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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1710): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 207 | 0.0048 | 1717 | c.715 others(1734): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1710): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0001t0001g0281 |
3 | 94 | 0.0319 | 1717 | c.124 others(1736): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1710): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(3): Show |
6 | 97 | 0.0619 | 1717 | c.124 others(1736): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934946 | C | CGTTACAG others(1710): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0306 | 1 | 431 | 0.0023 | 1717 | c.843 others(1732): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1711): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0171 | 1 | 42 | 0.0238 | 1718 | c.179 others(1733): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1711): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0002 | 1 | 24 | 0.0417 | 1718 | c.366 others(1737): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1711): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 47 | 0.0213 | 1718 | c.338 others(1737): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCACACCA others(1711): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 12 | 0.0833 | 1718 | c.*28 others(1729): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1711): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0059 | a0001c0002t0059g0035 | 1 | 5 | 0.2000 | 1718 | c.297 others(1735): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
NSD3_chr8_38264704_38387271 | 38335544 | T | TAAGAAAG others(1711): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0113 | 1 | 224 | 0.0045 | 1718 | c.910 others(1735): Show |
NSD3 | ENSG00000147548.17 | transcript | ENST00000317025.13 | protein_coding | 4/23 | chr8 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1711): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0073 | a0004c0004t0073g0048 | 1 | 336 | 0.0030 | 1718 | c.-38 others(1729): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(1711): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0164 | 1 | 82 | 0.0122 | 1718 | c.147 others(1735): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(1711): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0028 | a0028c0052 | a0028c0052t0001 | a0028c0052t0001g0154 | 1 | 82 | 0.0122 | 1718 | c.147 others(1735): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1711): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0034a0001c0001t0040others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0096 others(44): Show |
51 | 142 | 0.3592 | 1718 | c.124 others(1737): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1711): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0029 | 1 | 92 | 0.0109 | 1718 | c.124 others(1737): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1711): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02922.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0011a0004c0005t0018a0004c0005t0046 | a0004c0005t0011g0060 a0004c0005t0018g0019 a0004c0005t0018g0020 others(1): Show |
4 | 95 | 0.0421 | 1718 | c.124 others(1737): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1711): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0331 | 1 | 126 | 0.0079 | 1718 | c.45- others(1733): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971177 | A | AAGCTGAG others(1711): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0243 | 1 | 105 | 0.0095 | 1718 | c.157 others(1737): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107369777 | C | CAAGAAAT others(1712): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0129 | 1 | 186 | 0.0054 | 1719 | c.113 others(1740): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1712): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 42 | 0.0238 | 1719 | c.179 others(1734): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1712): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0038 | a0038c0083 | a0038c0083t0003 | a0038c0083t0003g0129 | 1 | 42 | 0.0238 | 1719 | c.179 others(1734): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1712): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0027 | a0027c0079 | a0027c0079t0004 | a0027c0079t0004g0128 | 1 | 42 | 0.0238 | 1719 | c.179 others(1734): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1712): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0038 | 1 | 2 | 0.5000 | 1719 | c.-52 others(1740): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1712): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA18961.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0139 |
4 | 60 | 0.0667 | 1719 | c.*31 others(1730): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1712): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 a0001c0001t0001g0137 |
2 | 58 | 0.0345 | 1719 | c.*31 others(1730): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619056 | C | CTCCCTGC others(1712): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 248 | 0.0040 | 1719 | c.-10 others(1738): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1712): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0032 | 1 | 3 | 0.3333 | 1719 | c.219 others(1738): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1712): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0086 | a0001c0086t0067 | a0001c0086t0067g0001 | 1 | 24 | 0.0417 | 1719 | c.366 others(1738): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1712): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03098.hp2 |
a0001a0007 | a0001c0050a0007c0076 | a0001c0050t0086a0007c0076t0002 | a0001c0050t0086g0025 a0007c0076t0002g0062 |
2 | 25 | 0.0800 | 1719 | c.366 others(1738): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1712): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02280.hp2 HG02572.hp2 others(5): Show |
a0001a0002a0017others(3): Show | a0001c0051a0002c0001a0002c0013others(4): Show | a0001c0051t0089a0002c0001t0009a0002c0013t0004others(5): Show | a0001c0051t0089g0016 a0002c0001t0009g0104 a0002c0013t0004g0056 others(5): Show |
8 | 31 | 0.2581 | 1719 | c.366 others(1738): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322754 | A | ACGGAATA others(1712): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0222 | 1 | 251 | 0.0040 | 1719 | c.-23 others(1730): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2215 | chr21 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1712): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 210 | 0.0048 | 1719 | c.292 others(1738): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1712): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0147 | 1 | 17 | 0.0588 | 1719 | c.*11 others(1740): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1712): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 5 | 0.2000 | 1719 | c.189 others(1738): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1712): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 5 | 0.2000 | 1719 | c.189 others(1738): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1712): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 224 | 0.0045 | 1719 | c.324 others(1736): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1712): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 224 | 0.0045 | 1719 | c.324 others(1736): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1712): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02723.hp1 HG02818.hp2 others(1): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0006 | a0001c0001t0004a0001c0001t0047a0004c0004t0027others(1): Show | a0001c0001t0004g0255 a0001c0001t0047g0218 a0004c0004t0027g0029 others(1): Show |
4 | 339 | 0.0118 | 1719 | c.-38 others(1730): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1712): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG02083.hp2 NA19068.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0002c0002t0021 | a0001c0001t0004g0251 a0001c0001t0005g0014 a0002c0002t0021g0040 |
3 | 338 | 0.0089 | 1719 | c.-38 others(1730): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1712): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 336 | 0.0030 | 1719 | c.-38 others(1730): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1712): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0319 a0001c0001t0009g0085 a0001c0001t0009g0216 others(4): Show |
7 | 98 | 0.0714 | 1719 | c.124 others(1738): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1712): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp2 HG01358.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 others(5): Show |
8 | 99 | 0.0808 | 1719 | c.124 others(1738): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1712): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0005 | a0004c0005t0011 | a0004c0005t0011g0061 | 1 | 92 | 0.0109 | 1719 | c.124 others(1738): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1712): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0057 | 1 | 18 | 0.0556 | 1719 | c.-28 others(1738): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1712): Show |
intron_variant | MODIFIER | NA19076.hp1 NA19076.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0021 | a0001c0001t0001g0338 a0001c0003t0021g0247 |
2 | 260 | 0.0077 | 1719 | c.101 others(1738): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1712): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0101 | 1 | 46 | 0.0217 | 1719 | c.176 others(1736): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1712): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 50 | 0.0200 | 1719 | c.*24 others(1730): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1712): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 35 | 0.0286 | 1719 | c.-28 others(1738): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(1712): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 35 | 0.0286 | 1719 | c.-28 others(1738): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049567 | C | CCCCCCCA others(1713): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 23 | 0.0435 | 1720 | c.255 others(1737): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |