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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SESN3_chr11_95160513_95236202 | 95231155 | G | GCCGCCAC others(8): Show |
5_prime_UTR_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0158 | 1 | 390 | 0.0026 | 15 | c.-31 others(24): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 1/10 | 296 | chr11 | TogoVar | ||||||
SESTD1_chr2_179096678_179269832 | 179230113 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18980.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0011 | a0001c0001t0001g0241 a0001c0003t0011g0151 |
2 | 23 | 0.0870 | 15 | c.-26 others(34): Show |
SESTD1 | ENSG00000187231.14 | transcript | ENST00000428443.8 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44679873 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0137 others(5): Show |
8 | 37 | 0.2162 | 15 | c.-13 others(26): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 1014 | chr18 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44703348 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0006 | a0006c0007 | a0006c0007t0023 | a0006c0007t0023g0062 | 1 | 38 | 0.0263 | 15 | c.486 others(32): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44885842 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18981.hp1 NA19043.hp2 others(1): Show |
a0001a0002a0011 | a0001c0001a0002c0002a0011c0011 | a0001c0001t0002a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0002g0102 a0002c0002t0001g0123 a0002c0002t0005g0107 others(1): Show |
4 | 81 | 0.0494 | 15 | c.540 others(34): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44989868 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 | 1 | 113 | 0.0088 | 15 | c.400 others(36): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETD1B_chr12_121799009_121837656 | 121799726 | G | GGGGGGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG02698.hp2 HG03486.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0002t0001a0002c0006t0001 | a0001c0001t0002g0121 a0001c0002t0001g0001 a0002c0006t0001g0104 |
3 | 247 | 0.0121 | 15 | c.-45 others(26): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 4282 | chr12 | TogoVar | |||||||
SETD1B_chr12_121799009_121837656 | 121799727 | G | GGGGGGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG02071.hp1 others(5): Show |
a0001a0014 | a0001c0001a0001c0002a0001c0041others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0041t0002others(1): Show | a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0002t0001g0001 others(5): Show |
8 | 164 | 0.0488 | 15 | c.-45 others(26): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 4281 | chr12 | TogoVar | |||||||
SETD1B_chr12_121799009_121837656 | 121799727 | G | GGGGGTGG others(8): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01243.hp1 HG01361.hp2 others(5): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0021others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0007others(3): Show | a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 others(5): Show |
8 | 164 | 0.0488 | 15 | c.-45 others(26): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 4281 | chr12 | TogoVar | |||||||
SETD1B_chr12_121799009_121837656 | 121799731 | T | TGGGGGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 HG02572.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0007 a0001c0001t0002g0122 a0001c0002t0001g0187 |
3 | 73 | 0.0411 | 15 | c.-45 others(26): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 4277 | chr12 | TogoVar | |||||||
SETD1B_chr12_121799009_121837656 | 121835028 | T | TTTCTTTC others(8): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 NA20129.hp1 |
a0003a0007 | a0003c0023a0007c0017 | a0003c0023t0008a0007c0017t0005 | a0003c0023t0008g0149 a0007c0017t0005g0025 |
2 | 240 | 0.0083 | 15 | c.*47 others(26): Show |
SETD1B | ENSG00000139718.12 | transcript | ENST00000604567.6 | protein_coding | 2373 | chr12 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47036905 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02071.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0005a0002c0001a0004c0004others(2): Show | a0001c0005t0001a0001c0005t0004a0002c0001t0001others(3): Show | a0001c0005t0001g0306 a0001c0005t0004g0262 a0001c0005t0004g0303 others(6): Show |
9 | 118 | 0.0763 | 15 | c.735 others(32): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 18/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47044344 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0133 | 1 | 21 | 0.0476 | 15 | c.709 others(34): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | |||||||
SETD2_chr3_47011436_47169113 | 47058440 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02717.hp2 others(2): Show |
a0004a0005 | a0004c0004a0005c0007 | a0004c0004t0001a0005c0007t0001 | a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0141 others(2): Show |
5 | 108 | 0.0463 | 15 | c.629 others(32): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 14/20 | chr3 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99394321 | C | CCACGTGC others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(122): Show |
130 | 288 | 0.4514 | 15 | c.*43 others(26): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 3426 | chr14 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99403489 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 283 | 0.0035 | 15 | c.117 others(32): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
SETD3_chr14_99392748_99485859 | 99423588 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0146 |
2 | 26 | 0.0769 | 15 | c.676 others(32): Show |
SETD3 | ENSG00000183576.13 | transcript | ENST00000331768.10 | protein_coding | 6/12 | chr14 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9406607 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0206 | 1 | 152 | 0.0066 | 15 | c.-17 others(34): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9426212 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18998.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0019 | a0001c0001t0002g0069 a0004c0004t0019g0059 |
2 | 17 | 0.1176 | 15 | c.-11 others(34): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
SETD5_chr3_9392615_9483154 | 9445965 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0193 | 1 | 147 | 0.0068 | 15 | c.152 others(32): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD5_chr3_9392615_9483154 | 9445968 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0199 | 1 | 238 | 0.0042 | 15 | c.152 others(32): Show |
SETD5 | ENSG00000168137.20 | transcript | ENST00000402198.7 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58516124 | T | TAGGGCGG others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0025 | 2 | 243 | 0.0082 | 15 | c.334 others(28): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
SETD6_chr16_58510517_58528842 | 58516124 | T | TGGGGCGG others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00738.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0001g0021 a0001c0001t0009g0008 a0001c0001t0011g0008 others(6): Show |
15 | 256 | 0.0586 | 15 | c.334 others(28): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SETD6_chr16_58510517_58528842 | 58516148 | G | GCGGGGCG others(8): Show |
intron_variant | MODIFIER | HG02683.hp2 HG04204.hp1 NA18961.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0022 | a0001c0001t0008g0022 a0001c0003t0022g0022 |
3 | 293 | 0.0102 | 15 | c.335 others(28): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SETD7_chr4_139501038_139561219 | 139544290 | C | CTAAAATA others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0015a0001c0001t0020a0001c0001t0026others(3): Show | a0001c0001t0015g0211 a0001c0001t0015g0241 a0001c0001t0020g0021 others(4): Show |
7 | 150 | 0.0467 | 15 | c.170 others(32): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SETD9_chr5_56904596_56922348 | 56908069 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 | 1 | 86 | 0.0116 | 15 | c.-15 others(26): Show |
SETD9 | ENSG00000155542.12 | transcript | ENST00000285947.5 | protein_coding | 1526 | chr5 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150921524 | A | AAAAAAGA others(8): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG03017.hp1 HG03654.hp2 others(2): Show |
a0003a0008 | a0003c0003a0008c0012 | a0003c0003t0001a0008c0012t0001 | a0003c0003t0001g0017 a0003c0003t0001g0278 a0003c0003t0001g0284 others(1): Show |
5 | 69 | 0.0725 | 15 | c.-50 others(26): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 4838 | chr1 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150923910 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0191 |
2 | 12 | 0.1667 | 15 | c.-26 others(26): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 2452 | chr1 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150931261 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 121 | 0.0083 | 15 | c.412 others(32): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26318056 | C | CATTTTAT others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0004 | a0001c0001t0001g0128 a0001c0006t0004g0187 |
2 | 68 | 0.0294 | 15 | c.201 others(34): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26347199 | A | AATGATGA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01891.hp2 HG03041.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0003t0002a0003c0004t0031others(1): Show | a0001c0001t0002g0130 a0001c0003t0002g0064 a0003c0004t0031g0023 others(1): Show |
4 | 159 | 0.0252 | 15 | c.221 others(32): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAAAGA others(8): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0203 | 1 | 70 | 0.0143 | 15 | c.240 others(32): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348646 | A | AAGAGAAG others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0227 | 1 | 70 | 0.0143 | 15 | c.240 others(32): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26348699 | A | AAGGAAGA others(8): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 194 | 0.0052 | 15 | c.240 others(32): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26369341 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG04199.hp2 |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0002a0004c0013t0002 | a0001c0001t0002g0127 a0004c0013t0002g0006 |
2 | 86 | 0.0233 | 15 | c.279 others(34): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF3A3_chr1_37951975_37995022 | 37961759 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0311 | 1 | 17 | 0.0588 | 15 | c.137 others(34): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37983586 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0002g0166 others(5): Show |
8 | 9 | 0.8889 | 15 | c.468 others(30): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 6/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0002a0001c0007t0002 | a0001c0001t0001g0045 a0001c0002t0002g0126 a0001c0007t0002g0009 |
4 | 15 | 0.2667 | 15 | c.495 others(30): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70532357 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0020a0001c0001t0033others(3): Show | a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0039 others(13): Show |
18 | 115 | 0.1565 | 15 | c.571 others(30): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31513561 | C | CGTTTTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(94): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0006others(20): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(20): Show | a0001c0001t0001g0130 a0001c0001t0001g0183 a0002c0002t0001g0121 others(94): Show |
97 | 139 | 0.6978 | 15 | c.92+ others(30): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545574 | A | AATTTAAT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 a0002c0002t0003g0067 |
2 | 171 | 0.0117 | 15 | c.339 others(32): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545574 | A | AATTTTAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 | 1 | 170 | 0.0059 | 15 | c.339 others(32): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545584 | A | AATTTAAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0216 |
2 | 130 | 0.0154 | 15 | c.339 others(32): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31545584 | A | AATTTTAT others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02647.hp2 others(2): Show |
a0002a0011a0026 | a0002c0002a0002c0044a0011c0021others(1): Show | a0002c0002t0001a0002c0044t0003a0011c0021t0001others(1): Show | a0002c0002t0001g0027 a0002c0044t0003g0037 a0011c0021t0001g0035 others(2): Show |
5 | 133 | 0.0376 | 15 | c.339 others(32): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582202 | C | CTATATAT others(8): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 290 | 0.0034 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | chr22 | TogoVar | |||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0171 | 1 | 77 | 0.0130 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG02135.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0020a0005c0005 | a0001c0001t0001a0001c0020t0001a0005c0005t0001 | a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0248 others(5): Show |
8 | 84 | 0.0952 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01074.hp2 NA18941.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0266 a0001c0001t0001g0281 |
3 | 79 | 0.0380 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 77 | 0.0130 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582236 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0283 |
2 | 78 | 0.0256 | 15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |