| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TWIST2_chr2_238843085_238915534 | 238870989 | A | ACCCCACA others(239): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0003g0040 | 3 | 338 | 0.0089 | 246 | c.*35 others(265): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(239): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 320 | 0.0031 | 246 | c.-38 others(257): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | ||||||
| UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(239): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 320 | 0.0031 | 246 | c.-38 others(257): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | ||||||
| UBE4A_chr11_118354600_118404211 | 118355868 | T | TATATACA others(239): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0134a0001c0001t0001g0135others(2): Show | 5 | 320 | 0.0156 | 246 | c.-38 others(257): Show |
UBE4A | ENSG00000110344.10 | transcript | ENST00000252108.8 | protein_coding | 3731 | chr11 | TogoVar | ||||||
| UNG_chr12_109092597_109115992 | 109106892 | C | CATATATA others(239): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 452 | 0.0022 | 246 | c.802 others(263): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| URAD_chr13_27972717_27993693 | 27991055 | A | ATATGTAT others(239): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 428 | 0.0023 | 246 | c.-24 others(257): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2363 | chr13 | TogoVar | ||||||
| USP25_chr21_15724982_15885064 | 15836926 | A | ACAGAGTG others(239): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005 | a0001c0002t0004g0037a0001c0002t0004g0040a0001c0002t0005g0031others(3): Show | 6 | 200 | 0.0300 | 246 | c.219 others(265): Show |
USP25 | ENSG00000155313.16 | transcript | ENST00000400183.7 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| VCX2_chrX_8164944_8176267 | 8169105 | C | CCTCCCTC others(239): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0021 | 1 | 115 | 0.0087 | 246 | c.*92 others(255): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 838 | chrX | TogoVar | ||||||
| VCX3A_chrX_6528618_6540118 | 6533346 | C | CCCTCCCT others(239): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0047 | 1 | 74 | 0.0135 | 246 | c.*39 others(255): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 271 | chrX | TogoVar | ||||||
| VIPR2_chr7_159023175_159149867 | 159063799 | T | TGGGGTCC others(239): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0098 | 1 | 336 | 0.0030 | 246 | c.358 others(263): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| VIPR2_chr7_159023175_159149867 | 159063839 | G | GGGTCTGG others(239): Show |
intron_variant | MODIFIER | HG04115.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284a0001c0001t0001g0290 | 2 | 336 | 0.0060 | 246 | c.358 others(263): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
| XXYLT1_chr3_195063284_195276159 | 195110281 | G | GGGGTATA others(239): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 198 | 0.0051 | 246 | c.786 others(265): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
| ZNF430_chr19_21015657_21065050 | 21019661 | A | AATATATA others(239): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01358.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0009 | a0001c0001t0001a0001c0007t0001a0003c0009t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0107others(3): Show | 8 | 298 | 0.0269 | 246 | c.-11 others(257): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 995 | chr19 | TogoVar | ||||||
| ZNF430_chr19_21015657_21065050 | 21019661 | A | AATATATA others(239): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 298 | 0.0034 | 246 | c.-11 others(257): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 995 | chr19 | TogoVar | ||||||
| ZNF470_chr19_56562468_56587894 | 56572389 | T | TATATATA others(239): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0082 | 1 | 420 | 0.0024 | 246 | c.61- others(261): Show |
ZNF470 | ENSG00000197016.12 | transcript | ENST00000330619.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(239): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 460 | 0.0022 | 246 | c.-13 others(257): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
| ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(239): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 460 | 0.0022 | 246 | c.-13 others(257): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
| ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(239): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 NA18969.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 2 | 460 | 0.0044 | 246 | c.-13 others(257): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
| ZSCAN22_chr19_58321994_58347332 | 58326653 | C | CCCATCCC others(239): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 400 | 0.0025 | 246 | c.-51 others(255): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 340 | chr19 | TogoVar | ||||||
| ACSM2B_chr16_20531226_20581367 | 20566676 | C | CTATATAT others(240): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0006 | a0006c0020 | a0006c0020t0003 | a0006c0020t0003g0105 | 1 | 388 | 0.0026 | 247 | c.-8- others(262): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
| ADAP1_chr7_892900_959680 | 906607 | G | GGAGAAAG others(240): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 14 | 0.0714 | 247 | c.389 others(264): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| AGPAT2_chr9_136668143_136692457 | 136671040 | G | GGGCAGGC others(240): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0192 | 1 | 374 | 0.0027 | 247 | c.*24 others(258): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 2102 | chr9 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(240): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0195 | 1 | 356 | 0.0028 | 247 | c.667 others(262): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATA others(240): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 288 | 0.0035 | 247 | c.70- others(264): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241218060 | A | AGGGGCGG others(240): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 396 | 0.0025 | 247 | c.217 others(264): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994797 | G | GTCCCGGG others(240): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 268 | 0.0037 | 247 | c.195 others(264): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994797 | G | GTCCCGGG others(240): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 268 | 0.0037 | 247 | c.195 others(264): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994797 | G | GTCCCGGG others(240): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 268 | 0.0037 | 247 | c.195 others(264): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP2A2_chr11_920870_1017240 | 994952 | C | CCGCTGTC others(240): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0020 | 1 | 268 | 0.0037 | 247 | c.195 others(264): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 994952 | C | CGCTGTCC others(240): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 268 | 0.0037 | 247 | c.195 others(264): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| API5_chr11_43306996_43349529 | 43335390 | C | CAAAACTT others(240): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 384 | 0.0026 | 247 | c.135 others(262): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG03139.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0182a0001c0001t0001g0189 | 3 | 342 | 0.0088 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0008 | a0001c0008t0019 | a0001c0008t0019g0205 | 1 | 342 | 0.0029 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG02970.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0185 | 4 | 342 | 0.0117 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 342 | 0.0029 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01168.hp2 others(21): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0021a0001c0001t0001g0037a0001c0001t0001g0050others(19): Show | 24 | 342 | 0.0702 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG02717.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0167a0001c0001t0001g0174others(1): Show | 4 | 342 | 0.0117 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 342 | 0.0029 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(75): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(54): Show | 78 | 342 | 0.2281 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 342 | 0.0029 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01070.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0091a0001c0001t0001g0093others(4): Show | 7 | 342 | 0.0205 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(240): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 342 | 0.0029 | 247 | c.*62 others(258): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARHGAP19_chr10_97217179_97297637 | 97251593 | A | AGGGGGAG others(240): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 242 | 0.0041 | 247 | c.927 others(264): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687120 | C | CCCCGTGA others(240): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 246 | 0.0041 | 247 | c.-15 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1275 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687393 | C | CGAGCACT others(240): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 246 | 0.0041 | 247 | c.-17 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1548 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGTGAGCA others(240): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 246 | 0.0041 | 247 | c.-18 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCGTG others(240): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 246 | 0.0041 | 247 | c.-20 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687829 | C | CCCCGTGA others(240): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0017 | 1 | 246 | 0.0041 | 247 | c.-22 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1984 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687829 | C | CCCCGTGA others(240): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0075 | 1 | 246 | 0.0041 | 247 | c.-22 others(258): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1984 | chr8 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218466 | T | TATATATA others(240): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 |
a0001a0006 | a0001c0005a0006c0009 | a0001c0005t0001a0006c0009t0001 | a0001c0005t0001g0305a0006c0009t0001g0186 | 2 | 410 | 0.0049 | 247 | c.671 others(264): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar |