_chrX_69499326_69537508 | 69505805 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0015 | a0015c0010 | a0015c0010t0028 | a0015c0010t0028g0149 | 1 | 322 | 0.0031 | 1 | c.527 others(4): Show |
p.Ala others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1485/4928 | 528/1419 | 176/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NAP1L4_chr11_2939437_2997329 | 2964706 | T | TCACTTTA others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0119 | 1 | 335 | 0.0030 | 10 | c.570 others(17): Show |
p.Lys others(5): Show |
NAP1L4 | ENSG00000205531.14 | transcript | ENST00000380542.9 | protein_coding | 8/16 | 672/2463 | 579/1128 | 193/375 | chr11 | TogoVar | ||
NBEAL2_chr3_46974666_47014701 | 46997009 | G | GCCTGACG others(24): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0014 | a0014c0022 | a0014c0022t0003 | a0014c0022t0003g0016 | 1 | 360 | 0.0028 | 31 | c.261 others(40): Show |
p.Val others(5): Show |
NBEAL2 | ENSG00000160796.18 | transcript | ENST00000450053.8 | protein_coding | 18/54 | 2840/8842 | 2644/8265 | 882/2754 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
NPIPB11_chr16_29376310_29411711 | 29382084 | GGGGAGTG others(118): Show |
G | frameshift_variant | HIGH | NA19076.hp1 | a0071 | a0071c0096 | a0071c0096t0027 | a0071c0096t0027g0316 | 1 | 428 | 0.0023 | -125 | c.272 others(9): Show |
p.Leu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5594/6369 | 2723/3486 | 908/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0009others(29): Show | a0002c0003a0002c0022a0002c0054others(38): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(48): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(140): Show | 145 | 428 | 0.3388 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0009a0026others(12): Show | a0002c0003a0002c0022a0002c0054others(18): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(23): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(69): Show | 72 | 428 | 0.1682 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar | ||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
NYAP1_chr7_100478927_100499802 | 100488620 | ACCGCCGC others(33): Show |
A | frameshift_variant | HIGH | NA19076.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0003 | 1 | 366 | 0.0027 | -40 | c.900 others(47): Show |
p.His others(5): Show |
NYAP1 | ENSG00000166924.9 | transcript | ENST00000300179.7 | protein_coding | 4/7 | 1059/3584 | 900/2526 | 300/841 | chr7 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar |