regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA4_chr7_102574646_102621756 | 102588790 | AAGTAGCT others(3162): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00733.hp2 HG01346.hp1 HG01517.hp1 others(12): Show |
a0006a0012a0029others(4): Show | a0006c0005a0006c0045a0012c0009others(5): Show | a0006c0005t0006a0006c0005t0008a0006c0005t0022others(9): Show | a0006c0005t0006g0103a0006c0005t0006g0106a0006c0005t0006g0109others(12): Show | 15 | 130 | 0.1154 | -3169 | c.183 others(18): Show |
RASA4 | ENSG00000105808.19 | transcript | ENST00000262940.12 | protein_coding | 17/21 | chr7 | TogoVar | ||||||
RFPL1_chr22_29433583_29447455 | 29441895 | C | T | stop_gained | HIGH | HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show |
a0003a0005a0011 | a0003c0003a0005c0009a0011c0012 | a0003c0003t0003a0005c0009t0003a0011c0012t0003 | a0003c0003t0003g0005a0003c0003t0003g0008a0003c0003t0003g0014others(4): Show | 35 | 444 | 0.0788 | 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 | ||
RFPL4A_chr19_55754097_55768421 | 55759400 | GAGAATTT others(9014): Show |
G | exon_loss_variant | HIGH | NA18747.hp2 NA18983.hp1 |
a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0027 | 2 | 462 | 0.0043 | -9021 | c.-10 others(13): Show |
RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
RGL2_chr6_33286654_33303942 | 33295046 | CTGGTGGT others(4): Show |
C | splice_acceptor_variant others(2): Show |
HIGH | NA18983.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0022 | 1 | 393 | 0.0025 | -11 | c.121 others(25): Show |
RGL2 | ENSG00000237441.10 | transcript | ENST00000497454.6 | protein_coding | 9/17 | chr6 | TogoVar | ||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 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 | |
RNF17_chr13_24759169_24884921 | 24850445 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01943.hp1 HG01993.hp2 others(32): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0001a0005c0005t0001g0026a0005c0005t0001g0095others(31): Show | 35 | 426 | 0.0822 | 0 | c.320 others(6): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 23/35 | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SCRN3_chr2_174390730_174434575 | 174427852 | TTCAAATT others(6): Show |
T | frameshift_variant | HIGH | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(85): Show |
a0000 | a0000c0002a0000c0004a0000c0008 | a0000c0002t0002a0000c0002t0004a0000c0002t0012others(2): Show | a0000c0002t0002g0002a0000c0002t0002g0009a0000c0002t0002g0010others(47): Show | 88 | 364 | 0.2418 | -13 | c.125 others(22): Show |
p.Asn others(5): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 8/8 | 1348/3052 | 1251/1275 | 417/424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
SDR39U1_chr14_24434766_24447776 | 24440157 | G | A | stop_gained | HIGH | NA18941.hp2 NA18955.hp1 NA18983.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0010 | 3 | 462 | 0.0065 | 0 | c.808 others(3): Show |
p.Gln others(4): Show |
SDR39U1 | ENSG00000100445.18 | transcript | ENST00000399395.8 | protein_coding | 6/6 | 815/1206 | 808/882 | 270/293 | chr14 | TogoVar | ||
SHE_chr1_154474481_154507412 | 154489352 | AATTTCTG others(13): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18983.hp2 NA19088.hp1 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0033 | a0003c0004t0001g0162a0003c0004t0033g0123 | 2 | 382 | 0.0052 | -20 | c.719 others(30): Show |
p.Glu others(5): Show |
SHE | ENSG00000169291.10 | transcript | ENST00000304760.3 | protein_coding | 3/6 | 1108/6542 | 719/1488 | 240/495 | chr1 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 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 | ||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 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(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 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 | 63083303 | G | A | stop_gained | HIGH | HG00423.hp2 HG01074.hp2 HG02074.hp2 others(18): Show |
a0006a0015 | a0006c0006a0015c0022 | a0006c0006t0001a0015c0022t0001 | a0006c0006t0001g0269a0006c0006t0001g0311a0006c0006t0001g0316others(18): Show | 21 | 366 | 0.0574 | 0 | c.122 others(4): Show |
p.Gln others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 7/10 | 1667/2101 | 1225/1659 | 409/552 | 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 |
a0003a0007a0013others(2): Show | a0003c0003a0003c0009a0007c0007others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0002a0003c0003t0002g0022others(80): Show | 86 | 366 | 0.2350 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | 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(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -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 | ||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 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 | ||
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 | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 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 | ||
SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0021a0005c0006t0036others(9): Show | a0005c0006t0005g0060a0005c0006t0005g0130a0005c0006t0005g0131others(31): Show | 34 | 360 | 0.0944 | -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 | ||
SLFN14_chr17_35538985_35565819 | 35553178 | G | A | stop_gained | HIGH | NA18983.hp1 NA18992.hp2 |
a0012 | a0012c0017 | a0012c0017t0002 | a0012c0017t0002g0041 | 2 | 428 | 0.0047 | 0 | c.145 others(4): Show |
p.Arg others(4): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 5/6 | 1632/7169 | 1456/2739 | 486/912 | 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(38): Show | a0001c0001t0001g0136a0001c0001t0003g0099a0001c0001t0003g0141others(65): Show | 70 | 366 | 0.1913 | 2 | c.124 others(15): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0012others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0017others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0004others(50): Show | 131 | 460 | 0.2848 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SPP1_chr4_87970714_87988411 | 87982494 | C | A | stop_gained others(1): Show |
HIGH | NA18983.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0104 | 1 | 436 | 0.0023 | 0 | c.543 others(3): Show |
p.Tyr others(4): Show |
SPP1 | ENSG00000118785.15 | transcript | ENST00000395080.8 | protein_coding | 7/7 | 644/1561 | 543/945 | 181/314 | chr4 | TogoVar | ||
SPP1_chr4_87970714_87988411 | 87982523 | C | A | stop_gained | HIGH | NA18983.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0104 | 1 | 436 | 0.0023 | 0 | c.572 others(3): Show |
p.Ser others(4): Show |
SPP1 | ENSG00000118785.15 | transcript | ENST00000395080.8 | protein_coding | 7/7 | 673/1561 | 572/945 | 191/314 | chr4 | TogoVar | ||
SPP1_chr4_87970714_87988411 | 87982531 | G | T | stop_gained | HIGH | NA18983.hp2 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0104 | 1 | 436 | 0.0023 | 0 | c.580 others(3): Show |
p.Glu others(4): Show |
SPP1 | ENSG00000118785.15 | transcript | ENST00000395080.8 | protein_coding | 7/7 | 681/1561 | 580/945 | 194/314 | chr4 | 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(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SSX4_chrX_48378539_48398347 | 48384071 | CT | C | frameshift_variant | HIGH | NA18983.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0047 | 1 | 104 | 0.0096 | -1 | c.21d others(3): Show |
p.Phe others(3): Show |
SSX4 | ENSG00000268009.6 | transcript | ENST00000595689.3 | protein_coding | 2/8 | 67/1209 | 21/567 | 7/188 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
SSX4_chrX_48378539_48398347 | 48384647 | G | GC | frameshift_variant | HIGH | NA18983.hp1 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0047 | 1 | 104 | 0.0096 | 1 | c.157 others(4): Show |
p.Leu others(4): Show |
SSX4 | ENSG00000268009.6 | transcript | ENST00000595689.3 | protein_coding | 3/8 | 204/1209 | 158/567 | 53/188 | INFO_REALIGN_3_PRIME | chrX | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0071others(37): Show | 40 | 276 | 0.1449 | 3 | c.153 others(16): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | 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 |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 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 | ||
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(64): Show |
a0002a0007a0010 | a0002c0002a0007c0010a0010c0009 | a0002c0002t0000a0007c0010t0000a0010c0009t0000 | a0002c0002t0000g0000a0007c0010t0000g0000a0010c0009t0000g0000 | 67 | 295 | 0.2271 | 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 | ||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0162others(85): Show | 89 | 322 | 0.2764 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0002g0301others(115): Show | 118 | 318 | 0.3711 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TEX44_chr2_231587864_231599276 | 231593752 | T | TC | frameshift_variant | HIGH | HG00438.hp1 NA18956.hp1 NA18961.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 13 | 438 | 0.0297 | 1 | c.801 others(8): Show |
p.Glu others(5): Show |
TEX44 | ENSG00000177673.4 | transcript | ENST00000313965.4 | protein_coding | 1/1 | 890/1413 | 802/1188 | 268/395 | chr2 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | ||
TMEM230_chr20_5094850_5118076 | 5111607 | T | A | splice_acceptor_variant others(1): Show |
HIGH | NA18983.hp1 NA18983.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0199 | 3 | 404 | 0.0074 | 0 | c.69- others(4): Show |
TMEM230 | ENSG00000089063.15 | transcript | ENST00000342308.10 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
TMEM232_chr5_110414496_110731671 | 110420735 | G | A | stop_gained | HIGH | HG00099.hp2 HG01106.hp2 HG01261.hp1 others(18): Show |
a0002a0014a0017 | a0002c0003a0002c0009a0002c0023others(2): Show | a0002c0003t0002a0002c0003t0009a0002c0009t0002others(4): Show | a0002c0003t0002g0014a0002c0003t0002g0015a0002c0003t0002g0017others(18): Show | 21 | 250 | 0.0840 | 0 | c.181 others(4): Show |
p.Arg others(4): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 14/14 | 1876/3115 | 1819/1974 | 607/657 | chr5 | TogoVar | ||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TSPY4_chrY_9332464_9345278 | 9337537 | C | CG | frameshift_variant | HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | 1 | c.31d others(3): Show |
p.Val others(4): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 78/1179 | 32/945 | 11/314 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TSPY4_chrY_9332464_9345278 | 9337579 | CG | C | frameshift_variant | HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | -1 | c.73d others(3): Show |
p.Ala others(4): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 119/1179 | 73/945 | 25/314 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TSPY4_chrY_9332464_9345278 | 9337649 | A | AG | frameshift_variant | HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | 1 | c.145 others(4): Show |
p.Ala others(4): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 1/6 | 192/1179 | 146/945 | 49/314 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TSPY4_chrY_9332464_9345278 | 9339094 | A | AG | frameshift_variant | HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | 1 | c.751 others(4): Show |
p.Ala others(5): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 4/6 | 798/1179 | 752/945 | 251/314 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
TSPY4_chrY_9332464_9345278 | 9339155 | C | CA | frameshift_variant | HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | 1 | c.812 others(4): Show |
p.Asn others(5): Show |
TSPY4 | ENSG00000233803.9 | transcript | ENST00000426950.6 | protein_coding | 4/6 | 859/1179 | 813/945 | 271/314 | INFO_REALIGN_3_PRIME | chrY | 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 | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar |