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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(901): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 242 | 0.0041 | 908 | c.276 others(923): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(901): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0016 | a0016c0056 | a0016c0056t0004 | a0016c0056t0004g0089 | 1 | 284 | 0.0035 | 908 | c.411 others(925): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(901): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 NA18944.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0111a0002c0002t0001g0112a0002c0002t0001g0114others(4): Show | 7 | 320 | 0.0219 | 908 | c.937 others(923): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(901): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093a0002c0002t0001g0124 | 2 | 320 | 0.0063 | 908 | c.937 others(923): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(901): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02647.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0177a0001c0001t0004g0014a0001c0001t0004g0015others(6): Show | 9 | 320 | 0.0281 | 908 | c.937 others(923): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(901): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0067 | a0004c0067t0001 | a0004c0067t0001g0007 | 1 | 344 | 0.0029 | 908 | c.85- others(925): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647631 | T | TCCCCCTC others(901): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0253 | 1 | 276 | 0.0036 | 908 | c.*54 others(919): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2287 | chr15 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325898 | T | TTGGGGGA others(901): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 100 | 0.0100 | 908 | c.292 others(927): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DEAF1_chr11_639233_700222 | 642849 | G | GAGGGTCA others(901): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 345 | 0.0029 | 908 | c.*17 others(919): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1383 | chr11 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(901): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 148 | 0.0068 | 908 | c.183 others(927): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(901): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0086 | 1 | 148 | 0.0068 | 908 | c.183 others(927): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642849 | G | GAGGGTCA others(901): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0017 | 1 | 421 | 0.0024 | 908 | c.*22 others(919): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2144 | chr11 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(901): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 NA18989.hp2 NA19067.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033a0001c0004t0001g0073a0001c0004t0001g0078 | 4 | 374 | 0.0107 | 908 | c.*14 others(919): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(901): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG01069.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0003g0003a0001c0001t0003g0011a0001c0001t0003g0033others(29): Show | 45 | 380 | 0.1184 | 908 | c.-27 others(919): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(901): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 380 | 0.0026 | 908 | c.-27 others(919): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(901): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0152 | 1 | 380 | 0.0026 | 908 | c.-27 others(919): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924614 | G | GTGTGTGA others(901): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0019 | a0001c0001t0002g0136a0001c0001t0002g0138a0001c0001t0007g0038others(5): Show | 9 | 380 | 0.0237 | 908 | c.-27 others(919): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2674 | chr1 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924615 | T | TGTGTGAG others(901): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025a0001c0001t0006g0050a0001c0001t0006g0253 | 6 | 380 | 0.0158 | 908 | c.-27 others(919): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2675 | chr1 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551580 | A | AGGGGAGG others(901): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 46 | 0.0217 | 908 | c.-17 others(927): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60861215 | T | TATATGAT others(901): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 46 | 0.0217 | 908 | c.-11 others(929): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
FLT3_chr13_27998274_28105576 | 27998958 | A | AATATATA others(901): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0147 | 1 | 292 | 0.0034 | 908 | c.*50 others(919): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4315 | chr13 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121464630 | C | CAAAACAA others(901): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0246a0001c0001t0002g0250others(7): Show | 11 | 338 | 0.0325 | 908 | c.81- others(923): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
GGTA1_chr9_121450040_121504844 | 121464991 | A | AAAAAAAA others(901): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 338 | 0.0030 | 908 | c.81- others(923): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 2/5 | chr9 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(901): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0005 | a0003c0005t0038 | a0003c0005t0038g0200 | 1 | 208 | 0.0048 | 908 | c.-97 others(925): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GRIN3A_chr9_101564352_101743647 | 101628924 | C | CTCTTTCC others(901): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02886.hp1 others(2): Show |
a0001a0003 | a0001c0048a0003c0016 | a0001c0048t0023a0003c0016t0016 | a0001c0048t0023g0138a0003c0016t0016g0028a0003c0016t0016g0029others(2): Show | 5 | 324 | 0.0154 | 908 | c.235 others(925): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 3/8 | chr9 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA others(901): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0115 | 1 | 256 | 0.0039 | 908 | c.183 others(927): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 103869 | G | GGGGGTAG others(901): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0001 | a0002c0001t0050 | a0002c0001t0050g0051 | 1 | 282 | 0.0036 | 908 | c.623 others(925): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(901): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 312 | 0.0032 | 908 | c.-41 others(923): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(901): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01978.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0017a0001c0003t0001others(1): Show | a0001c0001t0002g0110a0001c0001t0017g0093a0001c0003t0001g0048others(1): Show | 4 | 114 | 0.0351 | 908 | c.56- others(925): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(901): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 1 | 422 | 0.0024 | 908 | c.-29 others(919): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(901): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0216 | 1 | 290 | 0.0035 | 908 | c.129 others(925): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(901): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 276 | 0.0036 | 908 | c.100 others(927): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(901): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 330 | 0.0030 | 908 | c.-5+ others(923): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949449 | G | GCGGCCTC others(901): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 242 | 0.0041 | 908 | c.360 others(927): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(901): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 908 | c.*31 others(919): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(901): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 908 | c.*31 others(919): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(901): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01074.hp2 others(43): Show |
a0003a0009 | a0003c0003a0003c0005a0003c0017others(1): Show | a0003c0003t0003a0003c0003t0010a0003c0003t0011others(9): Show | a0003c0003t0003g0004a0003c0003t0003g0012a0003c0003t0003g0023others(15): Show | 46 | 402 | 0.1144 | 908 | c.*57 others(919): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(901): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 908 | c.*57 others(919): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(901): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0014 | a0003c0014t0033 | a0003c0014t0033g0098 | 1 | 402 | 0.0025 | 908 | c.*57 others(919): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924614 | G | GTGTGTGA others(901): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02615.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0022 | a0003c0003t0003g0009a0003c0003t0003g0097a0003c0003t0003g0117others(1): Show | 9 | 402 | 0.0224 | 908 | c.*57 others(919): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3907 | chr1 | TogoVar | ||||||
PIGR_chr1_206923522_206951466 | 206924615 | T | TGTGTGAG others(901): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03225.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0008 | a0003c0003t0004g0013a0003c0003t0008g0078 | 6 | 402 | 0.0149 | 908 | c.*57 others(919): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3906 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(901): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0029 | 1 | 308 | 0.0033 | 908 | c.371 others(925): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 402466 | G | GGGACCCG others(901): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 216 | 0.0046 | 908 | c.173 others(925): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(901): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 312 | 0.0032 | 908 | c.306 others(927): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCCGGG others(901): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0126 | 1 | 295 | 0.0034 | 908 | c.126 others(927): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(901): Show |
intron_variant | MODIFIER | HG01192.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0049a0001c0001t0011g0035 | 2 | 68 | 0.0294 | 908 | c.27+ others(925): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388407 | T | TTATAGCT others(901): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 304 | 0.0033 | 908 | c.66+ others(923): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130392726 | G | GTCATCAT others(901): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 HG03704.hp1 NA18986.hp1 others(1): Show |
a0001a0018 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0002t0001g0046a0001c0003t0001g0163a0001c0007t0001g0138others(1): Show | 4 | 180 | 0.0222 | 908 | c.*46 others(919): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3406 | chr12 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(901): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0129 | 1 | 160 | 0.0063 | 908 | c.389 others(929): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(901): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0159 | 1 | 378 | 0.0027 | 908 | c.937 others(925): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |