| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(606): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0005 | a0005c0023 | a0005c0023t0001 | a0005c0023t0001g0263 | 1 | 420 | 0.0024 | 613 | c.107 others(630): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
| SPACA5B_chrX_48125626_48137620 | 48134934 | A | AAGCACTT others(606): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 312 | 0.0096 | 613 | c.*24 others(624): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2315 | chrX | TogoVar | ||||||
| SPACA5B_chrX_48125626_48137620 | 48134934 | A | AAGCACTT others(606): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00738.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(2): Show | 40 | 312 | 0.1282 | 613 | c.*24 others(624): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2315 | chrX | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376928 | T | TGTGCCCC others(606): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 370 | 0.0027 | 613 | c.-95 others(622): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 903 | chr19 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2418961 | T | TCCCTCCA others(606): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0011 | a0011c0032 | a0011c0032t0002 | a0011c0032t0002g0065 | 1 | 114 | 0.0088 | 613 | c.215 others(630): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
| TNS3_chr7_47270154_47587111 | 47363030 | T | TCACCATC others(606): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0022 | 1 | 196 | 0.0051 | 613 | c.228 others(632): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 17/30 | chr7 | TogoVar | ||||||
| TOX_chr8_58800412_59124147 | 59092319 | A | ATTATATA others(606): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0001 | 1 | 224 | 0.0045 | 613 | c.102 others(632): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(606): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(19): Show |
a0004a0005a0006others(1): Show | a0004c0007a0004c0012a0005c0021others(2): Show | a0004c0007t0003a0004c0012t0001a0005c0021t0001others(2): Show | a0004c0007t0003g0017a0004c0007t0003g0018a0004c0007t0003g0023others(18): Show | 22 | 372 | 0.0591 | 613 | c.230 others(628): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | ||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(606): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02258.hp1 others(8): Show |
a0002a0004a0008others(1): Show | a0002c0037a0004c0007a0004c0035others(3): Show | a0002c0037t0001a0004c0007t0002a0004c0035t0002others(3): Show | a0002c0037t0001g0039a0004c0007t0002g0346a0004c0007t0002g0347others(8): Show | 11 | 372 | 0.0296 | 613 | c.230 others(628): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | ||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(606): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0004 | a0002c0011a0004c0007 | a0002c0011t0002a0004c0007t0002 | a0002c0011t0002g0003a0002c0011t0002g0204a0002c0011t0002g0344others(4): Show | 9 | 372 | 0.0242 | 613 | c.230 others(628): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | ||||||
| VCX_chrX_7838171_7849143 | 7844254 | A | AGGGAGGA others(606): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0001 | 1 | 341 | 0.0029 | 613 | c.*23 others(622): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 112 | chrX | TogoVar | ||||||
| ZNF583_chr19_56399332_56432364 | 56409539 | T | TTGCCCAG others(606): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 332 | 0.0030 | 613 | c.9+2 others(626): Show |
ZNF583 | ENSG00000198440.9 | transcript | ENST00000333201.13 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(606): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0154 | 2 | 383 | 0.0052 | 613 | c.-42 others(624): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(606): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 383 | 0.0026 | 613 | c.-42 others(624): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(606): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02071.hp1 NA18969.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0166 | 6 | 383 | 0.0157 | 613 | c.-42 others(624): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(607): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0013 | a0013c0016 | a0013c0016t0014 | a0013c0016t0014g0100 | 1 | 262 | 0.0038 | 614 | c.106 others(633): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(607): Show |
3_prime_UTR_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0041 | 1 | 256 | 0.0039 | 614 | c.*39 others(623): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82972018 | T | TAGAAGGA others(607): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0061a0001c0001t0001g0179a0001c0001t0002g0064others(63): Show | 66 | 266 | 0.2481 | 614 | c.460 others(631): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0069 | 1 | 338 | 0.0030 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01361.hp2 |
a0011 | a0011c0020 | a0011c0020t0006a0011c0020t0012 | a0011c0020t0006g0061a0011c0020t0012g0335 | 2 | 338 | 0.0059 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 338 | 0.0030 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0289 | 1 | 338 | 0.0030 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0008 | a0002c0008t0019 | a0002c0008t0019g0221 | 1 | 338 | 0.0030 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 |
a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0217a0001c0031t0001g0218 | 2 | 338 | 0.0059 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(34): Show |
a0001a0002a0005others(12): Show | a0001c0001a0002c0002a0002c0043others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0208a0001c0001t0002g0084a0001c0001t0002g0090others(34): Show | 37 | 338 | 0.1095 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0029a0002c0007t0001g0030 | 2 | 338 | 0.0059 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185767 | G | GTAGGGGC others(607): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19007.hp2 NA19009.hp2 |
a0001a0039a0041 | a0001c0001a0039c0099a0041c0098 | a0001c0001t0001a0039c0099t0006a0041c0098t0004 | a0001c0001t0001g0079a0039c0099t0006g0054a0041c0098t0004g0033 | 3 | 338 | 0.0089 | 614 | c.300 others(631): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CALN1_chr7_71774491_72417338 | 72209170 | T | TTCCTTCC others(607): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 142 | 0.0070 | 614 | c.244 others(633): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
| CALN1_chr7_71774491_72417338 | 72209198 | C | CTCCTTCC others(607): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 142 | 0.0070 | 614 | c.244 others(633): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(607): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 284 | 0.0035 | 614 | c.712 others(631): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(607): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0064 | 1 | 284 | 0.0035 | 614 | c.712 others(631): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47557567 | A | AGTGCAGT others(607): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 340 | 0.0029 | 614 | c.-47 others(625): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 4436 | chr11 | TogoVar | ||||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(607): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0004 | 1 | 354 | 0.0028 | 614 | c.*69 others(625): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132895941 | C | CCACATGA others(607): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0123 | 1 | 246 | 0.0041 | 614 | c.321 others(633): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
| CNTN6_chr3_1088024_1409217 | 1245219 | T | TATTATAT others(607): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 232 | 0.0043 | 614 | c.358 others(633): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1245282 | C | CATATATA others(607): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 232 | 0.0043 | 614 | c.358 others(633): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(607): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0065 | 1 | 264 | 0.0038 | 614 | c.181 others(633): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3412037 | C | CGTGTATA others(607): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0012 | a0012c0104 | a0012c0104t0071 | a0012c0104t0071g0058 | 1 | 126 | 0.0079 | 614 | c.156 others(633): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238179 | A | AGGAGAGG others(607): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0098 | 1 | 216 | 0.0046 | 614 | c.923 others(633): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(607): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0150 | 1 | 216 | 0.0046 | 614 | c.923 others(633): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
| DCLK2_chr4_150073445_150262438 | 150251041 | C | CACACATC others(607): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0005 | a0005c0010 | a0005c0010t0021 | a0005c0010t0021g0042 | 1 | 116 | 0.0086 | 614 | c.207 others(633): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 418105 | C | CCACCTGC others(607): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 88 | 0.0114 | 614 | c.739 others(629): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 418107 | A | ACCTGCAC others(607): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 88 | 0.0114 | 614 | c.739 others(629): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
| DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(607): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 212 | 0.0047 | 614 | c.316 others(633): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(607): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0002 | 1 | 106 | 0.0094 | 614 | c.*28 others(625): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | ||||||
| GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(607): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 NA18906.hp1 |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0012a0004c0005t0002g0013 | 2 | 268 | 0.0075 | 614 | c.-28 others(625): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
| IDE_chr10_92446684_92579093 | 92524442 | A | ATATAATA others(607): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 314 | 0.0032 | 614 | c.661 others(631): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322378 | A | ATATGGAA others(607): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 323 | 0.0031 | 614 | c.-26 others(625): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2591 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(607): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 323 | 0.0031 | 614 | c.-16 others(625): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | ||||||
| IGF2R_chr6_159964082_160116504 | 159980219 | G | GAAAGAAA others(607): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0251 | 1 | 310 | 0.0032 | 614 | c.149 others(633): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |