view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLK6_chr19_50953631_50974591 | 50959671 | A | AGAGAGAA others(423): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 316 | 0.0032 | 430 | c.583 others(445): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202204692 | C | CCTAACAC others(423): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0021 | a0021c0011 | a0021c0011t0004 | a0021c0011t0004g0027 | 1 | 262 | 0.0038 | 430 | c.212 others(449): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471486 | A | ATATATAT others(423): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02559.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0005 | a0001c0001t0001g0244 a0003c0003t0005g0255 a0003c0003t0005g0256 |
3 | 260 | 0.0115 | 430 | c.125 others(447): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LTBP2_chr14_74493183_74617237 | 74564165 | A | ATATATAT others(423): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0058 | a0005c0058t0007 | a0005c0058t0007g0276 | 1 | 282 | 0.0036 | 430 | c.831 others(447): Show |
LTBP2 | ENSG00000119681.12 | transcript | ENST00000261978.9 | protein_coding | 3/35 | chr14 | TogoVar | |||||||
MAPKAP1_chr9_125432394_125712208 | 125458888 | G | GCGGGGTG others(423): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18962.hp1 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0003c0007t0001 | a0001c0002t0001g0294 a0003c0007t0001g0224 |
2 | 300 | 0.0067 | 430 | c.134 others(449): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(423): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 430 | c.-31 others(441): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(423): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01517.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0001 a0002c0002t0003g0031 |
2 | 288 | 0.0069 | 430 | c.-31 others(441): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(423): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01952.hp2 HG02004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 288 | 0.0139 | 430 | c.-31 others(441): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(423): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 288 | 0.0035 | 430 | c.-31 others(441): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(423): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 288 | 0.0035 | 430 | c.-31 others(441): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090493 | C | CCCACACA others(423): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 399 | 0.0025 | 430 | c.557 others(447): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(423): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 a0001c0001t0004g0202 |
2 | 390 | 0.0051 | 430 | c.112 others(447): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(423): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0239 | 1 | 390 | 0.0026 | 430 | c.112 others(447): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MGRN1_chr16_4619826_4695972 | 4648839 | C | CGGGACTC others(423): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 334 | 0.0030 | 430 | c.89- others(445): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MMACHC_chr1_45495300_45518382 | 45497643 | C | CGCCACCC others(423): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 386 | 0.0026 | 430 | c.-26 others(441): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 2656 | chr1 | TogoVar | |||||||
MMACHC_chr1_45495300_45518382 | 45497643 | C | CGCCACCC others(423): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG02004.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0010others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0002t0001g0022 others(3): Show |
6 | 386 | 0.0155 | 430 | c.-26 others(441): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 2656 | chr1 | TogoVar | |||||||
MMACHC_chr1_45495300_45518382 | 45497643 | C | CGCCACCC others(423): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01106.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(8): Show | a0001c0001t0002g0003 a0001c0001t0002g0105 a0001c0001t0006g0107 others(11): Show |
17 | 386 | 0.0440 | 430 | c.-26 others(441): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 2656 | chr1 | TogoVar | |||||||
MMACHC_chr1_45495300_45518382 | 45497643 | C | CGCCACCC others(423): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0014 | 1 | 386 | 0.0026 | 430 | c.-26 others(441): Show |
MMACHC | ENSG00000132763.15 | transcript | ENST00000401061.9 | protein_coding | 2656 | chr1 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43475478 | G | GGTGATAA others(423): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0020a0001c0007t0002a0001c0007t0008 | a0001c0003t0020g0031 a0001c0007t0002g0198 a0001c0007t0002g0203 others(2): Show |
5 | 250 | 0.0200 | 430 | c.632 others(445): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(423): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0015 |
2 | 364 | 0.0055 | 430 | c.*18 others(441): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(423): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 364 | 0.0028 | 430 | c.*18 others(441): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MTTP_chr4_99569824_99628997 | 99588815 | A | ACATATAT others(423): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0014 | a0014c0018 | a0014c0018t0003 | a0014c0018t0003g0320 | 1 | 364 | 0.0028 | 430 | c.394 others(445): Show |
MTTP | ENSG00000138823.14 | transcript | ENST00000265517.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(423): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18978.hp1 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0062 a0004c0006t0004g0123 |
