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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31431958 | T | TAGGGTGC others(2045): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 329 | 0.0030 | 2052 | c.101 others(2071): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2045): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 208 | 0.0048 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2045): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 208 | 0.0048 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTAGGTG others(2045): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0291 | 1 | 110 | 0.0091 | 2052 | c.115 others(2069): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2045): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0009 | a0009c0009 | a0009c0009t0003 | a0009c0009t0003g0210 | 1 | 356 | 0.0028 | 2052 | c.341 others(2069): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19084.hp1 |
a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0083 a0005c0006t0015g0084 |
2 | 45 | 0.0444 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0009 | a0009c0040 | a0009c0040t0010 | a0009c0040t0010g0085 | 1 | 44 | 0.0227 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2046): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0077 | 1 | 44 | 0.0227 | 2053 | c.108 others(2070): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG03669.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0295 |
2 | 196 | 0.0102 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0284 | 1 | 195 | 0.0051 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 195 | 0.0051 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 195 | 0.0051 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 2 | 196 | 0.0102 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0242 | 1 | 195 | 0.0051 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00609.hp1 others(50): Show |
a0001a0003a0006 | a0001c0001a0003c0007a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0200 a0001c0001t0002g0012 a0001c0001t0002g0013 others(48): Show |
53 | 247 | 0.2146 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2046): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0188 | 1 | 195 | 0.0051 | 2053 | c.648 others(2070): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2046): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 4 | 0.2500 | 2053 | c.972 others(2066): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414491 | T | TCAGGGCG others(2046): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0035 | 1 | 80 | 0.0125 | 2053 | c.115 others(2070): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2047): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0190 | 1 | 44 | 0.0227 | 2054 | c.108 others(2071): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2047): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 50 | 0.0200 | 2054 | c.147 others(2071): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0283 | 1 | 195 | 0.0051 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 195 | 0.0051 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 195 | 0.0051 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 a0001c0001t0002g0279 |
2 | 196 | 0.0102 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0255 a0001c0001t0011g0262 |
2 | 196 | 0.0102 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2047): Show |
intron_variant | MODIFIER | NA19060.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0248 a0001c0001t0006g0267 |
2 | 196 | 0.0102 | 2054 | c.648 others(2071): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2047): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0038 |
2 | 17 | 0.1176 | 2054 | c.164 others(2073): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2047): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0023 | a0023c0046 | a0023c0046t0001 | a0023c0046t0001g0055 | 1 | 34 | 0.0294 | 2054 | c.299 others(2069): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PLCXD1_chrX_276381_308356 | 297952 | T | TCTGTCCC others(2047): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0026 | a0002c0005t0026g0031 | 1 | 159 | 0.0063 | 2054 | c.734 others(2071): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 43 | 0.0233 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 43 | 0.0233 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2047): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0104 | 1 | 43 | 0.0233 | 2054 | c.-12 others(2075): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2048): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0070 | 1 | 44 | 0.0227 | 2055 | c.108 others(2072): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763773 | T | TTGTCCAC others(2048): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0005 | a0005c0006 | a0005c0006t0015 | a0005c0006t0015g0090 | 1 | 215 | 0.0047 | 2055 | c.108 others(2072): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 195 | 0.0051 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 195 | 0.0051 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 195 | 0.0051 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0254 | 1 | 195 | 0.0051 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2048): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 195 | 0.0051 | 2055 | c.648 others(2072): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2048): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0036 | a0036c0041 | a0036c0041t0002 | a0036c0041t0002g0054 | 1 | 13 | 0.0769 | 2055 | c.354 others(2074): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2048): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0032 | a0032c0071 | a0032c0071t0001 | a0032c0071t0001g0129 | 1 | 97 | 0.0103 | 2055 | c.101 others(2074): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2048): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 95 | 0.0105 | 2055 | c.*11 others(2076): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(2048): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0077 | 1 | 149 | 0.0067 | 2055 | c.773 others(2070): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCCTACC others(2048): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 62 | 0.0161 | 2055 | c.773 others(2070): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2048): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 82 | 0.0122 | 2055 | c.147 others(2072): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2049): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01258.hp1 HG01496.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0039a0002c0002t0046 | a0002c0002t0008g0065 a0002c0002t0008g0068 a0002c0002t0008g0069 others(3): Show |
6 | 49 | 0.1224 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2049): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02559.hp1 HG02896.hp1 others(2): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0003a0002c0002t0040a0002c0013t0009 | a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0040g0096 others(1): Show |
5 | 48 | 0.1042 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763760 | C | CCTCCTCC others(2049): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 201 | 0.0050 | 2056 | c.108 others(2073): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2049): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 50 | 0.0200 | 2056 | c.147 others(2073): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2049): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 50 | 0.0200 | 2056 | c.147 others(2073): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |