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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
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 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0002others(4): Show | 128 | 470 | 0.2723 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0008 | a0002c0002a0008c0012 | a0002c0002t0004a0002c0002t0008a0008c0012t0004 | a0002c0002t0004g0005a0002c0002t0004g0010a0002c0002t0004g0013others(14): Show | 72 | 436 | 0.1651 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
MYBPC2_chr19_50427892_50471321 | 50437522 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02559.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0213 | 2 | 396 | 0.0051 | 0 | c.512 others(5): Show |
MYBPC2 | ENSG00000086967.10 | transcript | ENST00000357701.6 | protein_coding | 6/27 | chr19 | TogoVar | ||||||
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0015a0050others(1): Show | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(37): Show | 42 | 384 | 0.1094 | 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 |
a0003a0050 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(33): Show | 37 | 384 | 0.0964 | 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 | ||
MYO7A_chr11_77123246_77220241 | 77179796 | A | AC | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show |
a0005a0008a0015others(1): Show | a0005c0008a0005c0017a0005c0026others(35): Show | a0005c0008t0001a0005c0017t0001a0005c0026t0001others(35): Show | a0005c0008t0001g0006a0005c0008t0001g0031a0005c0008t0001g0050others(51): Show | 54 | 356 | 0.1517 | 1 | c.243 others(5): Show |
p.Arg others(5): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 21/49 | 2722/7483 | 2432/6648 | 811/2215 | INFO_REALIGN_3_PRIME | chr11 | 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 | a0002c0002t0001g0009a0002c0002t0001g0019a0002c0002t0001g0020others(14): Show | 34 | 390 | 0.0872 | -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 | ||
NBPF10_chr1_146059711_146149804 | 146097947 | A | C | stop_gained | HIGH | HG02559.hp2 | a0095 | a0095c0105 | a0095c0105t0005 | a0095c0105t0005g0139 | 1 | 283 | 0.0035 | 0 | c.637 others(4): Show |
p.Tyr others(5): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 50/90 | 6410/13030 | 6375/11388 | 2125/3795 | chr1 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0003a0005others(116): Show | a0002c0002a0003c0003a0005c0072others(126): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(129): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(150): Show | 158 | 283 | 0.5583 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148572586 | T | TCTTTCTC others(1533): Show |
frameshift_variant others(1): Show |
HIGH | HG02258.hp2 HG02559.hp2 HG02647.hp1 others(1): Show |
a0002a0017 | a0002c0042a0017c0014a0017c0046 | a0002c0042t0005a0017c0014t0002a0017c0046t0002 | a0002c0042t0005g0014a0017c0014t0002g0009a0017c0014t0002g0012others(1): Show | 4 | 222 | 0.0180 | 1540 | c.261 others(1549): Show |
p.Glu others(5): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 21/71 | 2806/10779 | 2614/8967 | 872/2988 | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | -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 |
a0001a0012 | a0001c0002a0001c0007a0001c0010others(13): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(30): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(82): Show | 88 | 292 | 0.3014 | 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 |
a0001a0012 | a0001c0002a0001c0011a0001c0019others(5): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0028others(14): Show | a0001c0002t0002g0001a0001c0002t0002g0012a0001c0002t0002g0013others(54): Show | 59 | 292 | 0.2021 | 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(95): Show |
a0003a0004a0005others(11): Show | a0003c0003a0004c0004a0004c0008others(14): Show | a0003c0003t0002a0003c0003t0020a0003c0003t0039others(39): Show | a0003c0003t0002g0012a0003c0003t0002g0243a0003c0003t0002g0244others(91): Show | 98 | 344 | 0.2849 | -3168 | c.225 others(15): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 26/30 | chr1 | TogoVar | ||||||
NDRG1_chr8_133232175_133302252 | 133284329 | CCT | C | splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02559.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0003g0158a0001c0001t0004g0092a0001c0002t0001g0047others(2): Show | 5 | 378 | 0.0132 | -2 | c.-18 others(13): Show |
NDRG1 | ENSG00000104419.17 | transcript | ENST00000323851.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | ||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(251): Show |
a0000 | a0000c0001a0000c0002a0000c0003others(39): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(114): Show | a0000c0001t0001g0008a0000c0001t0001g0037a0000c0001t0001g0038others(241): Show | 254 | 350 | 0.7257 | 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 | ||
NOS3_chr7_150986017_151019588 | 150998588 | C | T | stop_gained | HIGH | HG02559.hp1 | a0009 | a0009c0035 | a0009c0035t0001 | a0009c0035t0001g0068 | 1 | 382 | 0.0026 | 0 | c.724 others(3): Show |
p.Arg others(4): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 7/27 | 1059/4366 | 724/3612 | 242/1203 | chr7 | TogoVar | ||
NOSIP_chr19_49550468_49585556 | 49555817 | A | AC | frameshift_variant | HIGH | HG00733.hp2 HG00741.hp1 HG00741.hp2 others(9): Show |
a0000 | a0000c0003 | a0000c0003t0001a0000c0003t0002 | a0000c0003t0001g0105a0000c0003t0001g0106a0000c0003t0001g0113others(9): Show | 12 | 304 | 0.0395 | 1 | c.839 others(4): Show |
p.Thr others(5): Show |
NOSIP | ENSG00000142546.14 | transcript | ENST00000596358.6 | protein_coding | 9/9 | 882/1232 | 839/906 | 280/301 | chr19 | TogoVar | ||
NPHP4_chr1_5857811_5997425 | 5875102 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00735.hp2 HG00741.hp2 others(17): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0015t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0018others(17): Show | 20 | 208 | 0.0962 | 0 | c.281 others(6): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 20/29 | chr1 | 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 | ||
NPIPB4_chr16_21829582_21862756 | 21835517 | TCGGCAGG others(106): Show |
T | frameshift_variant | HIGH | HG01934.hp1 HG01975.hp1 HG02559.hp2 others(4): Show |
a0013a0029a0060others(2): Show | a0013c0018a0013c0074a0029c0028others(3): Show | a0013c0018t0001a0013c0074t0001a0029c0028t0001others(3): Show | a0013c0018t0001g0075a0013c0018t0001g0076a0013c0074t0001g0055others(4): Show | 7 | 204 | 0.0343 | -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 | 21835882 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show |
a0004a0008a0013others(18): Show | a0004c0004a0004c0027a0004c0089others(21): Show | a0004c0004t0001a0004c0027t0001a0004c0089t0001others(21): Show | a0004c0004t0001g0105a0004c0004t0001g0129a0004c0004t0001g0146others(37): 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 |
a0008a0013a0029others(3): Show | a0008c0007a0013c0018a0013c0074others(4): Show | a0008c0007t0001a0013c0018t0001a0013c0074t0001others(4): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(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 |
a0008a0013a0029others(1): Show | a0008c0007a0013c0018a0013c0074others(2): Show | a0008c0007t0001a0013c0018t0001a0013c0074t0001others(2): Show | a0008c0007t0001g0001a0008c0007t0001g0078a0008c0007t0001g0081others(7): Show | 11 | 204 | 0.0539 | -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 | ||
NPIPB8_chr16_28633065_28663744 | 28658517 | A | AAGAGGCA others(3): Show |
frameshift_variant | HIGH | HG02055.hp1 HG02280.hp2 HG02559.hp2 others(16): Show |
a0004a0005a0023others(1): Show | a0004c0004a0005c0008a0005c0015others(2): Show | a0004c0004t0001a0005c0008t0002a0005c0015t0001others(3): Show | a0004c0004t0001g0198a0004c0004t0001g0199a0004c0004t0001g0200others(16): Show | 19 | 351 | 0.0541 | 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 | |
NPPA_chr1_11840709_11852783 | 11846011 | A | G | stop_lost | HIGH | HG00140.hp2 HG00642.hp2 HG01074.hp1 others(62): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004 | a0000c0002t0002g0004a0000c0002t0002g0006a0000c0002t0002g0007others(7): Show | 65 | 366 | 0.1776 | 0 | c.454 others(3): Show |
p.Ter others(11): Show |
NPPA | ENSG00000175206.11 | transcript | ENST00000376480.7 | protein_coding | 3/3 | 553/855 | 454/456 | 152/151 | chr1 | 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 | ||
NUDT13_chr10_73105455_73136823 | 73130825 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01243.hp1 HG01891.hp2 others(15): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0007t0003 | a0002c0002t0003g0035a0002c0002t0003g0158a0002c0002t0003g0159others(14): Show | 18 | 324 | 0.0556 | 1 | c.986 others(4): Show |
p.Lys others(5): Show |
NUDT13 | ENSG00000166321.14 | transcript | ENST00000357321.9 | protein_coding | 9/9 | 1109/2101 | 987/1059 | 329/352 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -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 | |
NUTM2B_chr10_79698227_79717758 | 79708709 | C | T | stop_gained | HIGH | HG02257.hp1 HG02451.hp1 HG02559.hp1 others(2): Show |
a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0001 | 5 | 305 | 0.0164 | 0 | c.109 others(4): Show |
p.Arg others(4): Show |
NUTM2B | ENSG00000188199.11 | transcript | ENST00000429828.7 | protein_coding | 3/7 | 1476/3293 | 1093/2637 | 365/878 | chr10 | TogoVar | ||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 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 | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 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(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 | |
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0002a0006a0007others(2): Show | a0002c0001a0002c0005a0002c0010others(4): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(4): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(4): Show | 174 | 412 | 0.4223 | -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 |
a0002a0003a0006others(3): Show | a0002c0001a0002c0005a0002c0010others(8): Show | a0002c0001t0000a0002c0005t0000a0002c0010t0000others(8): Show | a0002c0001t0000g0000a0002c0005t0000g0000a0002c0010t0000g0000others(8): Show | 207 | 412 | 0.5024 | -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(5): Show | a0001c0001a0004c0004a0005c0005others(5): Show | a0001c0001t0000a0004c0004t0000a0005c0005t0000others(5): Show | a0001c0001t0000g0000a0004c0004t0000g0000a0005c0005t0000g0000others(5): Show | 212 | 424 | 0.5000 | -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 | ||
OR13G1_chr1_247665812_247684739 | 247679639 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02486.hp1 HG02559.hp2 HG02818.hp1 |
a0008 | a0008c0009 | a0008c0009t0003 | a0008c0009t0003g0031a0008c0009t0003g0050 | 3 | 414 | 0.0073 | 0 | c.-23 others(6): Show |
OR13G1 | ENSG00000197437.5 | transcript | ENST00000642119.1 | protein_coding | 1/1 | chr1 | 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 | a0001c0002t0001g0001a0001c0002t0001g0046a0001c0002t0001g0114others(80): Show | 220 | 478 | 0.4603 | -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 | ||
OR2D2_chr11_6886574_6897500 | 6891690 | ATT | A | frameshift_variant | HIGH | HG01109.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
a0005a0011 | a0005c0006a0011c0016 | a0005c0006t0000a0011c0016t0000 | a0005c0006t0000g0000a0011c0016t0000g0000 | 15 | 482 | 0.0311 | -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 | a0001c0001t0000a0001c0002t0000a0001c0006t0000others(4): Show | a0001c0001t0000g0000a0001c0002t0000g0000a0001c0006t0000g0000others(4): Show | 276 | 379 | 0.7282 | 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 | ||
OR2T27_chr1_248644838_248660528 | 248650008 | T | TA | frameshift_variant | HIGH | HG01243.hp1 HG01884.hp1 HG02055.hp1 others(19): Show |
a0009a0010a0016others(7): Show | a0009c0010a0010c0015a0010c0051others(8): Show | a0009c0010t0004a0010c0015t0004a0010c0015t0011others(9): Show | a0009c0010t0004g0010a0010c0015t0004g0024a0010c0015t0011g0128others(10): Show | 22 | 384 | 0.0573 | 1 | c.876 others(4): Show |
p.Arg others(5): Show |
OR2T27 | ENSG00000187701.5 | transcript | ENST00000460972.4 | protein_coding | 2/2 | 965/1136 | 876/954 | 292/317 | chr1 | TogoVar | ||
OR2T2_chr1_248440637_248460725 | 248446506 | AGATGGGC others(93): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0018 | a0003c0004t0007g0021a0003c0004t0007g0118a0003c0004t0007g0119others(3): Show | 8 | 329 | 0.0243 | -100 | c.-44 others(112): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 2/4 | 6185 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 301 | 309 | 0.9741 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | ||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 299 | 309 | 0.9676 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | ||
OR2T4_chr1_248356665_248367627 | 248362336 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0010 | a0001c0001a0001c0011a0001c0014others(1): Show | a0001c0001t0000a0001c0011t0000a0001c0014t0000others(1): Show | a0001c0001t0000g0000a0001c0011t0000g0000a0001c0014t0000g0000others(1): Show | 158 | 428 | 0.3692 | -1 | c.673 others(4): Show |
p.Ile others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 673/963 | 673/963 | 225/320 | chr1 | TogoVar | ||
OR3A1_chr17_3286017_3303360 | 3292309 | T | A | stop_gained | HIGH | HG01358.hp2 HG02055.hp2 HG02559.hp1 others(6): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0002a0003c0005t0003 | a0003c0004t0002g0013a0003c0004t0002g0055a0003c0005t0003g0011 | 9 | 398 | 0.0226 | 0 | c.274 others(3): Show |
p.Lys others(3): Show |
OR3A1 | ENSG00000180090.6 | transcript | ENST00000323404.2 | protein_coding | 2/2 | 358/1650 | 274/948 | 92/315 | chr17 | TogoVar |