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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 246325070 | G | GGGGGGGC others(934): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 71 | 0.0141 | 941 | c.531 others(958): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273573 | C | CGCCATCC others(934): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 358 | 0.0028 | 941 | c.228 others(960): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(934): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 2 | 420 | 0.0048 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(934): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 419 | 0.0024 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 |
2 | 207 | 0.0097 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0140 a0001c0001t0003g0006 a0001c0001t0003g0022 others(6): Show |
17 | 222 | 0.0766 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0149 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | 207 | 0.0097 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 3 | 208 | 0.0144 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 206 | 0.0049 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328762 | T | TTGTGTGT others(934): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 425 | 0.0024 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02965.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 a0001c0001t0002g0220 |
3 | 264 | 0.0114 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 262 | 0.0038 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 263 | 0.0076 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 262 | 0.0038 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(934): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 262 | 0.0038 | 941 | c.199 others(958): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(934): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0016 | 1 | 298 | 0.0034 | 941 | c.-13 others(952): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | |||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(934): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0014 | 1 | 298 | 0.0034 | 941 | c.-13 others(952): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(935): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0007 | 1 | 159 | 0.0063 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(935): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 30 | 0.0333 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(935): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18994.hp2 NA19082.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0017t0001g0052 |
3 | 32 | 0.0938 | 942 | c.505 others(961): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(935): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 3 | 0.3333 | 942 | c.787 others(957): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(935): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0180 | 1 | 72 | 0.0139 | 942 | c.273 others(959): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1432505 | T | TCAGCAGT others(935): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 | 1 | 242 | 0.0041 | 942 | c.92- others(957): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(935): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 350 | 0.0029 | 942 | c.666 others(957): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(935): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0030 | a0030c0027 | a0030c0027t0001 | a0030c0027t0001g0002 | 1 | 350 | 0.0029 | 942 | c.666 others(957): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132895941 | C | CCACATGA others(935): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0008 | a0008c0097 | a0008c0097t0001 | a0008c0097t0001g0120 | 1 | 210 | 0.0048 | 942 | c.321 others(961): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320494 | A | AATATAAT others(935): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0016 | 1 | 211 | 0.0047 | 942 | c.342 others(963): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(935): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0136 a0002c0002t0003g0083 |
2 | 5 | 0.4000 | 942 | c.342 others(961): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATGGA others(935): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 a0001c0001t0003g0053 |
2 | 5 | 0.4000 | 942 | c.342 others(961): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(935): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 6 | 0.1667 | 942 | c.380 others(959): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(935): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0165 | 1 | 196 | 0.0051 | 942 | c.181 others(961): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(935): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0079 | 1 | 273 | 0.0037 | 942 | c.85- others(959): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(935): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0032 | 1 | 78 | 0.0128 | 942 | c.183 others(961): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 NA19030.hp1 |
a0001a0030 | a0001c0001a0030c0032 | a0001c0001t0001a0030c0032t0001 | a0001c0001t0001g0085 a0030c0032t0001g0086 |
2 | 87 | 0.0230 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 86 | 0.0116 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(935): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 HG03516.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0015 | a0001c0001t0001a0002c0015t0001 | a0001c0001t0001g0076 a0002c0015t0001g0206 a0002c0015t0001g0209 |
3 | 88 | 0.0341 | 942 | c.*39 others(953): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252869 | C | CCACCATC others(935): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0070 | a0002c0003t0070g0224 | 1 | 363 | 0.0028 | 942 | c.666 others(959): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(935): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03225.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0001 a0002c0006t0002g0106 |
2 | 11 | 0.1818 | 942 | c.310 others(957): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218221 | C | CCACACCC others(935): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0009 | 1 | 81 | 0.0123 | 942 | c.*27 others(953): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1052 | chr8 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602941 | C | CAGGCGCC others(935): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 103 | 0.0097 | 942 | c.633 others(957): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |