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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAGED4B_chrX_52056827_52074183 | 52067679 | TC | T | frameshift_variant | HIGH | NA19062.hp1 | a0009 | a0009c0005 | a0009c0005t0001 | a0009c0005t0001g0057 | 1 | 216 | 0.0046 | -1 | c.229 others(4): Show |
p.Glu others(4): Show |
MAGED4B | ENSG00000187243.17 | transcript | ENST00000335504.10 | protein_coding | 3/13 | 314/2513 | 229/2226 | 77/741 | 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 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0000 | a0000c0002a0000c0004a0000c0014others(2): Show | a0000c0002t0001a0000c0002t0006a0000c0004t0001others(4): Show | a0000c0002t0001g0001a0000c0002t0001g0012a0000c0002t0001g0020others(34): Show | 113 | 439 | 0.2574 | 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 | ||
MID2_chrX_107820866_107936637 | 107917726 | C | CG | frameshift_variant | HIGH | NA19062.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0110 | 1 | 181 | 0.0055 | 1 | c.142 others(5): Show |
p.Ala others(5): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 7/10 | 1988/7333 | 1427/2208 | 476/735 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | 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 | ||
MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show | 31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
NARF_chr17_82453741_82495537 | 82485576 | A | AACATCCA others(37): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0123 | 1 | 356 | 0.0028 | 44 | c.106 others(53): Show |
p.Asn others(5): Show |
NARF | ENSG00000141562.19 | transcript | ENST00000309794.16 | protein_coding | 10/11 | 1125/3814 | 1062/1371 | 354/456 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
NAT8L_chr4_2054327_2074089 | 2059664 | G | GC | frameshift_variant | HIGH | HG01175.hp2 HG01192.hp1 HG01255.hp1 others(11): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(7): Show | a0002c0003t0001g0001a0002c0003t0001g0031a0002c0003t0002g0002others(9): Show | 14 | 378 | 0.0370 | 1 | c.159 others(4): Show |
p.Ala others(4): Show |
NAT8L | ENSG00000185818.8 | transcript | ENST00000423729.3 | protein_coding | 1/3 | 345/6056 | 160/909 | 54/302 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
NBPF10_chr1_146059711_146149804 | 146068092 | T | TAACCTGA others(6261): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp1 | a0034 | a0034c0228 | a0034c0228t0003 | a0034c0228t0003g0274 | 1 | 283 | 0.0035 | 6268 | c.109 others(6279): Show |
p.Tyr others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 88/90 | 10980/13030 | 10945/11388 | 3649/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146074347 | AGTCAGTT others(3187): Show |
A | exon_loss_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144a0089c0099t0006g0142a0090c0097t0006g0141others(2): Show | 5 | 283 | 0.0177 | -3194 | c.949 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 79/90 | 10036/13030 | chr1 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146077543 | AGG | A | frameshift_variant | HIGH | HG02486.hp1 HG02683.hp2 HG03225.hp1 others(2): Show |
a0087a0089a0090others(2): Show | a0087c0098a0089c0099a0090c0097others(2): Show | a0087c0098t0006a0089c0099t0006a0090c0097t0006others(2): Show | a0087c0098t0006g0144a0089c0099t0006g0142a0090c0097t0006g0141others(2): Show | 5 | 283 | 0.0177 | -2 | c.949 others(11): Show |
p.Pro others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 76/90 | 9529/13030 | 9493/11388 | 3165/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146078626 | TCATCAAA others(14168): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0089 | a0089c0099 | a0089c0099t0006 | a0089c0099t0006g0142 | 1 | 283 | 0.0035 | -14175 | c.715 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146107471 | C | CTGCAAGA others(4726): Show |
frameshift_variant others(1): Show |
HIGH | NA19062.hp1 | a0034 | a0034c0228 | a0034c0228t0003 | a0034c0228t0003g0274 | 1 | 283 | 0.0035 | 4733 | c.482 others(4742): Show |
p.His others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 38/90 | 4861/13030 | 4826/11388 | 1609/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146136989 | CATAAGGC others(6289): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG00558.hp2 HG00597.hp2 others(58): Show |
a0004a0007a0013others(42): Show | a0004c0004a0007c0022a0007c0023others(48): Show | a0004c0004t0003a0007c0022t0003a0007c0023t0003others(48): Show | a0004c0004t0003g0168a0004c0004t0003g0175a0004c0004t0003g0195others(57): Show | 61 | 283 | 0.2156 | -6296 | c.176 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 6/90 | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149515512 | TAGAAATC others(33208): Show |
T | exon_loss_variant | HIGH | NA19062.hp2 | a0156 | a0156c0099 | a0156c0099t0001 | a0156c0099t0001g0013 | 1 | 276 | 0.0036 | -33215 | c.532 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 45/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149521269 | CGGTTTCT others(4744): Show |
C | exon_loss_variant | HIGH | HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show |
a0026a0113a0201others(1): Show | a0026c0030a0113c0134a0201c0063others(1): Show | a0026c0030t0001a0113c0134t0001a0201c0063t0002others(1): Show | a0026c0030t0001g0030a0026c0030t0001g0035a0113c0134t0001g0065others(2): Show | 5 | 276 | 0.0181 | -4751 | c.633 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/94 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
NCAPH2_chr22_50503224_50529780 | 50522253 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0013a0001c0001t0002g0022others(59): Show | 86 | 384 | 0.2240 | 0 | c.123 others(6): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 14/19 | chr22 | 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 | 29383165 | G | GC | frameshift_variant | HIGH | HG00673.hp2 HG02027.hp2 HG02074.hp1 others(9): Show |
a0018a0039a0047others(4): Show | a0018c0017a0039c0035a0047c0153others(5): Show | a0018c0017t0001a0039c0035t0001a0047c0153t0001others(5): Show | a0018c0017t0001g0078a0018c0017t0001g0079a0018c0017t0001g0081others(8): Show | 12 | 428 | 0.0280 | 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 | 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 | ||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0009a0026others(12): Show | a0002c0003a0002c0022a0002c0054others(18): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(23): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(69): Show | 72 | 428 | 0.1682 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar | ||
NPIPB11_chr16_29376310_29411711 | 29383416 | GCCCCCGC others(246): Show |
G | frameshift_variant | HIGH | NA19062.hp1 | a0120 | a0120c0129 | a0120c0129t0002 | a0120c0129t0002g0329 | 1 | 428 | 0.0023 | -253 | c.126 others(9): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4262/6369 | 1263/3486 | 421/1161 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30223954 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG00323.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0027a0038others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(28): Show | 31 | 145 | 0.2138 | -113 | c.237 others(9): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5234/6292 | 2379/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0002a0003a0004others(28): Show | a0002c0003a0002c0007a0002c0008others(39): Show | a0002c0003t0001a0002c0007t0007a0002c0007t0015others(50): Show | a0002c0003t0001g0059a0002c0003t0001g0061a0002c0003t0001g0068others(81): Show | 84 | 145 | 0.5793 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | ||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0004a0001c0018others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(72): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(120): Show | 123 | 145 | 0.8483 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | ||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -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 | ||
NT5C1B_chr2_18557871_18594569 | 18584890 | G | T | stop_gained | HIGH | HG01106.hp1 HG01192.hp1 HG01255.hp1 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003a0002c0003t0002g0009a0002c0003t0002g0020others(12): Show | 33 | 392 | 0.0842 | 0 | c.347 others(3): Show |
p.Ser others(4): Show |
NT5C1B | ENSG00000185013.17 | transcript | ENST00000304081.9 | protein_coding | 4/9 | 448/2679 | 347/1653 | 116/550 | chr2 | TogoVar | ||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
OR10AD1_chr12_48197339_48208292 | 48203092 | C | CA | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show |
a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 77 | 414 | 0.1860 | 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 | ||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(101): Show | 275 | 482 | 0.5705 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
OR1B1_chr9_122623125_122662627 | 122628962 | G | A | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0002c0017others(2): Show | a0002c0002t0002a0002c0002t0012a0002c0016t0002others(3): Show | a0002c0002t0002g0001a0002c0002t0002g0007a0002c0002t0002g0021others(81): Show | 161 | 420 | 0.3833 | 0 | c.571 others(3): Show |
p.Arg others(4): Show |
OR1B1 | ENSG00000280094.3 | transcript | ENST00000623530.2 | protein_coding | 2/2 | 1104/1941 | 571/954 | 191/317 | chr9 | TogoVar | ||
OR1B1_chr9_122623125_122662627 | 122629491 | C | CA | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(155): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0023others(98): Show | 158 | 420 | 0.3762 | 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 |
a0000 | a0000c0001a0000c0006a0000c0010others(1): Show | a0000c0001t0001a0000c0001t0006a0000c0001t0010others(3): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0007others(13): Show | 226 | 460 | 0.4913 | 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 | ||
OR2T12_chr1_248285139_248308424 | 248294830 | TAA | T | frameshift_variant | HIGH | HG01109.hp2 HG01928.hp2 HG02074.hp1 others(10): Show |
a0005 | a0005c0005 | a0005c0005t0003a0005c0005t0023 | a0005c0005t0003g0005a0005c0005t0003g0053a0005c0005t0003g0055others(1): Show | 13 | 406 | 0.0320 | -2 | c.747 others(9): Show |
p.Phe others(5): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3/3 | 1016/5708 | 747/963 | 249/320 | chr1 | TogoVar | ||
OR4D6_chr11_59451961_59462905 | 59457656 | GC | G | frameshift_variant | HIGH | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
a0005a0010 | a0005c0005a0010c0011 | a0005c0005t0000a0010c0011t0000 | a0005c0005t0000g0000a0010c0011t0000g0000 | 23 | 422 | 0.0545 | -1 | c.697 others(4): Show |
p.Arg others(5): Show |
OR4D6 | ENSG00000166884.3 | transcript | ENST00000300127.3 | protein_coding | 1/1 | 697/945 | 697/945 | 233/314 | chr11 | TogoVar | ||
OR4P4_chr11_55630113_55645309 | 55638546 | C | G | stop_gained | HIGH | HG00099.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0008g0001 | 61 | 224 | 0.2723 | 0 | c.189 others(3): Show |
p.Tyr others(3): Show |
OR4P4 | ENSG00000181927.4 | transcript | ENST00000641760.1 | protein_coding | 2/2 | 323/2086 | 189/939 | 63/312 | chr11 | TogoVar | ||
OR4X1_chr11_48258861_48269778 | 48264679 | T | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0005a0002c0007others(7): Show | a0002c0002t0000a0002c0005t0000a0002c0007t0000others(7): Show | a0002c0002t0000g0000a0002c0005t0000g0000a0002c0007t0000g0000others(7): Show | 227 | 402 | 0.5647 | 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 | ||
OR4X2_chr11_48240104_48251015 | 48245184 | C | G | stop_gained | HIGH | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(76): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0000a0006c0009t0000 | a0002c0002t0000g0000a0006c0009t0000g0000 | 79 | 438 | 0.1804 | 0 | c.81C others(2): Show |
p.Tyr others(3): Show |
OR4X2 | ENSG00000172208.7 | transcript | ENST00000624868.2 | protein_coding | 1/1 | 81/912 | 81/912 | 27/303 | chr11 | TogoVar | ||
OR51Q1_chr11_5417111_5428206 | 5422906 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(212): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(1): Show | a0002c0002t0001g0000a0002c0002t0003g0000a0003c0003t0001g0000others(1): Show | 215 | 454 | 0.4736 | 0 | c.706 others(3): Show |
p.Arg others(4): Show |
OR51Q1 | ENSG00000167360.6 | transcript | ENST00000300778.4 | protein_coding | 1/1 | 796/1096 | 706/954 | 236/317 | chr11 | TogoVar | ||
OR52D1_chr11_5483685_5494749 | 5489310 | G | GGGCT | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(45): Show |
a0004a0012 | a0004c0006a0004c0017a0004c0018others(1): Show | a0004c0006t0001a0004c0017t0001a0004c0018t0001others(1): Show | a0004c0006t0001g0000a0004c0017t0001g0000a0004c0018t0001g0000others(1): Show | 48 | 470 | 0.1021 | 4 | c.605 others(11): Show |
p.Thr others(5): Show |
OR52D1 | ENSG00000181609.5 | transcript | ENST00000322641.5 | protein_coding | 1/1 | 631/1065 | 609/957 | 203/318 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
OR52E8_chr11_5851749_5862690 | 5856749 | T | A | stop_lost others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(166): Show |
a0000 | a0000c0002a0000c0003a0000c0006others(2): Show | a0000c0002t0000a0000c0003t0000a0000c0006t0000others(2): Show | a0000c0002t0000g0000a0000c0003t0000g0000a0000c0006t0000g0000others(2): Show | 169 | 436 | 0.3876 | 0 | c.942 others(3): Show |
p.Ter others(11): Show |
OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | 942/942 | 942/942 | 314/313 | chr11 | TogoVar | ||
OR5AR1_chr11_56658686_56669618 | 56663740 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0000a0001c0003t0000a0001c0005t0000others(2): Show | a0001c0001t0000g0000a0001c0003t0000g0000a0001c0005t0000g0000others(2): Show | 303 | 432 | 0.7014 | 0 | c.55C others(2): Show |
p.Gln others(3): Show |
OR5AR1 | ENSG00000172459.5 | transcript | ENST00000624596.2 | protein_coding | 1/1 | 55/933 | 55/933 | 19/310 | chr11 | TogoVar | ||
OR6C1_chr12_55309343_55327364 | 55320622 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show |
a0002 | a0002c0002a0002c0005a0002c0007others(2): Show | a0002c0002t0001a0002c0005t0002a0002c0005t0004others(3): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(50): Show | 172 | 474 | 0.3629 | 1 | c.24d others(3): Show |
p.Glu others(3): Show |
OR6C1 | ENSG00000205330.4 | transcript | ENST00000642104.1 | protein_coding | 2/2 | 315/2055 | 25/939 | 9/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
OR6C76_chr12_55421254_55432192 | 55427174 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00741.hp2 others(68): Show |
a0000a0002 | a0000c0002a0002c0004 | a0000c0002t0000a0002c0004t0000 | a0000c0002t0000g0000a0002c0004t0000g0000 | 71 | 440 | 0.1614 | -1 | c.933 others(4): Show |
p.Lys others(5): Show |
OR6C76 | ENSG00000185821.3 | transcript | ENST00000328314.3 | protein_coding | 1/1 | 933/939 | 933/939 | 311/312 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |