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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | 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 | |||
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 | |||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0006a0010 | a0002c0002a0002c0008a0006c0009others(1): Show | a0002c0002t0001a0002c0008t0001a0006c0009t0001others(1): Show | a0002c0002t0001g0000 a0002c0008t0001g0000 a0006c0009t0001g0000 others(1): Show |
121 | 460 | 0.2630 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | |||
KRTAP2-2_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 | |||
KRTAP4-16_chr17_41096502_41107209 | 41101539 | TGAGGG | T | frameshift_variant | HIGH | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 12 | 415 | 0.0289 | -5 | c.666 others(12): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 670/708 | 666/708 | 222/235 | 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 | |||
LAIR2_chr19_54497831_54515687 | 54510567 | T | A | stop_lost | HIGH | HG01081.hp1 HG03831.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0059 a0001c0001t0008g0100 |
3 | 474 | 0.0063 | 0 | c.457 others(3): Show |
p.Ter others(11): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 5/5 | 545/665 | 457/459 | 153/152 | chr19 | 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 | ||||||
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 | |||
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 | |||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 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 |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 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 | |||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0003a0004a0005 | a0003c0003a0003c0015a0003c0016others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0015t0001others(11): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 others(43): Show |
52 | 312 | 0.1667 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48499794 | T | TG | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(8): Show |
a0005 | a0005c0008a0005c0009a0005c0038others(1): Show | a0005c0008t0001a0005c0009t0001a0005c0038t0001others(1): Show | a0005c0008t0001g0088 a0005c0008t0001g0129 a0005c0008t0001g0155 others(8): Show |
11 | 312 | 0.0353 | 1 | c.127 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 1533/5144 | 1274/4383 | 425/1460 | chr19 | TogoVar | |||
LOC122455342_chr17_76563797_76574648 | 76569083 | T | TG | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0000 a0002c0004t0001g0000 |
21 | 438 | 0.0479 | 1 | c.565 others(4): Show |
p.His others(5): Show |
LOC122455342 | ENSG00000284526.3 | transcript | ENST00000713548.1 | protein_coding | 1/1 | 565/852 | 565/852 | 189/283 | chr17 | TogoVar | |||
LOXHD1_chr18_46472273_46662220 | 46657032 | A | T | start_lost | HIGH | HG00738.hp2 HG01516.hp1 HG01517.hp2 others(5): Show |
a0007a0013 | a0007c0016a0007c0017a0007c0029others(3): Show | a0007c0016t0002a0007c0017t0002a0007c0029t0002others(3): Show | a0007c0016t0002g0001 a0007c0017t0002g0004 a0007c0017t0002g0005 others(4): Show |
8 | 268 | 0.0299 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LOXHD1 | ENSG00000167210.17 | transcript | ENST00000642948.1 | protein_coding | 1/41 | 189/7208 | 2/6822 | 1/2273 | chr18 | TogoVar | |||
LRRIQ1_chr12_85031351_85250105 | 85244867 | GA | G | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0004a0004c0008others(2): Show | a0002c0003t0001a0003c0004t0001a0004c0008t0001others(2): Show | a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 others(50): Show |
53 | 225 | 0.2356 | -1 | c.510 others(5): Show |
p.Asn others(6): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 27/27 | 5186/5414 | 5105/5169 | 1702/1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0011 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0069 a0003c0004t0001g0075 a0003c0004t0001g0076 others(20): Show |
23 | 313 | 0.0735 | 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 |
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 | |||
MEF2B_chr19_19140567_19175263 | 19147121 | A | T | stop_gained | HIGH | HG03831.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0197 | 1 | 402 | 0.0025 | 0 | c.456 others(3): Show |
p.Cys others(4): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 544/1425 | 456/1107 | 152/368 | chr19 | TogoVar | |||
METTL9_chr16_21594577_21662471 | 21612623 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 others(25): Show |
35 | 354 | 0.0989 | 1 | c.166 others(6): Show |
METTL9 | ENSG00000197006.15 | transcript | ENST00000358154.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0001a0005a0008others(4): Show | a0001c0002a0005c0006a0005c0022others(5): Show | a0001c0002t0001a0005c0006t0001a0005c0022t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0032 others(27): Show |
103 | 438 | 0.2352 | -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 | ||
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0003a0004a0013others(1): Show | a0003c0003a0004c0005a0004c0013others(2): Show | a0003c0003t0001a0003c0003t0006a0004c0005t0001others(4): Show | a0003c0003t0001g0001 a0003c0003t0001g0012 a0003c0003t0001g0020 others(34): Show |
113 | 352 | 0.3210 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | |||
MIIP_chr1_12014498_12037045 | 12029821 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG02055.hp2 others(8): Show |
a0007a0009a0010 | a0007c0007a0009c0010a0010c0011 | a0007c0007t0001a0007c0007t0006a0009c0010t0001others(1): Show | a0007c0007t0001g0001 a0007c0007t0001g0009 a0007c0007t0001g0038 others(7): Show |
11 | 412 | 0.0267 | 1 | c.777 others(4): Show |
p.Cys others(5): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 7/10 | 915/1541 | 778/1167 | 260/388 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
MLC1_chr22_50054391_50090426 | 50064040 | A | AGCACCCC others(25): Show |
frameshift_variant | HIGH | HG03831.hp1 | a0005 | a0005c0008 | a0005c0008t0008 | a0005c0008t0008g0119 | 1 | 206 | 0.0049 | 32 | c.105 others(41): Show |
p.Ala others(5): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 11/12 | 1183/3457 | 1052/1134 | 351/377 | chr22 | TogoVar | |||
MPZL2_chr11_118248416_118269297 | 118263090 | C | T | stop_gained | HIGH | HG03831.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0047 | 1 | 414 | 0.0024 | 0 | c.66G others(2): Show |
p.Trp others(3): Show |
MPZL2 | ENSG00000149573.9 | transcript | ENST00000278937.7 | protein_coding | 2/6 | 210/2622 | 66/648 | 22/215 | chr11 | TogoVar | |||
MROH6_chr8_143561192_143577772 | 143567371 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show |
a0004a0006a0014others(4): Show | a0004c0004a0004c0030a0006c0007others(6): Show | a0004c0004t0003a0004c0004t0012a0004c0004t0026others(8): Show | a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0042 others(19): Show |
37 | 436 | 0.0849 | 1 | c.202 others(5): Show |
p.Cys others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 14/14 | 2085/3265 | 2027/2160 | 676/719 | chr8 | TogoVar | |||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show |
180 | 430 | 0.4186 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | |||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
251 | 426 | 0.5892 | -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 | a0004c0003t0001g0039 a0004c0003t0001g0041 a0004c0003t0001g0078 others(21): Show |
24 | 302 | 0.0795 | 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 | ||
MUC13_chr3_124900442_124939751 | 124927969 | TCAGCTGA others(37): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG03831.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0222 | 1 | 450 | 0.0022 | -44 | c.53- others(52): Show |
p.Ala others(11): Show |
MUC13 | ENSG00000173702.7 | transcript | ENST00000616727.4 | protein_coding | 2/12 | 115/2879 | 53/1539 | 18/512 | chr3 | TogoVar | |||
MYO15A_chr17_18103756_18184800 | 18122105 | A | AG | frameshift_variant | HIGH | HG00621.hp1 HG00621.hp2 HG01099.hp1 others(9): Show |
a0009a0033a0034others(3): Show | a0009c0016a0009c0026a0009c0044others(5): Show | a0009c0016t0001a0009c0026t0004a0009c0044t0005others(5): Show | a0009c0016t0001g0150 a0009c0016t0001g0180 a0009c0016t0001g0234 others(9): Show |
12 | 326 | 0.0368 | 1 | c.331 others(5): Show |
p.Glu others(6): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 2/66 | 3600/11811 | 3312/10593 | 1104/3530 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYO3A_chr10_25929229_26217532 | 26193249 | C | T | stop_gained | HIGH | HG03831.hp1 | a0028 | a0028c0037 | a0028c0037t0001 | a0028c0037t0001g0013 | 1 | 278 | 0.0036 | 0 | c.448 others(4): Show |
p.Arg others(5): Show |
MYO3A | ENSG00000095777.17 | transcript | ENST00000642920.2 | protein_coding | 32/35 | 4687/5624 | 4483/4851 | 1495/1616 | chr10 | TogoVar | |||
MZT2A_chr2_131478960_131497397 | 131492343 | AC | A | frameshift_variant | HIGH | HG01069.hp2 HG01074.hp2 HG01175.hp2 others(31): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(2): Show | a0002c0002t0001a0002c0004t0001a0002c0006t0001others(2): Show | a0002c0002t0001g0008 a0002c0002t0001g0019 a0002c0002t0001g0020 others(14): Show |
34 | 388 | 0.0876 | -1 | c.33d others(3): Show |
p.Ser others(4): Show |
MZT2A | ENSG00000173272.16 | transcript | ENST00000309451.7 | protein_coding | 1/3 | 54/599 | 33/477 | 11/158 | chr2 | TogoVar | |||
NBPF19_chr1_149470045_149561361 | 149536375 | TTAGACAG others(9477): Show |
T | exon_loss_variant | HIGH | HG01074.hp2 HG03831.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0006 a0001c0001t0010g0051 |
3 | 274 | 0.0109 | -9484 | c.858 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 72/94 | 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(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -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 | |||
NEMP1_chr12_57050643_57083791 | 57078744 | A | G | start_lost | HIGH | HG03831.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0056 | 1 | 396 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
NEMP1 | ENSG00000166881.10 | transcript | ENST00000300128.9 | protein_coding | 1/9 | 48/5617 | 2/1335 | 1/444 | chr12 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383165 | G | GC | frameshift_variant | HIGH | HG00673.hp2 HG02027.hp2 HG02074.hp1 others(9): Show |
a0005a0012a0025others(4): Show | a0005c0018a0012c0011a0025c0036others(4): Show | a0005c0018t0002a0012c0011t0001a0025c0036t0001others(4): Show | a0005c0018t0002g0329 a0012c0011t0001g0078 a0012c0011t0001g0079 others(8): Show |
12 | 426 | 0.0282 | 1 | c.176 others(10): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4513/6369 | 1766/3486 | 589/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383416 | GCCCCCGC others(120): Show |
G | frameshift_variant | HIGH | HG02027.hp2 HG02074.hp1 HG03831.hp2 others(1): Show |
a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0078 a0012c0011t0001g0079 a0012c0011t0001g0081 others(1): Show |
4 | 421 | 0.0095 | -127 | c.138 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4262/6369 | 1389/3486 | 463/1161 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835630 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(12): Show |
a0004a0022a0051 | a0004c0006a0004c0015a0004c0064others(2): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(2): Show | a0004c0006t0001g0002 a0004c0006t0001g0108 a0004c0006t0001g0115 others(11): Show |
15 | 204 | 0.0735 | 13 | c.274 others(22): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2971/4020 | 2756/3669 | 919/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0007a0014others(14): Show | a0004c0006a0004c0015a0004c0064others(18): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(18): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(36): Show |
41 | 204 | 0.2010 | -13 | c.249 others(22): Show |
p.Glu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2719/4020 | 2492/3669 | 831/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836177 | ATTATCAT others(352): Show |
A | frameshift_variant | HIGH | HG03831.hp1 | a0050 | a0050c0042 | a0050c0042t0001 | a0050c0042t0001g0140 | 1 | 198 | 0.0051 | -359 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2424/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836268 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(16): Show |
a0004a0022a0046 | a0004c0006a0004c0015a0004c0064others(3): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(3): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(15): Show |
19 | 204 | 0.0931 | -19 | c.210 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2333/4020 | 2100/3669 | 700/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836413 | CAGCAGGT others(100): Show |
C | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp1 HG01255.hp1 others(17): Show |
a0004a0022a0034others(2): Show | a0004c0006a0004c0015a0004c0064others(5): Show | a0004c0006t0001a0004c0015t0001a0004c0064t0001others(5): Show | a0004c0006t0001g0002 a0004c0006t0001g0044 a0004c0006t0001g0094 others(16): Show |
20 | 204 | 0.0980 | -107 | c.186 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2188/4020 | 1867/3669 | 623/1222 | chr16 | TogoVar |