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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0006a0007a0010others(1): Show | a0006c0007a0007c0008a0010c0014others(2): Show | a0006c0007t0004a0007c0008t0005a0010c0014t0003others(2): Show | a0006c0007t0004g0008 a0006c0007t0004g0067 a0006c0007t0004g0068 others(21): Show |
46 | 438 | 0.1050 | -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 | 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 | 12022138 | C | A | stop_gained | HIGH | HG03209.hp2 | a0020 | a0020c0012 | a0020c0012t0001 | a0020c0012t0001g0023 | 1 | 412 | 0.0024 | 0 | c.158 others(3): Show |
p.Ser others(3): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 3/10 | 295/1541 | 158/1167 | 53/388 | chr1 | TogoVar | |||
MOK_chr14_102223836_102310164 | 102229315 | T | TGGGCAGG others(13): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0229 | 1 | 250 | 0.0040 | 20 | c.121 others(29): Show |
p.Thr others(5): Show |
MOK | ENSG00000080823.23 | transcript | ENST00000361847.7 | protein_coding | 12/12 | 1429/1909 | 1233/1260 | 411/419 | chr14 | 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 | ||||||
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 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show |
85 | 430 | 0.1977 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | 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 | |||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show |
128 | 468 | 0.2735 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MYCT1_chr6_152692897_152729569 | 152697964 | GAGAT | G | frameshift_variant | HIGH | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(48): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0009others(6): Show | a0002c0002t0003g0052 a0002c0002t0004g0003 a0002c0002t0004g0028 others(19): Show |
51 | 442 | 0.1154 | -4 | c.66_ others(9): Show |
p.Asp others(4): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/2 | 72/3030 | 66/708 | 22/235 | INFO_REALIGN_3_PRIME | chr6 | 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 | 75590244 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG01257.hp2 HG01258.hp1 others(11): Show |
a0008a0010a0011others(4): Show | a0008c0009a0010c0029a0010c0074others(6): Show | a0008c0009t0001a0010c0029t0001a0010c0029t0008others(7): Show | a0008c0009t0001g0008 a0008c0009t0001g0033 a0008c0009t0001g0034 others(10): Show |
14 | 382 | 0.0366 | 0 | c.218 others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/63 | chr17 | 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 | |||||||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0023a0002c0041others(17): Show | a0002c0002t0002a0002c0002t0014a0002c0002t0018others(25): Show | a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0022 others(145): Show |
156 | 386 | 0.4041 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | |||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(34): Show |
a0001a0023a0028 | a0001c0001a0023c0024a0028c0039 | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(30): Show |
37 | 256 | 0.1445 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | 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 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0002a0013 | a0002c0001a0002c0031a0013c0025 | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(9): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(54): Show |
59 | 290 | 0.2034 | 0 | c.271 others(4): Show |
p.Tyr others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 23/23 | 3687/7256 | 2715/2829 | 905/942 | 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 | |||
NOMO3_chr16_16227528_16299811 | 16263645 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01168.hp2 HG01257.hp1 others(3): Show |
a0004a0008a0009 | a0004c0004a0008c0012a0009c0013 | a0004c0004t0002a0008c0012t0005a0009c0013t0001 | a0004c0004t0002g0123 a0004c0004t0002g0124 a0004c0004t0002g0125 others(3): Show |
6 | 132 | 0.0455 | 0 | c.166 others(6): Show |
NOMO3 | ENSG00000103226.19 | transcript | ENST00000399336.9 | protein_coding | 14/30 | chr16 | TogoVar | |||||||
NOX5_chr15_69009695_69067762 | 69035397 | G | A | stop_gained | HIGH | HG02257.hp1 HG02280.hp1 HG02280.hp2 others(8): Show |
a0005a0009 | a0005c0006a0005c0008a0009c0010 | a0005c0006t0006a0005c0006t0028a0005c0008t0006others(2): Show | a0005c0006t0006g0295 a0005c0006t0006g0296 a0005c0006t0006g0298 others(7): Show |
11 | 394 | 0.0279 | 0 | c.899 others(3): Show |
p.Trp others(4): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 6/16 | 940/8405 | 899/2298 | 300/765 | chr15 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -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 | 29382661 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG03209.hp1 | a0050 | a0050c0092 | a0050c0092t0001 | a0050c0092t0001g0091 | 1 | 424 | 0.0024 | 13 | c.227 others(22): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5017/6369 | 2270/3486 | 757/1161 | chr16 | 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 | |||
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 | |||
NPIPB8_chr16_28633065_28663744 | 28658517 | A | AAGAGGCA others(3): Show |
frameshift_variant | HIGH | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show |
a0004a0006a0025others(1): Show | a0004c0005a0006c0008a0006c0015others(2): Show | a0004c0005t0001a0006c0008t0002a0006c0015t0001others(3): Show | a0004c0005t0001g0199 a0004c0005t0001g0200 a0004c0005t0001g0201 others(16): Show |
19 | 350 | 0.0543 | 10 | c.118 others(19): Show |
p.Ala others(5): Show |
NPIPB8 | ENSG00000255524.8 | transcript | ENST00000683297.1 | protein_coding | 8/8 | 1321/1537 | 1197/1299 | 399/432 | INFO_REALIGN_3_PRIME | 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 | ||||||
NUDT13_chr10_73105455_73136823 | 73125116 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0070 | 1 | 322 | 0.0031 | 0 | c.466 others(5): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
NUDT13_chr10_73105455_73136823 | 73125117 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0070 | 1 | 322 | 0.0031 | 0 | c.466 others(5): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
NUDT13_chr10_73105455_73136823 | 73125121 | C | T | stop_gained | HIGH | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0070 | 1 | 322 | 0.0031 | 0 | c.469 others(3): Show |
p.Gln others(4): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 6/9 | 591/2101 | 469/1059 | 157/352 | chr10 | TogoVar | |||
NUDT13_chr10_73105455_73136823 | 73125151 | C | T | stop_gained | HIGH | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0070 | 1 | 322 | 0.0031 | 0 | c.499 others(3): Show |
p.Gln others(4): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 6/9 | 621/2101 | 499/1059 | 167/352 | chr10 | TogoVar | |||
NUDT13_chr10_73105455_73136823 | 73125163 | A | T | stop_gained | HIGH | HG03209.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0070 | 1 | 322 | 0.0031 | 0 | c.511 others(3): Show |
p.Arg others(4): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 6/9 | 633/2101 | 511/1059 | 171/352 | chr10 | 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 | ||
NWD1_chr19_16714847_16822953 | 16744622 | G | T | stop_gained | HIGH | HG01891.hp2 HG02257.hp2 HG02280.hp2 others(6): Show |
a0007a0015 | a0007c0028a0007c0029a0007c0068others(3): Show | a0007c0028t0002a0007c0028t0034a0007c0029t0002others(4): Show | a0007c0028t0002g0115 a0007c0028t0034g0258 a0007c0029t0002g0297 others(6): Show |
9 | 298 | 0.0302 | 0 | c.400 others(3): Show |
p.Glu others(4): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 5/19 | 951/7764 | 400/4299 | 134/1432 | chr19 | TogoVar | |||
OGFOD2_chr12_122970244_122985042 | 122979102 | AGCCCCTG others(19): Show |
A | frameshift_variant | HIGH | HG03209.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0002 | 1 | 364 | 0.0027 | -26 | c.813 others(33): Show |
p.Leu others(5): Show |
OGFOD2 | ENSG00000111325.16 | transcript | ENST00000228922.12 | protein_coding | 7/7 | 821/1757 | 813/1053 | 271/350 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | 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 | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 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 | ||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | |||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0005c0005others(4): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(4): Show | a0001c0001t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 others(4): Show |
212 | 422 | 0.5024 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | |||
OR13D1_chr9_104689518_104700462 | 104695275 | G | GTGAA | frameshift_variant | HIGH | HG01255.hp2 HG01884.hp2 HG02257.hp2 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 6 | 394 | 0.0152 | 4 | c.759 others(11): Show |
p.Ser others(5): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 1/1 | 760/945 | 760/945 | 254/314 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
OR1R1P_chr17_3380930_3391874 | 3385989 | A | AACAG | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
a0001 | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(3): Show | a0001c0001t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 others(3): Show |
201 | 414 | 0.4855 | 4 | c.63_ others(9): Show |
p.Ala others(4): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1/1 | 67/945 | 67/945 | 23/314 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0001a0011c0016t0001 | a0005c0006t0001g0000 a0011c0016t0001g0000 |
15 | 480 | 0.0313 | -2 | c.809 others(9): Show |
p.Lys others(5): Show |
OR2D2 | ENSG00000166368.3 | transcript | ENST00000299459.3 | protein_coding | 1/1 | 810/927 | 809/927 | 270/308 | chr11 | 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 | |||
OR2T29_chr1_248551912_248567772 | 248559422 | G | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(93): Show |
a0002a0016 | a0002c0002a0002c0009a0002c0013others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(13): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0012 others(20): Show |
96 | 312 | 0.3077 | 0 | c.70C others(2): Show |
p.Gln others(3): Show |
OR2T29 | ENSG00000182783.6 | transcript | ENST00000641069.1 | protein_coding | 2/2 | 127/2637 | 70/948 | 24/315 | chr1 | TogoVar |