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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(1002): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 426 | 0.0024 | 1009 | c.273 others(1024): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370388 | C | CCCCTACC others(1002): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 376 | 0.0027 | 1009 | c.*15 others(1020): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 399 | chr16 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1002): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 376 | 0.0027 | 1009 | c.*15 others(1020): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1002): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0240 | 1 | 308 | 0.0033 | 1009 | c.371 others(1026): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1002): Show |
intron_variant | MODIFIER | HG00639.hp1 HG03239.hp1 HG03654.hp1 others(1): Show |
a0003a0045a0047 | a0003c0004a0003c0075a0045c0049others(1): Show | a0003c0004t0001a0003c0075t0001a0045c0049t0001others(1): Show | a0003c0004t0001g0247a0003c0075t0001g0235a0045c0049t0001g0073others(1): Show | 4 | 308 | 0.0130 | 1009 | c.371 others(1026): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGAGGG others(1002): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0239 | 1 | 308 | 0.0033 | 1009 | c.371 others(1026): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(1002): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 160 | 0.0063 | 1009 | c.389 others(1030): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(1002): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0170 | 1 | 214 | 0.0047 | 1009 | c.206 others(1028): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290702 | T | TGACAGGG others(1002): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 392 | 0.0026 | 1009 | c.157 others(1028): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(1002): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 |
a0002 | a0002c0005a0002c0010 | a0002c0005t0033a0002c0010t0002 | a0002c0005t0033g0057a0002c0010t0002g0055 | 2 | 128 | 0.0156 | 1009 | c.143 others(1030): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1002): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250 | 1 | 388 | 0.0026 | 1009 | c.-23 others(1026): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1002): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0069a0001c0001t0009g0070 | 2 | 167 | 0.0120 | 1009 | c.*53 others(1020): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ZBTB8OS_chr1_32615820_32655550 | 32642777 | T | TTTTTTTT others(1002): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0239 | 1 | 314 | 0.0032 | 1009 | c.97+ others(1024): Show |
ZBTB8OS | ENSG00000176261.16 | transcript | ENST00000468695.6 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975241 | T | TTATAAAT others(1003): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0148 | 1 | 306 | 0.0033 | 1010 | c.130 others(1029): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1003): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0013 | a0003c0013t0003 | a0003c0013t0003g0038 | 1 | 228 | 0.0044 | 1010 | c.118 others(1029): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1003): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 416 | 0.0024 | 1010 | c.*10 others(1023): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1003): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 298 | 0.0034 | 1010 | c.173 others(1027): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7450757 | T | TTGCTTTC others(1003): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0034 | 1 | 298 | 0.0034 | 1010 | c.173 others(1027): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1003): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 318 | 0.0031 | 1010 | c.285 others(1029): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1003): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 318 | 0.0031 | 1010 | c.285 others(1029): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1003): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 318 | 0.0031 | 1010 | c.285 others(1029): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1003): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 | 1 | 318 | 0.0031 | 1010 | c.285 others(1029): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1003): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 318 | 0.0031 | 1010 | c.285 others(1029): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1003): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 391 | 0.0026 | 1010 | c.*36 others(1021): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1003): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1010 | c.*36 others(1021): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209198 | C | CTCCTTCC others(1003): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0027 | 1 | 142 | 0.0070 | 1010 | c.244 others(1029): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1003): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0209 | 1 | 460 | 0.0022 | 1010 | c.193 others(1027): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647301 | A | ACAATCCT others(1003): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0196 | 1 | 276 | 0.0036 | 1010 | c.*51 others(1021): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1957 | chr15 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTATAAC others(1003): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0223 | 1 | 230 | 0.0044 | 1010 | c.724 others(1029): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251526 | C | CACACATC others(1003): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 116 | 0.0086 | 1010 | c.207 others(1029): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1003): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0020 | a0020c0013 | a0020c0013t0001 | a0020c0013t0001g0184 | 1 | 252 | 0.0040 | 1010 | c.118 others(1029): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02004.hp2 HG03669.hp2 others(1): Show |
a0011a0030a0031 | a0011c0011a0030c0032a0031c0033 | a0011c0011t0001a0030c0032t0001a0031c0033t0001 | a0011c0011t0001g0020a0011c0011t0001g0055a0030c0032t0001g0054others(1): Show | 4 | 82 | 0.0488 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01256.hp2 others(7): Show |
a0004a0007a0008others(6): Show | a0004c0021a0007c0010a0008c0020others(6): Show | a0004c0021t0001a0007c0010t0001a0008c0020t0001others(6): Show | a0004c0021t0001g0069a0007c0010t0001g0021a0007c0010t0001g0079others(7): Show | 10 | 82 | 0.1220 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18522.hp2 |
a0014a0025 | a0014c0029a0025c0024 | a0014c0029t0001a0025c0024t0001 | a0014c0029t0001g0024a0025c0024t0001g0049 | 2 | 82 | 0.0244 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0027 | a0027c0035 | a0027c0035t0001 | a0027c0035t0001g0040 | 1 | 82 | 0.0122 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01069.hp1 others(17): Show |
a0001a0006a0028 | a0001c0001a0006c0004a0028c0034 | a0001c0001t0001a0001c0001t0002a0006c0004t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0026others(17): Show | 20 | 82 | 0.2439 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0031t0001g0075 | 3 | 82 | 0.0366 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137379233 | T | TGCCTGGG others(1003): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 82 | 0.0122 | 1010 | c.120 others(1027): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322871 | A | ATGGAATA others(1003): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0209 | 1 | 323 | 0.0031 | 1010 | c.-21 others(1021): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2098 | chr21 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(1003): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0043 | 1 | 114 | 0.0088 | 1010 | c.56- others(1027): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1003): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 108 | 0.0093 | 1010 | c.648 others(1029): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19478161 | A | AGAGGGGG others(1003): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0024 | 1 | 163 | 0.0061 | 1010 | c.525 others(1027): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1003): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02622.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0083a0002c0002t0006g0084a0002c0002t0006g0085others(1): Show | 4 | 354 | 0.0113 | 1010 | c.999 others(1027): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1003): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0120 | 1 | 208 | 0.0048 | 1010 | c.279 others(1025): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1003): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1010 | c.*31 others(1021): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1003): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1010 | c.*31 others(1021): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1003): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 456 | 0.0044 | 1010 | c.*31 others(1021): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(1003): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 262 | 0.0038 | 1010 | c.129 others(1027): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1003): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0223 | 1 | 308 | 0.0033 | 1010 | c.371 others(1027): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1003): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 308 | 0.0033 | 1010 | c.371 others(1027): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar |