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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(778): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 262 | 0.0038 | 785 | c.129 others(802): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(778): Show |
intron_variant | MODIFIER | HG00621.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155a0001c0001t0002g0156 | 2 | 262 | 0.0076 | 785 | c.129 others(802): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(778): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 262 | 0.0038 | 785 | c.129 others(802): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977065 | C | CAACCCCG others(778): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 408 | 0.0025 | 785 | c.215 others(802): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(778): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 282 | 0.0036 | 785 | c.299 others(800): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(778): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 250 | 0.0040 | 785 | c.328 others(804): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(778): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 250 | 0.0040 | 785 | c.328 others(804): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(778): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 250 | 0.0040 | 785 | c.309 others(804): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLEKHN1_chr1_961482_980865 | 977065 | C | CAACCCCG others(778): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 422 | 0.0024 | 785 | c.*24 others(796): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1201 | chr1 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(778): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 67 | 0.0149 | 785 | c.159 others(802): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(778): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0052 | 1 | 67 | 0.0149 | 785 | c.159 others(802): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1073078 | G | GAGCCCCC others(778): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 118 | 0.0085 | 785 | c.224 others(802): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098103 | A | ACACCCAG others(778): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0004 | a0004c0027 | a0004c0027t0004 | a0004c0027t0004g0029 | 1 | 118 | 0.0085 | 785 | c.125 others(802): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(778): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 346 | 0.0029 | 785 | c.-70 others(802): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(778): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 |
a0001a0002 | a0001c0026a0002c0044 | a0001c0026t0004a0002c0044t0007 | a0001c0026t0004g0067a0002c0044t0007g0101 | 2 | 132 | 0.0152 | 785 | c.227 others(804): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TGTGTATG others(778): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 376 | 0.0027 | 785 | c.158 others(804): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | chr9 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(778): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 270 | 0.0037 | 785 | c.-78 others(804): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028765 | C | CCTCGTAA others(778): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0044a0003c0003t0001g0047 | 2 | 224 | 0.0089 | 785 | c.225 others(804): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
ZDHHC9_chrX_129798288_129848886 | 129842566 | T | TAAAACCT others(778): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 258 | 0.0039 | 785 | c.-13 others(802): Show |
ZDHHC9 | ENSG00000188706.13 | transcript | ENST00000357166.11 | protein_coding | 2/10 | chrX | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCCCCCT others(778): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 322 | 0.0031 | 785 | c.4-1 others(798): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0003others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(43): Show | 53 | 322 | 0.1646 | 785 | c.4-1 others(798): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(778): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 322 | 0.0031 | 785 | c.4-1 others(798): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACATCC others(779): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0076 | a0002c0076t0020 | a0002c0076t0020g0277 | 1 | 332 | 0.0030 | 786 | c.318 others(805): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(779): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0131 | 1 | 182 | 0.0055 | 786 | c.505 others(805): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(779): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0044 | a0001c0001t0003g0280a0001c0001t0044g0290 | 2 | 350 | 0.0057 | 786 | c.-47 others(805): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(779): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0025 | a0025c0050 | a0025c0050t0019 | a0025c0050t0019g0025 | 1 | 262 | 0.0038 | 786 | c.775 others(801): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(779): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0148a0002c0012t0003g0149 | 2 | 262 | 0.0076 | 786 | c.775 others(801): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581231 | T | TATGTATA others(779): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0082 | a0001c0002t0082g0016 | 1 | 169 | 0.0059 | 786 | c.48- others(803): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(779): Show |
downstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 416 | 0.0024 | 786 | c.*10 others(799): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2128633 | C | CGCTCCGA others(779): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0326 | 1 | 406 | 0.0025 | 786 | c.806 others(801): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(779): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0212 | 1 | 238 | 0.0042 | 786 | c.787 others(801): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(779): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0108 | 1 | 346 | 0.0029 | 786 | c.963 others(803): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1129019 | C | CGTCACCC others(779): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 326 | 0.0031 | 786 | c.-1- others(801): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293336 | T | TCACCTTC others(779): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0117 | 1 | 284 | 0.0035 | 786 | c.411 others(803): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(779): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0097 | 1 | 284 | 0.0035 | 786 | c.411 others(803): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(779): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02056.hp1 NA18966.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0042 | a0001c0001t0002a0001c0014t0002a0002c0042t0002 | a0001c0001t0002g0122a0001c0001t0002g0165a0001c0014t0002g0066others(3): Show | 6 | 272 | 0.0221 | 786 | c.925 others(801): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(779): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01167.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0027a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0027g0210a0001c0003t0001g0196a0001c0003t0001g0205others(4): Show | 7 | 272 | 0.0257 | 786 | c.925 others(801): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924061 | G | GCCCCCCA others(779): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0123 | 1 | 350 | 0.0029 | 786 | c.488 others(803): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1297569 | G | GACCCCTA others(779): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0128 | 1 | 159 | 0.0063 | 786 | c.810 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1297569 | G | GACCCCTA others(779): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 159 | 0.0063 | 786 | c.810 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1297569 | G | GACCCCTA others(779): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0025a0001c0001t0001g0053a0001c0001t0001g0056others(33): Show | 36 | 159 | 0.2264 | 786 | c.810 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1298242 | T | TCCTACCC others(779): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0028 | 1 | 159 | 0.0063 | 786 | c.811 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878244 | A | AATATATA others(779): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG02257.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0018others(1): Show | 7 | 208 | 0.0337 | 786 | c.192 others(805): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(779): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0106 | 1 | 230 | 0.0044 | 786 | c.724 others(805): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14212196 | T | TTTTACTC others(779): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 | 1 | 148 | 0.0068 | 786 | c.212 others(807): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(779): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 320 | 0.0031 | 786 | c.*39 others(797): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
F7_chr13_113100791_113125685 | 113101123 | C | CGGCTCAC others(779): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0010 | a0002c0010t0015 | a0002c0010t0015g0097 | 1 | 400 | 0.0025 | 786 | c.-47 others(797): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 4667 | chr13 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946707 | T | TATATAAA others(779): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 344 | 0.0029 | 786 | c.617 others(803): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(779): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0246 | 1 | 282 | 0.0036 | 786 | c.684 others(799): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(779): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 155 | 0.0065 | 786 | c.488 others(801): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar |