view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000 a0001c0002t0003g0000 a0001c0003t0001g0000 others(3): Show |
84 | 174 | 0.4828 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | |||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0002a0005a0022others(2): Show | a0002c0002a0002c0016a0002c0040others(5): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0011others(9): Show | a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0011g0000 others(9): Show |
108 | 450 | 0.2400 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 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 | |||
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 | a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show |
84 | 348 | 0.2414 | 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 | |||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 others(1): Show |
101 | 443 | 0.2280 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466823 | T | C | stop_lost others(1): Show |
HIGH | HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(3): Show |
30 | 224 | 0.1339 | 0 | c.256 others(4): Show |
p.Ter others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2654/4401 | 2563/2565 | 855/854 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(212): Show |
a0001a0006a0015others(8): Show | a0001c0001a0001c0014a0001c0023others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(43): Show |
215 | 306 | 0.7026 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(283): Show |
a0001a0003a0006others(19): Show | a0001c0001a0001c0005a0001c0010others(44): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(55): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(82): Show |
286 | 393 | 0.7277 | 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(387): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0005a0001c0010others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(82): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(119): Show |
390 | 394 | 0.9898 | -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 |
a0001a0007a0010others(10): Show | a0001c0001a0001c0010a0001c0031others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(47): Show |
94 | 212 | 0.4434 | 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 | |||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0012a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0018 others(60): Show |
78 | 428 | 0.1822 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | |||
GOT1L1_chr8_37929281_37945124 | 37934470 | GT | G | frameshift_variant | HIGH | HG02056.hp2 HG02080.hp2 NA18944.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0015 a0003c0003t0001g0023 |
9 | 431 | 0.0209 | -1 | c.108 others(5): Show |
p.Tyr others(5): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 9/9 | 1183/1373 | 1088/1266 | 363/421 | chr8 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 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 |
a0003a0005a0010others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006 a0003c0003t0001g0008 a0003c0003t0001g0011 others(35): Show |
60 | 366 | 0.1639 | 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 | a0005c0005t0001g0004 a0005c0005t0001g0050 a0005c0005t0001g0051 others(13): Show |
25 | 366 | 0.0683 | 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 | |||
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 | a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0014 others(47): Show |
125 | 398 | 0.3141 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
HLA-DPB1_chr6_33070990_33094696 | 33080689 | G | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00673.hp1 others(113): Show |
a0006a0007a0009others(13): Show | a0006c0008a0006c0010a0006c0037others(15): Show | a0006c0008t0003a0006c0008t0012a0006c0010t0003others(18): Show | a0006c0008t0003g0009 a0006c0008t0003g0013 a0006c0008t0003g0070 others(31): Show |
116 | 454 | 0.2555 | 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-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 | a0005c0006t0004g0005 a0005c0006t0004g0016 a0005c0006t0004g0022 others(15): Show |
102 | 400 | 0.2550 | 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 | a0002c0002a0002c0005a0002c0016 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0018 a0002c0002t0001g0022 others(6): Show |
105 | 424 | 0.2476 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | 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(378): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(158): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0012others(160): Show | a0001c0001t0002g0001 a0001c0001t0002g0040 a0001c0001t0002g0189 others(169): Show |
381 | 415 | 0.9181 | -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 | |||
HSD17B13_chr4_87298794_87327882 | 87310240 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0010 | a0001c0001t0001a0001c0001t0002a0006c0008t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
96 | 440 | 0.2182 | 1 | c.812 others(6): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | 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 | a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show |
194 | 456 | 0.4254 | 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 | |||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show |
54 | 448 | 0.1205 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | TogoVar | |||
IMPG2_chr3_101217546_101325575 | 101320333 | TACCCAGA others(9): Show |
T | frameshift_variant | HIGH | NA18957.hp1 | a0010 | a0010c0008 | a0010c0008t0024 | a0010c0008t0024g0031 | 1 | 358 | 0.0028 | -16 | c.24_ others(21): Show |
p.Lys others(3): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 1/19 | 242/8352 | 24/3726 | 8/1241 | chr3 | TogoVar | |||
IQCN_chr19_18252098_18279452 | 18267502 | TGATTACC others(3): Show |
T | frameshift_variant | HIGH | NA18957.hp1 | a0030 | a0030c0024 | a0030c0024t0002 | a0030c0024t0002g0306 | 1 | 432 | 0.0023 | -10 | c.28_ others(15): Show |
p.Ser others(4): Show |
IQCN | ENSG00000130518.18 | transcript | ENST00000392413.5 | protein_coding | 3/4 | 196/4345 | 28/4104 | 10/1367 | chr19 | TogoVar | |||
IRF9_chr14_24156265_24171565 | 24164638 | TCTACAAC others(10): Show |
T | frameshift_variant | HIGH | NA18957.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0002 | 1 | 436 | 0.0023 | -17 | c.675 others(24): Show |
p.Tyr others(5): Show |
IRF9 | ENSG00000213928.10 | transcript | ENST00000396864.8 | protein_coding | 7/9 | 750/1626 | 675/1182 | 225/393 | chr14 | TogoVar | |||
KAT2A_chr17_42108111_42126367 | 42118011 | ACTGAAGC others(32): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG02615.hp2 HG02976.hp1 HG03098.hp2 others(10): Show |
a0002 | a0002c0002a0002c0014 | a0002c0002t0001a0002c0002t0002a0002c0014t0001 | a0002c0002t0001g0055 a0002c0002t0002g0006 a0002c0002t0002g0017 others(2): Show |
13 | 352 | 0.0369 | -39 | c.118 others(51): Show |
p.Ala others(13): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 8/18 | 1249/3115 | 1181/2514 | 394/837 | chr17 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
191 | 368 | 0.5190 | -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 |
a0005a0006a0011others(6): Show | a0005c0014a0005c0019a0005c0049others(17): Show | a0005c0014t0001a0005c0019t0003a0005c0019t0004others(19): Show | a0005c0014t0001g0104 a0005c0014t0001g0278 a0005c0014t0001g0300 others(26): Show |
29 | 386 | 0.0751 | 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 | ||
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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 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 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0014others(1): Show | a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0020 others(31): Show |
121 | 398 | 0.3040 | -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 | |||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show |
203 | 422 | 0.4810 | -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 | |||
KRT6B_chr12_52441651_52457146 | 52452077 | A | G | start_lost | HIGH | NA18957.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0002 | 1 | 432 | 0.0023 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 1/9 | 70/2302 | 2/1695 | 1/564 | chr12 | TogoVar | |||
KRT85_chr12_52355006_52372481 | 52365117 | G | T | stop_gained | HIGH | NA18957.hp1 | a0010 | a0010c0013 | a0010c0013t0012 | a0010c0013t0012g0036 | 1 | 416 | 0.0024 | 0 | c.474 others(3): Show |
p.Tyr others(4): Show |
KRT85 | ENSG00000135443.8 | transcript | ENST00000257901.7 | protein_coding | 2/9 | 550/2447 | 474/1524 | 158/507 | chr12 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0010others(9): Show | a0002c0002a0002c0006a0002c0024others(19): Show | a0002c0002t0002a0002c0006t0002a0002c0024t0002others(21): Show | a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0024t0002g0000 others(21): Show |
116 | 426 | 0.2723 | 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 | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001others(1): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0003c0004t0001g0000 others(1): Show |
146 | 211 | 0.6919 | 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(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 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 | a0002c0002t0001 | a0002c0002t0001g0000 | 43 | 458 | 0.0939 | 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 | |||
LAMC3_chr9_131004174_131099473 | 131069577 | G | GAACCCAG others(24): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01123.hp1 HG01943.hp1 others(44): Show |
a0003a0006a0008others(18): Show | a0003c0010a0003c0012a0003c0020others(23): Show | a0003c0010t0002a0003c0012t0002a0003c0012t0028others(27): Show | a0003c0010t0002g0081 a0003c0010t0002g0151 a0003c0010t0002g0205 others(44): Show |
47 | 358 | 0.1313 | 31 | c.289 others(45): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LCE2B_chr1_152681123_152692397 | 152686157 | G | C | splice_donor_variant others(1): Show |
HIGH | NA18957.hp1 NA18974.hp1 NA18987.hp2 others(1): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0007 a0009c0011t0001g0007 |
4 | 444 | 0.0090 | 0 | c.-21 others(5): Show |
LCE2B | ENSG00000159455.9 | transcript | ENST00000368780.4 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 others(12): Show |
86 | 390 | 0.2205 | 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 | |||
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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 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 | |||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0017a0024others(1): Show | a0001c0001a0017c0023a0024c0021others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0024 others(12): Show |
68 | 426 | 0.1596 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 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 | |||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show |
187 | 286 | 0.6538 | 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 | |||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0005a0007 | a0002c0002a0002c0003a0002c0009others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0009t0001others(3): Show | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0009t0001g0000 others(3): Show |
123 | 275 | 0.4473 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | |||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(91): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show |
94 | 402 | 0.2338 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | |||
METTL17_chr14_20984980_21002035 | 20996707 | GGCAGGTA others(69): Show |
G | splice_acceptor_variant others(4): Show |
HIGH | NA18957.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0105 | 1 | 476 | 0.0021 | -76 | c.126 others(87): Show |
p.Arg others(6): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1286/1539 | 1263/1371 | 421/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
METTL17_chr14_20984980_21002035 | 20996849 | G | GGTTACTA others(70): Show |
frameshift_variant | HIGH | NA18957.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0105 | 1 | 476 | 0.0021 | 77 | c.133 others(86): Show |
p.Ala others(5): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 14/14 | 1354/1539 | 1331/1371 | 444/456 | chr14 | TogoVar |