| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTSE_chr1_206004264_206028895 | 206013770 | A | G | splice_donor_variant others(1): Show |
HIGH | HG03486.hp2 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0095 | 1 | 302 | 0.0033 | 0 | c.785 others(5): Show |
CTSE | ENSG00000196188.12 | transcript | ENST00000358184.7 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
| CTSH_chr15_78916058_78950046 | 78927712 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19054.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0054 | 1 | 414 | 0.0024 | 0 | c.699 others(5): Show |
CTSH | ENSG00000103811.18 | transcript | ENST00000220166.10 | protein_coding | 9/11 | chr15 | TogoVar | ||||||
| CTSS_chr1_150725188_150770778 | 150765696 | A | ACGTGATA others(29): Show |
splice_donor_variant others(1): Show |
HIGH | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0213 | 1 | 344 | 0.0029 | 36 | c.-36 others(44): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
| CTXND2_chr1_150882136_150918292 | 150887315 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 372 | 0.0027 | 0 | c.-74 others(5): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
| CWC22_chr2_179939876_180012297 | 179970647 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG03195.hp2 HG03209.hp1 HG06807.hp1 others(1): Show |
a0005 | a0005c0007a0005c0020 | a0005c0007t0002a0005c0020t0002 | a0005c0007t0002g0039a0005c0007t0002g0225a0005c0020t0002g0224 | 4 | 376 | 0.0106 | 1 | c.114 others(7): Show |
CWC22 | ENSG00000163510.14 | transcript | ENST00000410053.8 | protein_coding | 10/19 | chr2 | TogoVar | ||||||
| CXCL6_chr4_73831678_73843760 | 73837287 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 444 | 0.0023 | 0 | c.326 others(5): Show |
CXCL6 | ENSG00000124875.10 | transcript | ENST00000226317.10 | protein_coding | 3/3 | chr4 | TogoVar | ||||||
| CYB5R1_chr1_202956873_202972257 | 202966527 | C | A | splice_donor_variant others(1): Show |
HIGH | NA18960.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0057 | 1 | 450 | 0.0022 | 0 | c.238 others(5): Show |
CYB5R1 | ENSG00000159348.13 | transcript | ENST00000367249.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
| CYLC2_chr9_102990333_103023488 | 103016962 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(409): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(317): Show | 412 | 448 | 0.9196 | 0 | c.*89 others(6): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
| CYP39A1_chr6_46544580_46657818 | 46629865 | ACTGTTGG others(1424): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02723.hp2 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0178 | 1 | 310 | 0.0032 | -1431 | c.733 others(16): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 6/12 | chr6 | TogoVar | ||||||
| CYP4A22_chr1_47132441_47154727 | 47143917 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02922.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 440 | 0.0046 | 0 | c.790 others(5): Show |
CYP4A22 | ENSG00000162365.13 | transcript | ENST00000371891.8 | protein_coding | 6/11 | chr1 | TogoVar | ||||||
| CYP4B1_chr1_46794046_46824413 | 46810950 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02976.hp1 HG03130.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0053a0004c0004t0004g0054 | 2 | 400 | 0.0050 | 0 | c.322 others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15922008 | ATCAGGAA others(33): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG03139.hp1 | a0009 | a0009c0014 | a0009c0014t0007 | a0009c0014t0007g0070 | 1 | 386 | 0.0026 | -40 | c.110 others(52): Show |
p.Ile others(19): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 8/12 | 1104/1575 | 368/524 | chr19 | TogoVar | |||
| CYP4F12_chr19_15668087_15702174 | 15673136 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02723.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0051 | 2 | 410 | 0.0049 | 0 | c.-2+ others(4): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241751375 | AGAGGAAA others(67): Show |
A | frameshift_variant others(3): Show |
HIGH | NA19083.hp1 | a0011 | a0011c0035 | a0011c0035t0001 | a0011c0035t0001g0304 | 1 | 412 | 0.0024 | -74 | c.113 others(86): Show |
p.Arg others(5): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 8/10 | 1288/2566 | 1130/1566 | 377/521 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| DALRD3_chr3_49010488_49023580 | 49017227 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 258 | 0.0039 | 0 | c.927 others(5): Show |
DALRD3 | ENSG00000178149.17 | transcript | ENST00000341949.9 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
| DAOA_chr13_105461045_105496034 | 105467142 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 | 1 | 412 | 0.0024 | 0 | c.133 others(5): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 3/5 | chr13 | TogoVar | ||||||
| DAOA_chr13_105461045_105496034 | 105467143 | T | A | splice_donor_variant others(1): Show |
HIGH | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 412 | 0.0024 | 0 | c.133 others(5): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 3/5 | chr13 | TogoVar | ||||||
| DAW1_chr2_227866631_227929344 | 227893919 | T | G | splice_donor_variant others(1): Show |
HIGH | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 340 | 0.0029 | 0 | c.440 others(5): Show |
DAW1 | ENSG00000123977.10 | transcript | ENST00000309931.3 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
| DAZ2_chrY_23214533_23296356 | 23247631 | GGAGAGTA others(2365): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01243.hp1 HG01261.hp1 others(5): Show |
a0003a0010a0013 | a0003c0003a0010c0009a0013c0012 | a0003c0003t0001a0010c0009t0001a0013c0012t0001 | a0003c0003t0001g0008a0003c0003t0001g0009a0003c0003t0001g0010others(5): Show | 8 | 54 | 0.1482 | -2372 | c.107 others(19): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ2_chrY_23214533_23296356 | 23273519 | CTAGAAAC others(2377): Show |
C | exon_loss_variant others(4): Show |
HIGH | homoSapiens_chm13v2.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0031 | 1 | 54 | 0.0185 | -2384 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ2_chrY_23214533_23296356 | 23274497 | TTGACGGA others(2377): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG03688.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0050 | 1 | 54 | 0.0185 | -2384 | c.165 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24881957 | CTCCCTGA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00140.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003 | 1 | 41 | 0.0244 | -2385 | c.164 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00738.hp1 HG01192.hp1 HG01243.hp1 others(6): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0004a0003c0004t0001g0017a0003c0004t0001g0018others(6): Show | 9 | 41 | 0.2195 | -2385 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DAZ4_chrY_24828919_24912040 | 24885346 | CGTTTATA others(2378): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02735.hp1 NA20805.hp1 |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0001a0004c0003t0001 | a0003c0004t0001g0006a0004c0003t0001g0005 | 2 | 41 | 0.0488 | -2385 | c.171 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 22/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| DBF4B_chr17_44703665_44757264 | 44708840 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG02145.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278others(8): Show | 11 | 288 | 0.0382 | 0 | c.19+ others(4): Show |
DBF4B | ENSG00000161692.18 | transcript | ENST00000315005.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| DCBLD1_chr6_117477674_117554797 | 117521577 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18981.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0271 | 1 | 370 | 0.0027 | 0 | c.512 others(5): Show |
DCBLD1 | ENSG00000164465.19 | transcript | ENST00000338728.10 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
| DCDC2C_chr2_3698575_3853008 | 3778886 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG02145.hp1 HG02486.hp1 others(11): Show |
a0001a0005 | a0001c0005a0005c0010 | a0001c0005t0001a0001c0005t0002a0001c0005t0005others(4): Show | a0001c0005t0001g0229a0001c0005t0001g0231a0001c0005t0001g0248others(11): Show | 14 | 324 | 0.0432 | 0 | c.102 others(6): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
| DCD_chr12_54639589_54653365 | 54647120 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02886.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 2 | 428 | 0.0047 | 0 | c.97+ others(4): Show |
DCD | ENSG00000161634.12 | transcript | ENST00000293371.11 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| DCTN2_chr12_57525051_57552192 | 57547016 | TCCTGTAC others(8): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19012.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0034 | 1 | 352 | 0.0028 | -15 | c.33_ others(23): Show |
p.Ile others(4): Show |
DCTN2 | ENSG00000175203.17 | transcript | ENST00000548249.6 | protein_coding | 1/14 | 33/1206 | 11/401 | chr12 | TogoVar | |||
| DEFA1B_chr8_6991766_7004198 | 6998056 | CACTTTTT others(6135): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG02258.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0029 | 2 | 398 | 0.0050 | -6142 | c.-50 others(13): Show |
DEFA1B | ENSG00000240247.8 | transcript | ENST00000382689.8 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
| DEFA4_chr8_6930820_6943306 | 6936727 | C | A | splice_donor_variant others(1): Show |
HIGH | HG02015.hp2 HG02074.hp1 NA18960.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0005 | 18 | 486 | 0.0370 | 0 | c.172 others(5): Show |
DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| DHDH_chr19_48928699_48949969 | 48935479 | CCACTGCA others(2284): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03704.hp1 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0201 | 1 | 436 | 0.0023 | -2291 | c.202 others(16): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DHRS2_chr14_23631364_23650639 | 23644544 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18985.hp2 | a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0038 | 1 | 446 | 0.0022 | 0 | c.675 others(5): Show |
DHRS2 | ENSG00000100867.15 | transcript | ENST00000250383.11 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
| DHRS9_chr2_169064563_169101167 | 169083588 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 398 | 0.0025 | 0 | c.572 others(5): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
| DHX34_chr19_47344315_47387704 | 47381316 | GGCCCCCA others(40): Show |
G | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0016 | a0016c0023 | a0016c0023t0004 | a0016c0023t0004g0238 | 1 | 382 | 0.0026 | -47 | c.329 others(59): Show |
p.Pro others(6): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 16/17 | 3609/4338 | 3294/3432 | 1098/1143 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| DIAPH2_chrX_96679842_97609997 | 97348277 | T | TTTGGACA others(12): Show |
splice_donor_variant others(1): Show |
HIGH | NA18967.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0130 | 1 | 147 | 0.0068 | 19 | c.300 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
| DMAC2L_chr14_50307324_50332957 | 50314627 | G | T | splice_donor_variant others(1): Show |
HIGH | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0121 | 1 | 400 | 0.0025 | 0 | c.-6+ others(4): Show |
DMAC2L | ENSG00000125375.18 | transcript | ENST00000557421.7 | protein_coding | 2/5 | chr14 | 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 | 122593599 | G | C | splice_donor_variant others(1): Show |
HIGH | HG02738.hp1 | a0015 | a0015c0044 | a0015c0044t0002 | a0015c0044t0002g0088 | 1 | 282 | 0.0036 | 0 | c.253 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 21/55 | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122610240 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 | a0033 | a0033c0070 | a0033c0070t0002 | a0033c0070t0002g0180 | 1 | 282 | 0.0036 | 0 | c.444 others(6): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 35/55 | chr10 | TogoVar | ||||||
| DMTN_chr8_22051814_22087525 | 22080627 | T | A | splice_donor_variant others(1): Show |
HIGH | HG01256.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0261 | 1 | 324 | 0.0031 | 0 | c.957 others(5): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 13/15 | chr8 | 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 | |||
| DNAH12_chr3_57288700_57549344 | 57485474 | TACACCAC others(6439): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02257.hp1 | a0038 | a0038c0040 | a0038c0040t0001 | a0038c0040t0001g0014 | 1 | 266 | 0.0038 | -6446 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/74 | chr3 | TogoVar | ||||||
| DNAH14_chr1_224924675_225404286 | 224967584 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02132.hp2 NA19056.hp2 |
a0033 | a0033c0030 | a0033c0030t0001 | a0033c0030t0001g0236a0033c0030t0001g0237 | 2 | 240 | 0.0083 | 0 | c.651 others(5): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 6/85 | chr1 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78434017 | ACAGCCCC others(121): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02976.hp2 | a0026 | a0026c0019 | a0026c0019t0001 | a0026c0019t0001g0127 | 1 | 252 | 0.0040 | -128 | c.121 others(14): Show |
p.Val others(15): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/81 | 12109/13389 | 4037/4462 | chr17 | TogoVar | |||
| DNAH8_chr6_38710311_39035792 | 38770561 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01255.hp2 HG01891.hp1 HG02559.hp1 others(6): Show |
a0008a0012a0015others(4): Show | a0008c0127a0012c0126a0015c0125others(5): Show | a0008c0127t0001a0012c0126t0001a0015c0125t0001others(5): Show | a0008c0127t0001g0152a0012c0126t0001g0208a0015c0125t0001g0229others(6): Show | 9 | 284 | 0.0317 | 0 | c.176 others(6): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | chr6 | TogoVar | ||||||
| DNAJA4_chr15_78259562_78287191 | 78264896 | G | A | splice_donor_variant others(1): Show |
HIGH | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 442 | 0.0023 | 0 | c.132 others(5): Show |
DNAJA4 | ENSG00000140403.13 | transcript | ENST00000394852.8 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 127418543 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01192.hp1 HG03579.hp2 |
a0001 | a0001c0006a0001c0054 | a0001c0006t0001a0001c0054t0011 | a0001c0006t0001g0041a0001c0054t0011g0024 | 2 | 136 | 0.0147 | 0 | c.469 others(6): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 45/51 | chr10 | TogoVar | ||||||
| DTNBP1_chr6_15517807_15668028 | 15533238 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01255.hp1 HG02055.hp2 HG02280.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0003g0291a0002c0002t0001g0258a0002c0002t0001g0259others(8): Show | 11 | 314 | 0.0350 | 0 | c.667 others(5): Show |
DTNBP1 | ENSG00000047579.20 | transcript | ENST00000344537.10 | protein_coding | 8/9 | chr6 | TogoVar |