| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01884.hp1 others(9): Show |
a0003a0004a0010 | a0003c0018a0003c0031a0004c0009others(3): Show | a0003c0018t0002a0003c0031t0001a0004c0009t0002others(4): Show | a0003c0018t0002g0274 a0003c0018t0002g0325 a0003c0031t0001g0275 others(8): Show |
12 | 278 | 0.0432 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0214 | 1 | 267 | 0.0037 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19030.hp1 |
a0003 | a0003c0025a0003c0026 | a0003c0025t0002a0003c0026t0001 | a0003c0025t0002g0098 a0003c0026t0001g0201 |
2 | 268 | 0.0075 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 267 | 0.0037 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| TXNRD2_chr22_19870522_19946818 | 19919235 | A | ACCCAGGC others(608): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19058.hp2 NA19060.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0295 a0003c0003t0001g0297 a0003c0003t0001g0299 others(1): Show |
4 | 270 | 0.0148 | 615 | c.230 others(630): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 3/17 | chr22 | TogoVar | |||||||
| UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(608): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0037 | 1 | 2 | 0.5000 | 615 | c.104 others(634): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(608): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 12 | 0.0833 | 615 | c.55+ others(630): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(608): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0002a0004a0021others(4): Show | a0002c0003a0002c0008a0004c0146others(5): Show | a0002c0003t0002a0002c0008t0006a0004c0146t0002others(5): Show | a0002c0003t0002g0238 a0002c0008t0006g0007 a0004c0146t0002g0088 others(5): Show |
9 | 179 | 0.0503 | 615 | c.-19 others(636): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF469_chr16_88377959_88445753 | 88401469 | A | AGATGGAT others(608): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp2 |
a0007a0102 | a0007c0042a0102c0065 | a0007c0042t0007a0102c0065t0044 | a0007c0042t0007g0058 a0102c0065t0044g0028 |
2 | 172 | 0.0116 | 615 | c.-19 others(636): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(608): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 37 | 0.0270 | 615 | c.181 others(636): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(608): Show |
upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 183 | 0.0055 | 615 | c.-42 others(626): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(608): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 183 | 0.0055 | 615 | c.-42 others(626): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
| ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(609): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0047 | 1 | 209 | 0.0048 | 616 | c.49- others(631): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 344944 | G | GGTGTGTG others(609): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0006 | a0006c0006 | a0006c0006t0021 | a0006c0006t0021g0245 a0006c0006t0021g0246 |
2 | 263 | 0.0076 | 616 | c.62+ others(629): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| ALLC_chr2_3653200_3707671 | 3690296 | C | CCCTCCCC others(609): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0047 | 1 | 226 | 0.0044 | 616 | c.512 others(633): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1919969 | T | TTCTGTGG others(609): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0025 | a0002c0025t0015 | a0002c0025t0015g0156 | 1 | 360 | 0.0028 | 616 | c.214 others(635): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF3_chr3_56722420_56806949 | 56731592 | C | CCGGGTTT others(609): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0011 | a0004c0011t0008 | a0004c0011t0008g0073 | 1 | 250 | 0.0040 | 616 | c.122 others(633): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
| ASAP2_chr2_9201812_9410678 | 9406062 | T | TCTTCCTC others(609): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0095 | 1 | 203 | 0.0049 | 616 | c.*27 others(627): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 385 | chr2 | TogoVar | |||||||
| ASAP2_chr2_9201812_9410678 | 9406452 | A | AGGCTTCC others(609): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0149 | 1 | 110 | 0.0091 | 616 | c.*31 others(627): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 775 | chr2 | TogoVar | |||||||
| ASAP2_chr2_9201812_9410678 | 9406510 | T | TCTTCCTC others(609): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 186 | 0.0054 | 616 | c.*31 others(627): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 833 | chr2 | TogoVar | |||||||
| ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(609): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 164 | 0.0061 | 616 | c.331 others(635): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
| AZU1_chr19_822837_837018 | 835512 | A | AGGCCCCG others(609): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0004 a0001c0004t0001g0006 |
2 | 376 | 0.0053 | 616 | c.*36 others(627): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3495 | chr19 | TogoVar | |||||||
| B3GNTL1_chr17_82937149_83056770 | 83035827 | G | GGCTGGTG others(609): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03579.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0016a0001c0014t0018 | a0001c0002t0016g0135 a0001c0002t0016g0136 a0001c0014t0018g0050 |
3 | 154 | 0.0195 | 616 | c.233 others(631): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
| C10orf90_chr10_126419997_126675693 | 126672434 | G | GCAGGACT others(609): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA19054.hp2 NA19060.hp1 |
a0001a0005 | a0001c0008a0001c0009a0005c0006 | a0001c0008t0004a0001c0009t0001a0005c0006t0001 | a0001c0008t0004g0082 a0001c0009t0001g0078 a0005c0006t0001g0085 |
3 | 101 | 0.0297 | 616 | c.-19 others(627): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1742 | chr10 | TogoVar | |||||||
| C10orf90_chr10_126419997_126675693 | 126672875 | C | CCCGAGAC others(609): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 a0001c0001t0007g0029 |
2 | 184 | 0.0109 | 616 | c.-23 others(627): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2183 | chr10 | TogoVar | |||||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(609): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 86 | 0.0116 | 616 | c.*21 others(631): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| C20orf96_chr20_265863_295750 | 279033 | C | CGGGACGG others(609): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 341 | 0.0029 | 616 | c.465 others(631): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
| C2orf80_chr2_208160347_208195030 | 208176938 | T | TAGGTGTA others(609): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 233 | 0.0043 | 616 | c.366 others(633): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(609): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0159 | 1 | 194 | 0.0052 | 616 | c.300 others(633): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85818864 | C | CAAGGTTC others(609): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0030 | 1 | 134 | 0.0075 | 616 | c.238 others(635): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(609): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 4 | 0.2500 | 616 | c.712 others(633): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(609): Show |
intron_variant | MODIFIER | NA19090.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0063 a0001c0001t0022g0175 |
2 | 5 | 0.4000 | 616 | c.712 others(633): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
| CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(609): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0225 | 1 | 229 | 0.0044 | 616 | c.411 others(633): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(609): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 | 1 | 229 | 0.0044 | 616 | c.411 others(633): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(609): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0082 | 1 | 229 | 0.0044 | 616 | c.411 others(633): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(609): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0270 | 1 | 2 | 0.5000 | 616 | c.162 others(637): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CNNM2_chr10_102913294_103095222 | 102995203 | C | CTCCCCCT others(609): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 268 | 0.0037 | 616 | c.162 others(637): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133778 | T | TCTCCACC others(609): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 202 | 0.0050 | 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 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0003c0004t0005 | a0002c0003t0002g0140 a0003c0004t0005g0132 |
2 | 214 | 0.0093 | 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 | a0002c0005t0002g0006 a0004c0012t0004g0096 |
2 | 86 | 0.0233 | 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 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0110 a0001c0007t0001g0137 |
2 | 86 | 0.0233 | 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 | a0001c0001t0001g0121 | 1 | 85 | 0.0118 | 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 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 260 | 0.0038 | 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 | 320 | 0.0031 | 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 | a0001c0003t0001g0057 | 1 | 201 | 0.0050 | 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 | a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0069 others(6): Show |
9 | 224 | 0.0402 | 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 | 409 | 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 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0001 |
3 | 243 | 0.0123 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(98): Show |
152 | 326 | 0.4663 | 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 | a0001c0001t0001g0035 a0001c0002t0001g0174 |
3 | 177 | 0.0169 | 616 | c.-18 others(627): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1806 | chr20 | TogoVar |