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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1059): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 | 1 | 416 | 0.0024 | 1066 | c.522 others(1081): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1059): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0018 | 2 | 416 | 0.0048 | 1066 | c.522 others(1081): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(1059): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 416 | 0.0024 | 1066 | c.522 others(1081): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(1059): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0341 | 1 | 416 | 0.0024 | 1066 | c.522 others(1081): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FHOD3_chr18_36292713_36785220 | 36463434 | A | AAAAAATA others(1059): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0031 | a0002c0031t0002 | a0002c0031t0002g0102 | 1 | 168 | 0.0060 | 1066 | c.338 others(1085): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1059): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0034 | 1 | 276 | 0.0036 | 1066 | c.*65 others(1077): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0119 | 1 | 462 | 0.0022 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 462 | 0.0022 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0074 | 1 | 462 | 0.0022 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0121 | 1 | 462 | 0.0022 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(136): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0040a0001c0001t0058others(14): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0037others(50): Show | 139 | 462 | 0.3009 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1059): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02895.hp1 others(7): Show |
a0001a0009 | a0001c0001a0001c0005a0009c0013 | a0001c0001t0012a0001c0001t0014a0001c0001t0057others(2): Show | a0001c0001t0012g0044a0001c0001t0012g0118a0001c0001t0012g0191others(4): Show | 10 | 462 | 0.0217 | 1066 | c.*57 others(1077): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(1059): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01993.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0099a0002c0004t0001g0232 | 2 | 236 | 0.0085 | 1066 | c.193 others(1085): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1059): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0049 | 1 | 108 | 0.0093 | 1066 | c.648 others(1085): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1059): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0102 | 1 | 108 | 0.0093 | 1066 | c.648 others(1085): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAD1L1_chr7_1810795_2237945 | 1996281 | C | CTACACAC others(1059): Show |
intron_variant | MODIFIER | HG02735.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0102 | 2 | 264 | 0.0076 | 1066 | c.141 others(1085): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1059): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0024 | 1 | 292 | 0.0034 | 1066 | c.218 others(1081): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1059): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 |
a0057a0073 | a0057c0043a0073c0121 | a0057c0043t0002a0073c0121t0001 | a0057c0043t0002g0044a0073c0121t0001g0138 | 2 | 228 | 0.0088 | 1066 | c.252 others(1085): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37330912 | A | ATACAATA others(1059): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0090 | 1 | 296 | 0.0034 | 1066 | c.240 others(1083): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(1059): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0079 | 1 | 296 | 0.0034 | 1066 | c.240 others(1083): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1059): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0189 | 1 | 340 | 0.0029 | 1066 | c.227 others(1083): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | ATATATAT others(1059): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0254 | 1 | 304 | 0.0033 | 1066 | c.347 others(1081): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1059): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0147 | 1 | 156 | 0.0064 | 1066 | c.176 others(1083): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(1059): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0004 | a0001c0001t0001g0148a0001c0001t0006g0083a0001c0002t0004g0016 | 3 | 156 | 0.0192 | 1066 | c.176 others(1083): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(1059): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0201 | 1 | 373 | 0.0027 | 1066 | c.115 others(1083): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747853 | G | GCTGGGGT others(1059): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 314 | 0.0032 | 1066 | c.189 others(1081): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMPRSS2_chr21_41459305_41513158 | 41475639 | A | AGTGAGGG others(1059): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0271 | 1 | 382 | 0.0026 | 1066 | c.727 others(1081): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142242243 | T | TGCCGTAT others(1059): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0150 | 1 | 238 | 0.0042 | 1066 | c.144 others(1087): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871163 | C | CCACACAC others(1059): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 338 | 0.0030 | 1066 | c.*35 others(1085): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917125 | C | CGGGTGGG others(1059): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0088 | 1 | 344 | 0.0029 | 1066 | c.218 others(1081): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169723 | C | CCTCCCTC others(1059): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0017 | a0017c0016 | a0017c0016t0008 | a0017c0016t0008g0020 | 1 | 115 | 0.0087 | 1066 | c.*30 others(1075): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 220 | chrX | TogoVar | ||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1059): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 274 | 0.0037 | 1066 | c.*51 others(1077): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1060): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 238 | 0.0042 | 1067 | c.787 others(1082): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1060): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0002 | 1 | 210 | 0.0048 | 1067 | c.273 others(1084): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CCGCCCGG others(1060): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093 | 1 | 226 | 0.0044 | 1067 | c.217 others(1086): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539501 | C | CTTCATAA others(1060): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0030 | 1 | 104 | 0.0096 | 1067 | c.139 others(1088): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185940 | G | GGGGCGGG others(1060): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0009 | a0009c0076 | a0009c0076t0006 | a0009c0076t0006g0142 | 1 | 338 | 0.0030 | 1067 | c.300 others(1084): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1060): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0050 | a0050c0070 | a0050c0070t0001 | a0050c0070t0001g0093 | 1 | 278 | 0.0036 | 1067 | c.328 others(1084): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1060): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0007 | a0007c0049 | a0007c0049t0001 | a0007c0049t0001g0229 | 1 | 278 | 0.0036 | 1067 | c.328 others(1084): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1060): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0299 | 1 | 344 | 0.0029 | 1067 | c.85- others(1084): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1060): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 276 | 0.0036 | 1067 | c.*52 others(1078): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1060): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0005 | a0005c0008 | a0005c0008t0029 | a0005c0008t0029g0169 | 1 | 216 | 0.0046 | 1067 | c.923 others(1086): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478086 | G | GGGGAAAA others(1060): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0077 | 1 | 88 | 0.0114 | 1067 | c.158 others(1084): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(1060): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0141 | a0141c0032 | a0141c0032t0001 | a0141c0032t0001g0172 | 1 | 252 | 0.0040 | 1067 | c.118 others(1086): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438444 | A | AGGAGGAG others(1060): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0109 | a0001c0109t0001 | a0001c0109t0001g0217 | 1 | 252 | 0.0040 | 1067 | c.118 others(1086): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659568 | A | AGGGGGGT others(1060): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 378 | 0.0027 | 1067 | c.*50 others(1078): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4631 | chr8 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602382 | C | CCCTCCTC others(1060): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 408 | 0.0025 | 1067 | c.633 others(1084): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IFI44L_chr1_78615448_78651145 | 78634142 | T | TAGAAATC others(1060): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0003 | a0003c0003 | a0003c0003t0035 | a0003c0003t0035g0114 | 1 | 430 | 0.0023 | 1067 | c.724 others(1084): Show |
IFI44L | ENSG00000137959.17 | transcript | ENST00000370751.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1060): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0210 | a0001c0001t0210g0186 | 1 | 276 | 0.0036 | 1067 | c.*65 others(1078): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1060): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0065 | 1 | 108 | 0.0093 | 1067 | c.648 others(1086): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |