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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMA1_chr14_24500353_24513265 | 24507355 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00423.hp2 HG00558.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 6 | 430 | 0.0140 | 0 | c.209 others(5): Show |
CMA1 | ENSG00000092009.10 | transcript | ENST00000250378.7 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CMBL_chr5_10272595_10312902 | 10307624 | C | T | splice_donor_variant others(1): Show |
HIGH | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0039 | 1 | 348 | 0.0029 | 0 | c.-20 others(5): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 1/5 | chr5 | TogoVar | |||||||
CNBD2_chr20_35963590_36035700 | 36011258 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 266 | 0.0038 | 0 | c.126 others(6): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 10/11 | chr20 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31689049 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0005others(1): Show | a0001c0005a0001c0006a0001c0016others(7): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0002others(10): Show | a0001c0005t0001g0100 a0001c0005t0001g0128 a0001c0005t0001g0130 others(15): Show |
18 | 340 | 0.0529 | 0 | c.165 others(6): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 24/70 | chr1 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104033944 | C | G | splice_donor_variant others(1): Show |
HIGH | HG02895.hp1 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0276 | 1 | 334 | 0.0030 | 0 | c.415 others(6): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 52/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45493559 | CCCAGAAA others(49): Show |
C | frameshift_variant others(3): Show |
HIGH | HG04115.hp1 | a0027 | a0027c0083 | a0027c0083t0002 | a0027c0083t0002g0154 | 1 | 290 | 0.0034 | -56 | c.233 others(68): Show |
p.Gln others(5): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 26/42 | 2405/5408 | 2339/4020 | 780/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL18A1_chr21_45400165_45518720 | 45496569 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01496.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0262 | 1 | 290 | 0.0034 | 0 | c.257 others(6): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 30/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45497073 | CGGGCCTC others(32): Show |
C | splice_donor_variant others(3): Show |
HIGH | HG02257.hp1 | a0019 | a0019c0067 | a0019c0067t0001 | a0019c0067t0001g0012 | 1 | 290 | 0.0034 | -39 | c.260 others(51): Show |
p.Pro others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 31/42 | 2669/5408 | 2603/4020 | 868/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL18A1_chr21_45400165_45518720 | 45509603 | T | G | splice_donor_variant others(1): Show |
HIGH | HG02132.hp1 | a0018 | a0018c0072 | a0018c0072t0001 | a0018c0072t0001g0097 | 1 | 290 | 0.0034 | 0 | c.349 others(6): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 39/41 | chr21 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 70142077 | G | T | splice_donor_variant others(1): Show |
HIGH | HG03486.hp1 | a0004 | a0004c0017 | a0004c0017t0026 | a0004c0017t0026g0130 | 1 | 180 | 0.0056 | 0 | c.157 others(6): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 22/50 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178263111 | TGCACTAG others(1361): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00639.hp1 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0117 | 1 | 236 | 0.0042 | -1368 | c.523 others(15): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 9/29 | chr5 | TogoVar | |||||||
COL6A5_chr3_130340672_130489846 | 130413180 | CTCCCATG others(873): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp2 HG01515.hp1 |
a0026 | a0026c0089a0026c0090 | a0026c0089t0002a0026c0090t0002 | a0026c0089t0002g0198 a0026c0090t0002g0276 |
2 | 290 | 0.0069 | -880 | c.466 others(15): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130563666 | T | C | splice_donor_variant others(1): Show |
HIGH | HG02083.hp1 | a0013 | a0013c0012 | a0013c0012t0006 | a0013c0012t0006g0086 | 1 | 262 | 0.0038 | 0 | c.661 others(5): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3/36 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130621884 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0202 | 1 | 262 | 0.0038 | 0 | c.487 others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 24/36 | chr3 | TogoVar | |||||||
COL7A1_chr3_48559073_48600329 | 48594366 | A | G | splice_donor_variant others(1): Show |
HIGH | HG03017.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 234 | 0.0043 | 0 | c.266 others(5): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 3/118 | chr3 | TogoVar | |||||||
COQ6_chr14_73945302_73968670 | 73958272 | TTGTTGGT others(9): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19075.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0074 | 1 | 454 | 0.0022 | -16 | c.609 others(26): Show |
p.Leu others(5): Show |
COQ6 | ENSG00000119723.17 | transcript | ENST00000334571.7 | protein_coding | 5/12 | 640/2109 | 609/1407 | 203/468 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
CORIN_chr4_47589001_47843067 | 47837885 | A | G | splice_donor_variant others(1): Show |
HIGH | HG01109.hp1 | a0011 | a0011c0014 | a0011c0014t0003 | a0011c0014t0003g0004 | 1 | 262 | 0.0038 | 0 | c.63+ others(4): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
CORIN_chr4_47589001_47843067 | 47837886 | C | G | splice_donor_variant others(1): Show |
HIGH | HG01109.hp1 | a0011 | a0011c0014 | a0011c0014t0003 | a0011c0014t0003g0004 | 1 | 262 | 0.0038 | 0 | c.63+ others(4): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
CORO7_chr16_4349542_4421596 | 4364773 | A | C | splice_donor_variant others(1): Show |
HIGH | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 296 | 0.0034 | 0 | c.104 others(6): Show |
CORO7 | ENSG00000262246.6 | transcript | ENST00000251166.9 | protein_coding | 12/27 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89585766 | AGGCCTTT others(67): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18747.hp2 | a0008 | a0008c0019 | a0008c0019t0002 | a0008c0019t0002g0246 | 1 | 346 | 0.0029 | -74 | c.768 others(84): Show |
p.Phe others(5): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 7/15 | 908/2442 | 768/1677 | 256/558 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
CPPED1_chr16_12654799_12808887 | 12697915 | CAGCCTGG others(17541): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 288 | 0.0035 | -17548 | c.290 others(18): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 3/4 | chr16 | TogoVar | |||||||
CPT1B_chr22_50563861_50583427 | 50574491 | A | C | splice_donor_variant others(1): Show |
HIGH | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 412 | 0.0024 | 0 | c.885 others(5): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 8/19 | chr22 | TogoVar | |||||||
CPT1B_chr22_50563861_50583427 | 50574492 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 412 | 0.0024 | 0 | c.885 others(5): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 8/19 | chr22 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29029404 | GTGTCCAT others(10905): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0206 | 1 | 280 | 0.0036 | -10912 | c.113 others(19): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/13 | chr7 | TogoVar | |||||||
CRISP1_chr6_49829257_49871535 | 49866427 | A | T | splice_donor_variant others(1): Show |
HIGH | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 376 | 0.0027 | 0 | c.-3+ others(4): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240932910 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00741.hp2 HG01069.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 a0002c0002t0001g0011 a0002c0002t0001g0012 |
3 | 348 | 0.0086 | 0 | c.125 others(6): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 9/31 | chr2 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151436179 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 450 | 0.0022 | 0 | c.416 others(5): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
CSH2_chr17_63867016_63878677 | 63872834 | C | T | splice_donor_variant others(1): Show |
HIGH | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 410 | 0.0024 | 0 | c.291 others(5): Show |
CSH2 | ENSG00000213218.11 | transcript | ENST00000392886.7 | protein_coding | 3/4 | chr17 | TogoVar | |||||||
CSK_chr15_74777080_74808197 | 74782719 | AGGTGAGT others(40): Show |
A | splice_donor_variant others(2): Show |
HIGH | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0052 | 1 | 392 | 0.0026 | -47 | c.-66 others(59): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64355987 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 174 | 0.0057 | 0 | c.-22 others(6): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CSNK1G2_chr19_1936172_1986338 | 1979404 | G | C | splice_donor_variant others(1): Show |
HIGH | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0335 | 1 | 380 | 0.0026 | 0 | c.853 others(5): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
CSPG5_chr3_47557238_47583865 | 47569151 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 360 | 0.0028 | 0 | c.145 others(6): Show |
CSPG5 | ENSG00000114646.10 | transcript | ENST00000264723.9 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
CSTL1_chr20_23434685_23449930 | 23444046 | T | C | splice_donor_variant others(1): Show |
HIGH | NA18953.hp1 NA18954.hp1 NA18966.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0019 | 4 | 450 | 0.0089 | 0 | c.330 others(5): Show |
CSTL1 | ENSG00000125823.13 | transcript | ENST00000347397.5 | protein_coding | 3/3 | chr20 | TogoVar | |||||||
CT47A3_chrX_120967746_120981068 | 120975067 | C | T | splice_donor_variant others(1): Show |
HIGH | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 201 | 0.0050 | 0 | c.742 others(5): Show |
CT47A3 | ENSG00000236126.3 | transcript | ENST00000441330.3 | protein_coding | 1/2 | chrX | TogoVar | |||||||
CTH_chr1_70406268_70444851 | 70435178 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0109 | 1 | 422 | 0.0024 | 0 | c.105 others(6): Show |
CTH | ENSG00000116761.12 | transcript | ENST00000370938.8 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
CTSE_chr1_206004264_206028895 | 206013770 | A | G | splice_donor_variant others(1): Show |
HIGH | HG03486.hp2 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0095 | 1 | 300 | 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 | a0003c0004t0005g0066 | 1 | 412 | 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 | a0001c0001t0003g0190 | 1 | 342 | 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 | a0001c0001t0001g0044 | 1 | 370 | 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 | a0005c0007t0002g0039 a0005c0007t0002g0226 a0005c0020t0002g0225 |
4 | 374 | 0.0107 | 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 | 442 | 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 | a0002c0009t0001g0052 | 1 | 448 | 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(408): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0016 others(258): Show |
411 | 446 | 0.9215 | 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 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0178 | 1 | 308 | 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 | 438 | 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 | a0004c0004t0004g0052 a0004c0004t0004g0053 |
2 | 398 | 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 | a0011 | a0011c0014 | a0011c0014t0009 | a0011c0014t0009g0069 | 1 | 384 | 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 | a0001c0001t0001g0051 a0001c0001t0001g0052 |
2 | 408 | 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 | a0020 | a0020c0035 | a0020c0035t0001 | a0020c0035t0001g0302 | 1 | 410 | 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 | 256 | 0.0039 | 0 | c.927 others(5): Show |
DALRD3 | ENSG00000178149.17 | transcript | ENST00000341949.9 | protein_coding | 5/11 | chr3 | TogoVar |