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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD1_chr2_88062825_88118384 | 88065219 | T | TCCCCTCC others(6): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0243 | 1 | 307 | 0.0033 | 13 | c.-26 others(24): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2605 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065222 | C | CCTCCCCC others(6): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 284 | 0.0035 | 13 | c.-26 others(24): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2602 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065254 | T | TCCCTCCC others(6): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0013 | 1 | 142 | 0.0070 | 13 | c.-26 others(24): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2570 | chr2 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214281583 | G | GGCCCCGC others(6): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 378 | 0.0026 | 13 | c.173 others(28): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246245120 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 45 | 0.0222 | 13 | c.531 others(32): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1789764 | C | CCAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(68): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0027a0002c0002others(13): Show | a0001c0001t0035a0001c0027t0002a0002c0002t0002others(18): Show | a0001c0001t0035g0234 a0001c0027t0002g0258 a0002c0002t0002g0009 others(65): Show |
71 | 259 | 0.2741 | 13 | c.153 others(32): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 |
a0011 | a0011c0013 | a0011c0013t0012 | a0011c0013t0012g0024 a0011c0013t0012g0061 |
2 | 80 | 0.0250 | 13 | c.153 others(32): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18984.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0047 a0003c0003t0004g0048 |
2 | 80 | 0.0250 | 13 | c.153 others(32): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 |
a0003a0012 | a0003c0003a0012c0012 | a0003c0003t0004a0012c0012t0007 | a0003c0003t0004g0037 a0012c0012t0007g0056 |
2 | 80 | 0.0250 | 13 | c.153 others(32): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795747 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0267 | 1 | 138 | 0.0072 | 13 | c.153 others(32): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02083.hp1 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 |
9 | 49 | 0.1837 | 13 | c.*36 others(24): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88682762 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02895.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0023 a0001c0001t0003g0102 a0001c0001t0011g0248 |
4 | 51 | 0.0784 | 13 | c.77- others(28): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10224257 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 |
3 | 68 | 0.0441 | 13 | c.-64 others(30): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20871482 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 258 | 0.0039 | 13 | c.434 others(28): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61762981 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 33 | 0.0303 | 13 | c.128 others(28): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61797175 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01255.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0026 | a0001c0001t0004g0060 a0001c0001t0009g0033 a0001c0001t0026g0050 |
3 | 180 | 0.0167 | 13 | c.*21 others(24): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 748 | chr14 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15441378 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 a0001c0001t0005g0191 a0001c0001t0005g0192 others(1): Show |
4 | 293 | 0.0137 | 13 | c.478 others(30): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(8): Show |
11 | 34 | 0.3235 | 13 | c.-47 others(32): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122359349 | T | TTTTTATT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 45 | 0.0222 | 13 | c.-46 others(32): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89786559 | G | GCTTAATA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0319 | 1 | 338 | 0.0030 | 13 | c.306 others(32): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127766771 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02165.hp1 NA19080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0244 a0001c0002t0001g0227 |
2 | 12 | 0.1667 | 13 | c.115 others(34): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTGTTTT others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 116 | 0.0086 | 13 | c.152 others(32): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0137 |
2 | 117 | 0.0171 | 13 | c.152 others(32): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 116 | 0.0086 | 13 | c.152 others(32): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241026009 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp1 HG03654.hp2 NA18747.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0018a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0167 a0001c0001t0002g0018 a0001c0001t0005g0019 others(4): Show |
7 | 59 | 0.1186 | 13 | c.214 others(30): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNORC_chr2_232865264_232883700 | 232872128 | G | GGGAGGCT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp2 others(76): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0034 others(16): Show |
79 | 449 | 0.1759 | 13 | c.73+ others(28): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232872128 | G | GGGAGGCT others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0039 | 1 | 371 | 0.0027 | 13 | c.73+ others(28): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
SNORC_chr2_232865264_232883700 | 232873037 | A | AGCCTGTG others(6): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0056 | 1 | 450 | 0.0022 | 13 | c.73+ others(28): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNORC_chr2_232865264_232883700 | 232878157 | A | AGCAACGA others(6): Show |
3_prime_UTR_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0057 | 1 | 450 | 0.0022 | 13 | c.*18 others(24): Show |
SNORC | ENSG00000182600.10 | transcript | ENST00000331342.5 | protein_coding | 3/3 | 1802 | chr2 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1279615 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 331 | 0.0030 | 13 | c.-49 others(34): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43322951 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0013 | 2 | 8 | 0.2500 | 13 | c.590 others(30): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 52765 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 307 | 0.0065 | 13 | c.-12 others(24): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1062 | chr16 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49083785 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 274 | 0.0036 | 13 | c.-18 others(24): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 1665 | chr19 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49083789 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 a0001c0001t0001g0144 |
2 | 191 | 0.0105 | 13 | c.-18 others(24): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 1661 | chr19 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101289925 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01433.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 others(10): Show |
25 | 205 | 0.1220 | 13 | c.309 others(30): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
SNRPA1_chr15_101276510_101300248 | 101296655 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 107 | 0.0093 | 13 | c.-14 others(24): Show |
SNRPA1 | ENSG00000131876.18 | transcript | ENST00000254193.11 | protein_coding | 1408 | chr15 | TogoVar | |||||||
SNRPA_chr19_40746203_40770389 | 40753384 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 77 | 0.0130 | 13 | c.73+ others(28): Show |
SNRPA | ENSG00000077312.9 | transcript | ENST00000243563.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNRPD1_chr18_21607314_21638520 | 21625315 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0227 | 1 | 322 | 0.0031 | 13 | c.283 others(30): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21625316 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0026 others(39): Show |
48 | 175 | 0.2743 | 13 | c.283 others(30): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SNRPG_chr2_70276362_70298740 | 70283096 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG02135.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0192 a0001c0001t0001g0203 others(4): Show |
7 | 251 | 0.0279 | 13 | c.181 others(30): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
SNRPG_chr2_70276362_70298740 | 70283122 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 213 | 0.0047 | 13 | c.181 others(30): Show |
SNRPG | ENSG00000143977.14 | transcript | ENST00000272348.7 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120654039 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 34 | 0.0294 | 13 | c.789 others(32): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0026 | 1 | 124 | 0.0081 | 13 | c.580 others(32): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69232502 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01517.hp2 NA18964.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0202 a0001c0002t0012g0205 |
2 | 117 | 0.0171 | 13 | c.581 others(32): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69279515 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 NA18968.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0028 | a0001c0002t0004g0029 a0001c0002t0004g0033 a0001c0002t0004g0037 others(1): Show |
4 | 91 | 0.0440 | 13 | c.114 others(32): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69310070 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0114 a0001c0001t0010g0111 |
2 | 20 | 0.1000 | 13 | c.*91 others(24): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1019 | chr16 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50422270 | A | ATCTATCT others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03017.hp1 HG03041.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0017others(4): Show | a0001c0001t0002g0042 a0001c0001t0007g0006 a0001c0001t0017g0057 others(4): Show |
7 | 9 | 0.7778 | 13 | c.163 others(32): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 50484086 | T | TTCTCTCT others(6): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 1 | 106 | 0.0094 | 13 | c.364 others(32): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50601152 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02300.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0003g0020 a0001c0001t0009g0100 a0001c0001t0013g0009 others(6): Show |
9 | 11 | 0.8182 | 13 | c.849 others(32): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965552 | C | CTGGTCCT others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG03453.hp2 |
a0001a0003a0006 | a0001c0002a0003c0008a0006c0010 | a0001c0002t0001a0003c0008t0001a0006c0010t0001 | a0001c0002t0001g0041 a0003c0008t0001g0044 a0006c0010t0001g0043 |
3 | 188 | 0.0160 | 13 | c.72+ others(30): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |