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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHB1_chr11_73641581_73667819 | 73660839 | A | AGGTAAGT others(3): Show |
frameshift_variant | HIGH | HG02622.hp2 HG02818.hp1 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 a0002c0002t0001g0055 |
3 | 414 | 0.0072 | 10 | c.582 others(17): Show |
p.Pro others(5): Show |
PLEKHB1 | ENSG00000021300.14 | transcript | ENST00000354190.10 | protein_coding | 7/8 | 611/1977 | 583/732 | 195/243 | chr11 | TogoVar | |||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
PNMA6A_chrX_153067454_153080019 | 153074147 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(8): Show |
a0004a0005 | a0004c0005a0005c0006a0005c0012 | a0004c0005t0001a0004c0005t0003a0004c0005t0008others(4): Show | a0004c0005t0001g0001 a0004c0005t0001g0007 a0004c0005t0003g0001 others(5): Show |
11 | 83 | 0.1325 | 1 | c.108 others(5): Show |
p.Val others(5): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1369/2238 | 1088/1200 | 363/399 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show |
58 | 158 | 0.3671 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
PP2D1_chr3_19980346_20017264 | 19986183 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01884.hp2 HG02572.hp2 HG02622.hp1 others(8): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002 | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(2): Show |
11 | 394 | 0.0279 | 0 | c.109 others(6): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
PRAG1_chr8_8312736_8391439 | 8318852 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp2 HG01099.hp1 others(8): Show |
a0009a0017a0022others(4): Show | a0009c0012a0017c0048a0017c0052others(5): Show | a0009c0012t0002a0017c0048t0004a0017c0052t0001others(5): Show | a0009c0012t0002g0029 a0009c0012t0002g0079 a0009c0012t0002g0114 others(8): Show |
11 | 334 | 0.0329 | 1 | c.352 others(5): Show |
p.Ala others(6): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 6/6 | 3728/4845 | 3522/4221 | 1174/1406 | chr8 | TogoVar | |||
PRAM1_chr19_8485056_8507640 | 8502591 | T | C | start_lost | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0002a0003a0004others(23): Show | a0002c0002a0003c0003a0004c0005others(46): Show | a0002c0002t0002a0003c0003t0002a0004c0005t0002others(47): Show | a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show |
128 | 420 | 0.3048 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
PRAM1 | ENSG00000133246.12 | transcript | ENST00000423345.5 | protein_coding | 1/10 | 50/2195 | 1/2013 | 1/670 | chr19 | TogoVar | |||
PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0007 | a0007c0006 | a0007c0006t0004 | a0007c0006t0004g0012 a0007c0006t0004g0065 |
5 | 322 | 0.0155 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76344683 | TGTATAAT others(4): Show |
T | frameshift_variant | HIGH | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0307 | 1 | 364 | 0.0027 | -11 | c.267 others(18): Show |
p.Phe others(4): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 3/10 | 490/3435 | 267/1158 | 89/385 | chr17 | TogoVar | |||
PRRT1B_chr9_131540523_131564815 | 131545642 | T | A | splice_donor_variant others(1): Show |
HIGH | HG02622.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0031 a0001c0001t0016g0031 |
2 | 456 | 0.0044 | 0 | c.25+ others(4): Show |
PRRT1B | ENSG00000283526.2 | transcript | ENST00000636672.2 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
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 | |||
PSG9_chr19_43248282_43274530 | 43267835 | G | A | stop_gained | HIGH | HG02622.hp2 | a0017 | a0017c0024 | a0017c0024t0007 | a0017c0024t0007g0040 | 1 | 210 | 0.0048 | 0 | c.379 others(3): Show |
p.Arg others(4): Show |
PSG9 | ENSG00000183668.18 | transcript | ENST00000270077.8 | protein_coding | 2/6 | 478/1707 | 379/1281 | 127/426 | chr19 | TogoVar | |||
PTPN23_chr3_47376021_47418435 | 47411089 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show |
a0002a0004a0005others(6): Show | a0002c0004a0002c0008a0002c0009others(17): Show | a0002c0004t0001a0002c0008t0001a0002c0008t0003others(18): Show | a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show |
135 | 330 | 0.4091 | 1 | c.329 others(5): Show |
p.Arg others(6): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 20/25 | 3373/5237 | 3297/4911 | 1099/1636 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
PTPRH_chr19_55176247_55214501 | 55197302 | C | T | stop_gained | HIGH | HG02622.hp2 | a0036 | a0036c0080 | a0036c0080t0001 | a0036c0080t0001g0147 | 1 | 376 | 0.0027 | 0 | c.180 others(4): Show |
p.Trp others(4): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 9/20 | 1873/3923 | 1805/3348 | 602/1115 | chr19 | 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 | |||||||
PZP_chr12_9143840_9213395 | 9157223 | G | A | stop_gained | HIGH | HG02622.hp1 HG02723.hp1 NA19030.hp1 |
a0021a0037 | a0021c0027a0037c0044 | a0021c0027t0001a0037c0044t0001 | a0021c0027t0001g0028 a0037c0044t0001g0252 |
3 | 332 | 0.0090 | 0 | c.350 others(4): Show |
p.Gln others(5): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 28/36 | 3556/4635 | 3502/4449 | 1168/1482 | chr12 | TogoVar | |||
R3HDM1_chr2_135526484_135730269 | 135724075 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0005a0006a0007others(1): Show | a0005c0006a0006c0005a0007c0007others(1): Show | a0005c0006t0001a0005c0006t0003a0006c0005t0001others(3): Show | a0005c0006t0001g0010 a0005c0006t0001g0022 a0005c0006t0001g0126 others(9): Show |
12 | 229 | 0.0524 | 1 | c.319 others(5): Show |
p.Leu others(6): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 27/27 | 3593/4781 | 3194/3405 | 1065/1134 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
RARA_chr17_40304180_40362643 | 40348371 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG01175.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001 a0002c0002t0001g0024 a0002c0002t0001g0025 others(11): Show |
14 | 284 | 0.0493 | 1 | c.239 others(4): Show |
p.Leu others(4): Show |
RARA | ENSG00000131759.18 | transcript | ENST00000254066.10 | protein_coding | 3/9 | 709/3275 | 240/1389 | 80/462 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
RAX2_chr19_3764089_3777228 | 3772011 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02109.hp2 HG02280.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0014 a0001c0001t0006g0034 a0001c0001t0008g0008 others(2): Show |
12 | 433 | 0.0277 | 2 | c.-26 others(15): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 1/2 | chr19 | 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 | |||||||
RETNLB_chr3_108750638_108762410 | 108757146 | G | GGGGGATT others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007 a0004c0004t0004g0021 |
18 | 450 | 0.0400 | 8 | c.32_ others(13): Show |
p.Leu others(4): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 1/3 | 264/701 | 39/336 | 13/111 | chr3 | TogoVar | |||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0006 | a0003c0003a0003c0012a0006c0009 | a0003c0003t0003a0003c0012t0003a0006c0009t0003 | a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show |
35 | 442 | 0.0792 | 0 | c.727 others(3): Show |
p.Gln others(4): Show |
RFPL1 | ENSG00000128250.5 | transcript | ENST00000354373.2 | protein_coding | 2/2 | 936/1496 | 727/954 | 243/317 | chr22 | TogoVar | |||
RFX1_chr19_13956530_14011320 | 13993751 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG01109.hp2 HG01928.hp1 others(8): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0001a0003c0003t0003a0003c0003t0008others(3): Show | a0003c0003t0001g0092 a0003c0003t0001g0094 a0003c0003t0001g0095 others(8): Show |
11 | 277 | 0.0397 | 1 | c.92d others(3): Show |
p.Pro others(4): Show |
RFX1 | ENSG00000132005.9 | transcript | ENST00000254325.9 | protein_coding | 2/21 | 362/4375 | 92/2940 | 31/979 | chr19 | TogoVar | |||
RNASE3_chr14_20886385_20897348 | 20889770 | TACTATAG others(7571): Show |
T | transcript_ablation | HIGH | HG02622.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 420 | 0.0024 | -7578 | c.-16 others(11): Show |
p.0? | RNASE3 | ENSG00000169397.4 | transcript | ENST00000304639.4 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124480507 | ATGAATTA others(7632): Show |
A | stop_lost others(2): Show |
HIGH | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 406 | 0.0025 | -7639 | c.181 others(13): Show |
p.Gly others(18): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 2/2 | 182/1995 | 61/664 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||
RNF224_chr9_137222502_137234640 | 137228812 | CCT | C | frameshift_variant | HIGH | HG02109.hp2 HG02257.hp1 HG02572.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0001 a0003c0003t0002g0001 |
12 | 392 | 0.0306 | -2 | c.198 others(9): Show |
p.Cys others(4): Show |
RNF224 | ENSG00000233198.4 | transcript | ENST00000445101.4 | protein_coding | 3/3 | 742/1569 | 198/471 | 66/156 | chr9 | 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 | ||||||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0011others(5): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0005others(9): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show |
117 | 310 | 0.3774 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | TogoVar | |||
SCART1_chr10_133448945_133474760 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show |
93 | 432 | 0.2153 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
SIGIRR_chr11_400716_419999 | 406917 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG01109.hp2 others(4): Show |
a0004a0008 | a0004c0007a0004c0008a0004c0014others(1): Show | a0004c0007t0001a0004c0008t0001a0004c0014t0001others(1): Show | a0004c0007t0001g0088 a0004c0007t0001g0107 a0004c0007t0001g0174 others(4): Show |
7 | 240 | 0.0292 | 1 | c.804 others(4): Show |
p.Ala others(5): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 8/10 | 1134/1743 | 804/1233 | 268/410 | chr11 | 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 | |||
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 | |||||||
SLC22A25_chr11_63153437_63248599 | 63228566 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG02055.hp1 HG02109.hp2 others(27): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0004a0002c0002t0007a0002c0002t0022others(16): Show | a0002c0002t0004g0153 a0002c0002t0007g0154 a0002c0002t0022g0280 others(25): Show |
30 | 342 | 0.0877 | 0 | c.403 others(5): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 4/11 | chr11 | TogoVar | |||||||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | |||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0022a0005c0006t0035others(9): Show | a0005c0006t0005g0002 a0005c0006t0005g0061 a0005c0006t0005g0124 others(30): Show |
34 | 358 | 0.0950 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | TogoVar | |||
SNX27_chr1_151607050_151704080 | 151692406 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0189 a0001c0001t0001g0195 others(65): Show |
70 | 168 | 0.4167 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172889572 | A | G | stop_lost | HIGH | HG02622.hp2 HG03471.hp2 |
a0009a0010 | a0009c0018a0010c0011 | a0009c0018t0003a0010c0011t0003 | a0009c0018t0003g0179 a0010c0011t0003g0009 |
2 | 198 | 0.0101 | 0 | c.170 others(4): Show |
p.Ter others(11): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 11/11 | 1859/2074 | 1708/1710 | 570/569 | chr3 | TogoVar | |||
SPATA22_chr17_3435019_3476819 | 3471678 | GCA | G | splice_donor_variant others(2): Show |
HIGH | HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show |
49 | 418 | 0.1172 | -2 | c.-74 others(13): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81946547 | C | CCAGGATC others(15059): Show |
stop_gained others(1): Show |
HIGH | HG02622.hp1 | a0024 | a0024c0045 | a0024c0045t0002 | a0024c0045t0002g0054 | 1 | 377 | 0.0027 | 15066 | c.264 others(15075): Show |
p.His others(15079): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 4/4 | 2730/4926 | 2644/2754 | 882/917 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPATC1L_chr21_46156160_46189459 | 46183498 | CAGGGGAG others(309): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0003t0004others(5): Show | a0001c0001t0002g0011 a0001c0001t0002g0035 a0001c0001t0002g0062 others(25): Show |
32 | 226 | 0.1416 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 683 | chr21 | TogoVar | ||||||
STAG2_chrX_123956706_124107656 | 124061743 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(18): Show |
21 | 129 | 0.1628 | 2 | c.153 others(15): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SULT1A2_chr16_28586943_28602050 | 28593494 | G | GT | frameshift_variant others(1): Show |
HIGH | HG02258.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0018 | 5 | 416 | 0.0120 | 1 | c.446 others(4): Show |
p.Tyr others(5): Show |
SULT1A2 | ENSG00000197165.11 | transcript | ENST00000335715.9 | protein_coding | 5/8 | 504/1031 | 446/888 | 149/295 | chr16 | TogoVar | |||
SUMO4_chr6_149395262_149406278 | 149400392 | A | G | start_lost | HIGH | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 7 | 416 | 0.0168 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1/1 | 131/1017 | 1/288 | 1/95 | chr6 | TogoVar | |||
SYNE2_chr14_63848004_64231433 | 64093374 | G | A | stop_gained | HIGH | HG00423.hp1 HG00741.hp1 HG01496.hp2 others(25): Show |
a0003a0009a0012others(10): Show | a0003c0002a0003c0015a0003c0034others(16): Show | a0003c0002t0001a0003c0002t0006a0003c0002t0009others(18): Show | a0003c0002t0001g0005 a0003c0002t0001g0006 a0003c0002t0001g0010 others(25): Show |
28 | 148 | 0.1892 | 0 | c.120 others(5): Show |
p.Trp others(5): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 61/116 | 12193/21822 | 12002/20724 | 4001/6907 | 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 |