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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STOML3_chr13_38960925_38995831 | 38988564 | A | ATATATTA others(32): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319 | 1 | 386 | 0.0026 | 39 | c.52+ others(54): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STPG2_chr4_97553872_98148476 | 98066013 | G | GATATACC others(32): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0106 | 1 | 264 | 0.0038 | 39 | c.612 others(58): Show |
STPG2 | ENSG00000163116.10 | transcript | ENST00000295268.4 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
STS_chrX_7142712_7359641 | 7320059 | A | ATATTTAT others(32): Show |
intron_variant | MODIFIER | HG02257.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0006 a0002c0002t0013g0096 |
2 | 229 | 0.0087 | 39 | c.108 others(58): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130818185 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0054 | 1 | 213 | 0.0047 | 39 | c.205 others(56): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023050 | C | CTCTCTCT others(32): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0084 | 1 | 258 | 0.0039 | 39 | c.-37 others(48): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 181 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023068 | C | CTCTCTCT others(32): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0295 | 1 | 263 | 0.0038 | 39 | c.-39 others(48): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 199 | chr1 | TogoVar | |||||||
STX6_chr1_180967725_181027870 | 181023077 | C | CTCTCTCT others(32): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0305 | 1 | 276 | 0.0036 | 39 | c.-40 others(48): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 208 | chr1 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429903 | T | TATATATT others(32): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 143 | 0.0070 | 39 | c.542 others(58): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9429903 | T | TCTATATT others(32): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 143 | 0.0070 | 39 | c.542 others(58): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
STXBP5L_chr3_120903205_121429761 | 121218306 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 288 | 0.0035 | 39 | c.957 others(56): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102504879 | G | GTCTCCTT others(32): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 | 1 | 266 | 0.0038 | 39 | c.182 others(54): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637505 | A | AATATATA others(32): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0123 others(2): Show |
5 | 265 | 0.0189 | 39 | c.*73 others(50): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3971 | chr10 | TogoVar | |||||||
SUGCT_chr7_40130005_40865763 | 40245423 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 5 | 0.2000 | 39 | c.576 others(56): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SULT4A1_chr22_43819509_43867513 | 43822789 | T | TGTGTGTG others(32): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0119 | 1 | 384 | 0.0026 | 39 | c.*32 others(50): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 1719 | chr22 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 866712 | G | GCCCCCAC others(32): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG02896.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0259 |
4 | 80 | 0.0500 | 39 | c.198 others(56): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 214 | 0.0047 | 39 | c.-14 others(50): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45230687 | T | TATATATA others(32): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 262 | 0.0038 | 39 | c.102 others(60): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01081.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0189 a0001c0003t0001g0188 |
2 | 4 | 0.5000 | 39 | c.-32 others(56): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUSD5_chr3_33145043_33223810 | 33183930 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0146 | 1 | 28 | 0.0357 | 39 | c.410 others(56): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91125781 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03139.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0022 a0001c0001t0002g0015 a0001c0001t0012g0018 others(1): Show |
4 | 136 | 0.0294 | 39 | c.-39 others(60): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138641814 | T | TTATATAT others(32): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0337 | 1 | 72 | 0.0139 | 39 | c.789 others(56): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SYCE1L_chr16_77194408_77218215 | 77202917 | T | TTCATGTG others(32): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00621.hp2 others(69): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 others(21): Show |
72 | 440 | 0.1636 | 39 | c.61+ others(54): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10911894 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 24 | 0.0417 | 39 | c.919 others(54): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01943.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 121 | 0.0165 | 39 | c.236 others(54): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA19007.hp1 NA19010.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0219 |
3 | 122 | 0.0246 | 39 | c.236 others(54): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG01517.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 2 | 121 | 0.0165 | 39 | c.236 others(54): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0216 |
2 | 121 | 0.0165 | 39 | c.236 others(54): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32572255 | T | TTCCTTCC others(32): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02717.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0010a0001c0001t0021a0001c0001t0033others(4): Show | a0001c0001t0010g0087 a0001c0001t0021g0149 a0001c0001t0033g0148 others(4): Show |
7 | 168 | 0.0417 | 39 | c.774 others(58): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152536398 | A | ATATTACT others(32): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(40): Show |
a0001a0002a0004others(31): Show | a0001c0150a0002c0056a0002c0057others(39): Show | a0001c0150t0006a0002c0056t0005a0002c0057t0009others(39): Show | a0001c0150t0006g0125 a0002c0056t0005g0102 a0002c0057t0009g0134 others(40): Show |
43 | 166 | 0.2590 | 39 | c.129 others(56): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 4/145 | chr6 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0008 | a0008c0011 | a0008c0011t0004 | a0008c0011t0004g0010 | 1 | 59 | 0.0169 | 39 | c.-64 others(48): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02258.hp2 HG02486.hp2 others(3): Show |
a0002a0003a0005others(1): Show | a0002c0005a0003c0003a0005c0006others(1): Show | a0002c0005t0007a0003c0003t0003a0005c0006t0004others(1): Show | a0002c0005t0007g0009 a0003c0003t0003g0068 a0005c0006t0004g0031 others(2): Show |
6 | 64 | 0.0938 | 39 | c.-64 others(48): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02071.hp1 NA18947.hp1 others(2): Show |
a0003a0006a0014 | a0003c0003a0006c0044a0014c0013 | a0003c0003t0003a0003c0003t0012a0006c0044t0002others(1): Show | a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0012g0003 others(2): Show |
5 | 63 | 0.0794 | 39 | c.-64 others(48): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01943.hp2 HG02040.hp1 others(4): Show |
a0003a0004a0008 | a0003c0003a0004c0004a0008c0011 | a0003c0003t0003a0003c0003t0012a0004c0004t0005others(2): Show | a0003c0003t0003g0078 a0003c0003t0003g0194 a0003c0003t0012g0003 others(4): Show |
7 | 65 | 0.1077 | 39 | c.-64 others(48): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG04228.hp2 |
a0003a0029 | a0003c0003a0029c0050 | a0003c0003t0003a0029c0050t0004 | a0003c0003t0003g0084 a0029c0050t0004g0191 |
2 | 60 | 0.0333 | 39 | c.-64 others(48): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
TACR1_chr2_75041463_75204520 | 75094859 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0121 | 1 | 133 | 0.0075 | 39 | c.584 others(58): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
TACR1_chr2_75041463_75204520 | 75094859 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 133 | 0.0075 | 39 | c.584 others(58): Show |
TACR1 | ENSG00000115353.11 | transcript | ENST00000305249.10 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48582365 | T | TACCACAC others(32): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0157 a0001c0001t0002g0017 a0001c0001t0002g0191 others(2): Show |
5 | 256 | 0.0195 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623208 | C | CGTGGCCC others(32): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01943.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0047 a0001c0001t0002g0053 others(9): Show |
12 | 256 | 0.0469 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623244 | C | CCGCGTGG others(32): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0094 a0001c0001t0001g0101 others(4): Show |
7 | 238 | 0.0294 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623244 | C | CCGCGTGG others(32): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0157 a0001c0001t0002g0017 a0001c0001t0002g0200 others(2): Show |
5 | 236 | 0.0212 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623285 | G | GCGTGGCC others(32): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 256 | 0.0039 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623337 | T | TGGTGACC others(32): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02976.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0010 a0001c0001t0002g0238 a0001c0001t0007g0050 |
3 | 38 | 0.0789 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623396 | C | CGTGTCGC others(32): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0012 a0001c0001t0001g0059 a0001c0001t0001g0067 others(103): Show |
106 | 142 | 0.7465 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623410 | C | CTGCGCGG others(32): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01099.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0108 a0001c0001t0001g0112 others(8): Show |
11 | 256 | 0.0430 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623442 | C | CGTGGCCC others(32): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 255 | 0.0039 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623447 | C | CCCTGCGC others(32): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0004 a0001c0001t0002g0024 a0001c0001t0009g0152 others(1): Show |
4 | 208 | 0.0192 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48623452 | C | CGCGGTGA others(32): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 a0001c0001t0002g0200 |
2 | 211 | 0.0095 | 39 | c.113 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735906 | C | CAGAGTCC others(32): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 256 | 0.0039 | 39 | c.391 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48735984 | G | GCACTCCT others(32): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0169 | 1 | 158 | 0.0063 | 39 | c.391 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48736261 | G | GCAGGAGG others(32): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0175 others(2): Show |
5 | 118 | 0.0424 | 39 | c.391 others(58): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |