| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| GEN1_chr2_17749138_17793946 | 17781726 | CAAGTT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(27): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0023a0004c0004t0039 | a0004c0004t0001g0003a0004c0004t0001g0006a0004c0004t0001g0039others(14): Show | 30 | 318 | 0.0943 | -5 | c.251 others(14): Show |
p.Lys others(5): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 14/14 | 2738/9957 | 2515/2727 | 839/908 | chr2 | TogoVar | ||
| GMIP_chr19_19624476_19648657 | 19633908 | C | CG | frameshift_variant | HIGH | HG01175.hp1 HG01934.hp2 HG02074.hp2 others(9): Show |
a0002a0004 | a0002c0009a0004c0004 | a0002c0009t0001a0002c0009t0002a0004c0004t0001others(1): Show | a0002c0009t0001g0061a0002c0009t0002g0159a0004c0004t0001g0049others(9): Show | 12 | 416 | 0.0289 | 1 | c.236 others(5): Show |
p.His others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 19/21 | 2494/3528 | 2366/2913 | 789/970 | chr19 | TogoVar | ||
| GOLGA6L1_chr15_23122066_23141822 | 23129472 | G | A | stop_gained others(1): Show |
HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002a0004a0006others(22): Show | a0002c0003a0002c0046a0002c0048others(24): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(27): Show | a0002c0003t0002g0005a0002c0003t0002g0015a0002c0003t0002g0016others(40): Show | 55 | 204 | 0.2696 | 0 | c.198 others(4): Show |
p.Gln others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 2072/3822 | 1981/2007 | 661/668 | chr15 | 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 | ||
| GREB1_chr2_11529045_11647788 | 11638660 | TTCTTTTT others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01175.hp1 | a0040 | a0040c0072 | a0040c0072t0058 | a0040c0072t0058g0111 | 1 | 308 | 0.0033 | -41 | c.554 others(53): Show |
p.Ile others(6): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 32/33 | 5548/5850 | 1850/1949 | chr2 | TogoVar | |||
| GRIN2C_chr17_74837023_74864885 | 74850237 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00673.hp1 HG01099.hp2 others(14): Show |
a0004 | a0004c0005a0004c0007a0004c0010others(2): Show | a0004c0005t0001a0004c0007t0001a0004c0010t0001others(2): Show | a0004c0005t0001g0022a0004c0005t0001g0121a0004c0005t0001g0134others(12): Show | 17 | 360 | 0.0472 | 1 | c.145 others(5): Show |
p.Val others(5): Show |
GRIN2C | ENSG00000161509.14 | transcript | ENST00000293190.10 | protein_coding | 6/13 | 1616/4271 | 1459/3702 | 487/1233 | chr17 | 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 | ||||||
| GYG2_chrX_2823930_2887818 | 2861538 | T | TG | frameshift_variant | HIGH | HG01175.hp2 | a0011 | a0011c0019 | a0011c0019t0004 | a0011c0019t0004g0003 | 1 | 316 | 0.0032 | 1 | c.861 others(4): Show |
p.Pro others(5): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/11 | 1036/3192 | 862/1413 | 288/470 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| H1-8_chr3_129538175_129556467 | 129547457 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01175.hp2 HG01433.hp2 others(12): Show |
a0005a0007a0009 | a0005c0007a0005c0019a0005c0020others(3): Show | a0005c0007t0001a0005c0007t0003a0005c0019t0001others(4): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0004others(10): Show | 15 | 422 | 0.0356 | 1 | c.161 others(4): Show |
p.Val others(4): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2/5 | 206/1212 | 162/1041 | 54/346 | INFO_REALIGN_3_PRIME | chr3 | 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 | ||
| HBZ_chr16_147644_159503 | 152928 | G | T | stop_gained | HIGH | HG00741.hp2 HG01175.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0072a0002c0004t0002g0080 | 2 | 432 | 0.0046 | 0 | c.19G others(2): Show |
p.Glu others(2): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 1/3 | 285/798 | 19/429 | 7/142 | chr16 | TogoVar | ||
| HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0008 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155a0002c0004t0003g0008a0002c0004t0003g0015others(19): Show | 22 | 270 | 0.0815 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | ||
| HIBCH_chr2_190198920_190324826 | 190319749 | A | G | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(101): Show |
a0003a0004 | a0003c0003a0003c0009a0004c0004 | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(8): Show | a0003c0003t0002g0194a0003c0003t0002g0198a0003c0003t0002g0202others(99): Show | 104 | 368 | 0.2826 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 1/14 | 78/2434 | 2/1161 | 1/386 | chr2 | 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 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0004a0003c0003t0002g0035a0003c0003t0002g0040others(6): Show | 58 | 425 | 0.1365 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
| HTR3D_chr3_184026742_184044369 | 184035176 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00738.hp1 HG01109.hp2 HG01175.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011a0001c0002t0003g0028 | 9 | 450 | 0.0200 | 0 | c.67- others(4): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| HUS1B_chr6_650939_662100 | 656816 | GGGGCCGA others(10): Show |
G | frameshift_variant | HIGH | HG01175.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0000 | 1 | 432 | 0.0023 | -17 | c.112 others(24): Show |
p.Ser others(4): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1/1 | 284/1162 | 112/837 | 38/278 | chr6 | TogoVar | ||
| ICAM5_chr19_10284952_10301778 | 10293783 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show |
a0003a0004 | a0003c0005a0003c0008a0003c0012others(4): Show | a0003c0005t0001a0003c0008t0001a0003c0012t0001others(4): Show | a0003c0005t0001g0001a0003c0005t0001g0003a0003c0005t0001g0014others(13): Show | 35 | 432 | 0.0810 | 1 | c.155 others(5): Show |
p.Val others(5): Show |
ICAM5 | ENSG00000105376.5 | transcript | ENST00000221980.5 | protein_coding | 7/11 | 1648/3029 | 1556/2775 | 519/924 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | 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 | ||
| IGF1R_chr15_98643539_98969530 | 98957406 | GCGGGCCT others(6): Show |
G | frameshift_variant | HIGH | HG01175.hp1 | a0000 | a0000c0016 | a0000c0016t0046 | a0000c0016t0046g0154 | 1 | 210 | 0.0048 | -13 | c.406 others(22): Show |
p.Arg others(6): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 21/21 | 5112/12235 | 4069/4104 | 1357/1367 | chr15 | 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 | ||
| KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0300a0002c0003t0001g0301a0002c0003t0001g0302others(32): Show | 35 | 338 | 0.1036 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | TogoVar | ||
| KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004a0000c0002t0008others(1): Show | a0000c0002t0002g0001a0000c0002t0002g0008a0000c0002t0002g0020others(31): Show | 121 | 400 | 0.3025 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | ||
| KLHL24_chr3_183630623_183689519 | 183635795 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01069.hp2 HG01071.hp2 HG01175.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0021a0001c0001t0035others(6): Show | a0001c0001t0009g0039a0001c0001t0009g0040a0001c0001t0009g0041others(22): Show | 26 | 312 | 0.0833 | 0 | c.-12 others(6): Show |
KLHL24 | ENSG00000114796.16 | transcript | ENST00000242810.11 | protein_coding | 1/7 | chr3 | TogoVar | ||||||
| KLHL6_chr3_183482551_183560706 | 183555652 | A | T | start_lost | HIGH | HG01069.hp1 HG01071.hp1 HG01175.hp2 |
a0004 | a0004c0012 | a0004c0012t0021 | a0004c0012t0021g0006a0004c0012t0021g0007a0004c0012t0021g0008 | 3 | 298 | 0.0101 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/7 | 55/6295 | 2/1866 | 1/621 | chr3 | 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 | |||||
| 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 | ||
| KRT33B_chr17_41358498_41374813 | 41369474 | G | A | stop_gained | HIGH | HG01175.hp1 | a0007 | a0007c0020 | a0007c0020t0001 | a0007c0020t0001g0058 | 1 | 425 | 0.0024 | 0 | c.277 others(3): Show |
p.Gln others(3): Show |
KRT33B | ENSG00000131738.11 | transcript | ENST00000251646.8 | protein_coding | 1/7 | 340/1616 | 277/1215 | 93/404 | chr17 | TogoVar | ||
| KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | ||
| KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | ||
| KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0013others(2): Show | a0001c0002t0001g0000a0001c0002t0005g0000a0001c0002t0013g0000others(2): Show | 147 | 411 | 0.3577 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | ||
| KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
| KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 43 | 460 | 0.0935 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | 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 | ||
| LAMA5_chr20_62304065_62372312 | 62309401 | C | CG | frameshift_variant | HIGH | HG00733.hp2 HG01175.hp2 HG01243.hp1 others(9): Show |
a0000 | a0000c0034a0000c0050a0000c0065others(9): Show | a0000c0034t0001a0000c0050t0001a0000c0065t0001others(9): Show | a0000c0034t0001g0175a0000c0050t0001g0060a0000c0065t0001g0041others(9): Show | 12 | 186 | 0.0645 | 1 | c.110 others(6): Show |
p.Val others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 80/80 | 11089/11426 | 11022/11088 | 3674/3695 | chr20 | TogoVar | ||
| LAMA5_chr20_62304065_62372312 | 62316997 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00673.hp2 HG00733.hp1 others(16): Show |
a0013a0014a0016others(10): Show | a0013c0126a0013c0135a0014c0019others(15): Show | a0013c0126t0001a0013c0135t0001a0014c0019t0001others(15): Show | a0013c0126t0001g0065a0013c0135t0001g0064a0014c0019t0001g0150others(16): Show | 19 | 186 | 0.1022 | 1 | c.753 others(5): Show |
p.Arg others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 56/80 | 7604/11426 | 7537/11088 | 2513/3695 | chr20 | 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 | ||
| 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 | ||
| LOC101059915_chrX_71662546_71676527 | 71668071 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 NA18994.hp1 others(1): Show |
a0004 | a0004c0005a0004c0013 | a0004c0005t0001a0004c0013t0001 | a0004c0005t0001g0001a0004c0013t0001g0019 | 4 | 340 | 0.0118 | 1 | c.272 others(4): Show |
p.Val others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 531/1990 | 273/1557 | 91/518 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
| MAGEC3_chrX_141833316_141902832 | 141879368 | GCTACACC others(10): Show |
G | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show |
a0006 | a0006c0006a0006c0017a0006c0026others(2): Show | a0006c0006t0000a0006c0017t0000a0006c0026t0000others(2): Show | a0006c0006t0000g0022a0006c0006t0000g0069a0006c0006t0000g0216others(15): Show | 18 | 298 | 0.0604 | -17 | c.455 others(24): Show |
p.Tyr others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 3/8 | 455/1932 | 455/1932 | 152/643 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAPK11_chr22_50258713_50275380 | 50266978 | C | CG | frameshift_variant | HIGH | HG01175.hp2 HG01256.hp1 HG02293.hp2 others(6): Show |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0004t0002a0002c0004t0003others(2): Show | a0002c0004t0001g0096a0002c0004t0001g0128a0002c0004t0002g0068others(6): Show | 9 | 428 | 0.0210 | 1 | c.565 others(4): Show |
p.Arg others(5): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 7/12 | 653/2418 | 565/1095 | 189/364 | chr22 | TogoVar | ||
| MELTF_chr3_196996740_197034817 | 197016354 | C | A | stop_gained | HIGH | HG01175.hp2 | a0010 | a0010c0031 | a0010c0031t0001 | a0010c0031t0001g0232 | 1 | 420 | 0.0024 | 0 | c.916 others(3): Show |
p.Glu others(4): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 8/16 | 1031/3964 | 916/2217 | 306/738 | chr3 | TogoVar | ||
| MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0000 | a0000c0001a0000c0011a0000c0013others(3): Show | a0000c0001t0002a0000c0001t0003a0000c0011t0003others(4): Show | a0000c0001t0002g0029a0000c0001t0003g0006a0000c0001t0003g0009others(21): Show | 86 | 439 | 0.1959 | 11 | c.952 others(18): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar |