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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1013789 | GGCGCCTC others(3851): Show |
G | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -3858 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013676 | AGACCAGG others(3850): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0003a0001c0009a0001c0011others(2): Show | a0001c0003t0001a0001c0009t0012a0001c0011t0015others(4): Show | a0001c0003t0001g0027 a0001c0009t0012g0006 a0001c0011t0015g0001 others(4): Show |
7 | 38 | 0.1842 | -3857 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCDHB16_chr5_141177387_141191226 | 141187378 | CTGGGGAG others(3841): Show |
C | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 446 | 0.0022 | -3848 | c.*24 others(11): Show |
PCDHB16 | ENSG00000272674.4 | transcript | ENST00000609684.3 | protein_coding | 1153 | chr5 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93520315 | TAGTTCAA others(3839): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 290 | 0.0034 | -3846 | c.-26 others(19): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8620906 | CAGCATGG others(3839): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 NA18612.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0104 a0001c0001t0001g0185 others(2): Show |
5 | 329 | 0.0152 | -3846 | c.*12 others(11): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 1155 | chr4 | TogoVar | |||||||
CHAF1B_chr21_36380392_36424015 | 36403436 | GACAGAGT others(3838): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 344 | 0.0029 | -3845 | c.757 others(16): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DYNC2I2_chr9_128628653_128661847 | 128649709 | ACTGGGCC others(3834): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02258.hp1 HG02280.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0278 a0001c0003t0001g0281 a0001c0003t0001g0283 |
3 | 366 | 0.0082 | -3841 | c.186 others(17): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ZNF492_chr19_22629324_22672671 | 22655917 | CAGGTTCA others(3834): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0238 | 1 | 364 | 0.0027 | -3841 | c.130 others(17): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1235589 | CCCCTCTG others(3832): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0005 | a0004c0005t0037 | a0004c0005t0037g0064 | 1 | 103 | 0.0097 | -3839 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
NLRC5_chr16_56984557_57088520 | 57007057 | TTTTAGAA others(3832): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0016 | 1 | 422 | 0.0024 | -3839 | c.-12 others(20): Show |
NLRC5 | ENSG00000140853.17 | transcript | ENST00000688547.1 | protein_coding | 1/48 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RHBDD1_chr2_226831054_227004210 | 226871250 | ATTTATAA others(3829): Show |
A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 262 | 0.0038 | -3836 | c.566 others(17): Show |
RHBDD1 | ENSG00000144468.17 | transcript | ENST00000392062.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
METTL16_chr17_2411049_2516888 | 2495681 | AAAGACTC others(3816): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0008a0001c0001t0023a0001c0001t0024others(2): Show | a0001c0001t0008g0019 a0001c0001t0023g0020 a0001c0001t0023g0021 others(3): Show |
6 | 296 | 0.0203 | -3823 | c.128 others(17): Show |
METTL16 | ENSG00000127804.13 | transcript | ENST00000263092.11 | protein_coding | 2/9 | chr17 | TogoVar | |||||||
SHISA5_chr3_48462876_48509174 | 48492350 | GTCCCAGC others(3815): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01169.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 others(25): Show |
30 | 288 | 0.1042 | -3822 | c.233 others(17): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
RHBDD1_chr2_226831054_227004210 | 226875114 | TCTTTAGG others(3814): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 262 | 0.0038 | -3821 | c.566 others(18): Show |
RHBDD1 | ENSG00000144468.17 | transcript | ENST00000392062.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MYCT1_chr6_152692897_152729569 | 152708836 | ACCTGAAA others(3811): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(365): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(150): Show |
368 | 442 | 0.8326 | -3818 | c.196 others(18): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
USP17L7_chr8_12127417_12139099 | 12135283 | ATAGCATA others(3809): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02922.hp1 others(12): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
15 | 192 | 0.0781 | -3816 | c.-50 others(11): Show |
USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1185 | chr8 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 173679 | CTGGTCTT others(3805): Show |
C | exon_loss_variant | HIGH | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -3812 | c.-30 others(9): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 1/3 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 173679 | CTGGTCTT others(3805): Show |
C | splice_region_variant | LOW | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -3812 | c.*80 others(9): Show |
HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22625963 | AACAATAA others(3805): Show |
A | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02280.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0014a0002c0002t0061 | a0002c0002t0007g0280 a0002c0002t0007g0289 a0002c0002t0007g0290 others(7): Show |
11 | 360 | 0.0306 | -3812 | c.*39 others(11): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 4965 | chr14 | TogoVar | |||||||
MEFV_chr16_3237027_3261633 | 3257548 | GACCAGCC others(3799): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02723.hp1 |
a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0296 a0001c0018t0002g0297 |
2 | 426 | 0.0047 | -3806 | c.-47 others(10): Show |
MEFV | ENSG00000103313.14 | transcript | ENST00000219596.6 | protein_coding | 916 | chr16 | TogoVar | |||||||
SCLT1_chr4_128878993_129098539 | 129028983 | TCTCACAC others(3799): Show |
T | intron_variant | MODIFIER | HG03669.hp1 HG04115.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0028 a0001c0004t0001g0032 |
2 | 286 | 0.0070 | -3806 | c.290 others(18): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 5/20 | chr4 | TogoVar | |||||||
YY1AP1_chr1_155654454_155693774 | 155689968 | ATAGGGAA others(3799): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(44): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0026 a0001c0001t0001g0122 a0001c0001t0001g0158 others(33): Show |
47 | 276 | 0.1703 | -3806 | c.-52 others(11): Show |
YY1AP1 | ENSG00000163374.20 | transcript | ENST00000355499.9 | protein_coding | 1195 | chr1 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 172005 | CAACCAGT others(3797): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 394 | 0.0025 | -3804 | c.-47 others(10): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4674 | chr16 | TogoVar | |||||||
HBA1_chr16_171680_182522 | 172240 | GTTCCTTC others(3797): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
15 | 393 | 0.0382 | -3804 | c.-44 others(10): Show |
HBA1 | ENSG00000206172.8 | transcript | ENST00000320868.9 | protein_coding | 4439 | chr16 | TogoVar | |||||||
HBA2_chr16_167876_178710 | 172005 | CAACCAGT others(3797): Show |
C | transcript_ablation | HIGH | HG02683.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 382 | 0.0026 | -3804 | c.-90 others(10): Show |
p.0? | HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
HBA2_chr16_167876_178710 | 172240 | GTTCCTTC others(3797): Show |
G | transcript_ablation | HIGH | HG00642.hp2 HG00738.hp2 HG01884.hp2 others(11): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 14 | 380 | 0.0368 | -3804 | c.-67 others(10): Show |
p.0? | HBA2 | ENSG00000188536.13 | transcript | ENST00000251595.11 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138639364 | TGCCTGTA others(3793): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0077 | 1 | 358 | 0.0028 | -3800 | c.789 others(17): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
GVQW3_chr11_76376323_76413132 | 76396562 | ACCTTGGC others(3792): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0085 | 1 | 380 | 0.0026 | -3799 | c.466 others(17): Show |
GVQW3 | ENSG00000179240.13 | transcript | ENST00000529331.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637583 | GTGTCCCA others(3783): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 221 | 0.0045 | -3790 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2277927 | AGAGGGAG others(3782): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0023 | 1 | 48 | 0.0208 | -3789 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
HYAL4_chr7_123840169_123882481 | 123840454 | TGTCTTGG others(3782): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02683.hp1 HG03492.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0082 |
3 | 392 | 0.0077 | -3789 | c.-53 others(11): Show |
HYAL4 | ENSG00000106302.10 | transcript | ENST00000223026.9 | protein_coding | 4714 | chr7 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7744048 | CTGCACAG others(3772): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0012 | a0012c0039 | a0012c0039t0049 | a0012c0039t0049g0064 | 1 | 168 | 0.0060 | -3779 | c.*37 others(11): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1222 | chr4 | TogoVar | |||||||
KAT6A_chr8_41924479_42056987 | 42007916 | CGTGCCAC others(3771): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 372 | 0.0027 | -3778 | c.601 others(19): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
KRTAP4-8_chr17_41091981_41103142 | 41099365 | AAAATGTA others(3770): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 NA20300.hp1 |
a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0000 | 3 | 414 | 0.0072 | -3777 | c.-50 others(11): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1224 | chr17 | TogoVar | |||||||
RAD54B_chr8_94366960_94480115 | 94460721 | AGTTCCTT others(3760): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 360 | 0.0028 | -3767 | c.135 others(17): Show |
RAD54B | ENSG00000197275.14 | transcript | ENST00000336148.10 | protein_coding | 2/14 | chr8 | TogoVar | |||||||
NUP210L_chr1_153987690_154160073 | 154108426 | CCAAAGTG others(3752): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0204 a0001c0003t0001g0210 a0001c0003t0001g0211 others(1): Show |
4 | 288 | 0.0139 | -3759 | c.162 others(19): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 12/39 | chr1 | TogoVar | |||||||
TPM3_chr1_154156813_154197100 | 154185154 | CTGAGGTC others(3752): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0259 a0001c0001t0009g0006 a0001c0001t0009g0260 others(2): Show |
7 | 370 | 0.0189 | -3759 | c.243 others(17): Show |
TPM3 | ENSG00000143549.22 | transcript | ENST00000651641.1 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
ZNG1A_chr9_115837_184056 | 129432 | CAGTTGAA others(3740): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02723.hp2 others(4): Show |
a0002a0004 | a0002c0006a0004c0007 | a0002c0006t0001a0004c0007t0006 | a0002c0006t0001g0347 a0002c0006t0001g0348 a0002c0006t0001g0349 others(4): Show |
7 | 392 | 0.0179 | -3747 | c.816 others(17): Show |
ZNG1A | ENSG00000172785.19 | transcript | ENST00000356521.9 | protein_coding | 11/14 | chr9 | TogoVar | |||||||
ADD2_chr2_70651784_70773200 | 70761501 | AGGAGGCT others(3738): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03516.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0051others(1): Show | a0001c0001t0002g0075 a0001c0001t0011g0077 a0001c0001t0051g0076 others(1): Show |
4 | 300 | 0.0133 | -3745 | c.-15 others(19): Show |
ADD2 | ENSG00000075340.23 | transcript | ENST00000264436.9 | protein_coding | 1/15 | chr2 | TogoVar | |||||||
FAM83F_chr22_39989954_40048534 | 39997536 | ACAAATGC others(3732): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 232 | 0.0043 | -3739 | c.489 others(17): Show |
FAM83F | ENSG00000133477.17 | transcript | ENST00000333407.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LILRB3_chr19_54211278_54228007 | 54224269 | AAACAGTT others(3731): Show |
A | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 261 | 0.0038 | -3738 | c.-50 others(11): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 1263 | chr19 | TogoVar | |||||||
FRMD8_chr11_65381637_65418525 | 65414789 | GCTACAAG others(3729): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 364 | 0.0027 | -3736 | c.*34 others(11): Show |
FRMD8 | ENSG00000126391.14 | transcript | ENST00000317568.10 | protein_coding | 1265 | chr11 | TogoVar | |||||||
MAP7_chr6_136337734_136555422 | 136496381 | GTGAAAAC others(3727): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0013a0006c0006t0006 | a0001c0001t0013g0179 a0006c0006t0006g0180 a0006c0006t0006g0181 others(1): Show |
4 | 246 | 0.0163 | -3734 | c.67+ others(17): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013733 | CTGTGTGT others(3725): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 32 | 0.0313 | -3732 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ENTPD3_chr3_40382184_40433744 | 40397267 | CTGAACAG others(3724): Show |
C | frameshift_variant others(3): Show |
HIGH | HG03516.hp2 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0190 | 1 | 372 | 0.0027 | -3731 | c.169 others(12): Show |
p.Tyr others(4): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 4/11 | 169/1590 | 57/529 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||
DLGAP2_chr8_732628_1713476 | 1013758 | TGCCTCCA others(3723): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 30 | 0.0333 | -3730 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1369935 | CTGCCCAC others(3720): Show |
C | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 113 | 0.0088 | -3727 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29418797 | TGCATTGG others(3719): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show |
a0001a0005a0007 | a0001c0006a0001c0025a0005c0013others(1): Show | a0001c0006t0007a0001c0025t0011a0005c0013t0004others(1): Show | a0001c0006t0007g0056 a0001c0025t0011g0074 a0005c0013t0004g0020 others(1): Show |
4 | 80 | 0.0500 | -3726 | c.115 others(21): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
CYP4F22_chr19_15503525_15557317 | 15553591 | ATCACCTG others(3719): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0374 | 1 | 382 | 0.0026 | -3726 | c.*21 others(11): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 1275 | chr19 | TogoVar | |||||||
TCERG1L_chr10_131087391_131316721 | 131110795 | GTTCAATT others(3714): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(77): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0050 others(77): Show |
80 | 322 | 0.2484 | -3721 | c.139 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 9/11 | chr10 | TogoVar |