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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUPT3H_chr6_44821726_45382934 | 45158298 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01074.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0053 a0001c0001t0004g0167 a0001c0001t0004g0169 others(16): Show |
19 | 83 | 0.2289 | -5 | c.102 others(24): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45174733 | CTAAAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02602.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0056 others(1): Show |
4 | 260 | 0.0154 | -5 | c.102 others(24): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45175012 | TAAAAA | T | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 a0001c0001t0008g0085 a0001c0001t0008g0086 others(2): Show |
5 | 130 | 0.0385 | -5 | c.102 others(24): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45280832 | TATAAC | T | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp1 HG01255.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0017 a0001c0001t0002g0036 a0001c0001t0002g0037 others(48): Show |
51 | 262 | 0.1947 | -5 | c.101 others(24): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45294733 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 others(72): Show |
75 | 98 | 0.7653 | -5 | c.101 others(24): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT5H_chr19_39440582_39481670 | 39454353 | GTTGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0018 others(77): Show |
98 | 244 | 0.4016 | -5 | c.241 others(20): Show |
SUPT5H | ENSG00000196235.14 | transcript | ENST00000432763.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SUPT6H_chr17_28657205_28707679 | 28706934 | GGGCTA | G | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02559.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0087 a0001c0001t0003g0043 others(4): Show |
7 | 234 | 0.0299 | -5 | c.*53 others(16): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 4256 | chr17 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69184674 | TATTTA | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0009a0002c0003 | a0001c0009t0001a0002c0003t0001 | a0001c0009t0001g0238 a0001c0009t0001g0239 a0002c0003t0001g0013 others(5): Show |
13 | 352 | 0.0369 | -5 | c.272 others(22): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUPV3L1_chr10_69175234_69214093 | 69213380 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01257.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(22): Show |
27 | 352 | 0.0767 | -5 | c.*43 others(16): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4288 | chr10 | TogoVar | |||||||
SURF4_chr9_133356464_133381060 | 133373909 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0025 | a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0018g0030 others(1): Show |
7 | 168 | 0.0417 | -5 | c.48+ others(20): Show |
SURF4 | ENSG00000148248.14 | transcript | ENST00000371989.8 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112077499 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0131 a0001c0001t0001g0147 others(15): Show |
18 | 233 | 0.0773 | -5 | c.175 others(24): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 12/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112108822 | AAAGAG | A | intron_variant | MODIFIER | HG00438.hp1 HG01257.hp1 HG01358.hp2 others(17): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0257 others(17): Show |
20 | 336 | 0.0595 | -5 | c.117 others(24): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 8/16 | chr9 | TogoVar | |||||||
SUSD3_chr9_93053701_93090133 | 93055322 | GTTTTT | G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02523.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0154 a0002c0002t0001g0007 a0002c0002t0001g0008 others(8): Show |
12 | 117 | 0.1026 | -5 | c.-34 others(16): Show |
SUSD3 | ENSG00000157303.11 | transcript | ENST00000375472.8 | protein_coding | 3378 | chr9 | TogoVar | |||||||
SUSD4_chr1_223215831_223369176 | 223239772 | ATTGTT | A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0145 others(7): Show |
10 | 274 | 0.0365 | -5 | c.725 others(24): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SUSD4_chr1_223215831_223369176 | 223365593 | GTTATT | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02818.hp1 HG03041.hp1 others(5): Show |
a0003 | a0003c0004a0003c0016 | a0003c0004t0001a0003c0016t0001 | a0003c0004t0001g0167 a0003c0004t0001g0169 a0003c0004t0001g0170 others(5): Show |
8 | 274 | 0.0292 | -5 | c.-15 others(16): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 1418 | chr1 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33148356 | TAGGTC | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02647.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0003a0003c0003t0004a0004c0005t0004others(1): Show | a0001c0001t0003g0286 a0001c0001t0003g0368 a0001c0001t0003g0374 others(6): Show |
10 | 402 | 0.0249 | -5 | c.*43 others(16): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 1686 | chr3 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33149542 | TAGGGA | T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG01109.hp2 others(9): Show |
a0001a0011 | a0001c0001a0011c0023 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0215 a0001c0001t0007g0016 a0001c0001t0007g0017 others(9): Show |
12 | 391 | 0.0307 | -5 | c.*31 others(16): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 500 | chr3 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33149546 | GAGGGA | G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 others(5): Show |
8 | 401 | 0.0200 | -5 | c.*31 others(16): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 496 | chr3 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33183930 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0022 others(122): Show |
127 | 154 | 0.8247 | -5 | c.410 others(22): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33204627 | ATTTTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 others(152): Show |
158 | 190 | 0.8316 | -5 | c.409 others(22): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
SUSD6_chr14_69606596_69720144 | 69667370 | CTTTTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0003 | a0001c0001t0004g0010 a0001c0001t0005g0260 a0001c0001t0005g0261 others(4): Show |
7 | 13 | 0.5385 | -5 | c.121 others(22): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUSD6_chr14_69606596_69720144 | 69706106 | CTTTCT | C | intron_variant | MODIFIER | HG01175.hp2 HG02896.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0277 a0001c0001t0008g0278 a0001c0001t0008g0279 others(2): Show |
5 | 286 | 0.0175 | -5 | c.458 others(22): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUSD6_chr14_69606596_69720144 | 69706328 | TGAGTA | T | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00642.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0032a0001c0002t0034 | a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 others(30): Show |
33 | 286 | 0.1154 | -5 | c.458 others(22): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SUV39H2_chr10_14873866_14909315 | 14898202 | CTTTTT | C | intron_variant | MODIFIER | HG01255.hp2 HG04184.hp2 NA18747.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0053 a0001c0001t0003g0237 a0001c0001t0003g0238 others(3): Show |
7 | 304 | 0.0230 | -5 | c.849 others(20): Show |
SUV39H2 | ENSG00000152455.16 | transcript | ENST00000354919.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUZ12_chr17_31932007_32006038 | 31949017 | TTTCTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01070.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(1): Show | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(14): Show |
17 | 278 | 0.0612 | -5 | c.455 others(22): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SUZ12_chr17_31932007_32006038 | 31949673 | CCCCTT | C | intron_variant | MODIFIER | HG00438.hp1 HG02630.hp2 HG02895.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 others(11): Show |
14 | 246 | 0.0569 | -5 | c.455 others(22): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SUZ12_chr17_31932007_32006038 | 31976461 | TATATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01070.hp1 others(17): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 others(17): Show |
20 | 278 | 0.0719 | -5 | c.824 others(18): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUZ12_chr17_31932007_32006038 | 31979103 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(6): Show |
9 | 163 | 0.0552 | -5 | c.917 others(22): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUZ12_chr17_31932007_32006038 | 31995301 | CTTCAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 others(1): Show |
4 | 278 | 0.0144 | -5 | c.159 others(22): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SV2A_chr1_149898318_149922844 | 149921236 | TCCTTG | T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 |
3 | 362 | 0.0083 | -5 | c.-38 others(16): Show |
SV2A | ENSG00000159164.10 | transcript | ENST00000369146.8 | protein_coding | 3393 | chr1 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91110930 | TAAGGC | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0066others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0076 others(10): Show |
13 | 212 | 0.0613 | -5 | c.-39 others(26): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91158633 | CCTCTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02071.hp2 HG02451.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(7): Show | a0001c0001t0001g0108 a0001c0001t0003g0043 a0001c0001t0003g0118 others(10): Show |
13 | 148 | 0.0878 | -5 | c.-39 others(26): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91162514 | CATAAG | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00639.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0076 others(33): Show |
36 | 212 | 0.1698 | -5 | c.-39 others(26): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91197550 | AAAACC | A | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0070a0001c0002t0069a0001c0006t0006 | a0001c0001t0070g0134 a0001c0002t0069g0117 a0001c0006t0006g0127 others(1): Show |
4 | 212 | 0.0189 | -5 | c.-39 others(26): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91230257 | AAAAAG | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0005a0001c0001t0046a0001c0005t0002others(8): Show | a0001c0001t0005g0034 a0001c0001t0046g0128 a0001c0005t0002g0104 others(11): Show |
14 | 212 | 0.0660 | -5 | c.451 others(22): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91272828 | CTTTTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG01358.hp1 others(15): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0004a0001c0003t0038a0001c0003t0039others(6): Show | a0001c0003t0004g0010 a0001c0003t0004g0012 a0001c0003t0004g0023 others(15): Show |
18 | 103 | 0.1748 | -5 | c.137 others(24): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76130145 | TAAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG02080.hp2 HG02083.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(17): Show | a0001c0001t0001g0031 a0001c0001t0002g0094 a0001c0001t0012g0083 others(18): Show |
21 | 44 | 0.4773 | -5 | c.-10 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76156818 | CAAAAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0046a0001c0001t0088a0002c0003t0119 | a0001c0001t0046g0048 a0001c0001t0088g0123 a0002c0003t0119g0172 |
3 | 232 | 0.0129 | -5 | c.580 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76172299 | GTCAGC | G | intron_variant | MODIFIER | HG02056.hp1 NA18960.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0018a0003c0004t0005 | a0001c0001t0018g0067 a0003c0004t0005g0163 |
2 | 232 | 0.0086 | -5 | c.581 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76227166 | CAGATA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(97): Show | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0054 others(120): Show |
123 | 232 | 0.5302 | -5 | c.913 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76243012 | TAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01256.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0043a0001c0001t0046a0001c0002t0096others(3): Show | a0001c0001t0043g0028 a0001c0001t0046g0048 a0001c0002t0096g0112 others(4): Show |
7 | 36 | 0.1944 | -5 | c.913 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76263279 | TTTTTG | T | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01255.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(24): Show | a0001c0001t0002g0094 a0001c0001t0002g0224 a0001c0001t0004g0219 others(26): Show |
29 | 232 | 0.1250 | -5 | c.914 others(24): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVBP_chr1_42802052_42822397 | 42804067 | GTTGTT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0019 others(28): Show |
74 | 391 | 0.1893 | -5 | c.*33 others(16): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2984 | chr1 | TogoVar | |||||||
SVBP_chr1_42802052_42822397 | 42815654 | CTAAAT | C | intron_variant | MODIFIER | HG01167.hp2 HG02970.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0002g0042 a0001c0001t0002g0139 others(1): Show |
5 | 392 | 0.0128 | -5 | c.114 others(20): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110374653 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(90): Show |
a0001a0002a0004others(45): Show | a0001c0002a0001c0061a0001c0123others(56): Show | a0001c0002t0004a0001c0061t0011a0001c0123t0004others(60): Show | a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0002t0004g0211 others(89): Show |
93 | 360 | 0.2583 | -5 | c.106 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 46/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110378106 | TATCTA | T | intron_variant | MODIFIER | HG01978.hp2 HG02004.hp1 HG02273.hp2 others(5): Show |
a0018a0079a0085others(1): Show | a0018c0017a0018c0064a0079c0085others(2): Show | a0018c0017t0001a0018c0064t0001a0079c0085t0001others(2): Show | a0018c0017t0001g0109 a0018c0017t0001g0233 a0018c0017t0001g0286 others(5): Show |
8 | 360 | 0.0222 | -5 | c.104 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 44/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110419673 | GCACCA | G | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02723.hp2 others(2): Show |
a0051a0083a0084others(1): Show | a0051c0128a0051c0152a0083c0098others(2): Show | a0051c0128t0001a0051c0152t0001a0083c0098t0001others(2): Show | a0051c0128t0001g0036 a0051c0152t0001g0357 a0083c0098t0001g0098 others(2): Show |
5 | 360 | 0.0139 | -5 | c.597 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 36/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110429472 | TTTAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp1 others(44): Show |
a0001a0012a0014others(14): Show | a0001c0002a0001c0053a0001c0061others(26): Show | a0001c0002t0001a0001c0002t0004a0001c0053t0001others(29): Show | a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0119 others(43): Show |
47 | 360 | 0.1306 | -5 | c.561 others(22): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 34/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110438177 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01516.hp2 others(9): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0123a0002c0001others(6): Show | a0001c0002t0004a0001c0123t0004a0002c0001t0004others(6): Show | a0001c0002t0004g0160 a0001c0002t0004g0161 a0001c0123t0004g0021 others(9): Show |
12 | 84 | 0.1429 | -5 | c.464 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 27/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110501098 | TTAATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
a0045a0052 | a0045c0058a0052c0142a0052c0166 | a0045c0058t0001a0045c0058t0013a0052c0142t0002others(1): Show | a0045c0058t0001g0207 a0045c0058t0013g0131 a0052c0142t0002g0082 others(1): Show |
4 | 360 | 0.0111 | -5 | c.148 others(24): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 6/47 | chr9 | TogoVar |