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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132355821 | C | T | stop_gained | HIGH | HG02630.hp1 | a0007 | a0007c0016 | a0007c0016t0002 | a0007c0016t0002g0187 | 1 | 288 | 0.0035 | 0 | c.110 others(4): Show |
p.Arg others(4): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/11 | 1217/7971 | 1105/1593 | 369/530 | chr10 | 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 | ||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0028a0001c0002t0030others(78): Show | a0001c0002t0001g0199 a0001c0002t0001g0242 a0001c0002t0001g0252 others(88): Show |
91 | 336 | 0.2708 | 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(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 | |||
MAGEC3_chrX_141833316_141902832 | 141879368 | GCTACACC others(10): Show |
G | frameshift_variant | HIGH | HG00639.hp1 HG01175.hp2 HG01934.hp1 others(15): Show |
a0006 | a0006c0007a0006c0015a0006c0023others(2): Show | a0006c0007t0001a0006c0015t0001a0006c0023t0001others(2): Show | a0006c0007t0001g0017 a0006c0007t0001g0058 a0006c0007t0001g0073 others(14): Show |
18 | 296 | 0.0608 | -17 | c.455 others(24): Show |
p.Tyr others(5): Show |
MAGEC3 | ENSG00000165509.13 | transcript | ENST00000298296.1 | protein_coding | 3/8 | 455/1932 | 455/1932 | 152/643 | INFO_REALIGN_3_PRIME | chrX | 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 | |||
MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0002a0009a0012others(3): Show | a0002c0001a0009c0010a0012c0012others(3): Show | a0002c0001t0002a0002c0001t0003a0009c0010t0003others(4): Show | a0002c0001t0002g0029 a0002c0001t0003g0006 a0002c0001t0003g0009 others(21): Show |
86 | 325 | 0.2646 | 11 | c.952 others(18): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | |||
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show |
148 | 365 | 0.4055 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233823665 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(41): Show |
a0001a0002a0004others(12): Show | a0001c0035a0002c0003a0002c0016others(23): Show | a0001c0035t0001a0002c0003t0001a0002c0016t0001others(23): Show | a0001c0035t0001g0233 a0002c0003t0001g0109 a0002c0016t0001g0294 others(41): Show |
44 | 376 | 0.1170 | 0 | c.411 others(6): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 35/41 | chr2 | TogoVar | |||||||
MRPL42_chr12_93462514_93521214 | 93479377 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0135a0001c0001t0136others(2): Show | a0001c0001t0022g0026 a0001c0001t0022g0163 a0001c0001t0022g0165 others(4): Show |
7 | 385 | 0.0182 | 1 | c.135 others(6): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | 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 | |||
MYH15_chr3_108375368_108515596 | 108408405 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG01192.hp2 HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0055 a0001c0010t0001g0056 a0001c0010t0001g0057 |
3 | 304 | 0.0099 | 0 | c.449 others(6): Show |
MYH15 | ENSG00000144821.11 | transcript | ENST00000693548.1 | protein_coding | 31/40 | chr3 | TogoVar | |||||||
MYL1_chr2_210285150_210320174 | 210315041 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0004 | a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0061 others(7): Show |
12 | 394 | 0.0305 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/7 | 133/1049 | 1/585 | 1/194 | chr2 | TogoVar | |||
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0013a0097 | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(37): Show |
42 | 382 | 0.1099 | 1 | c.684 others(4): Show |
p.Pro others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 943/9914 | 685/9291 | 229/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYO15B_chr17_75582800_75631849 | 75589275 | G | A | stop_gained | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(34): Show |
a0003a0097 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(33): Show |
37 | 382 | 0.0969 | 0 | c.121 others(4): Show |
p.Trp others(4): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1476/9914 | 1218/9291 | 406/3096 | chr17 | TogoVar | |||
MYO15B_chr17_75582800_75631849 | 75596487 | CTG | C | frameshift_variant | HIGH | HG00738.hp1 HG01070.hp2 HG01109.hp1 others(20): Show |
a0003a0009a0013others(6): Show | a0003c0039a0003c0057a0003c0062others(17): Show | a0003c0039t0002a0003c0057t0002a0003c0062t0002others(17): Show | a0003c0039t0002g0074 a0003c0039t0002g0075 a0003c0057t0002g0048 others(19): Show |
23 | 382 | 0.0602 | -2 | c.332 others(11): Show |
p.Cys others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 13/64 | 3586/9914 | 3328/9291 | 1110/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0008 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005 a0004c0004t0003g0021 a0004c0004t0003g0034 others(10): Show |
59 | 450 | 0.1311 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | |||
NANOGP8_chr15_35078410_35090295 | 35084193 | TCA | T | frameshift_variant others(1): Show |
HIGH | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(13): Show |
a0005 | a0005c0005 | a0005c0005t0006a0005c0005t0027a0005c0005t0049 | a0005c0005t0006g0000 a0005c0005t0027g0000 a0005c0005t0049g0000 |
16 | 473 | 0.0338 | -2 | c.916 others(9): Show |
p.Ter others(5): Show |
NANOGP8 | ENSG00000255192.7 | transcript | ENST00000528386.4 | protein_coding | 1/1 | 1102/1886 | 916/918 | 306/305 | chr15 | TogoVar | |||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0006a0007others(78): Show | a0002c0001a0006c0004a0006c0019others(83): Show | a0002c0001t0001a0002c0001t0021a0002c0001t0022others(86): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0024 others(145): Show |
158 | 282 | 0.5603 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | |||||||
NBPF3_chr1_21435137_21489900 | 21474942 | TGTCTCCC others(2): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01099.hp1 HG01106.hp2 HG01346.hp1 others(17): Show |
a0004a0022 | a0004c0004a0004c0018a0022c0028 | a0004c0004t0005a0004c0018t0005a0022c0028t0007 | a0004c0004t0005g0013 a0004c0004t0005g0022 a0004c0004t0005g0060 others(14): Show |
20 | 392 | 0.0510 | -9 | c.986 others(18): Show |
p.Ser others(5): Show |
NBPF3 | ENSG00000142794.19 | transcript | ENST00000318249.10 | protein_coding | 8/15 | 1337/3767 | 986/1902 | 329/633 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | -2 | c.122 others(9): Show |
p.Arg others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 4/23 | 1094/7256 | 122/2829 | 41/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | 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 |
a0002a0003a0004others(6): Show | a0002c0001a0003c0006a0004c0003others(6): Show | a0002c0001t0053a0002c0001t0054a0003c0006t0005others(20): Show | a0002c0001t0053g0068 a0002c0001t0054g0065 a0003c0006t0005g0004 others(64): Show |
70 | 290 | 0.2414 | -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 | |||
NBPF9_chr1_149047186_149108551 | 149058873 | CCTATCTG others(3161): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(94): Show |
a0003a0004a0010others(5): Show | a0003c0003a0003c0027a0004c0004others(11): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0035others(33): Show | a0003c0003t0002g0005 a0003c0003t0002g0233 a0003c0003t0002g0235 others(88): Show |
97 | 342 | 0.2836 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | 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 | |||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | 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 | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835517 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG01934.hp1 HG01975.hp1 HG02559.hp2 others(4): Show |
a0004a0014a0035others(2): Show | a0004c0065a0014c0022a0014c0056others(3): Show | a0004c0065t0001a0014c0022t0001a0014c0056t0001others(3): Show | a0004c0065t0001g0090 a0014c0022t0001g0074 a0014c0022t0001g0075 others(4): Show |
7 | 196 | 0.0357 | -113 | c.275 others(9): Show |
p.Pro others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 3084/4020 | 2757/3669 | 919/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21835814 | GGTGGAAG others(132): Show |
G | frameshift_variant | HIGH | HG02630.hp2 | a0044 | a0044c0039 | a0044c0039t0001 | a0044c0039t0001g0040 | 1 | 197 | 0.0051 | -139 | c.243 others(9): Show |
p.Thr others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2787/4020 | 2434/3669 | 812/1222 | 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 | 21836142 | AGCGGCCC others(12): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(10): Show |
a0007a0014a0025others(3): Show | a0007c0008a0014c0022a0014c0056others(4): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(4): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(9): Show |
13 | 204 | 0.0637 | -19 | c.222 others(28): Show |
p.Val others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2459/4020 | 2226/3669 | 742/1222 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21836303 | ATTATCAT others(226): Show |
A | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00738.hp2 others(8): Show |
a0007a0014a0025others(1): Show | a0007c0008a0014c0022a0014c0056others(2): Show | a0007c0008t0001a0014c0022t0001a0014c0056t0001others(2): Show | a0007c0008t0001g0001 a0007c0008t0001g0081 a0007c0008t0001g0085 others(7): Show |
11 | 202 | 0.0545 | -233 | c.185 others(9): Show |
p.Phe others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 2298/4020 | 1851/3669 | 617/1222 | chr16 | TogoVar | |||
NPIPB7_chr16_28451329_28477336 | 28456526 | C | CCTCTGCC others(3): Show |
frameshift_variant | HIGH | HG00609.hp2 HG01891.hp1 HG02071.hp2 others(26): Show |
a0003a0012 | a0003c0003a0003c0005a0012c0018 | a0003c0003t0001a0003c0003t0014a0003c0005t0003others(1): Show | a0003c0003t0001g0027 a0003c0003t0001g0213 a0003c0003t0001g0224 others(23): Show |
29 | 380 | 0.0763 | 10 | c.113 others(19): Show |
p.Ala others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 3040/3238 | 1142/1245 | 381/414 | chr16 | TogoVar | |||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(131): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 others(131): Show |
134 | 347 | 0.3862 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | TogoVar | ||||||
NT5C1B_chr2_18557871_18594569 | 18586355 | G | A | stop_gained | HIGH | HG02630.hp2 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0191 | 1 | 390 | 0.0026 | 0 | c.157 others(3): Show |
p.Arg others(3): Show |
NT5C1B | ENSG00000185013.17 | transcript | ENST00000304081.9 | protein_coding | 3/9 | 258/2679 | 157/1653 | 53/550 | chr2 | TogoVar | |||
NUP214_chr9_131120586_131239663 | 131139255 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01496.hp2 HG01891.hp2 HG02145.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0003others(3): Show | a0001c0001t0001g0233 a0001c0005t0002g0205 a0001c0005t0002g0212 others(7): Show |
10 | 209 | 0.0478 | 1 | c.100 others(7): Show |
NUP214 | ENSG00000126883.19 | transcript | ENST00000359428.10 | protein_coding | 9/35 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
OOSP1_chr11_59933432_59962480 | 59945232 | C | T | stop_gained | HIGH | HG02630.hp1 HG03041.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 a0002c0002t0002g0049 |
2 | 384 | 0.0052 | 0 | c.322 others(3): Show |
p.Arg others(4): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 3/5 | 345/795 | 322/555 | 108/184 | chr11 | TogoVar | |||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 77 | 412 | 0.1869 | 1 | c.200 others(4): Show |
p.Ser others(4): Show |
OR10AD1 | ENSG00000172640.4 | transcript | ENST00000310248.4 | protein_coding | 1/1 | 200/954 | 200/954 | 67/317 | chr12 | TogoVar | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(154): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0023 others(97): Show |
157 | 418 | 0.3756 | 1 | c.41d others(3): Show |
p.Leu others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 574/1941 | 41/954 | 14/317 | chr9 | TogoVar | |||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | |||
OR2B11_chr1_247444182_247463104 | 247451959 | GA | G | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(71): Show | a0001c0002t0001g0001 a0001c0002t0001g0046 a0001c0002t0001g0115 others(79): Show |
220 | 476 | 0.4622 | -1 | c.23d others(3): Show |
p.Phe others(3): Show |
OR2B11 | ENSG00000177535.10 | transcript | ENST00000641149.2 | protein_coding | 2/2 | 3571/6349 | 23/954 | 8/317 | chr1 | TogoVar | |||
OR2L8_chr1_247943858_247954796 | 247949724 | T | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0006t0001g0000 others(4): Show |
276 | 378 | 0.7302 | 0 | c.867 others(3): Show |
p.Tyr others(4): Show |
OR2L8 | ENSG00000279263.1 | transcript | ENST00000623922.1 | protein_coding | 1/1 | 867/939 | 867/939 | 289/312 | chr1 | TogoVar | |||
OR2W3_chr1_247890587_247901531 | 247896477 | G | GA | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG01081.hp1 others(32): Show |
a0004a0021 | a0004c0005a0004c0028a0021c0026 | a0004c0005t0001a0004c0028t0001a0021c0026t0001 | a0004c0005t0001g0000 a0004c0028t0001g0000 a0021c0026t0001g0000 |
35 | 386 | 0.0907 | 1 | c.893 others(4): Show |
p.Ala others(5): Show |
OR2W3 | ENSG00000238243.3 | transcript | ENST00000360358.3 | protein_coding | 1/1 | 894/945 | 894/945 | 298/314 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
OR4D10_chr11_59468315_59484361 | 59478120 | G | T | stop_gained | HIGH | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(39): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0002c0002t0007a0002c0002t0013others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0035 others(4): Show |
42 | 428 | 0.0981 | 0 | c.691 others(3): Show |
p.Glu others(4): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 3/3 | 1241/2482 | 691/936 | 231/311 | chr11 | TogoVar | |||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(223): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0004a0002c0005others(7): Show | a0002c0002t0001a0002c0004t0001a0002c0005t0001others(7): Show | a0002c0002t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(7): Show |
226 | 400 | 0.5650 | 0 | c.819 others(3): Show |
p.Tyr others(4): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 1/1 | 819/918 | 819/918 | 273/305 | chr11 | TogoVar | |||
OR51A4_chr11_4937831_4952605 | 4946398 | GCTCCTTT others(6200): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(16): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0014 | a0003c0003t0006g0006 a0003c0003t0014g0013 |
19 | 436 | 0.0436 | -6207 | c.-51 others(9): Show |
OR51A4 | ENSG00000205497.5 | transcript | ENST00000641898.1 | protein_coding | 1/2 | 825/4393 | chr11 | TogoVar |