| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DLG3_chrX_70439835_70510490 | 70451874 | TGC | T | frameshift_variant | HIGH | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | -2 | c.994 others(9): Show |
p.Ala others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1361/6042 | 994/2454 | 332/817 | chrX | TogoVar | ||
| DLG3_chrX_70439835_70510490 | 70451901 | T | TTTCG | frameshift_variant | HIGH | NA18959.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0172 | 1 | 278 | 0.0036 | 4 | c.102 others(13): Show |
p.Asn others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1388/6042 | 1021/2454 | 341/817 | chrX | TogoVar | ||
| DLG3_chrX_70439835_70510490 | 70451967 | TC | T | frameshift_variant | HIGH | NA19058.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0246 | 1 | 278 | 0.0036 | -1 | c.109 others(5): Show |
p.Thr others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 7/19 | 1459/6042 | 1092/2454 | 364/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DLG3_chrX_70439835_70510490 | 70453710 | G | GA | frameshift_variant | HIGH | NA18949.hp1 | a0006 | a0006c0006 | a0006c0006t0015 | a0006c0006t0015g0057 | 1 | 278 | 0.0036 | 1 | c.122 others(5): Show |
p.Gly others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 8/19 | 1589/6042 | 1222/2454 | 408/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DLG3_chrX_70439835_70510490 | 70453716 | A | AT | frameshift_variant | HIGH | NA18988.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0129 | 1 | 278 | 0.0036 | 1 | c.123 others(5): Show |
p.Val others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 8/19 | 1598/6042 | 1231/2454 | 411/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DLG3_chrX_70439835_70510490 | 70454254 | C | CT | frameshift_variant | HIGH | NA18949.hp1 | a0006 | a0006c0006 | a0006c0006t0015 | a0006c0006t0015g0057 | 1 | 278 | 0.0036 | 1 | c.134 others(5): Show |
p.Ala others(5): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 9/19 | 1712/6042 | 1345/2454 | 449/817 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DLL3_chr19_39493947_39513469 | 39505294 | C | CG | frameshift_variant | HIGH | HG02056.hp1 NA18949.hp2 NA18960.hp1 others(6): Show |
a0005a0009 | a0005c0005a0009c0016 | a0005c0005t0001a0009c0016t0001 | a0005c0005t0001g0002a0005c0005t0001g0033a0005c0005t0001g0041others(4): Show | 9 | 428 | 0.0210 | 1 | c.940 others(4): Show |
p.Val others(5): Show |
DLL3 | ENSG00000090932.11 | transcript | ENST00000356433.10 | protein_coding | 6/9 | 969/2004 | 941/1764 | 314/587 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| DMAP1_chr1_44208471_44225673 | 44219457 | GTCACGCT others(17): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0040 | 1 | 408 | 0.0025 | -24 | c.959 others(33): Show |
p.Val others(5): Show |
DMAP1 | ENSG00000178028.14 | transcript | ENST00000372289.7 | protein_coding | 7/10 | 1242/1742 | 959/1404 | 320/467 | chr1 | TogoVar | ||
| DMBT1_chr10_122555754_122648736 | 122600603 | A | ACCAGAAA others(4051): Show |
frameshift_variant others(1): Show |
HIGH | HG00544.hp1 NA19090.hp2 |
a0005 | a0005c0007a0005c0066 | a0005c0007t0004a0005c0066t0002 | a0005c0007t0004g0215a0005c0066t0002g0216 | 2 | 282 | 0.0071 | 4058 | c.350 others(4067): Show |
p.Met others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 29/56 | 3523/7984 | 3506/7629 | 1169/2542 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| DMD_chrX_31114222_33216549 | 32644246 | A | AG | frameshift_variant | HIGH | NA18961.hp1 | a0035 | a0035c0029 | a0035c0029t0001 | a0035c0029t0001g0071 | 1 | 126 | 0.0079 | 1 | c.121 others(5): Show |
p.Leu others(5): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 11/79 | 1453/13992 | 1216/11058 | 406/3685 | chrX | TogoVar | ||
| DMD_chrX_31114222_33216549 | 32699144 | GA | G | frameshift_variant | HIGH | NA18965.hp1 | a0036 | a0036c0021 | a0036c0021t0017 | a0036c0021t0017g0009 | 1 | 126 | 0.0079 | -1 | c.798 others(4): Show |
p.Gln others(5): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 8/79 | 1035/13992 | 798/11058 | 266/3685 | chrX | TogoVar | ||
| DMD_chrX_31114222_33216549 | 32699197 | TG | T | frameshift_variant | HIGH | NA18965.hp1 | a0036 | a0036c0021 | a0036c0021t0017 | a0036c0021t0017g0009 | 1 | 126 | 0.0079 | -1 | c.745 others(4): Show |
p.Gln others(5): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 8/79 | 982/13992 | 745/11058 | 249/3685 | chrX | TogoVar | ||
| DMRTC1B_chrX_72771890_72853803 | 72845905 | G | GC | frameshift_variant | HIGH | HG01934.hp2 | a0006 | a0006c0006 | a0006c0006t0017 | a0006c0006t0017g0017 | 1 | 26 | 0.0385 | 1 | c.161 others(4): Show |
p.Glu others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/7 | 615/1460 | 162/579 | 54/192 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DMRTC1B_chrX_72771890_72853803 | 72845937 | AG | A | frameshift_variant | HIGH | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | -1 | c.190 others(4): Show |
p.Val others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/7 | 643/1460 | 190/579 | 64/192 | chrX | TogoVar | ||
| DMRTC1B_chrX_72771890_72853803 | 72845992 | GC | G | frameshift_variant | HIGH | HG01167.hp1 | a0003 | a0003c0005 | a0003c0005t0021 | a0003c0005t0021g0025 | 1 | 26 | 0.0385 | -1 | c.247 others(4): Show |
p.Leu others(4): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 4/7 | 700/1460 | 247/579 | 83/192 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DMRTC1B_chrX_72771890_72853803 | 72847215 | T | TG | frameshift_variant | HIGH | NA19070.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0007 | 1 | 26 | 0.0385 | 1 | c.405 others(4): Show |
p.Arg others(5): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 6/7 | 859/1460 | 406/579 | 136/192 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DMRTC1B_chrX_72771890_72853803 | 72847226 | GC | G | frameshift_variant | HIGH | HG01256.hp2 | a0005 | a0005c0003 | a0005c0003t0004 | a0005c0003t0004g0024 | 1 | 26 | 0.0385 | -1 | c.418 others(4): Show |
p.Gln others(5): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 6/7 | 871/1460 | 418/579 | 140/192 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DNA2_chr10_68409064_68476973 | 68471789 | ACAGCTCC others(5): Show |
A | frameshift_variant others(3): Show |
HIGH | HG04115.hp2 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0322 | 1 | 326 | 0.0031 | -12 | c.64_ others(19): Show |
p.Pro others(4): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 1/21 | 64/3183 | 22/1060 | chr10 | TogoVar | |||
| DNAAF6_chrX_107201611_107249247 | 107216715 | TG | T | frameshift_variant | HIGH | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 296 | 0.0034 | -1 | c.200 others(4): Show |
p.Gly others(4): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 3/7 | 283/1677 | 200/645 | 67/214 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DNAH12_chr3_57288700_57549344 | 57483375 | C | CATAGTGA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18940.hp1 | a0048 | a0048c0052 | a0048c0052t0001 | a0048c0052t0001g0239 | 1 | 266 | 0.0038 | 11 | c.165 others(22): Show |
p.Glu others(5): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/74 | 1831/12145 | 1650/11883 | 550/3960 | chr3 | TogoVar | ||
| DNAH17_chr17_78418697_78582396 | 78571762 | TTGTCCAG others(21): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03654.hp2 | a0145 | a0145c0027 | a0145c0027t0001 | a0145c0027t0001g0031 | 1 | 252 | 0.0040 | -28 | c.540 others(37): Show |
p.Ile others(5): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 4/81 | 686/13725 | 540/13389 | 180/4462 | chr17 | TogoVar | ||
| DNAJB7_chr22_40854549_40867113 | 40861830 | T | TA | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp1 others(13): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 16 | 410 | 0.0390 | 1 | c.164 others(4): Show |
p.Leu others(4): Show |
DNAJB7 | ENSG00000172404.5 | transcript | ENST00000307221.5 | protein_coding | 1/1 | 283/2565 | 164/930 | 55/309 | chr22 | TogoVar | ||
| DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | TogoVar | ||
| DNASE1L1_chrX_154396236_154414254 | 154403145 | T | TC | frameshift_variant | HIGH | NA18953.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0126 | 1 | 279 | 0.0036 | 1 | c.570 others(4): Show |
p.Thr others(5): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 7/8 | 800/2610 | 570/909 | 190/302 | chrX | TogoVar | ||
| DNASE1L1_chrX_154396236_154414254 | 154403619 | T | TG | frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0005 | a0005c0005 | a0005c0005t0027 | a0005c0005t0027g0157 | 1 | 279 | 0.0036 | 1 | c.314 others(4): Show |
p.His others(5): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 5/8 | 544/2610 | 314/909 | 105/302 | chrX | TogoVar | ||
| DNASE1L1_chrX_154396236_154414254 | 154404846 | G | GT | frameshift_variant | HIGH | NA19063.hp1 | a0005 | a0005c0005 | a0005c0005t0027 | a0005c0005t0027g0157 | 1 | 279 | 0.0036 | 1 | c.292 others(4): Show |
p.Thr others(4): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 4/8 | 522/2610 | 292/909 | 98/302 | chrX | TogoVar | ||
| DNASE1L1_chrX_154396236_154414254 | 154405520 | GGGCCCCA others(7): Show |
G | frameshift_variant | HIGH | NA19063.hp1 | a0005 | a0005c0005 | a0005c0005t0027 | a0005c0005t0027g0157 | 1 | 279 | 0.0036 | -14 | c.35_ others(19): Show |
p.Leu others(4): Show |
DNASE1L1 | ENSG00000013563.14 | transcript | ENST00000369807.6 | protein_coding | 2/8 | 278/2610 | 35/909 | 12/302 | chrX | TogoVar | ||
| DNASE1_chr16_3649691_3663095 | 3656047 | CCAGAGGG others(49): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0033 | 1 | 440 | 0.0023 | -56 | c.237 others(66): Show |
p.Asp others(4): Show |
DNASE1 | ENSG00000213918.11 | transcript | ENST00000246949.10 | protein_coding | 4/9 | 237/849 | 79/282 | chr16 | TogoVar | |||
| DNM2_chr19_10713079_10836903 | 10823862 | C | CCCCACAC others(28): Show |
frameshift_variant | HIGH | NA20805.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0267 | 1 | 278 | 0.0036 | 35 | c.185 others(44): Show |
p.Phe others(5): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 17/21 | 2021/3633 | 1857/2613 | 619/870 | chr19 | TogoVar | ||
| DOCK11_chrX_118490815_118691147 | 118542941 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0009 | a0009c0006 | a0009c0006t0001 | a0009c0006t0001g0038 | 1 | 211 | 0.0047 | 1 | c.236 others(4): Show |
p.Gln others(4): Show |
DOCK11 | ENSG00000147251.16 | transcript | ENST00000276202.9 | protein_coding | 3/53 | 394/6719 | 237/6222 | 79/2073 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DOK1_chr2_74549720_74562551 | 74555939 | GCTGTGGC others(4): Show |
G | frameshift_variant | HIGH | HG01109.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0001 | 1 | 334 | 0.0030 | -11 | c.501 others(18): Show |
p.Cys others(5): Show |
DOK1 | ENSG00000115325.14 | transcript | ENST00000233668.10 | protein_coding | 4/5 | 536/1918 | 501/1446 | 167/481 | chr2 | TogoVar | ||
| DOP1A_chr6_83062671_83173471 | 83138579 | AGTTTTAT others(3): Show |
A | frameshift_variant | HIGH | HG03516.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0129 | 1 | 298 | 0.0034 | -10 | c.453 others(19): Show |
p.Ser others(6): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 21/39 | 4793/7957 | 4538/7398 | 1513/2465 | chr6 | TogoVar | ||
| DPM3_chr1_155134891_155145531 | 155139995 | TCGGGCCT others(6): Show |
T | frameshift_variant | HIGH | NA18984.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0006 | 1 | 350 | 0.0029 | -13 | c.233 others(20): Show |
p.Ile others(4): Show |
DPM3 | ENSG00000179085.8 | transcript | ENST00000368400.5 | protein_coding | 2/2 | 291/396 | 233/279 | 78/92 | chr1 | TogoVar | ||
| DPP7_chr9_137105546_137119733 | 137110665 | G | GC | frameshift_variant | HIGH | HG01243.hp2 HG01891.hp1 HG02055.hp2 others(12): Show |
a0000 | a0000c0005a0000c0021a0000c0023 | a0000c0005t0001a0000c0021t0001a0000c0023t0001 | a0000c0005t0001g0010a0000c0005t0001g0081a0000c0005t0001g0082others(6): Show | 15 | 454 | 0.0330 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 13/13 | 1481/1601 | 1461/1479 | 487/492 | chr9 | TogoVar | ||
| DRC7_chr16_57689806_57736805 | 57724752 | C | CTCTCCTA others(31): Show |
frameshift_variant | HIGH | NA18522.hp1 | a0026 | a0026c0036 | a0026c0036t0001 | a0026c0036t0001g0294 | 1 | 388 | 0.0026 | 38 | c.167 others(47): Show |
p.Lys others(5): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 13/19 | 1929/3387 | 1714/2625 | 572/874 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| DRC7_chr16_57689806_57736805 | 57726876 | G | GCCTTAAT others(22): Show |
frameshift_variant others(1): Show |
HIGH | NA18940.hp2 | a0015 | a0015c0039 | a0015c0039t0001 | a0015c0039t0001g0160 | 1 | 388 | 0.0026 | 29 | c.201 others(38): Show |
p.Ala others(5): Show |
DRC7 | ENSG00000159625.15 | transcript | ENST00000360716.8 | protein_coding | 15/19 | 2235/3387 | 2020/2625 | 674/874 | chr16 | TogoVar | ||
| DRD1_chr5_175435036_175449182 | 175443071 | T | TCCATGGC others(10): Show |
frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0035 | 1 | 490 | 0.0020 | 17 | c.12_ others(22): Show |
p.Asp others(4): Show |
DRD1 | ENSG00000184845.4 | transcript | ENST00000393752.3 | protein_coding | 2/2 | 995/4031 | 28/1341 | 10/446 | chr5 | TogoVar | ||
| DRD4_chr11_632269_645706 | 639791 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00642.hp2 HG01109.hp2 others(10): Show |
a0000 | a0000c0007a0000c0011a0000c0030others(2): Show | a0000c0007t0001a0000c0007t0002a0000c0011t0001others(3): Show | a0000c0007t0001g0001a0000c0007t0001g0003a0000c0007t0001g0005others(7): Show | 13 | 421 | 0.0309 | 1 | c.546 others(4): Show |
p.Ala others(5): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 583/1399 | 547/1260 | 183/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| DRD4_chr11_632269_645706 | 640090 | G | GCCGCGCC others(139): Show |
frameshift_variant | HIGH | HG02602.hp2 | a0025 | a0025c0042 | a0025c0042t0001 | a0025c0042t0001g0002 | 1 | 421 | 0.0024 | 146 | c.849 others(153): Show |
p.Ser others(5): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 886/1399 | 850/1260 | 284/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| DRD4_chr11_632269_645706 | 640134 | G | GCCCCCCG others(138): Show |
frameshift_variant | HIGH | HG01192.hp2 | a0000 | a0000c0045 | a0000c0045t0001 | a0000c0045t0001g0002 | 1 | 421 | 0.0024 | 145 | c.907 others(152): Show |
p.Pro others(5): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 3/4 | 944/1399 | 908/1260 | 303/419 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| DROSHA_chr5_31395494_31537093 | 31526688 | GGGAAGGG others(30): Show |
G | frameshift_variant | HIGH | NA19001.hp1 | a0008 | a0008c0036 | a0008c0036t0003 | a0008c0036t0003g0083 | 1 | 322 | 0.0031 | -37 | c.208 others(44): Show |
p.Asn others(4): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 5/36 | 597/5416 | 208/4125 | 70/1374 | chr5 | TogoVar | ||
| DRP2_chrX_101214786_101269502 | 101250978 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0132 | 1 | 260 | 0.0039 | 1 | c.176 others(5): Show |
p.Ser others(5): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 16/24 | 2289/7282 | 1762/2874 | 588/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DRP2_chrX_101214786_101269502 | 101251005 | AT | A | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0132 | 1 | 260 | 0.0039 | -1 | c.178 others(5): Show |
p.Arg others(5): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 16/24 | 2315/7282 | 1788/2874 | 596/957 | chrX | TogoVar | ||
| DRP2_chrX_101214786_101269502 | 101254917 | GC | G | frameshift_variant | HIGH | NA19075.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0132 | 1 | 260 | 0.0039 | -1 | c.217 others(5): Show |
p.Ser others(5): Show |
DRP2 | ENSG00000102385.13 | transcript | ENST00000395209.8 | protein_coding | 19/24 | 2702/7282 | 2175/2874 | 725/957 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| DST_chr6_56609597_56647889 | 56615741 | T | TTGATAAC others(12): Show |
frameshift_variant | HIGH | NA19085.hp1 | a0018 | a0018c0033 | a0018c0033t0001 | a0018c0033t0001g0102 | 1 | 326 | 0.0031 | 19 | c.770 others(28): Show |
p.Ile others(6): Show |
DST | ENSG00000151914.22 | transcript | ENST00000370765.11 | protein_coding | 24/24 | 7826/8971 | 7725/7950 | 2575/2649 | chr6 | TogoVar | ||
| DTX2_chr7_76456709_76510991 | 76482880 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01243.hp2 HG02055.hp1 others(7): Show |
a0005a0008 | a0005c0009a0005c0025a0005c0026others(3): Show | a0005c0009t0002a0005c0009t0008a0005c0025t0001others(4): Show | a0005c0009t0002g0101a0005c0009t0002g0162a0005c0009t0002g0164others(7): Show | 10 | 280 | 0.0357 | 1 | c.643 others(4): Show |
p.Arg others(5): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/11 | 1026/2641 | 644/1869 | 215/622 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
| DUSP15_chr20_31856077_31875527 | 31861504 | GCGGCACC others(10): Show |
G | frameshift_variant | HIGH | NA19068.hp2 | a0000 | a0000c0009 | a0000c0009t0001 | a0000c0009t0001g0132 | 1 | 378 | 0.0027 | -17 | c.590 others(24): Show |
p.Val others(5): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 7/7 | 796/1224 | 590/708 | 197/235 | chr20 | TogoVar | ||
| DUSP15_chr20_31856077_31875527 | 31870321 | G | GGGGTATT others(3): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0051 | 1 | 378 | 0.0027 | 10 | c.16_ others(15): Show |
p.Thr others(3): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 1/7 | 206/1224 | 16/708 | 6/235 | chr20 | TogoVar |