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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GCSAML_chr1_247544134_247582690 | 247556467 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01074.hp2 HG01123.hp2 HG01361.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0212others(10): Show | 22 | 412 | 0.0534 | 0 | c.89+ others(4): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042a0003c0003t0001g0055a0003c0003t0001g0073others(79): Show | 84 | 350 | 0.2400 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | ||
GIPR_chr19_45663221_45688722 | 45669468 | ACCCTCCA others(3): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0108 | 1 | 416 | 0.0024 | -10 | c.-44 others(19): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 2/14 | 42 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843096 | CTCCCCCA others(15): Show |
C | frameshift_variant | HIGH | NA18965.hp2 | a0047 | a0047c0026 | a0047c0026t0002 | a0047c0026t0002g0078 | 1 | 422 | 0.0024 | -22 | c.986 others(30): Show |
p.Lys others(5): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1102/2367 | 986/1869 | 329/622 | chr15 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GPR78_chr4_8575392_8595023 | 8582572 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(8): Show | a0004c0004t0001g0009a0004c0004t0001g0175a0004c0004t0002g0001others(15): Show | 19 | 462 | 0.0411 | 1 | c.712 others(4): Show |
p.Arg others(5): Show |
GPR78 | ENSG00000155269.12 | transcript | ENST00000382487.5 | protein_coding | 2/3 | 1304/4343 | 713/1092 | 238/363 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
HAUS7_chrX_153442668_153475576 | 153469186 | AG | A | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0168 | 1 | 321 | 0.0031 | -1 | c.183 others(4): Show |
p.Ser others(4): Show |
HAUS7 | ENSG00000213397.12 | transcript | ENST00000370211.10 | protein_coding | 2/10 | 202/1306 | 183/1077 | 61/358 | chrX | TogoVar | ||
HLA-B_chr6_31348875_31362179 | 31356366 | G | T | stop_gained | HIGH | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show |
a0014a0018a0024others(7): Show | a0014c0014a0018c0016a0024c0023others(7): Show | a0014c0014t0010a0014c0014t0036a0018c0016t0006others(9): Show | a0014c0014t0010g0020a0014c0014t0010g0063a0014c0014t0036g0110others(13): Show | 47 | 468 | 0.1004 | 0 | c.420 others(3): Show |
p.Tyr others(4): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 3/8 | 441/1536 | 420/1089 | 140/362 | chr6 | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132956942 | A | AC | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | 1 | c.812 others(4): Show |
p.Lys others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 839/4173 | 812/1938 | 271/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957038 | G | GC | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | 1 | c.716 others(4): Show |
p.Thr others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 743/4173 | 716/1938 | 239/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957188 | CG | C | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | -1 | c.566 others(4): Show |
p.Pro others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 593/4173 | 566/1938 | 189/645 | chrX | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132957262 | CA | C | frameshift_variant | HIGH | NA18965.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0002 | 1 | 201 | 0.0050 | -1 | c.492 others(4): Show |
p.Phe others(5): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/5 | 519/4173 | 492/1938 | 164/645 | chrX | TogoVar | ||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
IKBKG_chrX_154542620_154570033 | 154556236 | AG | A | frameshift_variant | HIGH | NA18965.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0047 | 1 | 246 | 0.0041 | -1 | c.262 others(4): Show |
p.Glu others(4): Show |
IKBKG | ENSG00000269335.7 | transcript | ENST00000594239.6 | protein_coding | 3/10 | 403/1973 | 262/1260 | 88/419 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IKBKG_chrX_154542620_154570033 | 154556267 | TC | T | frameshift_variant | HIGH | NA18965.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0047 | 1 | 246 | 0.0041 | -1 | c.292 others(4): Show |
p.Gln others(4): Show |
IKBKG | ENSG00000269335.7 | transcript | ENST00000594239.6 | protein_coding | 3/10 | 433/1973 | 292/1260 | 98/419 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006a0002c0005t0001g0027a0002c0005t0001g0028others(33): Show | 54 | 450 | 0.1200 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | TogoVar | ||
KANK2_chr19_11159270_11202545 | 11193579 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show |
a0002a0004a0013 | a0002c0014a0002c0019a0004c0006others(2): Show | a0002c0014t0001a0002c0014t0007a0002c0019t0002others(5): Show | a0002c0014t0001g0197a0002c0014t0007g0196a0002c0019t0002g0344others(7): Show | 10 | 394 | 0.0254 | 1 | c.500 others(4): Show |
p.Thr others(5): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/13 | 839/5183 | 500/2556 | 167/851 | chr19 | TogoVar | ||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KIR2DL3_chr19_54733513_54758052 | 54742226 | A | ACTCCCCC others(4): Show |
frameshift_variant | HIGH | NA18965.hp1 | a0013 | a0013c0024 | a0013c0024t0001 | a0013c0024t0001g0086 | 1 | 312 | 0.0032 | 11 | c.318 others(18): Show |
p.Gln others(5): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 3/8 | 362/1592 | 329/1026 | 110/341 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRBOX4_chrX_46442297_46479639 | 46450474 | AG | A | splice_donor_variant others(1): Show |
HIGH | NA18965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0112 | 1 | 318 | 0.0031 | -1 | c.15+ others(5): Show |
KRBOX4 | ENSG00000147121.16 | transcript | ENST00000344302.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | TogoVar | ||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0007a0008c0008others(1): Show | a0002c0002t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0002c0002t0001g0000a0007c0007t0001g0000a0008c0008t0001g0000others(1): Show | 121 | 462 | 0.2619 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
LAMC3_chr9_131004174_131099473 | 131069577 | G | GAACCCAG others(24): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01123.hp1 HG01943.hp1 others(44): Show |
a0002a0006a0010others(19): Show | a0002c0010a0002c0012a0002c0020others(23): Show | a0002c0010t0002a0002c0012t0002a0002c0012t0028others(27): Show | a0002c0010t0002g0081a0002c0010t0002g0151a0002c0010t0002g0205others(44): Show | 47 | 360 | 0.1306 | 31 | c.289 others(45): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | 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 | ||
LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 1 | c.274 others(4): Show |
p.Ile others(4): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 2/6 | 378/1221 | 275/771 | 92/256 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MAGEC3_chrX_141833316_141902832 | 141897124 | CT | C | frameshift_variant | HIGH | NA18965.hp1 | a0027 | a0027c0040 | a0027c0040t0000 | a0027c0040t0000g0138 | 1 | 298 | 0.0034 | -1 | c.136 others(5): Show |
p.Leu others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 7/8 | 1367/1932 | 1367/1932 | 456/643 | chrX | TogoVar | ||
MAGED4_chrX_52179888_52197268 | 52185947 | C | CA | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.27d others(3): Show |
p.Ser others(4): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 2/13 | 137/2537 | 28/2226 | 10/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52185997 | C | CG | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.79d others(3): Show |
p.Glu others(4): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 2/13 | 189/2537 | 80/2226 | 27/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186525 | CA | C | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | -1 | c.341 others(4): Show |
p.Asn others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 450/2537 | 341/2226 | 114/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186656 | A | AG | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.474 others(4): Show |
p.Pro others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 584/2537 | 475/2226 | 159/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186745 | AC | A | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | -1 | c.561 others(4): Show |
p.Ser others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 670/2537 | 561/2226 | 187/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186775 | G | GC | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.592 others(4): Show |
p.Gln others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 702/2537 | 593/2226 | 198/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186838 | A | AG | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.655 others(4): Show |
p.Glu others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 765/2537 | 656/2226 | 219/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186938 | G | GC | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.756 others(4): Show |
p.Lys others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 866/2537 | 757/2226 | 253/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52186970 | G | GC | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | 1 | c.786 others(4): Show |
p.Thr others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 896/2537 | 787/2226 | 263/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4_chrX_52179888_52197268 | 52187041 | GC | G | frameshift_variant | HIGH | NA18965.hp1 | a0005 | a0005c0006 | a0005c0006t0008 | a0005c0006t0008g0014 | 1 | 220 | 0.0046 | -1 | c.858 others(4): Show |
p.Lys others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 3/13 | 967/2537 | 858/2226 | 286/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar |