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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FRMPD3_chrX_107444652_107610251 | 107601955 | C | CG | frameshift_variant | HIGH | HG02145.hp1 HG03710.hp1 NA18965.hp1 others(2): Show |
a0003a0004a0008 | a0003c0007a0003c0010a0004c0013others(1): Show | a0003c0007t0001a0003c0007t0015a0003c0010t0002others(2): Show | a0003c0007t0001g0063a0003c0007t0015g0104a0003c0010t0002g0030others(2): Show | 5 | 183 | 0.0273 | 1 | c.392 others(5): Show |
p.Arg others(6): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 15/15 | 4285/7573 | 3924/5334 | 1308/1777 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | 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 | ||
GAL3ST3_chr11_66035765_66054161 | 66043477 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
a0003a0004a0006 | a0003c0005a0003c0015a0003c0016others(2): Show | a0003c0005t0001a0003c0005t0002a0003c0005t0005others(5): Show | a0003c0005t0001g0017a0003c0005t0001g0062a0003c0005t0002g0016others(11): Show | 22 | 394 | 0.0558 | 1 | c.325 others(4): Show |
p.Arg others(5): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 3/3 | 588/3301 | 325/1296 | 109/431 | chr11 | TogoVar | ||
GALR2_chr17_76069781_76082537 | 76077366 | TGTCCTGG others(3): Show |
T | frameshift_variant | HIGH | HG01074.hp2 HG01243.hp1 HG01361.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0005 | 10 | 405 | 0.0247 | -10 | c.110 others(19): Show |
p.Pro others(5): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 2/2 | 1211/1373 | 1108/1164 | 370/387 | INFO_REALIGN_3_PRIME | chr17 | 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 | ||
GMIP_chr19_19624476_19648657 | 19637409 | C | CG | frameshift_variant | HIGH | HG00609.hp1 HG01099.hp1 HG01978.hp1 others(18): Show |
a0002 | a0002c0002a0002c0008a0002c0009others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0020a0002c0002t0001g0062others(12): Show | 21 | 416 | 0.0505 | 1 | c.107 others(5): Show |
p.Pro others(5): Show |
GMIP | ENSG00000089639.11 | transcript | ENST00000203556.9 | protein_coding | 11/21 | 1207/3528 | 1079/2913 | 360/970 | chr19 | 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 | ||
GOLGA6L6_chr15_20526856_20546800 | 20535014 | C | A | stop_gained | HIGH | HG00408.hp1 HG00609.hp1 HG00735.hp1 others(91): Show |
a0001a0006a0010others(13): Show | a0001c0001a0001c0005a0001c0019others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(49): Show | 94 | 214 | 0.4393 | 0 | c.142 others(4): Show |
p.Glu others(4): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1511/4013 | 1420/2175 | 474/724 | chr15 | TogoVar | ||
GOLGA8G_chr15_28514611_28537971 | 28521486 | AGCTTTCC others(4921): Show |
A | exon_loss_variant | HIGH | HG02055.hp1 HG02145.hp1 HG02809.hp2 others(2): Show |
a0000 | a0000c0004a0000c0023 | a0000c0004t0005a0000c0004t0019a0000c0023t0005 | a0000c0004t0005g0004a0000c0004t0019g0028a0000c0023t0005g0027 | 5 | 100 | 0.0500 | -4928 | c.101 others(10): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 18/19 | 3095/4971 | chr15 | TogoVar | |||||
GPR173_chrX_53043789_53085615 | 53077675 | A | AG | frameshift_variant | HIGH | HG02145.hp1 | a0000 | a0000c0015 | a0000c0015t0002 | a0000c0015t0002g0164 | 1 | 208 | 0.0048 | 1 | c.105 others(5): Show |
p.Thr others(5): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 2/2 | 1850/4787 | 1057/1122 | 353/373 | INFO_REALIGN_3_PRIME | chrX | 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 | ||
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 | ||
HAO2_chr1_119363785_119399130 | 119386643 | C | T | stop_gained | HIGH | HG02145.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0097 | 1 | 428 | 0.0023 | 0 | c.583 others(3): Show |
p.Gln others(4): Show |
HAO2 | ENSG00000116882.15 | transcript | ENST00000325945.4 | protein_coding | 5/8 | 709/1472 | 583/1056 | 195/351 | chr1 | TogoVar | ||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0000a0006a0008others(10): Show | a0000c0009a0000c0012a0000c0018others(15): Show | a0000c0009t0006a0000c0009t0018a0000c0012t0006others(18): Show | a0000c0009t0006g0014a0000c0009t0006g0038a0000c0009t0006g0089others(31): Show | 116 | 455 | 0.2550 | 0 | c.118 others(3): Show |
p.Gly others(3): Show |
HLA-DPB1 | ENSG00000223865.11 | transcript | ENST00000418931.7 | protein_coding | 2/6 | 170/3991 | 118/777 | 40/258 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HMCN2_chr9_130260760_130439123 | 130427505 | G | T | stop_gained | HIGH | HG02145.hp2 HG02615.hp2 HG03098.hp1 others(2): Show |
a0075a0083a0133others(2): Show | a0075c0110a0083c0068a0133c0152others(2): Show | a0075c0110t0001a0083c0068t0001a0133c0152t0002others(2): Show | a0075c0110t0001g0058a0083c0068t0001g0108a0133c0152t0002g0204others(2): Show | 5 | 258 | 0.0194 | 0 | c.139 others(5): Show |
p.Glu others(5): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 92/98 | 14070/15789 | 13951/15240 | 4651/5079 | chr9 | 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 | |||||
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 | ||
HTN3_chr4_70023459_70041538 | 70033205 | T | A | stop_gained | HIGH | HG01109.hp2 HG01243.hp2 HG01891.hp1 others(14): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0006a0002c0003t0002g0013a0002c0003t0002g0031others(1): Show | 17 | 412 | 0.0413 | 0 | c.141 others(3): Show |
p.Tyr others(3): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 5/6 | 212/532 | 141/156 | 47/51 | chr4 | 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 | ||
IFNA13_chr9_21362372_21373057 | 21368009 | A | G | start_lost | HIGH | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(11): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0004c0006t0002 | a0002c0002t0002g0000a0004c0006t0002g0000 | 14 | 466 | 0.0300 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
IFNA13 | ENSG00000233816.4 | transcript | ENST00000610660.2 | protein_coding | 1/1 | 49/686 | 2/573 | 1/190 | chr9 | TogoVar | ||
IFNE_chr9_21475839_21487313 | 21481484 | G | A | stop_gained | HIGH | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 61 | 450 | 0.1356 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 1/1 | 830/1475 | 211/627 | 71/208 | chr9 | TogoVar | ||
INMT_chr7_30747135_30762602 | 30755426 | C | T | stop_gained | HIGH | HG02145.hp1 HG02280.hp1 |
a0011 | a0011c0017 | a0011c0017t0034a0011c0017t0035 | a0011c0017t0034g0024a0011c0017t0035g0024 | 2 | 434 | 0.0046 | 0 | c.367 others(3): Show |
p.Arg others(4): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 3/3 | 383/2559 | 367/792 | 123/263 | chr7 | TogoVar | ||
INSL4_chr9_5226419_5240304 | 5231525 | T | C | start_lost | HIGH | HG02055.hp2 HG02109.hp2 HG02145.hp1 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0003 | 5 | 428 | 0.0117 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
INSL4 | ENSG00000120211.4 | transcript | ENST00000239316.4 | protein_coding | 1/2 | 107/1952 | 2/420 | 1/139 | chr9 | 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 | ||
ITIH5_chr10_7554270_7671966 | 7563115 | T | TC | frameshift_variant | HIGH | HG01884.hp2 HG02071.hp2 HG02145.hp1 others(24): Show |
a0000 | a0000c0011a0000c0013a0000c0014others(14): Show | a0000c0011t0007a0000c0011t0030a0000c0011t0031others(21): Show | a0000c0011t0007g0084a0000c0011t0007g0137a0000c0011t0030g0013others(24): Show | 27 | 342 | 0.0790 | 1 | c.279 others(5): Show |
p.Thr others(5): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 14/14 | 2870/6716 | 2796/2829 | 932/942 | chr10 | 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 | |||||
KCNJ16_chr17_70070225_70140608 | 70100767 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0129a0001c0001t0001g0243others(46): Show | 50 | 330 | 0.1515 | 0 | c.-19 others(6): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | 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 | ||
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 | |||||
KDM6B_chr17_7829217_7859796 | 7847818 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
a0005a0009a0016others(8): Show | a0005c0014a0005c0019a0005c0049others(17): Show | a0005c0014t0001a0005c0019t0003a0005c0019t0004others(19): Show | a0005c0014t0001g0104a0005c0014t0001g0277a0005c0014t0001g0299others(26): Show | 29 | 388 | 0.0747 | 1 | c.153 others(5): Show |
p.Arg others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 2059/6728 | 1538/4932 | 513/1643 | INFO_REALIGN_3_PRIME | chr17 | 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 | |||||
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 | ||||||
KIR2DL3_chr19_54733513_54758052 | 54752517 | T | A | stop_lost | HIGH | HG02145.hp1 HG02976.hp2 HG03130.hp2 others(6): Show |
a0000a0011 | a0000c0006a0000c0010a0000c0014others(2): Show | a0000c0006t0005a0000c0010t0006a0000c0014t0019others(2): Show | a0000c0006t0005g0056a0000c0006t0005g0057a0000c0006t0005g0058others(6): Show | 9 | 312 | 0.0289 | 0 | c.102 others(4): Show |
p.Ter others(11): Show |
KIR2DL3 | ENSG00000243772.8 | transcript | ENST00000342376.4 | protein_coding | 8/8 | 1057/1592 | 1024/1026 | 342/341 | chr19 | TogoVar | ||
KLF16_chr19_1847399_1868579 | 1854587 | C | CG | frameshift_variant | HIGH | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(23): Show |
a0000 | a0000c0004a0000c0005a0000c0009 | a0000c0004t0002a0000c0004t0004a0000c0004t0005others(5): Show | a0000c0004t0002g0075a0000c0004t0002g0081a0000c0004t0002g0083others(22): Show | 26 | 398 | 0.0653 | 1 | c.630 others(4): Show |
p.Gly others(5): Show |
KLF16 | ENSG00000129911.9 | transcript | ENST00000250916.6 | protein_coding | 2/2 | 712/2901 | 630/759 | 210/252 | 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 | |||||
KRT33A_chr17_41341092_41355828 | 41350492 | TGACCGCT others(5329): Show |
T | start_lost others(1): Show |
HIGH | HG02145.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0006 | 10 | 449 | 0.0223 | -5336 | c.-50 others(9): Show |
p.Met others(10): Show |
KRT33A | ENSG00000006059.4 | transcript | ENST00000007735.4 | protein_coding | 1/7 | 336/1303 | 1/1215 | 1/404 | chr17 | 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 | ||
KRTAP2-3_chr17_41054240_41065114 | 41060049 | A | AC | frameshift_variant others(1): Show |
HIGH | HG02145.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0000 | 8 | 441 | 0.0181 | 1 | c.1_2 others(4): Show |
p.Met others(3): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | 65/875 | 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 | ||
KRTAP9-6_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 | ||
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 |