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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show |
53 | 430 | 0.1233 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | 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 | |||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
172 | 426 | 0.4038 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | |||
SLC28A1_chr15_84879662_84950798 | 84886788 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0021a0001c0038a0002c0039others(3): Show | a0001c0021t0001a0001c0038t0001a0002c0039t0001others(3): Show | a0001c0021t0001g0003 a0001c0021t0001g0260 a0001c0021t0001g0264 others(8): Show |
12 | 394 | 0.0305 | 0 | c.-17 others(5): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 2/18 | chr15 | TogoVar | |||||||
SLC4A4_chr4_71182259_71577083 | 71557709 | C | CA | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG01884.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0026 | a0001c0001t0016g0001 a0001c0001t0016g0026 a0001c0001t0026g0005 |
3 | 150 | 0.0200 | 1 | c.276 others(7): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC4A4_chr4_71334020_71577083 | 71557709 | C | CA | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp1 HG01884.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0024 | a0001c0001t0001g0208 a0001c0001t0018g0152 a0001c0001t0018g0181 others(1): Show |
4 | 232 | 0.0172 | 1 | c.263 others(7): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000340595.4 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC5A9_chr1_48217716_48253638 | 48242556 | G | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp2 HG00639.hp2 others(35): Show |
a0003a0015 | a0003c0003a0003c0008a0015c0022 | a0003c0003t0001a0003c0003t0002a0003c0008t0002others(1): Show | a0003c0003t0001g0005 a0003c0003t0002g0005 a0003c0003t0002g0019 others(24): Show |
38 | 418 | 0.0909 | 0 | c.177 others(4): Show |
p.Glu others(4): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/14 | 1798/3162 | 1777/2046 | 593/681 | chr1 | 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 | ||||||
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 | ||||||
SPANXA2_chrX_141584708_141595762 | 141590631 | C | T | stop_gained | HIGH | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 185 | 0.0054 | 0 | c.217 others(3): Show |
p.Arg others(3): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 2/2 | 277/408 | 217/294 | 73/97 | chrX | 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 | |||||||
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 | |||
SPATC1L_chr21_46156160_46189459 | 46183518 | GGGAGACC others(257): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG02280.hp1 HG02886.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0033 | a0001c0001t0018g0196 a0001c0001t0018g0197 a0001c0001t0033g0198 |
3 | 246 | 0.0122 | -264 | c.-95 others(11): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 703 | chr21 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(6): Show |
77 | 396 | 0.1944 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | 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 | ||||||
SUZ12_chr17_31932007_32006038 | 31966130 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00323.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(16): Show |
19 | 277 | 0.0686 | 1 | c.456 others(6): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110546211 | G | A | stop_gained | HIGH | HG02886.hp2 | a0089 | a0089c0145 | a0089c0145t0001 | a0089c0145t0001g0301 | 1 | 360 | 0.0028 | 0 | c.868 others(3): Show |
p.Arg others(4): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/48 | 1066/12205 | 868/10716 | 290/3571 | chr9 | 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 | ||||||
SYNM_chr15_99100080_99140593 | 99131412 | G | T | stop_gained | HIGH | HG02886.hp2 HG03453.hp2 |
a0035a0038 | a0035c0041a0038c0042 | a0035c0041t0001a0038c0042t0001 | a0035c0041t0001g0208 a0038c0042t0001g0199 |
2 | 418 | 0.0048 | 0 | c.305 others(4): Show |
p.Glu others(5): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 4/4 | 3172/7353 | 3052/4698 | 1018/1565 | chr15 | TogoVar | |||
SYT15_chr10_46574128_46597064 | 46583722 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0020a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0020g0057 a0001c0002t0001g0034 a0001c0002t0002g0006 others(19): Show |
42 | 284 | 0.1479 | 1 | c.652 others(6): Show |
SYT15 | ENSG00000204176.14 | transcript | ENST00000374321.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SYT15_chr10_46574128_46597064 | 46587513 | C | T | stop_gained | HIGH | HG02886.hp2 | a0008 | a0008c0018 | a0008c0018t0003 | a0008c0018t0003g0096 | 1 | 284 | 0.0035 | 0 | c.113 others(4): Show |
p.Gln others(4): Show |
SYT15 | ENSG00000204176.14 | transcript | ENST00000374321.9 | protein_coding | 8/8 | 1173/5724 | 1132/1266 | 378/421 | chr10 | TogoVar | |||
TAAR2_chr6_132612150_132629275 | 132617467 | G | A | stop_gained | HIGH | HG02886.hp1 HG03041.hp1 HG03579.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0040 a0002c0007t0001g0160 |
3 | 450 | 0.0067 | 0 | c.739 others(3): Show |
p.Arg others(4): Show |
TAAR2 | ENSG00000146378.6 | transcript | ENST00000367931.1 | protein_coding | 2/2 | 739/1056 | 739/1056 | 247/351 | chr6 | TogoVar | |||
TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0007 | a0002c0002a0002c0006a0007c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(15): Show |
35 | 378 | 0.0926 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | 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 | ||||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show |
89 | 320 | 0.2781 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | |||||||
TDRD6_chr6_46682885_46709319 | 46691125 | G | A | stop_gained | HIGH | HG02886.hp2 | a0011 | a0011c0024 | a0011c0024t0008 | a0011c0024t0008g0019 | 1 | 410 | 0.0024 | 0 | c.299 others(4): Show |
p.Trp others(4): Show |
TDRD6 | ENSG00000180113.16 | transcript | ENST00000316081.11 | protein_coding | 1/4 | 3241/8967 | 2997/6291 | 999/2096 | chr6 | TogoVar | |||
THEG_chr19_356747_381026 | 373531 | C | T | stop_gained others(1): Show |
HIGH | HG02145.hp2 HG02622.hp1 HG02818.hp1 others(9): Show |
a0004 | a0004c0005a0004c0008a0004c0014others(1): Show | a0004c0005t0002a0004c0005t0010a0004c0005t0011others(7): Show | a0004c0005t0002g0035 a0004c0005t0010g0011 a0004c0005t0011g0037 others(8): Show |
12 | 368 | 0.0326 | 0 | c.504 others(3): Show |
p.Trp others(4): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 4/8 | 560/1649 | 504/1140 | 168/379 | chr19 | 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 | |||
TMEM67_chr8_93749894_93823121 | 93755751 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0274 others(16): Show |
19 | 261 | 0.0728 | 1 | c.224 others(6): Show |
TMEM67 | ENSG00000164953.17 | transcript | ENST00000453321.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01243.hp2 HG01496.hp1 others(13): Show |
a0001a0002a0012others(1): Show | a0001c0004a0001c0005a0002c0001others(4): Show | a0001c0004t0001a0001c0004t0005a0001c0004t0006others(8): Show | a0001c0004t0001g0038 a0001c0004t0005g0260 a0001c0004t0006g0007 others(12): Show |
16 | 197 | 0.0812 | 5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show |
125 | 306 | 0.4085 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS7_chr3_112029736_112086269 | 112061824 | C | T | stop_gained | HIGH | HG02257.hp1 HG02886.hp2 HG03516.hp2 others(1): Show |
a0008 | a0008c0021a0008c0022 | a0008c0021t0001a0008c0022t0001a0008c0022t0010 | a0008c0021t0001g0050 a0008c0021t0001g0051 a0008c0022t0001g0371 others(1): Show |
4 | 418 | 0.0096 | 0 | c.134 others(4): Show |
p.Arg others(4): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 11/18 | 1458/2827 | 1348/2532 | 450/843 | chr3 | 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 | ||||||
TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show |
72 | 268 | 0.2687 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
TRIM17_chr1_228402935_228421861 | 228415115 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp2 HG01109.hp2 HG01261.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0004 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(4): Show |
17 | 410 | 0.0415 | 0 | c.-41 others(5): Show |
TRIM17 | ENSG00000162931.12 | transcript | ENST00000366698.7 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 others(14): Show |
46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | TogoVar | |||
TRPM1_chr15_30996065_31106725 | 31002511 | C | A | stop_gained | HIGH | HG00733.hp2 HG01099.hp1 HG01257.hp2 others(20): Show |
a0005a0007a0008 | a0005c0007a0005c0025a0005c0045others(7): Show | a0005c0007t0001a0005c0025t0001a0005c0045t0001others(7): Show | a0005c0007t0001g0023 a0005c0007t0001g0089 a0005c0007t0001g0091 others(18): Show |
23 | 254 | 0.0906 | 0 | c.418 others(4): Show |
p.Glu others(5): Show |
TRPM1 | ENSG00000134160.17 | transcript | ENST00000256552.11 | protein_coding | 28/28 | 4341/5787 | 4189/4878 | 1397/1625 | chr15 | TogoVar | |||
TTI2_chr8_33493722_33518135 | 33513081 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02055.hp1 HG02145.hp2 HG02818.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0046 |
5 | 396 | 0.0126 | 0 | c.-10 others(6): Show |
TTI2 | ENSG00000129696.13 | transcript | ENST00000431156.7 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UCMA_chr10_13216766_13239374 | 13233286 | ACCTGTCT others(949): Show |
A | exon_loss_variant | HIGH | HG02886.hp1 HG03540.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0254 a0003c0002t0001g0255 |
2 | 462 | 0.0043 | -956 | c.17_ others(10): Show |
UCMA | ENSG00000165623.10 | transcript | ENST00000378681.8 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
UCP3_chr11_73995277_74014085 | 74003826 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 a0001c0002t0004g0055 |
9 | 444 | 0.0203 | 0 | c.824 others(5): Show |
UCP3 | ENSG00000175564.13 | transcript | ENST00000314032.9 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 others(42): Show |
45 | 156 | 0.2885 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VCX3A_chrX_6528618_6540118 | 6534957 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01106.hp1 HG02109.hp1 HG02886.hp1 others(1): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0002t0016a0003c0005t0002others(1): Show | a0001c0001t0001g0014 a0001c0002t0016g0048 a0003c0005t0002g0013 others(1): Show |
4 | 72 | 0.0556 | 0 | c.-14 others(6): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 1/2 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar |