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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SULF1_chr8_69487847_69665912 | 69617373 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG02083.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0066 a0001c0001t0002g0103 others(6): Show |
9 | 26 | 0.3462 | -18 | c.137 others(37): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47745394 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(1): Show |
4 | 344 | 0.0116 | -18 | c.176 others(35): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745400 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01358.hp1 NA18948.hp2 NA19070.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0001 | a0001c0001t0001g0187 a0001c0001t0005g0308 a0001c0004t0001g0098 |
3 | 353 | 0.0085 | -18 | c.176 others(35): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745404 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 349 | 0.0029 | -18 | c.176 others(35): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47785435 | GCGCCGCC others(11): Show |
G | 5_prime_UTR_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0007 | 1 | 359 | 0.0028 | -18 | c.-21 others(27): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 1/21 | 28073 | chr20 | TogoVar | ||||||
SULT1A1_chr16_28600258_28615044 | 28603092 | TTTATTAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG03453.hp1 HG03654.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0002a0001c0005t0004a0002c0002t0003others(1): Show | a0001c0001t0002g0007 a0001c0005t0004g0031 a0002c0002t0003g0001 others(1): Show |
4 | 106 | 0.0377 | -18 | c.*27 others(29): Show |
SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 2165 | chr16 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69726033 | CATATATA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01943.hp2 HG02572.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0016 | a0001c0001t0012g0190 a0001c0001t0016g0025 |
3 | 114 | 0.0263 | -18 | c.*10 others(29): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 8/8 | 1037 | chr4 | TogoVar | ||||||
SULT1C2_chr2_108283895_108314915 | 108292393 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 41 | 0.0244 | -18 | c.-21 others(35): Show |
SULT1C2 | ENSG00000198203.10 | transcript | ENST00000251481.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SULT2A1_chr19_47865467_47891315 | 47880562 | CATTATTA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02258.hp2 others(2): Show |
a0003a0005 | a0003c0004a0003c0006a0005c0005 | a0003c0004t0008a0003c0006t0008a0005c0005t0002 | a0003c0004t0008g0177 a0003c0004t0008g0179 a0003c0004t0008g0181 others(2): Show |
5 | 11 | 0.4545 | -18 | c.473 others(35): Show |
SULT2A1 | ENSG00000105398.4 | transcript | ENST00000222002.4 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48569361 | AACATATA others(11): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02647.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0075 others(11): Show |
14 | 154 | 0.0909 | -18 | c.72- others(33): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48596853 | ATGTCCAA others(11): Show |
A | conservative_inframe_deletion | MODERATE | NA19058.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0351 | 1 | 374 | 0.0027 | -18 | c.763 others(25): Show |
p.Ser others(13): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 6/7 | 844/1196 | 763/1098 | 255/365 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SULT2B1_chr19_48547172_48604423 | 48602704 | AATATATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01515.hp2 others(21): Show |
a0001a0006a0009 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0024 others(21): Show |
24 | 203 | 0.1182 | -18 | c.*32 others(29): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3282 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48602776 | GATGTCAC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0106 | 1 | 374 | 0.0027 | -18 | c.*33 others(29): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3354 | chr19 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48602825 | TTTATTAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01884.hp1 HG02717.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0011a0003c0012 | a0001c0001t0001a0003c0011t0001a0003c0012t0001 | a0001c0001t0001g0252 a0003c0011t0001g0060 a0003c0012t0001g0013 others(1): Show |
4 | 87 | 0.0460 | -18 | c.*34 others(29): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 3403 | chr19 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43821598 | TGCAGCCT others(11): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 384 | 0.0026 | -18 | c.*43 others(29): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 2910 | chr22 | TogoVar | |||||||
SULT6B1_chr2_37162820_37193670 | 37193579 | GAAAAAGA others(11): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 NA19068.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 a0002c0002t0001g0162 |
2 | 342 | 0.0058 | -18 | c.-49 others(29): Show |
SULT6B1 | ENSG00000138068.12 | transcript | ENST00000535679.6 | protein_coding | 4910 | chr2 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4456714 | ATACATAT others(11): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0004g0304 others(1): Show |
4 | 390 | 0.0103 | -18 | c.271 others(35): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4460441 | AGAGCTCA others(11): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 390 | 0.0026 | -18 | c.270 others(35): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMO2_chr17_75160586_75187959 | 75162278 | CATATATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 18 | 0.0556 | -18 | c.*60 others(29): Show |
SUMO2 | ENSG00000188612.12 | transcript | ENST00000420826.7 | protein_coding | 3307 | chr17 | TogoVar | |||||||
SUMO4_chr6_149395262_149406278 | 149403271 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG00735.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0005g0000 |
42 | 366 | 0.1148 | -18 | c.*25 others(29): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1994 | chr6 | TogoVar | |||||||
SUMO4_chr6_149395262_149406278 | 149403295 | CATATATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 18 | 141 | 0.1277 | -18 | c.*26 others(29): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 2018 | chr6 | TogoVar | |||||||
SUPT20HL1_chrX_24355639_24372839 | 24364308 | TGCTCCTG others(11): Show |
T | conservative_inframe_deletion | MODERATE | HG01943.hp1 HG01978.hp1 HG03704.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 4 | 314 | 0.0127 | -18 | c.155 others(27): Show |
p.Pro others(13): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 1/1 | 3674/7201 | 1552/2664 | 518/887 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SUPT3H_chr6_44821726_45382934 | 44956479 | AAAAATAA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0065 others(97): Show |
100 | 234 | 0.4274 | -18 | c.581 others(35): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45128523 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA18986.hp1 NA18990.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0108 a0001c0002t0002g0126 a0001c0002t0002g0127 others(1): Show |
4 | 237 | 0.0169 | -18 | c.102 others(37): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45302514 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(86): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(86): Show |
89 | 159 | 0.5597 | -18 | c.101 others(37): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45365829 | TTTGAACA others(11): Show |
T | intron_variant | MODIFIER | HG02015.hp2 NA18942.hp1 NA18950.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 |
3 | 262 | 0.0115 | -18 | c.1-5 others(29): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
SUPT6H_chr17_28657205_28707679 | 28667403 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA19010.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0190 a0001c0003t0001g0150 |
2 | 68 | 0.0294 | -18 | c.-32 others(35): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SUPT6H_chr17_28657205_28707679 | 28706930 | GGTGGGGC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0099 | 1 | 202 | 0.0050 | -18 | c.*53 others(29): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 4252 | chr17 | TogoVar | |||||||
SURF4_chr9_133356464_133381060 | 133373909 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 162 | 0.0062 | -18 | c.48+ others(33): Show |
SURF4 | ENSG00000148248.14 | transcript | ENST00000371989.8 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112137483 | AAATCCTT others(11): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0241 | 1 | 336 | 0.0030 | -18 | c.706 others(35): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112142961 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060 a0001c0001t0002g0061 |
2 | 64 | 0.0313 | -18 | c.527 others(33): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112165924 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | NA18522.hp2 NA18991.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0192 a0001c0003t0002g0118 |
2 | 336 | 0.0060 | -18 | c.104 others(35): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
SUSD3_chr9_93053701_93090133 | 93081821 | CAGCAGCC others(11): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0110 | 1 | 338 | 0.0030 | -18 | c.557 others(35): Show |
SUSD3 | ENSG00000157303.11 | transcript | ENST00000375472.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SUSD4_chr1_223215831_223369176 | 223304793 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0160 a0001c0001t0001g0228 a0001c0001t0001g0246 others(3): Show |
6 | 9 | 0.6667 | -18 | c.149 others(37): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
SUZ12_chr17_31932007_32006038 | 31980429 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0238 a0001c0001t0001g0239 |
3 | 34 | 0.0882 | -18 | c.918 others(35): Show |
SUZ12 | ENSG00000178691.11 | transcript | ENST00000322652.10 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91304615 | GGAGAGAG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0006a0001c0025 | a0001c0006t0006a0001c0006t0068a0001c0025t0006 | a0001c0006t0006g0127 a0001c0006t0006g0201 a0001c0006t0068g0190 others(1): Show |
4 | 212 | 0.0189 | -18 | c.*12 others(31): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 2051 | chr15 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76130145 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG03130.hp1 |
a0003a0004 | a0003c0004a0004c0010 | a0003c0004t0120a0004c0010t0027 | a0003c0004t0120g0005 a0004c0010t0027g0104 a0004c0010t0027g0105 |
3 | 26 | 0.1154 | -18 | c.-10 others(37): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76223440 | CATACATA others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02258.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0003others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0046others(4): Show | a0001c0001t0004g0080 a0001c0001t0007g0122 a0001c0001t0046g0048 others(5): Show |
8 | 185 | 0.0432 | -18 | c.913 others(37): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76223479 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01433.hp1 HG02080.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0023others(8): Show | a0001c0001t0001g0059 a0001c0001t0008g0130 a0001c0001t0023g0102 others(8): Show |
11 | 232 | 0.0474 | -18 | c.913 others(37): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76266127 | ACAAATAT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(191): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(153): Show | a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0054 others(191): Show |
194 | 232 | 0.8362 | -18 | c.914 others(37): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76332695 | ACCATGGA others(11): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0009a0001c0001t0013a0001c0001t0025others(18): Show | a0001c0001t0009g0008 a0001c0001t0009g0190 a0001c0001t0013g0085 others(19): Show |
22 | 232 | 0.0948 | -18 | c.*71 others(29): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 13/13 | 7172 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SVBP_chr1_42802052_42822397 | 42808137 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG01993.hp1 HG03831.hp2 HG03927.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0020 a0001c0001t0004g0094 a0001c0001t0016g0089 others(1): Show |
7 | 346 | 0.0202 | -18 | c.115 others(33): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110528156 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0066 | a0066c0135 | a0066c0135t0001 | a0066c0135t0001g0061 | 1 | 120 | 0.0083 | -18 | c.965 others(37): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29486043 | CAATGTGG others(11): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp1 others(16): Show |
a0001a0003a0007others(2): Show | a0001c0032a0003c0013a0003c0074others(6): Show | a0001c0032t0002a0003c0013t0002a0003c0074t0008others(6): Show | a0001c0032t0002g0260 a0003c0013t0002g0063 a0003c0013t0002g0180 others(16): Show |
19 | 288 | 0.0660 | -18 | c.477 others(33): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29509330 | GGAGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp2 |
a0031a0039 | a0031c0121a0039c0066 | a0031c0121t0003a0039c0066t0003 | a0031c0121t0003g0279 a0039c0066t0003g0220 |
2 | 74 | 0.0270 | -18 | c.351 others(37): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138597641 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0180 | 1 | 153 | 0.0065 | -18 | c.135 others(37): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138602441 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(205): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 others(205): Show |
208 | 225 | 0.9244 | -18 | c.135 others(37): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 14/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138637437 | TATATAGA others(11): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0090 a0001c0002t0002g0128 a0001c0002t0002g0129 |
3 | 300 | 0.0100 | -18 | c.789 others(35): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138697738 | GAAAAGAA others(11): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 358 | 0.0028 | -18 | c.-35 others(35): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138702249 | CCGAGGTG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 a0001c0001t0001g0324 |
2 | 358 | 0.0056 | -18 | c.-11 others(29): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 888 | chr7 | TogoVar |