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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA7_chr19_1035107_1070572 | 1049984 | A | ACCACTCC others(989): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0024 | 1 | 30 | 0.0333 | 996 | c.255 others(1013): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100276383 | A | AATGGGAG others(989): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0006 | a0006c0060 | a0006c0060t0014 | a0006c0060t0014g0025 | 1 | 228 | 0.0044 | 996 | c.789 others(1013): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(989): Show |
3_prime_UTR_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0074 | a0001c0002t0074g0049 | 1 | 350 | 0.0029 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(989): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0234 | 1 | 350 | 0.0029 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(989): Show |
3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0056 | a0001c0001t0013g0087a0001c0001t0013g0332a0001c0001t0013g0333others(1): Show | 4 | 350 | 0.0114 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(989): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02622.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0061a0001c0002t0077a0001c0002t0094others(2): Show | a0001c0002t0061g0033a0001c0002t0077g0221a0001c0002t0094g0098others(3): Show | 6 | 350 | 0.0171 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(989): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0005a0001c0002t0049a0001c0002t0051others(3): Show | a0001c0002t0005g0114a0001c0002t0005g0115a0001c0002t0005g0117others(10): Show | 13 | 350 | 0.0371 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADARB1_chr21_45069580_45231560 | 45224526 | G | GGGAGCCC others(989): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0059a0001c0003t0060a0001c0003t0096 | a0001c0003t0059g0070a0001c0003t0060g0069a0001c0003t0096g0039 | 3 | 350 | 0.0086 | 996 | c.*23 others(1007): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(989): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0117 | 1 | 218 | 0.0046 | 996 | c.108 others(1013): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(989): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG02647.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0009a0002c0005t0001g0054a0002c0005t0001g0098 | 3 | 210 | 0.0143 | 996 | c.273 others(1013): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758725 | C | CCTCATTC others(989): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0298 | 1 | 300 | 0.0033 | 996 | c.654 others(1015): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(989): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19006.hp2 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0009c0009t0001 | a0001c0001t0001g0269a0009c0009t0001g0262 | 2 | 326 | 0.0061 | 996 | c.327 others(1013): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(989): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01891.hp1 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0013a0001c0008t0001 | a0001c0001t0001g0143a0001c0001t0001g0145a0001c0001t0001g0152others(19): Show | 22 | 326 | 0.0675 | 996 | c.327 others(1013): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209390 | T | TTCCTTCC others(989): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0087a0001c0001t0002g0089a0001c0001t0034g0088 | 3 | 142 | 0.0211 | 996 | c.244 others(1015): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(989): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0018 | a0018c0036 | a0018c0036t0003 | a0018c0036t0003g0094 | 1 | 236 | 0.0042 | 996 | c.342 others(1017): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNOT3_chr19_54132762_54160681 | 54133822 | T | TCTCTCCC others(989): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 223 | 0.0045 | 996 | c.-42 others(1007): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3939 | chr19 | TogoVar | ||||||
CTNND2_chr5_10966836_11909446 | 11143969 | C | CCTACCAT others(989): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 26 | 0.0385 | 996 | c.215 others(1017): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 12/21 | chr5 | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TACACATA others(989): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 996 | c.*19 others(1007): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878204 | T | TATATATA others(989): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 208 | 0.0048 | 996 | c.192 others(1015): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ELAPOR2_chr7_86871906_87064654 | 86912426 | T | TCAGAAAA others(989): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0024 | 1 | 196 | 0.0051 | 996 | c.199 others(1013): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(989): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0177 | 1 | 292 | 0.0034 | 996 | c.228 others(1013): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(989): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0284 | 1 | 369 | 0.0027 | 996 | c.-50 others(1007): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(989): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0018 | 2 | 366 | 0.0055 | 996 | c.666 others(1013): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252980 | T | TCACCACC others(989): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0101 | 1 | 366 | 0.0027 | 996 | c.666 others(1013): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GET4_chr7_871554_901436 | 890137 | C | CGGGGTCT others(989): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 384 | 0.0026 | 996 | c.467 others(1011): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ACCATCAC others(989): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0167 | 2 | 314 | 0.0064 | 996 | c.-25 others(1013): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8294666 | A | ACTTATCC others(989): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 388 | 0.0026 | 996 | c.105 others(1013): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322291 | T | TATATATA others(989): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 323 | 0.0031 | 996 | c.-27 others(1007): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2678 | chr21 | TogoVar | ||||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(989): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0013 | a0013c0023 | a0013c0023t0017 | a0013c0023t0017g0032 | 1 | 342 | 0.0029 | 996 | c.-10 others(1015): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IL16_chr15_81191879_81319058 | 81198745 | T | TACAGTGG others(989): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0306 | 1 | 342 | 0.0029 | 996 | c.-10 others(1015): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(989): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0191a0001c0001t0214 | a0001c0001t0073g0196a0001c0001t0191g0166a0001c0001t0214g0187 | 3 | 276 | 0.0109 | 996 | c.*65 others(1007): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997284 | G | GGGGGCGG others(989): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0224 | 1 | 375 | 0.0027 | 996 | c.-21 others(1007): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 386 | chr6 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32323106 | A | ATATTTAT others(989): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 242 | 0.0041 | 996 | c.174 others(1015): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126799420 | C | CTGTGTGC others(989): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0038 | 1 | 114 | 0.0088 | 996 | c.55+ others(1015): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667329 | G | GCCCTCCT others(989): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0213 | 1 | 378 | 0.0027 | 996 | c.148 others(1015): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(989): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 398 | 0.0025 | 996 | c.-45 others(1017): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(989): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01243.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034a0001c0001t0001g0108a0001c0002t0001g0005 | 23 | 426 | 0.0540 | 996 | c.273 others(1011): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(989): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0075 | 13 | 426 | 0.0305 | 996 | c.273 others(1011): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PDZK1IP1_chr1_47178582_47195036 | 47184459 | G | GCTCCATC others(989): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 426 | 0.0047 | 996 | c.273 others(1011): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(989): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02300.hp1 HG02300.hp2 others(3): Show |
a0003a0004a0023others(1): Show | a0003c0004a0004c0043a0023c0022others(1): Show | a0003c0004t0001a0004c0043t0001a0023c0022t0001others(1): Show | a0003c0004t0001g0146a0003c0004t0001g0196a0003c0004t0001g0236others(3): Show | 6 | 308 | 0.0195 | 996 | c.371 others(1013): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(989): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 308 | 0.0033 | 996 | c.371 others(1013): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(989): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0014 | a0002c0014t0003 | a0002c0014t0003g0260 | 1 | 302 | 0.0033 | 996 | c.533 others(1013): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276402 | G | GCAGGGAG others(989): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0004 | a0004c0026 | a0004c0026t0003 | a0004c0026t0003g0123a0004c0026t0003g0261 | 2 | 302 | 0.0066 | 996 | c.533 others(1013): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133822 | T | TCTCTCCC others(989): Show |
downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 227 | 0.0044 | 996 | c.*23 others(1007): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2110 | chr19 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492487 | T | TCCCCGGG others(989): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0097 | 1 | 295 | 0.0034 | 996 | c.126 others(1015): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(989): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 67 | 0.0149 | 996 | c.159 others(1013): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(989): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 67 | 0.0149 | 996 | c.159 others(1013): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79483471 | C | CCTCCCTC others(989): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 154 | 0.0065 | 996 | c.-31 others(1013): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130646443 | C | CCACTTCC others(989): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 180 | 0.0056 | 996 | c.-35 others(1017): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(989): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 412 | 0.0218 | 996 | c.-48 others(1007): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar |