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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH11_chr7_21538039_21906839 | 21543345 | G | T | stop_gained | HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(104): Show |
a0008a0009a0016others(81): Show | a0008c0214a0008c0262a0008c0266others(98): Show | a0008c0214t0006a0008c0262t0001a0008c0266t0005others(99): Show | a0008c0214t0006g0175a0008c0262t0001g0139a0008c0266t0005g0137others(104): Show | 107 | 298 | 0.3591 | 0 | c.100 others(3): Show |
p.Glu others(3): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 1/82 | 307/14343 | 100/13551 | 34/4516 | chr7 | TogoVar | ||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
EIF3CL_chr16_28374715_28408841 | 28388130 | C | T | stop_gained | HIGH | HG00544.hp1 HG01106.hp1 HG01243.hp1 others(24): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0007a0002c0013others(5): Show | a0002c0002t0001a0002c0007t0001a0002c0013t0001others(5): Show | a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0029others(24): Show | 27 | 172 | 0.1570 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 15/21 | 1834/2913 | 1749/2745 | 583/914 | chr16 | TogoVar | ||
ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FLG_chr1_152297165_152330239 | 152304352 | G | A | stop_gained | HIGH | HG01243.hp1 HG01433.hp2 HG01884.hp2 others(55): Show |
a0006a0010a0012others(22): Show | a0006c0006a0006c0136a0010c0010others(25): Show | a0006c0006t0001a0006c0136t0001a0010c0010t0001others(25): Show | a0006c0006t0001g0003a0006c0136t0001g0124a0010c0010t0001g0026others(32): Show | 58 | 426 | 0.1362 | 0 | c.105 others(5): Show |
p.Gln others(5): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 10606/12793 | 10534/12186 | 3512/4061 | chr1 | TogoVar | ||
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
GCSAML_chr1_247544134_247582690 | 247556467 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01074.hp2 HG01123.hp2 HG01361.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0182a0001c0001t0001g0194a0001c0001t0001g0212others(10): Show | 22 | 412 | 0.0534 | 0 | c.89+ others(4): Show |
GCSAML | ENSG00000169224.13 | transcript | ENST00000366488.5 | protein_coding | 2/4 | chr1 | 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 | ||
GPC6_chr13_93221807_94413020 | 94382402 | T | TTTCTTGA others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 | 1 | 76 | 0.0132 | 10 | c.115 others(24): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr13 | 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 | ||
H6PD_chr1_9229774_9276337 | 9244919 | CCCCAGGC others(1): Show |
C | frameshift_variant others(1): Show |
HIGH | HG00140.hp2 HG00642.hp1 HG01255.hp1 others(37): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0004a0001c0020others(4): Show | a0001c0001t0008a0001c0001t0022a0001c0004t0005others(11): Show | a0001c0001t0008g0002a0001c0001t0008g0049a0001c0001t0008g0253others(28): Show | 40 | 404 | 0.0990 | -8 | c.-7_ others(12): Show |
p.Met others(3): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 2/5 | 297/9147 | 1/2376 | 1/791 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
HCFC1R1_chr16_3017625_3028942 | 3022899 | G | C | stop_gained | HIGH | NA19091.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0009 | 1 | 412 | 0.0024 | 0 | c.381 others(3): Show |
p.Tyr others(4): Show |
HCFC1R1 | ENSG00000103145.11 | transcript | ENST00000248089.8 | protein_coding | 4/4 | 382/656 | 381/417 | 127/138 | chr16 | TogoVar | ||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | 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 | ||
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 | ||
HSD17B2_chr16_82030253_82103534 | 82098435 | A | G | stop_lost | HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show |
a0000 | a0000c0002a0000c0004 | a0000c0002t0001a0000c0002t0002a0000c0004t0001 | a0000c0002t0001g0306a0000c0002t0001g0308a0000c0002t0001g0314others(16): Show | 20 | 366 | 0.0546 | 0 | c.116 others(4): Show |
p.Ter others(11): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 5/5 | 1335/1434 | 1163/1164 | 388/387 | chr16 | TogoVar | ||
IRS2_chr13_109747695_109791583 | 109782805 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(24): Show |
a0003a0004 | a0003c0008a0003c0010a0003c0012others(2): Show | a0003c0008t0002a0003c0008t0004a0003c0008t0009others(11): Show | a0003c0008t0002g0130a0003c0008t0002g0131a0003c0008t0002g0133others(24): Show | 27 | 398 | 0.0678 | 1 | c.324 others(5): Show |
p.Pro others(6): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/2 | 3778/8156 | 3248/4017 | 1083/1338 | chr13 | TogoVar | ||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | 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 | a0002c0002t0001g0057a0002c0002t0002g0007a0002c0002t0002g0018others(2): Show | 13 | 354 | 0.0367 | -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 | 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 | |||||
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 | |||||
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 | ||||||
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 | ||
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 | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
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 | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LPCAT3_chr12_6971185_7023476 | 6977132 | AC | A | splice_donor_variant others(1): Show |
HIGH | HG02258.hp1 HG02965.hp1 HG03486.hp1 others(16): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0001a0002c0004t0002g0005a0002c0004t0002g0026others(12): Show | 19 | 282 | 0.0674 | -1 | c.*12 others(6): Show |
LPCAT3 | ENSG00000111684.11 | transcript | ENST00000261407.9 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0027a0001c0002t0029others(78): Show | a0001c0002t0001g0199a0001c0002t0001g0243a0001c0002t0001g0253others(88): Show | 91 | 338 | 0.2692 | 4 | c.468 others(17): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr15 | 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 | ||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 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 | ||
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0000 | a0000c0005a0000c0006a0000c0010others(5): Show | a0000c0005t0001a0000c0006t0001a0000c0010t0001others(5): Show | a0000c0005t0001g0005a0000c0005t0001g0018a0000c0005t0001g0021others(28): Show | 103 | 439 | 0.2346 | -1 | c.953 others(4): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MID2_chrX_107820866_107936637 | 107905499 | G | GC | frameshift_variant | HIGH | NA19091.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0103 | 1 | 181 | 0.0055 | 1 | c.947 others(4): Show |
p.Gln others(5): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/10 | 1509/7333 | 948/2208 | 316/735 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MKI67_chr10_128091659_128131423 | 128116008 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19091.hp1 | a0007 | a0007c0007 | a0007c0007t0005 | a0007c0007t0005g0113 | 1 | 408 | 0.0025 | 0 | c.401 others(5): Show |
MKI67 | ENSG00000148773.14 | transcript | ENST00000368654.8 | protein_coding | 6/14 | chr10 | TogoVar |