| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNOT3_chr19_54132762_54160681 | 54133778 | T | TCTCCACC others(609): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 616 | c.-42 others(627): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3983 | chr19 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395247 | C | CGTCCTCC others(609): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03453.hp2 |
a0002a0011 | a0002c0003a0011c0013 | a0002c0003t0002a0011c0013t0005 | a0002c0003t0002g0140a0011c0013t0005g0132 | 2 | 236 | 0.0085 | 616 | c.362 others(635): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(609): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp1 |
a0002a0004 | a0002c0005a0004c0012 | a0002c0005t0002a0004c0012t0004 | a0002c0005t0002g0013a0004c0012t0004g0074 | 2 | 167 | 0.0120 | 616 | c.646 others(631): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(609): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001a0021 | a0001c0007a0021c0036 | a0001c0007t0001a0021c0036t0011 | a0001c0007t0001g0018a0021c0036t0011g0167 | 2 | 167 | 0.0120 | 616 | c.646 others(631): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(609): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 167 | 0.0060 | 616 | c.646 others(631): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132148957 | A | ACTCACAC others(609): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0049 | 1 | 334 | 0.0030 | 616 | c.-46 others(627): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4639 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132149124 | C | CGCCGCCT others(609): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 616 | c.-48 others(627): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4806 | chr12 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 642829 | C | CAGGAAGG others(609): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 345 | 0.0029 | 616 | c.*17 others(627): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1403 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(609): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01361.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0068others(6): Show | 9 | 345 | 0.0261 | 616 | c.150 others(635): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713160 | T | TCCCATCC others(609): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 2 | 412 | 0.0049 | 616 | c.*40 others(627): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1406 | chr19 | TogoVar | ||||||
| DRD4_chr11_632269_645706 | 642829 | C | CAGGAAGG others(609): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 NA18977.hp1 NA19001.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0003c0003t0001g0001 | 3 | 421 | 0.0071 | 616 | c.*22 others(627): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2124 | chr11 | TogoVar | ||||||
| EDEM2_chr20_35110364_35152336 | 35149141 | A | AGGCTTTG others(609): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(149): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(99): Show | 152 | 332 | 0.4578 | 616 | c.-18 others(627): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1806 | chr20 | TogoVar | ||||||
| EDEM2_chr20_35110364_35152336 | 35149141 | A | AGGCTTTG others(609): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02622.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0036a0001c0002t0001g0177 | 3 | 332 | 0.0090 | 616 | c.-18 others(627): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1806 | chr20 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137780276 | T | TGCTGGGA others(609): Show |
intron_variant | MODIFIER | HG01175.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0143 | 2 | 170 | 0.0118 | 616 | c.227 others(634): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(609): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0019 | a0003c0019t0001 | a0003c0019t0001g0279 | 1 | 292 | 0.0034 | 616 | c.228 others(633): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| F5_chr1_169506951_169591481 | 169555633 | T | TCAACCAT others(609): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 306 | 0.0033 | 616 | c.953 others(631): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
| F5_chr1_169506951_169591481 | 169555633 | T | TCAACCAT others(609): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0042 | 1 | 306 | 0.0033 | 616 | c.953 others(631): Show |
F5 | ENSG00000198734.12 | transcript | ENST00000367797.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946560 | A | ATATATAT others(609): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0245 | 2 | 344 | 0.0058 | 616 | c.617 others(633): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9406062 | T | TCTTCCTC others(609): Show |
3_prime_UTR_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0152 | a0001c0001t0152g0091 | 1 | 276 | 0.0036 | 616 | c.*77 others(625): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 771 | chr2 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406396 | C | CGTCTTCC others(609): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0121 | 1 | 276 | 0.0036 | 616 | c.*43 others(625): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 437 | chr2 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406452 | A | AGGCTTCC others(609): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0033 | 1 | 276 | 0.0036 | 616 | c.*38 others(625): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 381 | chr2 | TogoVar | |||||
| ITGB1BP1_chr2_9398475_9428528 | 9406510 | T | TCTTCCTC others(609): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0013 | 2 | 276 | 0.0073 | 616 | c.*32 others(625): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 323 | chr2 | TogoVar | |||||
| KIRREL3_chr11_126418358_127005770 | 126799415 | C | CATGTGTG others(609): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG01346.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(9): Show | a0001c0001t0002g0107a0001c0001t0005g0016a0001c0001t0014g0037others(10): Show | 13 | 114 | 0.1140 | 616 | c.55+ others(635): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATTTAT others(609): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 | 1 | 260 | 0.0039 | 616 | c.125 others(633): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LINGO2_chr9_27932617_29218601 | 28189269 | G | GAGGAAGG others(609): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 62 | 0.0161 | 616 | c.-36 others(637): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 922683 | T | TGCGTGTT others(609): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0007 | 1 | 294 | 0.0034 | 616 | c.514 others(635): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 922683 | T | TGCGTGTT others(609): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01069.hp2 others(3): Show |
a0003 | a0003c0009a0003c0032 | a0003c0009t0001a0003c0032t0001 | a0003c0009t0001g0001a0003c0009t0001g0002a0003c0009t0001g0003others(3): Show | 6 | 294 | 0.0204 | 616 | c.514 others(635): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364392 | C | CGCTTACA others(609): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 290 | 0.0035 | 616 | c.129 others(635): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | ||||||
| LRRC74A_chr14_76821408_76875304 | 76867188 | A | AGTGTGTG others(609): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 408 | 0.0025 | 616 | c.130 others(633): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MALRD1_chr10_19043801_19739478 | 19315431 | A | ATATAATT others(609): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0085 | a0085c0048 | a0085c0048t0002 | a0085c0048t0002g0087 | 1 | 152 | 0.0066 | 616 | c.342 others(635): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 21/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MEGF6_chr1_3482951_3616508 | 3596528 | C | CGCGCCAT others(609): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0024 | 1 | 292 | 0.0034 | 616 | c.267 others(633): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
| MEX3D_chr19_1549672_1573325 | 1550007 | C | CCCATCCA others(609): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0042 | 1 | 372 | 0.0027 | 616 | c.*55 others(627): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4664 | chr19 | TogoVar | ||||||
| MEX3D_chr19_1549672_1573325 | 1550007 | C | CCCATCCA others(609): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0023 | a0001c0023t0016 | a0001c0023t0016g0241 | 1 | 372 | 0.0027 | 616 | c.*55 others(627): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4664 | chr19 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99588981 | A | ACATATAT others(609): Show |
intron_variant | MODIFIER | HG01167.hp1 NA19077.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0051a0004c0004t0001g0052 | 2 | 364 | 0.0055 | 616 | c.394 others(631): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ACATATAT others(609): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0018 | a0018c0024 | a0018c0024t0002 | a0018c0024t0002g0202 | 1 | 364 | 0.0028 | 616 | c.394 others(631): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ATATATAT others(609): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 364 | 0.0028 | 616 | c.394 others(631): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99589035 | A | ATATATAT others(609): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0290a0002c0002t0002g0291 | 2 | 364 | 0.0055 | 616 | c.394 others(631): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
| MTTP_chr4_99569824_99628997 | 99589036 | C | CATATATA others(609): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0275 | 1 | 364 | 0.0028 | 616 | c.394 others(631): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(609): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0199 | 1 | 362 | 0.0028 | 616 | c.-75 others(635): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(609): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0296 | 1 | 356 | 0.0028 | 616 | c.91+ others(629): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132148957 | A | ACTCACAC others(609): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 294 | 0.0034 | 616 | c.901 others(629): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149124 | C | CGCCGCCT others(609): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 294 | 0.0034 | 616 | c.901 others(631): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149534 | C | CACCACAC others(609): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 294 | 0.0034 | 616 | c.901 others(631): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149710 | C | TACCACAC others(609): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0014 | a0014c0028 | a0014c0028t0001 | a0014c0028t0001g0222 | 1 | 294 | 0.0034 | 616 | c.901 others(631): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(609): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0045a0001c0001t0001g0069 | 3 | 242 | 0.0124 | 616 | c.361 others(635): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949126 | C | CCGGCCTC others(609): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 242 | 0.0041 | 616 | c.360 others(635): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(609): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 616 | c.-26 others(627): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 309566 | T | TGTCCCCG others(609): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03471.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019a0001c0001t0005g0271 | 3 | 360 | 0.0083 | 616 | c.368 others(633): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDE10A_chr6_165322289_165668241 | 165619422 | G | GTGTAGGC others(609): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01243.hp1 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0185a0001c0001t0002g0013a0001c0001t0003g0075others(21): Show | 24 | 222 | 0.1081 | 616 | c.865 others(635): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PDE3A_chr12_20363537_20693583 | 20470460 | G | GTTTGAAC others(609): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0138 | a0002c0002t0138g0031 | 1 | 198 | 0.0051 | 616 | c.961 others(635): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |