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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79146424 | T | TGGCGGTG others(905): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(1): Show |
a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0165a0005c0009t0005g0167a0005c0009t0005g0168others(1): Show | 4 | 298 | 0.0134 | 912 | c.726 others(929): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79146434 | G | GAGAGTGA others(905): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0166 | 1 | 298 | 0.0034 | 912 | c.726 others(929): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 384908 | T | TGGGCAAG others(905): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 184 | 0.0109 | 912 | c.*31 others(923): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 2792 | chr11 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181712 | C | CACACATA others(905): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0334 | 1 | 460 | 0.0022 | 912 | c.193 others(929): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(905): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0006 | a0003c0006t0015 | a0003c0006t0015g0197 | 1 | 334 | 0.0030 | 912 | c.-25 others(923): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065162 | A | ATAGTATT others(905): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0021 | a0001c0021t0003 | a0001c0021t0003g0175 | 1 | 334 | 0.0030 | 912 | c.-26 others(923): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2297 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065178 | A | ATAGTATT others(905): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0099 | 1 | 334 | 0.0030 | 912 | c.-26 others(923): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2313 | chr11 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(905): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 370 | 0.0027 | 912 | c.891 others(929): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56097772 | T | TATATAAA others(905): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0087 | 1 | 264 | 0.0038 | 912 | c.181 others(931): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(905): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 264 | 0.0038 | 912 | c.181 others(931): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(905): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0075 | a0001c0075t0001 | a0001c0075t0001g0106 | 1 | 372 | 0.0027 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(905): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0349 | 1 | 372 | 0.0027 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(905): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 372 | 0.0027 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(905): Show |
intron_variant | MODIFIER | HG04204.hp2 HG04228.hp2 |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0104a0001c0004t0005g0163 | 2 | 372 | 0.0054 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(905): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0100 | a0001c0100t0001 | a0001c0100t0001g0164 | 1 | 372 | 0.0027 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(905): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01934.hp2 |
a0001a0005 | a0001c0014a0005c0020a0005c0043 | a0001c0014t0006a0005c0020t0006a0005c0043t0001 | a0001c0014t0006g0095a0005c0020t0006g0097a0005c0043t0001g0137 | 3 | 372 | 0.0081 | 912 | c.180 others(931): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(905): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 316 | 0.0032 | 912 | c.44- others(925): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647413 | A | AATCCTCC others(905): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0253 | 1 | 276 | 0.0036 | 912 | c.*52 others(923): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2069 | chr15 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325710 | G | GTTTTGTT others(905): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 100 | 0.0100 | 912 | c.292 others(931): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(905): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0116 | 1 | 380 | 0.0026 | 912 | c.-27 others(923): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(905): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0239 | 1 | 380 | 0.0026 | 912 | c.-27 others(923): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(905): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 380 | 0.0026 | 912 | c.-27 others(923): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(905): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 46 | 0.0217 | 912 | c.-17 others(931): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252971 | T | TCACCACC others(905): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 366 | 0.0027 | 912 | c.666 others(929): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46635699 | C | CCCCCGCC others(905): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0063 | 1 | 328 | 0.0031 | 912 | c.163 others(929): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635699 | C | CCCCCGCC others(905): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0020 | 1 | 328 | 0.0031 | 912 | c.163 others(929): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | chr22 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(905): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 314 | 0.0032 | 912 | c.-25 others(929): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(905): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 314 | 0.0032 | 912 | c.-25 others(929): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(905): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0028 | 1 | 375 | 0.0027 | 912 | c.-19 others(923): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(905): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0013 | 1 | 114 | 0.0088 | 912 | c.56- others(929): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(905): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0081a0001c0002t0003g0086 | 2 | 114 | 0.0175 | 912 | c.56- others(929): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(905): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0119 | 1 | 186 | 0.0054 | 912 | c.956 others(929): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(905): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0205 | 1 | 284 | 0.0035 | 912 | c.126 others(929): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(905): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 424 | 0.0024 | 912 | c.-28 others(923): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
LIG3_chr17_34975512_35014743 | 34977736 | A | AGAAACCC others(905): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0048 | 1 | 424 | 0.0024 | 912 | c.-28 others(923): Show |
LIG3 | ENSG00000005156.12 | transcript | ENST00000378526.9 | protein_coding | 2775 | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(905): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 272 | 0.0037 | 912 | c.250 others(927): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81971 | G | GCTGACCC others(905): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 2 | 442 | 0.0045 | 912 | c.301 others(929): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(905): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01981.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0070a0001c0001t0001g0108 | 3 | 140 | 0.0214 | 912 | c.133 others(931): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(905): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 140 | 0.0071 | 912 | c.133 others(931): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(905): Show |
intron_variant | MODIFIER | NA19009.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0088 | 2 | 140 | 0.0143 | 912 | c.133 others(931): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(905): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 330 | 0.0030 | 912 | c.-5+ others(927): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195783703 | G | GGAAGAGG others(905): Show |
conservative_inframe_insertion | MODERATE | HG03098.hp1 | a0049 | a0049c0145 | a0049c0145t0008 | a0049c0145t0008g0055 | 1 | 249 | 0.0040 | 912 | c.787 others(921): Show |
p.Leu others(927): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7988/16756 | 7876/16239 | 2626/5412 | chr3 | TogoVar | ||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(905): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0078 | 1 | 322 | 0.0031 | 912 | c.278 others(931): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(905): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0014 | a0001c0014t0004a0001c0014t0007a0001c0014t0018others(1): Show | a0001c0014t0004g0308a0001c0014t0007g0313a0001c0014t0018g0309others(2): Show | 5 | 322 | 0.0155 | 912 | c.278 others(931): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79505171 | C | CGTGGGAG others(905): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18986.hp1 NA18995.hp2 |
a0002a0012 | a0002c0002a0012c0041 | a0002c0002t0002a0002c0002t0060a0012c0041t0006 | a0002c0002t0002g0061a0002c0002t0060g0070a0012c0041t0006g0102 | 3 | 322 | 0.0093 | 912 | c.278 others(933): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 81971 | G | GCTGACCC others(905): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128a0001c0001t0002g0129 | 2 | 350 | 0.0057 | 912 | c.*47 others(923): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3414 | chr16 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(905): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 912 | c.*31 others(923): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(905): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01168.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 4 | 456 | 0.0088 | 912 | c.*31 others(923): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83950683 | A | ACACACGT others(905): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 NA18970.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0089a0001c0001t0001g0098 | 3 | 350 | 0.0086 | 912 | c.-27 others(923): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2556 | chr16 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(905): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 350 | 0.0029 | 912 | c.734 others(929): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar |