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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(17): Show |
20 | 72 | 0.2778 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9438045 | G | GTT | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01952.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0076 others(6): Show |
9 | 61 | 0.1475 | 2 | c.249 others(15): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149733320 | TGG | T | frameshift_variant | HIGH | HG00639.hp2 HG02896.hp1 HG02897.hp1 others(3): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0017 a0003c0005t0001g0139 a0003c0005t0001g0192 others(3): Show |
6 | 250 | 0.0240 | -2 | c.307 others(9): Show |
p.Pro others(5): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/14 | 638/2078 | 307/1506 | 103/501 | chr4 | TogoVar | |||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0008 a0001c0001t0001g0047 a0001c0001t0001g0052 others(101): Show |
104 | 140 | 0.7429 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0002 | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0001a0002c0004t0001a0002c0008t0001others(4): Show | a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0011 others(23): Show |
114 | 434 | 0.2627 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | |||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
191 | 368 | 0.5190 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(34): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0240 others(103): Show |
111 | 385 | 0.2883 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KPRP_chr1_152753025_152767056 | 152761321 | A | AT | frameshift_variant others(1): Show |
HIGH | HG02615.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0001 | 6 | 426 | 0.0141 | 1 | c.173 others(5): Show |
p.Ter others(5): Show |
KPRP | ENSG00000203786.7 | transcript | ENST00000606109.2 | protein_coding | 2/2 | 1802/2531 | 1739/1740 | 580/579 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0003a0004a0005others(10): Show | a0003c0004a0003c0026a0003c0043others(14): Show | a0003c0004t0006a0003c0026t0005a0003c0043t0006others(15): Show | a0003c0004t0006g0000 a0003c0026t0005g0000 a0003c0043t0006g0000 others(15): Show |
35 | 474 | 0.0738 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0010others(9): Show | a0002c0002a0002c0006a0002c0024others(19): Show | a0002c0002t0002a0002c0006t0002a0002c0024t0002others(21): Show | a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0024t0002g0000 others(21): Show |
116 | 426 | 0.2723 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | |||
KRTAP6-2_chr21_30593590_30603902 | 30598756 | T | TA | frameshift_variant | HIGH | HG02258.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 9 | 440 | 0.0205 | 1 | c.118 others(4): Show |
p.Tyr others(4): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1/1 | 146/313 | 118/189 | 40/62 | chr21 | TogoVar | |||
L3HYPDH_chr14_59467606_59489408 | 59483914 | TATTGACG others(15): Show |
T | frameshift_variant | HIGH | HG02897.hp1 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0038 | 1 | 352 | 0.0028 | -22 | c.381 others(29): Show |
p.Thr others(5): Show |
L3HYPDH | ENSG00000126790.12 | transcript | ENST00000247194.9 | protein_coding | 1/5 | 494/1516 | 381/1065 | 127/354 | chr14 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62312886 | A | C | splice_donor_variant others(1): Show |
HIGH | HG02897.hp2 | a0075 | a0075c0127 | a0075c0127t0001 | a0075c0127t0001g0024 | 1 | 184 | 0.0054 | 0 | c.907 others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 66/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62312887 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02897.hp2 | a0075 | a0075c0127 | a0075c0127t0001 | a0075c0127t0001g0024 | 1 | 184 | 0.0054 | 0 | c.907 others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 66/79 | chr20 | TogoVar | |||||||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | |||
LRRC34_chr3_169788003_169817904 | 169796284 | TAAAGG | T | frameshift_variant | HIGH | HG01255.hp2 HG02258.hp1 HG02896.hp2 others(4): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0007 a0005c0005t0001g0085 a0005c0005t0001g0086 |
7 | 320 | 0.0219 | -5 | c.989 others(12): Show |
p.Ser others(5): Show |
LRRC34 | ENSG00000171757.17 | transcript | ENST00000446859.7 | protein_coding | 9/11 | 1349/2383 | 989/1395 | 330/464 | chr3 | 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 | ||||||
LY96_chr8_73986392_74034079 | 73986612 | GCTGGACT others(5317): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02615.hp1 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0011 a0004c0003t0003g0012 a0004c0003t0003g0013 |
3 | 312 | 0.0096 | -5324 | c.-48 others(13): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
LYPD2_chr8_142745150_142757532 | 142750291 | G | A | stop_gained | HIGH | HG02896.hp2 HG02897.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0012 | 2 | 394 | 0.0051 | 0 | c.370 others(3): Show |
p.Arg others(4): Show |
LYPD2 | ENSG00000197353.4 | transcript | ENST00000359228.4 | protein_coding | 3/3 | 451/592 | 370/378 | 124/125 | chr8 | TogoVar | |||
MAGEA6_chrX_152761136_152774689 | 152767158 | C | CGATGCCA others(4): Show |
frameshift_variant | HIGH | HG02897.hp2 | a0006 | a0006c0013 | a0006c0013t0003 | a0006c0013t0003g0056 | 1 | 181 | 0.0055 | 11 | c.482 others(18): Show |
p.Glu others(5): Show |
MAGEA6 | ENSG00000197172.11 | transcript | ENST00000329342.10 | protein_coding | 3/3 | 659/1682 | 492/945 | 164/314 | chrX | 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 | ||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(91): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show |
94 | 402 | 0.2338 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | |||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0010 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0041 a0001c0004t0003g0042 a0001c0004t0003g0043 others(22): Show |
25 | 258 | 0.0969 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | 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 | |||
MINDY4B_chr3_150865376_150910439 | 150871091 | C | T | stop_gained | HIGH | HG01891.hp2 HG02895.hp2 HG02897.hp2 |
a0008a0009 | a0008c0007a0009c0011 | a0008c0007t0005a0009c0011t0005 | a0008c0007t0005g0005 a0009c0011t0005g0022 |
3 | 430 | 0.0070 | 0 | c.133 others(4): Show |
p.Trp others(4): Show |
MINDY4B | ENSG00000214237.11 | transcript | ENST00000465419.7 | protein_coding | 12/12 | 1337/2052 | 1337/1383 | 446/460 | chr3 | 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 | ||||||
MRC2_chr17_62622670_62698597 | 62692294 | T | A | stop_gained | HIGH | HG02897.hp2 | a0014 | a0014c0029 | a0014c0029t0002 | a0014c0029t0002g0017 | 1 | 310 | 0.0032 | 0 | c.428 others(4): Show |
p.Leu others(5): Show |
MRC2 | ENSG00000011028.14 | transcript | ENST00000303375.10 | protein_coding | 30/30 | 4416/5719 | 4283/4440 | 1428/1479 | chr17 | TogoVar | |||
MRC2_chr17_62622670_62698597 | 62692335 | ATCGAGCG others(13): Show |
A | frameshift_variant | HIGH | HG02897.hp2 | a0014 | a0014c0029 | a0014c0029t0002 | a0014c0029t0002g0017 | 1 | 310 | 0.0032 | -20 | c.432 others(29): Show |
p.Ile others(6): Show |
MRC2 | ENSG00000011028.14 | transcript | ENST00000303375.10 | protein_coding | 30/30 | 4458/5719 | 4325/4440 | 1442/1479 | chr17 | 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 | |||||||
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 |
a0003a0010a0011others(4): Show | a0003c0002a0010c0008a0011c0010others(5): Show | a0003c0002t0002a0010c0008t0002a0011c0010t0002others(5): Show | a0003c0002t0002g0001 a0003c0002t0002g0025 a0003c0002t0002g0028 others(14): Show |
31 | 184 | 0.1685 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
MUC7_chr4_70467197_70487997 | 70474006 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0004a0002c0002t0008a0007c0010t0004 | a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show |
72 | 434 | 0.1659 | 0 | c.-15 others(5): Show |
MUC7 | ENSG00000171195.11 | transcript | ENST00000304887.6 | protein_coding | 1/2 | chr4 | 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 | |||||||
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 | |||
NOTCH2NLC_chr1_149385621_149476833 | 149463506 | G | A | stop_gained | HIGH | HG02145.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0017 | a0017c0015 | a0017c0015t0015a0017c0015t0046 | a0017c0015t0015g0233 a0017c0015t0015g0234 a0017c0015t0015g0235 others(1): Show |
4 | 258 | 0.0155 | 0 | c.485 others(3): Show |
p.Trp others(4): Show |
NOTCH2NLC | ENSG00000286219.2 | transcript | ENST00000650865.2 | protein_coding | 4/5 | 652/8729 | 485/882 | 162/293 | chr1 | TogoVar | |||
NOX5_chr15_69009695_69067762 | 69047828 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 2 | 394 | 0.0051 | 0 | c.181 others(6): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 12/15 | chr15 | 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 | |||
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 | ||
NR1H2_chr19_50371457_50388388 | 50376578 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02257.hp1 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0007a0001c0019 | a0001c0007t0004a0001c0019t0006 | a0001c0007t0004g0011 a0001c0007t0004g0026 a0001c0019t0006g0027 |
7 | 372 | 0.0188 | 0 | c.-12 others(6): Show |
NR1H2 | ENSG00000131408.15 | transcript | ENST00000253727.10 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NUDT13_chr10_73105455_73136823 | 73130825 | G | GC | frameshift_variant | HIGH | HG00735.hp2 HG01243.hp1 HG01891.hp2 others(15): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0003a0002c0007t0003 | a0002c0002t0003g0016 a0002c0002t0003g0034 a0002c0002t0003g0035 others(11): Show |
18 | 322 | 0.0559 | 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(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 | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
ODF3L1_chr15_75719041_75732688 | 75724242 | C | T | stop_gained | HIGH | HG02145.hp2 HG02622.hp1 HG02723.hp1 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0005 | 7 | 384 | 0.0182 | 0 | c.43C others(2): Show |
p.Gln others(3): Show |
ODF3L1 | ENSG00000182950.3 | transcript | ENST00000332145.3 | protein_coding | 1/4 | 202/1132 | 43/825 | 15/274 | chr15 | 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 | |||
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 |