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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | |||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | |||
PSG8_chr19_42749233_42770678 | 42763988 | AG | A | frameshift_variant | HIGH | HG00280.hp1 HG00609.hp2 HG00738.hp2 others(33): Show |
a0003a0009a0011others(3): Show | a0003c0003a0003c0005a0003c0013others(6): Show | a0003c0003t0001a0003c0005t0001a0003c0013t0001others(6): Show | a0003c0003t0001g0008 a0003c0003t0001g0024 a0003c0003t0001g0157 others(17): Show |
36 | 436 | 0.0826 | -1 | c.357 others(4): Show |
p.Tyr others(5): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 2/5 | 454/1440 | 357/1281 | 119/426 | chr19 | TogoVar | |||
PTPRQ_chr12_80439235_80685273 | 80484408 | T | TTTTC | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01074.hp2 HG01192.hp2 others(31): Show |
a0003a0005a0010others(14): Show | a0003c0004a0005c0003a0005c0079others(16): Show | a0003c0004t0005a0005c0003t0001a0005c0003t0002others(20): Show | a0003c0004t0005g0091 a0005c0003t0001g0105 a0005c0003t0001g0107 others(31): Show |
34 | 176 | 0.1932 | 4 | c.118 others(17): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 8/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RAD17_chr5_69364818_69419801 | 69371436 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00642.hp1 HG01243.hp1 others(25): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0002a0010c0011t0002 | a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 others(25): Show |
28 | 68 | 0.4118 | 1 | c.-27 others(7): Show |
RAD17 | ENSG00000152942.19 | transcript | ENST00000354868.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAMACL_chr6_166578009_166591678 | 166585488 | TCAAACAA others(1183): Show |
T | frameshift_variant others(1): Show |
HIGH | HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show |
a0002 | a0002c0000 | a0002c0000t0004a0002c0000t0006a0002c0000t0008others(3): Show | a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show |
43 | 440 | 0.0977 | -1190 | c.-20 others(9): Show |
p.Met others(3): Show |
RAMACL | ENSG00000235272.3 | transcript | ENST00000444122.3 | protein_coding | 1/1 | 1190/3670 | 1/357 | 1/118 | chr6 | TogoVar | |||
RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(111): Show |
146 | 375 | 0.3893 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | |||||||
RFPL4A_chr19_55754097_55768421 | 55762362 | G | GAAAGGCA others(9995): Show |
stop_gained others(1): Show |
HIGH | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 10002 | c.515 others(10009): Show |
p.Val others(10015): Show |
RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 3/3 | 604/1198 | 516/864 | 172/287 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
RGPD5_chr2_109789305_109862705 | 109801771 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG02723.hp2 HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0001a0001c0009t0003 | a0001c0005t0001g0038 a0001c0005t0001g0039 a0001c0009t0003g0040 |
3 | 40 | 0.0750 | 1 | c.73- others(5): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
RPL28_chr19_55380932_55397085 | 55388029 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 others(17): Show |
55 | 309 | 0.1780 | 1 | c.307 others(4): Show |
p.Arg others(5): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 4/5 | 350/4209 | 308/414 | 103/137 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
RWDD1_chr6_116566504_116602675 | 116590870 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00741.hp1 HG01243.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0003g0021 a0001c0001t0003g0032 a0001c0001t0003g0064 others(6): Show |
14 | 276 | 0.0507 | 1 | c.548 others(6): Show |
RWDD1 | ENSG00000111832.13 | transcript | ENST00000466444.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
101 | 227 | 0.4449 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SAA1_chr11_18261264_18274967 | 18269807 | CAA | C | frameshift_variant | HIGH | HG02895.hp1 HG02896.hp1 HG02965.hp1 others(3): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0004 a0006c0008t0001g0059 |
6 | 440 | 0.0136 | -2 | c.323 others(9): Show |
p.Lys others(5): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 4/4 | 360/518 | 323/369 | 108/122 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SAMD15_chr14_77372379_77397163 | 77377420 | T | G | start_lost | HIGH | HG02451.hp1 HG02572.hp2 HG03209.hp2 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0022 a0006c0008t0002g0037 |
3 | 312 | 0.0096 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
SAMD15 | ENSG00000100583.5 | transcript | ENST00000216471.5 | protein_coding | 1/3 | 42/2984 | 2/2025 | 1/674 | chr14 | TogoVar | |||
SBK2_chr19_55523611_55542133 | 55530084 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(32): Show |
a0003 | a0003c0003a0003c0007a0003c0017others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(12): Show | a0003c0003t0001g0037 a0003c0003t0001g0042 a0003c0003t0001g0064 others(29): Show |
35 | 432 | 0.0810 | 1 | c.695 others(4): Show |
p.Pro others(5): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 4/4 | 777/2251 | 695/1047 | 232/348 | chr19 | TogoVar | |||
SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0007others(7): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show |
102 | 431 | 0.2367 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SERPINA9_chr14_94457721_94481197 | 94469278 | AC | A | frameshift_variant | HIGH | HG02486.hp2 HG02723.hp2 HG02976.hp1 others(5): Show |
a0009a0015 | a0009c0012a0015c0017 | a0009c0012t0002a0015c0017t0002a0015c0017t0007 | a0009c0012t0002g0096 a0009c0012t0002g0172 a0009c0012t0002g0186 others(4): Show |
8 | 464 | 0.0172 | -1 | c.562 others(4): Show |
p.Val others(5): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 2/5 | 641/1705 | 562/1254 | 188/417 | chr14 | TogoVar | |||
SIGLEC11_chr19_49943985_49966172 | 49960562 | TAGAA | T | frameshift_variant | HIGH | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
a0004a0007a0012others(3): Show | a0004c0004a0004c0008a0004c0015others(16): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(18): Show | a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show |
65 | 450 | 0.1444 | -4 | c.446 others(11): Show |
p.Phe others(5): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 2/11 | 540/3173 | 446/2097 | 149/698 | chr19 | TogoVar | |||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0003a0001c0005others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show |
228 | 430 | 0.5302 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | |||
SIGLEC5_chr19_51605960_51635401 | 51627678 | G | A | stop_gained | HIGH | HG01884.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
a0005 | a0005c0010a0005c0013a0005c0036 | a0005c0010t0001a0005c0010t0014a0005c0013t0001others(1): Show | a0005c0010t0001g0124 a0005c0010t0001g0154 a0005c0010t0001g0155 others(7): Show |
12 | 412 | 0.0291 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
SIGLEC5 | ENSG00000268500.7 | transcript | ENST00000683636.1 | protein_coding | 6/9 | 1132/2993 | 1066/1656 | 356/551 | chr19 | TogoVar | |||
SIRPB1_chr20_1556385_1625009 | 1572827 | AAGGTCAA others(33021): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 HG01106.hp1 HG01123.hp2 others(14): Show |
a0003 | a0003c0003a0003c0018 | a0003c0003t0005a0003c0003t0020a0003c0018t0018 | a0003c0003t0005g0007 a0003c0003t0005g0046 a0003c0003t0005g0047 others(6): Show |
17 | 362 | 0.0470 | -33028 | c.76+ others(16): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | |||
SLC22A24_chr11_63074940_63149221 | 63143377 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show |
a0003a0005a0009others(2): Show | a0003c0003a0003c0008a0005c0006others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 others(77): Show |
86 | 364 | 0.2363 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show |
181 | 453 | 0.3996 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | |||
SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show |
59 | 454 | 0.1300 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | |||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(103): Show |
140 | 282 | 0.4965 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27495209 | GTTTTCTC others(7014): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0003a0004 | a0003c0004a0003c0009a0003c0013others(1): Show | a0003c0004t0005a0003c0004t0006a0003c0009t0005others(2): Show | a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(15): Show |
21 | 358 | 0.0587 | -7021 | c.658 others(12): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
SNX31_chr8_100567889_100654665 | 100596815 | GC | G | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG02109.hp1 others(8): Show |
a0009a0011a0013 | a0009c0009a0009c0023a0011c0010others(1): Show | a0009c0009t0002a0009c0023t0002a0011c0010t0007others(3): Show | a0009c0009t0002g0029 a0009c0009t0002g0032 a0009c0009t0002g0033 others(8): Show |
11 | 302 | 0.0364 | -1 | c.801 others(4): Show |
p.His others(5): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 10/14 | 952/2450 | 801/1323 | 267/440 | chr8 | TogoVar | |||
SPATA31A3_chr9_66981304_66997550 | 66988619 | G | A | stop_gained | HIGH | HG01081.hp1 HG01167.hp1 HG01192.hp1 others(19): Show |
a0006a0015a0021others(1): Show | a0006c0005a0006c0056a0006c0057others(4): Show | a0006c0005t0001a0006c0056t0001a0006c0057t0001others(4): Show | a0006c0005t0001g0009 a0006c0005t0001g0024 a0006c0005t0001g0036 others(9): Show |
22 | 406 | 0.0542 | 0 | c.187 others(4): Show |
p.Gln others(4): Show |
SPATA31A3 | ENSG00000275969.3 | transcript | ENST00000428649.5 | protein_coding | 4/4 | 1908/4223 | 1879/4044 | 627/1347 | chr9 | TogoVar | |||
SPDYE3_chr7_100302702_100327196 | 100311106 | CAAAAAAA others(2776): Show |
C | exon_loss_variant | HIGH | HG01943.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0052 |
2 | 306 | 0.0065 | -2783 | c.545 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64097222 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0010a0001c0001t0117a0001c0001t0133others(15): Show | a0001c0001t0010g0157 a0001c0001t0117g0078 a0001c0001t0133g0119 others(15): Show |
18 | 166 | 0.1084 | 1 | c.167 others(7): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAG2_chrX_123956706_124107656 | 124061743 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0020 others(37): Show |
40 | 148 | 0.2703 | 3 | c.153 others(16): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SULT1C3_chr2_108234968_108265886 | 108247302 | G | A | stop_gained | HIGH | HG02486.hp1 HG02572.hp2 HG03209.hp1 others(3): Show |
a0006 | a0006c0006a0006c0018 | a0006c0006t0001a0006c0006t0005a0006c0018t0001 | a0006c0006t0001g0017 a0006c0006t0005g0146 a0006c0018t0001g0145 |
6 | 374 | 0.0160 | 0 | c.108 others(3): Show |
p.Trp others(3): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 2/8 | 231/1244 | 108/915 | 36/304 | chr2 | TogoVar | |||
SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0002a0001c0005t0001a0001c0005t0003others(59): Show | a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show |
78 | 143 | 0.5455 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 |
74 | 428 | 0.1729 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | TogoVar | |||
TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | |||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | |||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D3I_chr17_36248639_36269570 | 36254078 | G | GGTGCACT others(36): Show |
frameshift_variant | HIGH | HG02280.hp1 HG02809.hp2 HG02896.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0025 a0005c0006t0005g0101 a0005c0006t0005g0102 |
4 | 182 | 0.0220 | 43 | c.152 others(52): Show |
p.Pro others(5): Show |
TBC1D3I | ENSG00000274933.6 | transcript | ENST00000621034.2 | protein_coding | 14/14 | 1682/2122 | 1525/1650 | 509/549 | chr17 | TogoVar | |||
TEX44_chr2_231587864_231599276 | 231594078 | T | TGCGCTAC others(12): Show |
frameshift_variant | HIGH | HG02976.hp1 HG03209.hp1 |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0000 | 2 | 436 | 0.0046 | 19 | c.112 others(28): Show |
p.Leu others(5): Show |
TEX44 | ENSG00000177673.4 | transcript | ENST00000313965.4 | protein_coding | 1/1 | 1235/1413 | 1147/1188 | 383/395 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TGFBI_chr5_136023988_136068818 | 136060887 | G | GCCCCCCC others(9): Show |
frameshift_variant | HIGH | HG03209.hp2 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0098 | 1 | 402 | 0.0025 | 16 | c.185 others(25): Show |
p.Ala others(5): Show |
TGFBI | ENSG00000120708.17 | transcript | ENST00000442011.7 | protein_coding | 14/17 | 1926/2712 | 1858/2052 | 620/683 | chr5 | TogoVar | |||
THNSL2_chr2_88165346_88191627 | 88178881 | AACTGGTC others(66): Show |
A | frameshift_variant | HIGH | HG03209.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0040 | 1 | 52 | 0.0192 | -73 | c.673 others(80): Show |
p.Trp others(5): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/9 | 796/2082 | 673/1455 | 225/484 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0009a0004c0004t0017others(5): Show | a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show |
36 | 434 | 0.0829 | -1 | c.191 others(4): Show |
p.Gly others(4): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 453/3493 | 191/1566 | 64/521 | chr5 | TogoVar | |||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(8): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp2 HG02109.hp1 HG02572.hp1 others(9): Show |
a0001a0005a0016 | a0001c0007a0001c0017a0001c0020others(3): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0031 a0001c0007t0001g0070 a0001c0007t0001g0076 others(8): Show |
12 | 193 | 0.0622 | 15 | c.184 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TNFAIP3_chr6_137862259_137888312 | 137867485 | GCCCGGAG others(17): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00639.hp2 HG01099.hp1 HG01106.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0002 a0002c0002t0002g0084 a0002c0003t0002g0006 others(5): Show |
14 | 358 | 0.0391 | -24 | c.-21 others(34): Show |
TNFAIP3 | ENSG00000118503.18 | transcript | ENST00000612899.5 | protein_coding | 1/9 | 3668 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211 a0001c0002t0007g0215 a0001c0002t0007g0220 others(37): Show |
42 | 381 | 0.1102 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar |