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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAS6_chr13_113815549_113869076 | 113824057 | A | AGGAGCAC others(791): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0113 | 1 | 142 | 0.0070 | 798 | c.147 others(815): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557406 | A | ATATTATA others(791): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 345 | 0.0029 | 798 | c.94- others(811): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399426 | A | ATCACCAC others(791): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 285 | 0.0035 | 798 | c.-25 others(815): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(791): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 62 | 0.0161 | 798 | c.-21 others(809): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAGA others(791): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0137 | 1 | 233 | 0.0043 | 798 | c.127 others(817): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79887065 | G | GACATGGG others(791): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02965.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0216 a0001c0005t0001g0230 |
2 | 303 | 0.0066 | 798 | c.625 others(817): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44179714 | T | TAGGGATC others(791): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 288 | 0.0035 | 798 | c.962 others(815): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(791): Show |
intron_variant | MODIFIER | NA18969.hp2 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 a0002c0002t0001g0104 |
2 | 242 | 0.0083 | 798 | c.430 others(813): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(791): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 798 | c.-27 others(809): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471437 | T | TTATGTAT others(791): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 240 | 0.0042 | 798 | c.125 others(815): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610869 | A | AGGGTGCT others(791): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 174 | 0.0057 | 798 | c.717 others(815): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953666 | C | CTCCTGCA others(791): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 |
a0001a0007 | a0001c0001a0007c0028 | a0001c0001t0001a0007c0028t0004 | a0001c0001t0001g0154 a0007c0028t0004g0265 |
2 | 266 | 0.0075 | 798 | c.503 others(813): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953697 | A | AACCAGCT others(791): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 242 | 0.0041 | 798 | c.503 others(813): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7061789 | A | AATTATAT others(791): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 263 | 0.0038 | 798 | c.-31 others(809): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3114 | chr19 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(791): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0186 | 1 | 8 | 0.1250 | 798 | c.115 others(815): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(791): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 8 | 0.1250 | 798 | c.250 others(813): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MPG_chr16_73225_90846 | 81997 | T | TCTCCGGG others(791): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 221 | 0.0045 | 798 | c.301 others(813): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(791): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 2 | 136 | 0.0147 | 798 | c.301 others(813): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43500011 | T | TGGTGGTG others(791): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0211 | 1 | 226 | 0.0044 | 798 | c.748 others(815): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(791): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0315 | 1 | 242 | 0.0041 | 798 | c.-5+ others(813): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(791): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 others(1): Show |
4 | 245 | 0.0163 | 798 | c.-5+ others(813): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295611 | G | GACAGACA others(791): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 79 | 0.0127 | 798 | c.-52 others(819): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(791): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 184 | 0.0054 | 798 | c.*28 others(809): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(791): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 184 | 0.0054 | 798 | c.*28 others(809): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(791): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0181 | 1 | 4 | 0.2500 | 798 | c.279 others(813): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 479593 | C | CGGGGTTT others(791): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0117 | 1 | 157 | 0.0064 | 798 | c.-48 others(809): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4611 | chr19 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 479783 | G | GCCTCGGC others(791): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG03139.hp1 HG03139.hp2 others(1): Show |
a0001a0006 | a0001c0007a0006c0010 | a0001c0007t0002a0006c0010t0004 | a0001c0007t0002g0028 a0006c0010t0004g0056 a0006c0010t0004g0058 |
4 | 214 | 0.0187 | 798 | c.-50 others(809): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4801 | chr19 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76305717 | T | TGTATCCA others(791): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0008 | a0008c0003 | a0008c0003t0002 | a0008c0003t0002g0101 | 1 | 144 | 0.0069 | 798 | c.360 others(817): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712912 | C | CCCCGAGA others(791): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02965.hp1 NA18522.hp2 |
a0014 | a0014c0011 | a0014c0011t0007 | a0014c0011t0007g0027 a0014c0011t0007g0028 a0014c0011t0007g0029 |
3 | 277 | 0.0108 | 798 | c.*26 others(809): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2425 | chr16 | TogoVar | |||||||
PTPN4_chr2_119754922_119989899 | 119843900 | G | GGACGGGG others(791): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 201 | 0.0050 | 798 | c.139 others(817): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(791): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0088 | 1 | 199 | 0.0050 | 798 | c.-46 others(809): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(791): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0066 | a0001c0001t0058g0210 a0001c0001t0066g0219 |
2 | 20 | 0.1000 | 798 | c.24+ others(815): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(791): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01123.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0039 a0001c0001t0001g0175 a0001c0001t0003g0169 others(6): Show |
9 | 261 | 0.0345 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(791): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18993.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 |
3 | 269 | 0.0112 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(791): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01496.hp1 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 others(1): Show |
4 | 270 | 0.0148 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(791): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0003g0225 |
3 | 242 | 0.0124 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(791): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01515.hp1 HG01517.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 others(5): Show |
8 | 247 | 0.0324 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(791): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0245 a0001c0001t0003g0241 a0001c0001t0003g0242 others(2): Show |
5 | 244 | 0.0205 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388500 | T | TTATAGCT others(791): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0184 a0002c0002t0001g0185 |
2 | 298 | 0.0067 | 798 | c.66+ others(813): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 288807 | G | GCACCCTC others(791): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0015 | 1 | 108 | 0.0093 | 798 | c.352 others(815): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693708 | A | ACCTCCAC others(791): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 49 | 0.0204 | 798 | c.299 others(815): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(791): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 158 | 0.0063 | 798 | c.626 others(815): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(791): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0152 | 1 | 158 | 0.0063 | 798 | c.626 others(815): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(791): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0247 | 1 | 312 | 0.0032 | 798 | c.115 others(815): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246072200 | A | ATGTGCTT others(791): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0100 | 1 | 38 | 0.0263 | 798 | c.532 others(819): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(791): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 80 | 0.0125 | 798 | c.*64 others(809): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(791): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0142 | 1 | 3 | 0.3333 | 798 | c.597 others(815): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(791): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0104 | 1 | 3 | 0.3333 | 798 | c.597 others(815): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291227 | C | CGCCTCAC others(791): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 300 | 0.0033 | 798 | c.157 others(817): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291227 | C | CGCCTCAC others(791): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 300 | 0.0033 | 798 | c.157 others(817): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar |