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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(777): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 | 1 | 114 | 0.0088 | 784 | c.*80 others(795): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
GRIK3_chr1_36790527_37039515 | 36793822 | T | TTGGGTGG others(777): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 114 | 0.0088 | 784 | c.*80 others(795): Show |
GRIK3 | ENSG00000163873.10 | transcript | ENST00000373091.8 | protein_coding | 1704 | chr1 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1360946 | C | CCTCTCTG others(777): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0005 | a0005c0012 | a0005c0012t0003 | a0005c0012t0003g0020 | 1 | 115 | 0.0087 | 784 | c.759 others(801): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(777): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0242 | 1 | 242 | 0.0041 | 784 | c.174 others(803): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(777): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 784 | c.-27 others(795): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507259 | G | GGGTAGGG others(777): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0037 | 1 | 260 | 0.0039 | 784 | c.624 others(801): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LINGO2_chr9_27932617_29218601 | 28189313 | A | AAGGGAGG others(777): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0023 | a0001c0001t0005g0059a0001c0001t0023g0037 | 2 | 62 | 0.0323 | 784 | c.-36 others(805): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(777): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 784 | c.-42 others(795): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(777): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0272 | 1 | 290 | 0.0035 | 784 | c.129 others(801): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(777): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0084 | 1 | 228 | 0.0044 | 784 | c.337 others(803): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(777): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0153 | 1 | 228 | 0.0044 | 784 | c.337 others(803): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186153 | G | GGAGGAAC others(777): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 350 | 0.0029 | 784 | c.*30 others(795): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2836 | chr16 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(777): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 318 | 0.0031 | 784 | c.-49 others(795): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(777): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0109 | 1 | 256 | 0.0039 | 784 | c.241 others(803): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(777): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0125 | 1 | 256 | 0.0039 | 784 | c.241 others(803): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(777): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 | 1 | 330 | 0.0030 | 784 | c.-5+ others(799): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977897 | G | GGAAGGAG others(777): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0192 | 1 | 208 | 0.0048 | 784 | c.279 others(799): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237635 | C | CTATATAT others(777): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 439 | 0.0023 | 784 | c.-17 others(795): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1650 | chr14 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(777): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02976.hp1 NA19240.hp1 |
a0000 | a0000c0007a0000c0019 | a0000c0007t0002a0000c0019t0002 | a0000c0007t0002g0147a0000c0007t0002g0213a0000c0019t0002g0148 | 3 | 250 | 0.0120 | 784 | c.309 others(803): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(777): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0002g0142 | 3 | 250 | 0.0120 | 784 | c.309 others(803): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(777): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136a0001c0001t0002g0137a0001c0001t0002g0138others(5): Show | 8 | 250 | 0.0320 | 784 | c.309 others(803): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(777): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 250 | 0.0040 | 784 | c.309 others(803): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCXD1_chrX_276381_308356 | 298386 | A | ACATTATT others(777): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0058 | a0001c0003t0058g0103 | 1 | 176 | 0.0057 | 784 | c.734 others(799): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(777): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0212 | 2 | 374 | 0.0054 | 784 | c.-46 others(795): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273432 | C | CGACGTCA others(777): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0055 | 1 | 133 | 0.0075 | 784 | c.438 others(801): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273432 | C | CGACGTCA others(777): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 133 | 0.0075 | 784 | c.438 others(801): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(777): Show |
intron_variant | MODIFIER | HG00639.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0123a0001c0001t0004g0058 | 2 | 170 | 0.0118 | 784 | c.59- others(801): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(777): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0128 | 1 | 170 | 0.0059 | 784 | c.59- others(801): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288356 | T | TCTGCTCC others(777): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 290 | 0.0035 | 784 | c.166 others(801): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(777): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 324 | 0.0031 | 784 | c.115 others(801): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(777): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 324 | 0.0031 | 784 | c.115 others(801): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(777): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 324 | 0.0031 | 784 | c.115 others(801): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(777): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0136 | 1 | 370 | 0.0027 | 784 | c.284 others(803): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(777): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0139 | 1 | 370 | 0.0027 | 784 | c.284 others(803): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | ||||||
SLC2A9_chr4_9821224_10026497 | 9875235 | C | CTCTGTCT others(777): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0279 | 1 | 336 | 0.0030 | 784 | c.129 others(805): Show |
SLC2A9 | ENSG00000109667.12 | transcript | ENST00000264784.8 | protein_coding | 10/11 | chr4 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(777): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0007 | a0002c0007t0011 | a0002c0007t0011g0033 | 1 | 420 | 0.0024 | 784 | c.107 others(801): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(777): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 340 | 0.0029 | 784 | c.*17 others(803): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501118 | C | CATATTTT others(777): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 340 | 0.0029 | 784 | c.*17 others(803): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01993.hp2 HG02129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0074a0001c0001t0001g0164others(1): Show | 4 | 270 | 0.0148 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232a0001c0001t0001g0249 | 2 | 270 | 0.0074 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(42): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0020others(42): Show | 45 | 270 | 0.1667 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0269 | 1 | 270 | 0.0037 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0231 | 2 | 270 | 0.0074 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0033a0001c0001t0001g0034others(3): Show | 6 | 270 | 0.0222 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 270 | 0.0037 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0023 | 2 | 270 | 0.0074 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(777): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 270 | 0.0037 | 784 | c.-78 others(803): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46772609 | T | TATATATG others(777): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0051 | 2 | 112 | 0.0179 | 784 | c.62+ others(799): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82765169 | C | CTGTGTGC others(777): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0041 | a0001c0041t0003 | a0001c0041t0003g0133 | 1 | 318 | 0.0031 | 784 | c.334 others(801): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1272607 | C | CCACACAT others(777): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 392 | 0.0026 | 784 | c.228 others(801): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar |