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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | 23440076 | C | CCTGGCCC others(409): Show |
frameshift_variant | HIGH | HG00621.hp1 HG01243.hp1 HG01884.hp1 others(16): Show |
a0001a0017a0018 | a0001c0003a0001c0017a0017c0043others(1): Show | a0001c0003t0001a0001c0017t0001a0017c0043t0001others(1): Show | a0001c0003t0001g0006a0001c0003t0001g0017a0001c0003t0001g0133others(4): Show | 19 | 396 | 0.0480 | 416 | c.239 others(425): 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 | ||
GOLGA6L4_chr15_84230773_84250358 | 84240654 | G | T | stop_gained | HIGH | HG01109.hp1 HG01255.hp1 HG01261.hp1 others(9): Show |
a0007a0034a0044others(2): Show | a0007c0014a0007c0028a0007c0029others(4): Show | a0007c0014t0013a0007c0014t0043a0007c0028t0011others(6): Show | a0007c0014t0013g0011a0007c0014t0043g0011a0007c0028t0011g0013others(6): Show | 12 | 251 | 0.0478 | 0 | c.130 others(4): Show |
p.Glu others(4): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1362/4553 | 1300/1725 | 434/574 | 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 | ||
GPR135_chr14_59455759_59470380 | 59464198 | G | GCA | frameshift_variant | HIGH | HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show |
a0003a0010 | a0003c0004a0010c0016 | a0003c0004t0001a0010c0016t0001 | a0003c0004t0001g0000a0010c0016t0001g0000 | 16 | 368 | 0.0435 | 2 | c.102 others(11): Show |
p.Trp others(5): Show |
GPR135 | ENSG00000181619.12 | transcript | ENST00000395116.2 | protein_coding | 1/1 | 1182/4622 | 1028/1485 | 343/494 | chr14 | 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 | ||
GPRC6A_chr6_116787085_116834083 | 116792598 | A | AGGT | stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0003a0005a0015others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006a0003c0003t0001g0008a0003c0003t0001g0011others(35): Show | 60 | 368 | 0.1630 | 3 | c.232 others(12): Show |
p.Tyr others(15): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 6/6 | 2394/2908 | 2324/2781 | 775/926 | chr6 | TogoVar | ||
GPRC6A_chr6_116787085_116834083 | 116828845 | G | A | stop_gained | HIGH | HG00099.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
a0005 | a0005c0005a0005c0015a0005c0028 | a0005c0005t0001a0005c0015t0001a0005c0028t0001 | a0005c0005t0001g0004a0005c0005t0001g0050a0005c0005t0001g0051others(13): Show | 25 | 368 | 0.0679 | 0 | c.169 others(3): Show |
p.Arg others(3): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 1/6 | 239/2908 | 169/2781 | 57/926 | chr6 | TogoVar | ||
GRIN3B_chr19_995419_1014732 | 1004897 | G | GCGTT | frameshift_variant | HIGH | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(55): Show |
a0003a0010a0023others(6): Show | a0003c0005a0003c0025a0003c0026others(21): Show | a0003c0005t0002a0003c0025t0002a0003c0026t0002others(21): Show | a0003c0005t0002g0006a0003c0005t0002g0017a0003c0005t0002g0047others(35): Show | 58 | 446 | 0.1300 | 4 | c.139 others(13): Show |
p.Gly others(5): Show |
GRIN3B | ENSG00000116032.5 | transcript | ENST00000234389.3 | protein_coding | 3/9 | 1416/3281 | 1397/3132 | 466/1043 | chr19 | 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 | ||||||
HAP1_chr17_41717640_41739643 | 41724714 | G | T | stop_gained | HIGH | HG01243.hp2 HG01884.hp1 HG02083.hp2 others(18): Show |
a0006a0014a0020others(3): Show | a0006c0006a0014c0015a0020c0027others(3): Show | a0006c0006t0004a0006c0006t0012a0006c0006t0016others(5): Show | a0006c0006t0004g0007a0006c0006t0004g0104a0006c0006t0004g0105others(16): Show | 21 | 374 | 0.0562 | 0 | c.184 others(4): Show |
p.Ser others(4): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 11/11 | 1856/3930 | 1847/1860 | 616/619 | chr17 | 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 | ||
HID1_chr17_74945742_74977759 | 74963082 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0002 | a0001c0001t0001g0187a0001c0006t0001g0020a0001c0006t0001g0021others(3): Show | 11 | 364 | 0.0302 | 0 | c.388 others(5): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3/18 | chr17 | 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 | ||
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 | |
IDI2_chr10_1013910_1030859 | 1019517 | T | A | stop_lost | HIGH | HG00621.hp1 HG01167.hp1 HG01167.hp2 others(24): Show |
a0000 | a0000c0004a0000c0005a0000c0010 | a0000c0004t0001a0000c0004t0008a0000c0005t0001others(2): Show | a0000c0004t0001g0014a0000c0004t0001g0018a0000c0004t0001g0021others(12): Show | 27 | 434 | 0.0622 | 0 | c.684 others(3): Show |
p.Ter others(11): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 5/5 | 749/1356 | 684/684 | 228/227 | chr10 | 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 | ||
IL19_chr1_206765773_206847981 | 206841003 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG02615.hp2 HG02630.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0002c0002t0008 | a0001c0001t0015g0117a0002c0002t0008g0116 | 2 | 366 | 0.0055 | 0 | c.364 others(5): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 5/6 | chr1 | 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 | ||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0045others(102): Show | 105 | 142 | 0.7394 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | ||||||
KBTBD8_chr3_66993307_67016210 | 67007905 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp1 HG02145.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0014a0001c0001t0002g0055a0001c0001t0005g0009others(7): Show | 16 | 390 | 0.0410 | 1 | c.134 others(7): Show |
KBTBD8 | ENSG00000163376.11 | transcript | ENST00000417314.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB3_chr3_179237771_179256114 | 179242978 | CT | C | frameshift_variant | HIGH | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0002a0003c0003t0002g0016a0003c0003t0002g0024others(5): Show | 34 | 370 | 0.0919 | -1 | c.753 others(4): Show |
p.Val others(5): Show |
KCNMB3 | ENSG00000171121.17 | transcript | ENST00000392685.7 | protein_coding | 3/3 | 877/1085 | 753/828 | 251/275 | chr3 | TogoVar | ||
KCTD14_chr11_78010715_78028276 | 78023248 | A | T | start_lost | HIGH | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037a0002c0003t0001g0039a0002c0003t0001g0063others(9): Show | 26 | 468 | 0.0556 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/2 | 29/1673 | 2/768 | 1/255 | chr11 | 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 | |||||
KIF1B_chr1_10205570_10386603 | 10210879 | G | T | splice_donor_variant others(1): Show |
HIGH | HG01167.hp2 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020a0001c0001t0028 | a0001c0001t0013g0297a0001c0001t0013g0298a0001c0001t0013g0299others(3): Show | 6 | 300 | 0.0200 | 0 | c.-80 others(5): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 1/48 | chr1 | 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 | |
KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.119 others(4): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1231/1871 | 1198/1335 | 400/444 | chr19 | TogoVar | ||
KIR3DL1_chr19_54811468_54835778 | 54830273 | T | C | stop_lost | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 0 | c.133 others(4): Show |
p.Ter others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1366/1871 | 1333/1335 | 445/444 | 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 | ||||||
KLK6_chr19_50953631_50974591 | 50968592 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01070.hp1 HG02055.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(7): Show | 10 | 316 | 0.0317 | 0 | c.-59 others(5): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 63 | 425 | 0.1482 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | |||||
KMT5B_chr11_68149863_68218296 | 68158421 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0051a0002c0002t0001g0075a0002c0002t0001g0088others(12): Show | 15 | 328 | 0.0457 | 1 | c.192 others(5): Show |
p.Val others(5): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 11/11 | 2159/5718 | 1924/2658 | 642/885 | chr11 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0000 | a0000c0011a0000c0012a0000c0014others(16): Show | a0000c0011t0005a0000c0011t0006a0000c0012t0005others(17): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0012t0005g0000others(17): Show | 35 | 476 | 0.0735 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | 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 | ||
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 | ||
KRTAP2-1_chr17_41041541_41052316 | 41046943 | AGCAGGGG others(5366): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02630.hp2 HG04204.hp2 |
a0000 | a0000c0006 | a0000c0006t0010a0000c0006t0016 | a0000c0006t0010g0000a0000c0006t0016g0000 | 3 | 407 | 0.0074 | -5373 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 373/776 | 1/387 | 1/128 | 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 | ||
KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | 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 | ||
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 | ||
LGALS12_chr11_63501084_63521772 | 63506460 | T | C | start_lost | HIGH | HG01496.hp2 HG01891.hp1 HG02258.hp1 others(4): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0003a0003c0003t0004a0003c0006t0003 | a0003c0003t0003g0095a0003c0003t0004g0091a0003c0003t0004g0092others(4): Show | 7 | 434 | 0.0161 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LGALS12 | ENSG00000133317.16 | transcript | ENST00000394618.9 | protein_coding | 1/9 | 377/1699 | 2/945 | 1/314 | chr11 | 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 | ||
LIAT1_chr17_405325_419666 | 410436 | C | T | stop_gained | HIGH | HG02630.hp1 HG03453.hp1 |
a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0002a0018c0020t0001g0031 | 2 | 434 | 0.0046 | 0 | c.94C others(2): Show |
p.Gln others(3): Show |
LIAT1 | ENSG00000187624.9 | transcript | ENST00000360127.7 | protein_coding | 1/2 | 112/1841 | 94/1272 | 32/423 | chr17 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220017 | GACCCCCG others(7983): Show |
G | exon_loss_variant | HIGH | HG02630.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0007 | a0007c0021a0007c0077 | a0007c0021t0014a0007c0077t0006 | a0007c0021t0014g0029a0007c0077t0006g0148 | 4 | 455 | 0.0088 | -7990 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | 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 |