2 | 326 | 0.0061 | 430 | c.358 others(447): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690669 | T | TATATATA others(423): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0122 | 1 | 326 | 0.0031 | 430 | c.358 others(447): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79494325 | A | ACGGCCGG others(423): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0133 | 1 | 322 | 0.0031 | 430 | c.278 others(449): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8678103 | A | ATCCATTC others(423): Show |
3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0340 | 1 | 366 | 0.0027 | 430 | c.*47 others(439): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 6/6 | 474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149842 | C | CACCACAC others(423): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 294 | 0.0034 | 430 | c.901 others(445): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150175 | C | CGCCGCCT others(423): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 294 | 0.0034 | 430 | c.902 others(445): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NPBWR2_chr20_64098802_64112565 | 64105725 | G | GATGGTGG others(423): Show |
3_prime_UTR_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0008 | a0001c0008t0110 | a0001c0008t0110g0047 | 1 | 355 | 0.0028 | 430 | c.*10 others(439): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 104 | chr20 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949337 | G | GGCCTCCT others(423): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 242 | 0.0041 | 430 | c.360 others(449): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514484 | T | TCCCTTTC others(423): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 114 | 0.0088 | 430 | c.-25 others(449): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(423): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 400 | 0.0025 | 430 | c.*70 others(441): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(423): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 400 | 0.0025 | 430 | c.*70 others(441): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(423): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 262 | 0.0038 | 430 | c.129 others(447): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(423): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 262 | 0.0038 | 430 | c.129 others(447): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(423): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18939.hp1 NA18956.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0103 a0001c0001t0002g0088 others(1): Show |
4 | 262 | 0.0153 | 430 | c.129 others(447): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(423): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03453.hp1 |
a0001 | a0001c0003a0001c0019 | a0001c0003t0003a0001c0003t0004a0001c0019t0003 | a0001c0003t0003g0079 a0001c0003t0004g0251 a0001c0019t0003g0245 |
3 | 262 | 0.0115 | 430 | c.129 others(447): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106374 | C | CGTGGTTC others(423): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 NA19080.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0118 | a0001c0001t0022g0003 a0001c0001t0118g0003 |
3 | 398 | 0.0075 | 430 | c.*18 others(443): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 979 | chr22 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106374 | C | CGTGGTTC others(423): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(68): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 others(100): Show |
128 | 398 | 0.3216 | 430 | c.*18 others(443): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 979 | chr22 | TogoVar | |||||||
PEX26_chr22_18072990_18110396 | 18106374 | C | CGTGGTTC others(423): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 398 | 0.0025 | 430 | c.*18 others(443): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 979 | chr22 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401841 | A | ACCCCCGA others(423): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 216 | 0.0046 | 430 | c.173 others(449): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799580 | G | GTGGTGGT others(423): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0025 | 1 | 178 | 0.0056 | 430 | c.185 others(449): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PWWP3A_chr19_1349959_1383429 | 1368918 | C | CCAGCCCA others(423): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 | 1 | 412 | 0.0024 | 430 | c.142 others(447): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468230 | G | GGGAGGAG others(423): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp1 others(38): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0140 others(38): Show |
41 | 295 | 0.1390 | 430 | c.809 others(447): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 468230 | G | GGGAGGAG others(423): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0139 | 1 | 295 | 0.0034 | 430 | c.809 others(447): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGG others(423): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 295 | 0.0034 | 430 | c.126 others(449): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAC2_chr22_37220270_37249269 | 37227240 | T | TCCTCCCA others(423): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0177 | 1 | 448 | 0.0022 | 430 | c.449 others(445): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099890 | G | GCCCCCCA others(423): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 67 | 0.0149 | 430 | c.56- others(447): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(423): Show |
intron_variant | MODIFIER | HG01168.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0210 a0001c0001t0011g0274 |
2 | 276 | 0.0073 | 430 | c.132 others(447): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCAGAG others(423): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0062 | a0005c0062t0001 | a0005c0062t0001g0140 | 1 | 312 | 0.0032 | 430 | c.188 others(449): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |