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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0013others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(39): Show | 55 | 176 | 0.3125 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154361546 | TC | T | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | -1 | c.296 others(5): Show |
p.Glu others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 21/48 | 3213/8507 | 2968/7944 | 990/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154361552 | T | TC | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | 1 | c.296 others(5): Show |
p.Asp others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 21/48 | 3207/8507 | 2962/7944 | 988/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154362124 | T | TG | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | 1 | c.268 others(5): Show |
p.His others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 19/48 | 2925/8507 | 2680/7944 | 894/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154362134 | T | TG | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | 1 | c.267 others(5): Show |
p.Lys others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 19/48 | 2915/8507 | 2670/7944 | 890/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154362429 | AG | A | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | -1 | c.255 others(5): Show |
p.Phe others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 17/48 | 2798/8507 | 2553/7944 | 851/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154362547 | A | AG | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | 1 | c.243 others(5): Show |
p.Gly others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 17/48 | 2680/8507 | 2435/7944 | 812/2647 | chrX | TogoVar | ||
FLNA_chrX_154343531_154379634 | 154362705 | TG | T | frameshift_variant | HIGH | NA19078.hp2 | a0020 | a0020c0019 | a0020c0019t0006 | a0020c0019t0006g0148 | 1 | 279 | 0.0036 | -1 | c.235 others(5): Show |
p.His others(5): Show |
FLNA | ENSG00000196924.19 | transcript | ENST00000369850.10 | protein_coding | 16/48 | 2604/8507 | 2359/7944 | 787/2647 | chrX | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | ||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | ||
GPR31_chr6_167150247_167162980 | 167157731 | A | AC | frameshift_variant | HIGH | HG01109.hp1 HG02145.hp2 HG03098.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0000a0002c0003t0002g0000a0002c0003t0004g0000others(2): Show | 6 | 442 | 0.0136 | 1 | c.100 others(4): Show |
p.Val others(4): Show |
GPR31 | ENSG00000120436.4 | transcript | ENST00000366834.2 | protein_coding | 1/1 | 249/2734 | 100/960 | 34/319 | chr6 | 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 | ||
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 | ||||||
GTPBP6_chrX_299759_323796 | 318741 | C | CG | frameshift_variant | HIGH | NA19078.hp2 | a0013 | a0013c0016 | a0013c0016t0002 | a0013c0016t0002g0009 | 1 | 155 | 0.0065 | 1 | c.46d others(3): Show |
p.Arg others(4): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 1/10 | 55/1875 | 46/1551 | 16/516 | chrX | TogoVar | ||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
H2BW1_chrX_104006147_104018708 | 104013359 | TC | T | frameshift_variant | HIGH | NA19078.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0022 | 1 | 330 | 0.0030 | -1 | c.217 others(4): Show |
p.Glu others(4): Show |
H2BW1 | ENSG00000123569.10 | transcript | ENST00000217926.7 | protein_coding | 1/3 | 349/915 | 217/444 | 73/147 | chrX | TogoVar | ||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | ||
HLA-A_chr6_29937532_29950870 | 29943463 | T | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0004a0029others(3): Show | a0001c0001a0004c0004a0029c0027others(3): Show | a0001c0001t0002a0004c0004t0004a0029c0027t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0027others(7): Show | 88 | 418 | 0.2105 | 0 | c.539 others(3): Show |
p.Leu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 561/1535 | 539/1098 | 180/365 | chr6 | 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 | ||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0006a0002c0018 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0023others(6): Show | 105 | 425 | 0.2471 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HYAL4_chr7_123840169_123882481 | 123868274 | A | G | start_lost | HIGH | HG00544.hp2 HG01123.hp2 HG01192.hp1 others(28): Show |
a0002 | a0002c0002a0002c0005a0002c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0017others(19): Show | 31 | 394 | 0.0787 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 3/5 | 639/2410 | 1/1446 | 1/481 | chr7 | 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 | ||
IL13RA1_chrX_118722606_118799533 | 118727695 | C | CG | frameshift_variant | HIGH | NA18974.hp2 NA19001.hp1 NA19078.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0015 | a0002c0003t0001g0122a0002c0003t0001g0251a0002c0003t0015g0091 | 3 | 280 | 0.0107 | 1 | c.62d others(3): Show |
p.Gly others(4): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 1/11 | 96/3996 | 63/1284 | 21/427 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007a0002c0003t0001g0023a0002c0003t0001g0026others(80): Show | 132 | 448 | 0.2946 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | TogoVar | ||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KDM4F_chr11_95044422_95056338 | 95050082 | G | T | stop_gained | HIGH | HG00544.hp1 HG01192.hp1 NA18963.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 14 | 440 | 0.0318 | 0 | c.661 others(3): Show |
p.Glu others(4): Show |
KDM4F | ENSG00000255855.4 | transcript | ENST00000711328.1 | protein_coding | 1/1 | 661/1917 | 661/1917 | 221/638 | chr11 | 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 | |||||
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 | ||
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 | ||
KRTAP5-1_chr11_1579342_1590283 | 1584674 | T | TCCCCCAC others(54): Show |
frameshift_variant | HIGH | NA18956.hp2 NA19078.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 2 | 429 | 0.0047 | 61 | c.575 others(68): Show |
p.Gly others(5): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 609/942 | 575/837 | 192/278 | chr11 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | 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 | ||
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 | ||
LPCAT3_chr12_6971185_7023476 | 6977132 | AC | A | splice_donor_variant others(1): Show |
HIGH | HG02258.hp1 HG02965.hp1 HG03486.hp1 others(16): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001a0002c0004t0002g0005a0002c0004t0002g0026others(12): Show | 19 | 282 | 0.0674 | -1 | c.*12 others(6): Show |
LPCAT3 | ENSG00000111684.11 | transcript | ENST00000261407.9 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
LYZL4_chr3_42392083_42415610 | 42397312 | G | A | stop_gained | HIGH | NA19078.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0121 | 1 | 396 | 0.0025 | 0 | c.394 others(3): Show |
p.Gln others(4): Show |
LYZL4 | ENSG00000157093.9 | transcript | ENST00000287748.8 | protein_coding | 5/5 | 680/909 | 394/441 | 132/146 | chr3 | TogoVar | ||
MAGEA9_chrX_149776930_149792737 | 149786716 | A | AC | frameshift_variant | HIGH | NA19068.hp1 NA19078.hp2 |
a0008a0011 | a0008c0009a0011c0006 | a0008c0009t0012a0011c0006t0010 | a0008c0009t0012g0040a0011c0006t0010g0028 | 2 | 273 | 0.0073 | 1 | c.510 others(4): Show |
p.Ala others(5): Show |
MAGEA9 | ENSG00000123584.7 | transcript | ENST00000243314.5 | protein_coding | 4/4 | 798/1814 | 511/948 | 171/315 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
MAGEB17_chrX_16162481_16176464 | 16170556 | T | TC | frameshift_variant | HIGH | NA19078.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0010 | 1 | 282 | 0.0036 | 1 | c.176 others(4): Show |
p.Gln others(4): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 529/1434 | 177/1011 | 59/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB2_chrX_30210563_30225089 | 30218618 | A | AG | frameshift_variant | HIGH | NA19078.hp2 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0029 | 1 | 320 | 0.0031 | 1 | c.39d others(3): Show |
p.Lys others(4): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 2/2 | 138/1607 | 40/960 | 14/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB2_chrX_30210563_30225089 | 30218963 | TA | T | frameshift_variant | HIGH | NA19078.hp2 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0029 | 1 | 320 | 0.0031 | -1 | c.389 others(4): Show |
p.Lys others(5): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 2/2 | 487/1607 | 389/960 | 130/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB2_chrX_30210563_30225089 | 30219016 | A | AG | frameshift_variant | HIGH | NA19078.hp2 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0029 | 1 | 320 | 0.0031 | 1 | c.439 others(4): Show |
p.Glu others(5): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 2/2 | 538/1607 | 440/960 | 147/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB2_chrX_30210563_30225089 | 30219450 | GT | G | frameshift_variant | HIGH | NA19078.hp2 | a0005 | a0005c0012 | a0005c0012t0009 | a0005c0012t0009g0029 | 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 | 973/1607 | 875/960 | 292/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB2_chrX_30210563_30225089 | 30219475 | A | AC | frameshift_variant | HIGH | NA19078.hp2 NA19083.hp1 |
a0005a0009 | a0005c0012a0009c0008 | a0005c0012t0009a0009c0008t0001 | a0005c0012t0009g0029a0009c0008t0001g0001 | 2 | 320 | 0.0063 | 1 | c.900 others(4): Show |
p.Cys others(5): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 2/2 | 999/1607 | 901/960 | 301/319 | INFO_REALIGN_3_PRIME | chrX | TogoVar |