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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HCFC1_chrX_153942557_153976818 | 153962270 | A | AC | frameshift_variant | HIGH | HG02027.hp1 HG02071.hp1 HG02572.hp1 others(5): Show |
a0003 | a0003c0007a0003c0011a0003c0014 | a0003c0007t0001a0003c0011t0002a0003c0011t0008others(1): Show | a0003c0007t0001g0016a0003c0007t0001g0043a0003c0007t0001g0048others(4): Show | 8 | 268 | 0.0299 | 1 | c.748 others(4): Show |
p.Val others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 5/26 | 1726/8876 | 748/6108 | 250/2035 | chrX | 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 | ||
HLA-B_chr6_31348875_31362179 | 31356366 | G | T | stop_gained | HIGH | HG00438.hp2 HG00621.hp2 HG01074.hp1 others(44): Show |
a0014a0018a0024others(7): Show | a0014c0014a0018c0016a0024c0023others(7): Show | a0014c0014t0010a0014c0014t0036a0018c0016t0006others(9): Show | a0014c0014t0010g0020a0014c0014t0010g0063a0014c0014t0036g0110others(13): Show | 47 | 468 | 0.1004 | 0 | c.420 others(3): Show |
p.Tyr others(4): Show |
HLA-B | ENSG00000234745.14 | transcript | ENST00000412585.7 | protein_coding | 3/8 | 441/1536 | 420/1089 | 140/362 | chr6 | 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-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584174 | GCC | G | frameshift_variant | HIGH | HG00280.hp2 HG01993.hp1 HG02071.hp1 others(9): Show |
a0014a0018a0020 | a0014c0015a0018c0018a0020c0021 | a0014c0015t0008a0018c0018t0008a0020c0021t0001others(1): Show | a0014c0015t0008g0028a0014c0015t0008g0066a0014c0015t0008g0067others(8): Show | 12 | 208 | 0.0577 | -2 | c.303 others(9): Show |
p.Ala others(5): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 410/1223 | 303/801 | 101/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584184 | G | GTC | frameshift_variant | HIGH | HG00280.hp2 HG01993.hp1 HG02071.hp1 others(9): Show |
a0014a0018a0020 | a0014c0015a0018c0018a0020c0021 | a0014c0015t0008a0018c0018t0008a0020c0021t0001others(1): Show | a0014c0015t0008g0028a0014c0015t0008g0066a0014c0015t0008g0067others(8): Show | 12 | 208 | 0.0577 | 2 | c.294 others(9): Show |
p.Gln others(4): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 400/1223 | 294/801 | 98/266 | 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 | ||
HOMER3_chr19_18924203_18946217 | 18929445 | A | G | stop_lost | HIGH | NA18955.hp2 NA18964.hp2 NA18985.hp1 others(2): Show |
a0000 | a0000c0006 | a0000c0006t0001 | a0000c0006t0001g0045a0000c0006t0001g0157a0000c0006t0001g0159others(1): Show | 5 | 412 | 0.0121 | 0 | c.108 others(4): Show |
p.Ter others(11): Show |
HOMER3 | ENSG00000051128.19 | transcript | ENST00000392351.8 | protein_coding | 10/10 | 1318/1560 | 1084/1086 | 362/361 | chr19 | 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 | ||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | ||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
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 | ||
IQCH_chr15_67249786_67506804 | 67279510 | AAGGTAGG others(3): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA18989.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0007 | 1 | 276 | 0.0036 | -10 | c.387 others(22): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
KANK2_chr19_11159270_11202545 | 11193579 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show |
a0002a0004a0013 | a0002c0014a0002c0019a0004c0006others(2): Show | a0002c0014t0001a0002c0014t0007a0002c0019t0002others(5): Show | a0002c0014t0001g0197a0002c0014t0007g0196a0002c0019t0002g0344others(7): Show | 10 | 394 | 0.0254 | 1 | c.500 others(4): Show |
p.Thr others(5): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/13 | 839/5183 | 500/2556 | 167/851 | chr19 | TogoVar | ||
KANK2_chr19_11159270_11202545 | 11193874 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00735.hp1 HG01358.hp1 others(16): Show |
a0002 | a0002c0004a0002c0005a0002c0011others(3): Show | a0002c0004t0001a0002c0004t0004a0002c0004t0005others(11): Show | a0002c0004t0001g0327a0002c0004t0004g0201a0002c0004t0005g0198others(16): Show | 19 | 394 | 0.0482 | 1 | c.205 others(4): Show |
p.Arg others(4): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/13 | 544/5183 | 205/2556 | 69/851 | chr19 | 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 | |||||
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 | |||||
KRTAP10-11_chr21_44641414_44652650 | 44647292 | C | A | stop_gained | HIGH | NA18989.hp1 | a0017 | a0017c0021 | a0017c0021t0001 | a0017c0021t0001g0000 | 1 | 422 | 0.0024 | 0 | c.834 others(3): Show |
p.Cys others(4): Show |
KRTAP10-11 | ENSG00000243489.4 | transcript | ENST00000334670.9 | protein_coding | 1/1 | 879/1237 | 834/897 | 278/298 | 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 | ||
KRTAP4-8_chr17_41091981_41103142 | 41097963 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01255.hp2 others(10): Show |
a0005a0008a0010others(1): Show | a0005c0005a0008c0009a0010c0014others(1): Show | a0005c0005t0002a0008c0009t0003a0010c0014t0004others(1): Show | a0005c0005t0002g0000a0008c0009t0003g0000a0010c0014t0004g0000others(1): Show | 13 | 416 | 0.0313 | 1 | c.121 others(4): Show |
p.Arg others(4): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 179/1162 | 121/558 | 41/185 | 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 | ||
KRTAP5-4_chr11_1615958_1627138 | 1621779 | C | CCCACAGG others(174): Show |
frameshift_variant | HIGH | NA18989.hp2 | a0011 | a0011c0015 | a0011c0015t0005 | a0011c0015t0005g0000 | 1 | 427 | 0.0023 | 181 | c.314 others(188): Show |
p.Ser others(5): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 359/1181 | 314/687 | 105/228 | chr11 | 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 |
a0002a0006a0010others(19): Show | a0002c0010a0002c0012a0002c0020others(23): Show | a0002c0010t0002a0002c0012t0002a0002c0012t0028others(27): Show | a0002c0010t0002g0081a0002c0010t0002g0151a0002c0010t0002g0205others(44): Show | 47 | 360 | 0.1306 | 31 | c.289 others(45): Show |
LAMC3 | ENSG00000050555.19 | transcript | ENST00000361069.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | 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 | 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 | ||
LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0013 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0070a0003c0004t0001g0076a0003c0004t0001g0077others(20): Show | 23 | 316 | 0.0728 | 1 | c.449 others(4): Show |
p.Thr others(5): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 2/28 | 849/4833 | 449/3912 | 150/1303 | chr11 | TogoVar | ||
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 | ||
MAP7D2_chrX_20001713_20121907 | 20016118 | T | TTG | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 2 | c.161 others(11): Show |
p.Gln others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1647/4062 | 1619/2322 | 540/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016137 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.160 others(10): Show |
p.Lys others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1628/4062 | 1600/2322 | 534/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016203 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.153 others(5): Show |
p.Glu others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1562/4062 | 1534/2322 | 512/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016217 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.152 others(10): Show |
p.Gln others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1548/4062 | 1520/2322 | 507/773 | chrX | TogoVar | ||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -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 | ||
MEF2B_chr19_19140567_19175263 | 19147006 | CTCACCCC others(40): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0240 | 1 | 404 | 0.0025 | -47 | c.524 others(57): Show |
p.Pro others(19): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 524/1107 | 175/368 | chr19 | TogoVar | |||
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(2): Show | a0000c0008t0004a0000c0009t0005a0000c0012t0004others(2): Show | a0000c0008t0004g0008a0000c0008t0004g0067a0000c0008t0004g0068others(21): Show | 46 | 439 | 0.1048 | -4 | c.953 others(11): 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 | |
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 | |
MIPEP_chr13_23725189_23894400 | 23858858 | A | T | splice_donor_variant others(1): Show |
HIGH | NA18941.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154a0001c0001t0001g0186 | 2 | 306 | 0.0065 | 0 | c.110 others(6): Show |
MIPEP | ENSG00000027001.10 | transcript | ENST00000382172.4 | protein_coding | 10/18 | chr13 | TogoVar | ||||||
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
a0002a0006a0009others(8): Show | a0002c0004a0002c0027a0002c0029others(17): Show | a0002c0004t0002a0002c0027t0002a0002c0029t0002others(17): Show | a0002c0004t0002g0002a0002c0004t0002g0004a0002c0004t0002g0011others(89): Show | 98 | 396 | 0.2475 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | TogoVar | ||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | chr11 | TogoVar | ||
MTA1_chr14_105414827_105475729 | 105466438 | G | GC | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(21): Show |
a0004a0005 | a0004c0003a0005c0005 | a0004c0003t0001a0005c0005t0001 | a0004c0003t0001g0033a0004c0003t0001g0035a0004c0003t0001g0072others(21): Show | 24 | 304 | 0.0790 | 1 | c.164 others(5): Show |
p.Lys others(5): Show |
MTA1 | ENSG00000182979.18 | transcript | ENST00000331320.12 | protein_coding | 17/21 | 1854/2871 | 1645/2148 | 549/715 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(3240): Show |
frameshift_variant others(1): Show |
HIGH | NA18989.hp2 | a0061 | a0061c0255 | a0061c0255t0001 | a0061c0255t0001g0045 | 1 | 342 | 0.0029 | 3247 | c.137 others(3258): Show |
p.Arg others(6): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(10963): Show |
frameshift_variant others(1): Show |
HIGH | NA18989.hp1 | a0146 | a0146c0122 | a0146c0122t0001 | a0146c0122t0001g0119 | 1 | 406 | 0.0025 | 10970 | c.481 others(10979): Show |
p.His others(6): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0002 | a0002c0001a0002c0009a0002c0013others(7): Show | a0002c0001t0001a0002c0001t0009a0002c0001t0010others(21): Show | a0002c0001t0001g0005a0002c0001t0001g0119a0002c0001t0001g0121others(71): Show | 75 | 292 | 0.2569 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0001a0003a0006others(3): Show | a0001c0007a0001c0019a0001c0021others(7): Show | a0001c0007t0007a0001c0007t0019a0001c0007t0057others(20): Show | a0001c0007t0007g0003a0001c0007t0007g0084a0001c0007t0007g0085others(64): Show | 70 | 292 | 0.2397 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0009others(29): Show | a0002c0003a0002c0022a0002c0054others(38): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(48): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(140): Show | 145 | 428 | 0.3388 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar |