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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TFRC_chr3_196044284_196087090 | 196081761 | G | GGAAGGGA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 others(11): Show |
14 | 382 | 0.0366 | 15 | c.-24 others(30): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 1/18 | chr3 | TogoVar | |||||||
TFRC_chr3_196044284_196087090 | 196081775 | G | GCGAAGGG others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0027 | 2 | 382 | 0.0052 | 15 | c.-24 others(30): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 1/18 | chr3 | TogoVar | |||||||
TGDS_chr13_94569054_94601152 | 94578370 | A | AAGTGGCA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(241): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(126): Show |
244 | 372 | 0.6559 | 15 | c.660 others(30): Show |
TGDS | ENSG00000088451.11 | transcript | ENST00000261296.7 | protein_coding | 8/11 | chr13 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70449186 | T | TATTGTCT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0006 | a0001c0006t0036 | a0001c0006t0036g0042 | 1 | 270 | 0.0037 | 15 | c.*16 others(26): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 6/6 | 1672 | chr2 | TogoVar | ||||||
TGFA_chr2_70442284_70558826 | 70504433 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0254 a0002c0003t0001g0118 |
2 | 188 | 0.0106 | 15 | c.94+ others(32): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70521609 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0080 a0001c0002t0015g0117 |
2 | 278 | 0.0072 | 15 | c.41- others(30): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70556207 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0084 | 1 | 143 | 0.0070 | 15 | c.-24 others(26): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2382 | chr2 | TogoVar | |||||||
TGFBI_chr5_136023988_136068818 | 136066909 | A | ACACACAC others(8): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0186 | 1 | 43 | 0.0233 | 15 | c.*36 others(26): Show |
TGFBI | ENSG00000120708.17 | transcript | ENST00000442011.7 | protein_coding | 3092 | chr5 | TogoVar | |||||||
TGFBR1_chr9_99100113_99159192 | 99111295 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0297 a0001c0001t0017g0298 |
2 | 133 | 0.0150 | 15 | c.97+ others(30): Show |
TGFBR1 | ENSG00000106799.14 | transcript | ENST00000374994.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30648460 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0042 | a0001c0001t0001g0333 a0001c0002t0042g0105 |
2 | 268 | 0.0075 | 15 | c.264 others(32): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR3_chr1_91675343_91891151 | 91787943 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02615.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0008a0001c0003t0005a0001c0007t0008others(1): Show | a0001c0001t0008g0279 a0001c0003t0005g0114 a0001c0007t0008g0052 others(1): Show |
4 | 234 | 0.0171 | 15 | c.246 others(32): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 3/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91815301 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0277 | 1 | 60 | 0.0167 | 15 | c.62- others(32): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 2/16 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91887236 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp2 |
a0001a0007 | a0001c0003a0007c0022 | a0001c0003t0003a0007c0022t0008 | a0001c0003t0003g0163 a0007c0022t0008g0162 |
2 | 80 | 0.0250 | 15 | c.-14 others(26): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 1086 | chr1 | TogoVar | |||||||
TGFBR3_chr1_91675343_91891151 | 91887262 | T | TTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0010a0001c0003t0003a0001c0015t0006 | a0001c0001t0010g0264 a0001c0003t0003g0266 a0001c0015t0006g0278 others(1): Show |
4 | 249 | 0.0161 | 15 | c.-14 others(26): Show |
TGFBR3 | ENSG00000069702.11 | transcript | ENST00000212355.9 | protein_coding | 1112 | chr1 | TogoVar | |||||||
TGIF1_chr18_3445172_3464978 | 3448717 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 232 | 0.0043 | 15 | c.-17 others(26): Show |
TGIF1 | ENSG00000177426.22 | transcript | ENST00000343820.10 | protein_coding | 1454 | chr18 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38149678 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0135 a0001c0004t0004g0169 |
2 | 225 | 0.0089 | 15 | c.552 others(32): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38149692 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03710.hp1 HG06807.hp2 NA18954.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0002 | a0001c0001t0001g0133 a0001c0001t0001g0200 a0001c0002t0002g0276 others(10): Show |
16 | 343 | 0.0466 | 15 | c.552 others(32): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
TGM3_chr20_2291001_2346079 | 2302714 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 41 | 0.0244 | 15 | c.7+6 others(28): Show |
TGM3 | ENSG00000125780.12 | transcript | ENST00000381458.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TGM5_chr15_43227590_43271928 | 43229124 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0003a0002c0007others(2): Show | a0001c0002t0001a0002c0003t0001a0002c0007t0006others(2): Show | a0001c0002t0001g0032 a0001c0002t0001g0047 a0002c0003t0001g0003 others(22): Show |
45 | 267 | 0.1685 | 15 | c.*40 others(26): Show |
TGM5 | ENSG00000104055.17 | transcript | ENST00000220420.10 | protein_coding | 3465 | chr15 | TogoVar | |||||||
TGM6_chr20_2375901_2437753 | 2376072 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01358.hp2 HG02080.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0212 a0001c0001t0001g0299 a0001c0001t0002g0012 others(7): Show |
10 | 218 | 0.0459 | 15 | c.-48 others(26): Show |
TGM6 | ENSG00000166948.10 | transcript | ENST00000202625.7 | protein_coding | 4828 | chr20 | TogoVar | |||||||
TGM6_chr20_2375901_2437753 | 2406831 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0187 a0001c0002t0001g0354 |
2 | 4 | 0.5000 | 15 | c.133 others(34): Show |
TGM6 | ENSG00000166948.10 | transcript | ENST00000202625.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TGM7_chr15_43271271_43307255 | 43297587 | T | TAGAAGAA others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 123 | 0.0081 | 15 | c.11- others(30): Show |
TGM7 | ENSG00000159495.8 | transcript | ENST00000452443.3 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
TGS1_chr8_55768446_55831445 | 55769018 | T | TAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0058 |
2 | 144 | 0.0139 | 15 | c.-46 others(26): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 4427 | chr8 | TogoVar | |||||||
TGS1_chr8_55768446_55831445 | 55769018 | T | TTAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0004g0016 others(7): Show |
10 | 152 | 0.0658 | 15 | c.-46 others(26): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 4427 | chr8 | TogoVar | |||||||
TGS1_chr8_55768446_55831445 | 55814674 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 275 | 0.0036 | 15 | c.243 others(34): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 12/12 | chr8 | TogoVar | |||||||
TGS1_chr8_55768446_55831445 | 55829403 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0027 others(5): Show |
8 | 72 | 0.1111 | 15 | c.*47 others(26): Show |
TGS1 | ENSG00000137574.11 | transcript | ENST00000260129.6 | protein_coding | 2959 | chr8 | TogoVar | |||||||
TG_chr8_132861958_133139899 | 133107982 | C | CTTTTTCT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02258.hp1 others(21): Show |
a0001a0008a0018others(15): Show | a0001c0002a0008c0018a0008c0037others(18): Show | a0001c0002t0001a0008c0018t0001a0008c0037t0001others(18): Show | a0001c0002t0001g0060 a0001c0002t0001g0063 a0008c0018t0001g0137 others(21): Show |
24 | 194 | 0.1237 | 15 | c.757 others(34): Show |
TG | ENSG00000042832.12 | transcript | ENST00000220616.9 | protein_coding | 43/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
THADA_chr2_43225851_43601038 | 43245172 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 61 | 0.0164 | 15 | c.529 others(36): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 36/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43291454 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01074.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0002t0001others(1): Show | a0001c0001t0001g0096 a0001c0001t0001g0121 a0001c0001t0001g0164 others(7): Show |
10 | 53 | 0.1887 | 15 | c.501 others(32): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 34/37 | chr2 | TogoVar | |||||||
THADA_chr2_43225851_43601038 | 43431841 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 NA19001.hp2 |
a0001a0022 | a0001c0001a0022c0034 | a0001c0001t0001a0022c0034t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0022c0034t0001g0192 |
3 | 69 | 0.0435 | 15 | c.383 others(34): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 26/37 | chr2 | TogoVar | |||||||
THAP11_chr16_67837320_67849195 | 67842923 | G | GCAGCAGC others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02027.hp2 NA18995.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 2 | 283 | 0.0071 | 15 | c.383 others(22): Show |
p.Gln others(13): Show |
THAP11 | ENSG00000168286.3 | transcript | ENST00000303596.3 | protein_coding | 1/1 | 619/1876 | 384/945 | 128/314 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
THAP2_chr12_71659301_71685644 | 71681646 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 15 | c.*45 others(26): Show |
THAP2 | ENSG00000173451.7 | transcript | ENST00000308086.3 | protein_coding | 1003 | chr12 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579842 | G | GAGCTAAC others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01358.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0237 a0002c0003t0001g0196 |
2 | 337 | 0.0059 | 15 | c.*47 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4562 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579862 | A | AACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 |
3 | 386 | 0.0078 | 15 | c.*47 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4542 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579892 | A | AACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0350 | 1 | 385 | 0.0026 | 15 | c.*47 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4512 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579952 | A | AACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0303 | 1 | 380 | 0.0026 | 15 | c.*46 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4452 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579982 | T | TACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 254 | 0.0039 | 15 | c.*46 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4422 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241579997 | A | AACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03834.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0002t0001g0104 others(3): Show |
6 | 273 | 0.0220 | 15 | c.*46 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4407 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241580012 | A | AACCCACG others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01891.hp2 HG01934.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0006 | a0001c0002t0001a0002c0004t0001a0002c0004t0003others(1): Show | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0208 others(7): Show |
10 | 337 | 0.0297 | 15 | c.*45 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4392 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241580179 | T | TCCACGGC others(8): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0092 | 1 | 388 | 0.0026 | 15 | c.*44 others(26): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 4225 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241585912 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG02559.hp1 others(12): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0198 a0001c0002t0001g0282 a0001c0002t0001g0285 others(12): Show |
15 | 280 | 0.0536 | 15 | c.161 others(34): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP5_chr7_108557132_108574706 | 108558414 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0015 | 1 | 420 | 0.0024 | 15 | c.*57 others(26): Show |
THAP5 | ENSG00000177683.14 | transcript | ENST00000415914.4 | protein_coding | 3717 | chr7 | TogoVar | |||||||
THAP8_chr19_36029984_36059285 | 36037381 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 434 | 0.0023 | 15 | c.673 others(32): Show |
THAP8 | ENSG00000161277.11 | transcript | ENST00000292894.2 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
THBD_chr20_23040633_23054672 | 23041182 | C | CATTTTAC others(8): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 466 | 0.0021 | 15 | c.*65 others(26): Show |
THBD | ENSG00000178726.7 | transcript | ENST00000377103.3 | protein_coding | 4450 | chr20 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169238657 | T | TTCTGCAT others(8): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0065 | 1 | 394 | 0.0025 | 15 | c.113 others(32): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 7/21 | chr6 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242633 | C | CTTCCTAT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00733.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(6): Show | a0001c0001t0001g0026 a0001c0001t0005g0104 a0001c0001t0005g0105 others(14): Show |
19 | 347 | 0.0548 | 15 | c.695 others(30): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242667 | C | CTTCCCAT others(8): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0316 | 1 | 393 | 0.0025 | 15 | c.695 others(30): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
THBS4_chr5_80030348_80088287 | 80080579 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00733.hp1 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004others(1): Show | a0001c0002t0001a0001c0003t0001a0002c0004t0001others(1): Show | a0001c0002t0001g0241 a0001c0002t0001g0271 a0001c0002t0001g0274 others(14): Show |
19 | 136 | 0.1397 | 15 | c.268 others(32): Show |
THBS4 | ENSG00000113296.14 | transcript | ENST00000350881.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
THBS4_chr5_80030348_80088287 | 80088261 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG02818.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0066 a0001c0001t0001g0150 |
3 | 350 | 0.0086 | 15 | c.*51 others(26): Show |
THBS4 | ENSG00000113296.14 | transcript | ENST00000350881.6 | protein_coding | 4975 | chr5 | TogoVar | |||||||
THEGL_chr4_56525606_56608507 | 56600097 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0181 | 1 | 167 | 0.0060 | 15 | c.110 others(32): Show |
THEGL | ENSG00000249693.3 | transcript | ENST00000512175.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |