regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STPG4_chr2_47081991_47160308 | 47085030 | C | CACACACA others(29): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 352 | 0.0028 | 36 | c.*19 others(47): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 1960 | chr2 | TogoVar | ||||||
STPG4_chr2_47081991_47160308 | 47085030 | C | CACACACA others(29): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 352 | 0.0028 | 36 | c.*19 others(47): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 1960 | chr2 | TogoVar | ||||||
STRIP1_chr1_110029624_110059641 | 110038082 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 406 | 0.0025 | 36 | c.250 others(51): Show |
STRIP1 | ENSG00000143093.15 | transcript | ENST00000369795.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STRN_chr2_36832698_36971536 | 36966898 | A | AACACACA others(29): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0121 | a0001c0001t0121g0281 | 1 | 302 | 0.0033 | 36 | c.-43 others(45): Show |
STRN | ENSG00000115808.13 | transcript | ENST00000263918.9 | protein_coding | 363 | chr2 | TogoVar | ||||||
STS_chrX_7142712_7359641 | 7320002 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | NA19077.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0025a0001c0001t0030g0038 | 2 | 231 | 0.0087 | 36 | c.108 others(55): Show |
STS | ENSG00000101846.9 | transcript | ENST00000674429.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
STX6_chr1_180967725_181027870 | 181023028 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 350 | 0.0029 | 36 | c.-35 others(45): Show |
STX6 | ENSG00000135823.14 | transcript | ENST00000258301.6 | protein_coding | 159 | chr1 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9429998 | A | ATATTATA others(29): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0030 | 1 | 188 | 0.0053 | 36 | c.542 others(55): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9430027 | A | AATATATT others(29): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025a0001c0002t0002g0045 | 2 | 188 | 0.0106 | 36 | c.542 others(55): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9503105 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0187 | 1 | 188 | 0.0053 | 36 | c.448 others(53): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
STX8_chr17_9245471_9580820 | 9504973 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0092 | 1 | 188 | 0.0053 | 36 | c.448 others(49): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771370 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0156 | 2 | 334 | 0.0060 | 36 | c.439 others(53): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP3_chr1_108741674_108814523 | 108771611 | G | GATATATA others(29): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18522.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0153a0001c0005t0002g0154 | 2 | 334 | 0.0060 | 36 | c.439 others(53): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
STXBP5L_chr3_120903205_121429761 | 121359968 | A | ATATATAA others(29): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0026 | 2 | 290 | 0.0069 | 36 | c.217 others(57): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SUCLG2_chr3_67369719_67659612 | 67422473 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 280 | 0.0036 | 36 | c.106 others(57): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | ||||||
SUCO_chr1_172528150_172616833 | 172607397 | G | GAATATAG others(29): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048a0001c0001t0002g0049 | 2 | 340 | 0.0059 | 36 | c.326 others(55): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SUFU_chr10_102498972_102638535 | 102637787 | A | ATATATTA others(29): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 268 | 0.0037 | 36 | c.*76 others(47): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 4253 | chr10 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4456640 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(53): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0320a0001c0001t0002g0009a0001c0001t0002g0069others(51): Show | 56 | 392 | 0.1429 | 36 | c.271 others(53): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4457058 | G | GTATATAT others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0355 | 1 | 392 | 0.0026 | 36 | c.271 others(53): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
SUN1_chr7_827476_879934 | 847976 | T | TCCTGGGG others(29): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02965.hp2 others(10): Show |
a0001a0002a0018others(1): Show | a0001c0006a0002c0002a0018c0027others(1): Show | a0001c0006t0001a0002c0002t0001a0018c0027t0001others(1): Show | a0001c0006t0001g0039a0001c0006t0001g0040a0001c0006t0001g0049others(10): Show | 13 | 418 | 0.0311 | 36 | c.659 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 848084 | T | TCCTGGGG others(29): Show |
intron_variant | MODIFIER | HG04199.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 418 | 0.0048 | 36 | c.659 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 848084 | T | TCCTGGGG others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(165): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0022a0001c0023others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0017a0001c0001t0001g0020others(151): Show | 168 | 418 | 0.4019 | 36 | c.659 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 866532 | T | TCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02615.hp1 HG02723.hp2 others(7): Show |
a0003a0008a0014 | a0003c0003a0003c0012a0008c0011others(1): Show | a0003c0003t0001a0003c0003t0005a0003c0012t0005others(2): Show | a0003c0003t0001g0335a0003c0003t0001g0336a0003c0003t0001g0368others(7): Show | 10 | 418 | 0.0239 | 36 | c.198 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 866562 | A | ACCTTCGC others(29): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02622.hp2 HG02630.hp2 others(11): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0002c0002t0003a0006c0009t0001 | a0002c0002t0001g0074a0002c0002t0003g0006a0002c0002t0003g0012others(8): Show | 14 | 418 | 0.0335 | 36 | c.198 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 866667 | C | CGGGCCTT others(29): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02132.hp2 HG02717.hp1 others(17): Show |
a0001a0010a0017 | a0001c0004a0001c0006a0010c0014others(1): Show | a0001c0004t0002a0001c0004t0008a0001c0004t0023others(3): Show | a0001c0004t0002g0026a0001c0004t0002g0242a0001c0004t0002g0243others(16): Show | 20 | 418 | 0.0479 | 36 | c.198 others(53): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SUN1_chr7_827476_879934 | 866712 | G | GCCCCCAC others(29): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 418 | 0.0024 | 36 | c.198 others(53): 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(29): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 422 | 0.0024 | 36 | c.-14 others(47): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | ||||||
SUPT20HL1_chrX_24355639_24372839 | 24360488 | C | CACACACA others(29): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 HG02280.hp2 HG02630.hp1 others(4): Show |
a0001a0004a0007others(1): Show | a0001c0041a0004c0004a0007c0010others(1): Show | a0001c0041t0003a0004c0004t0003a0007c0010t0003others(1): Show | a0001c0041t0003g0000a0004c0004t0003g0000a0007c0010t0003g0000others(1): Show | 7 | 316 | 0.0222 | 36 | c.-22 others(47): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 150 | chrX | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 44928882 | C | CAAAATAA others(29): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 262 | 0.0038 | 36 | c.912 others(53): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45204250 | A | AAAGAAGA others(29): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063a0001c0001t0001g0064 | 2 | 262 | 0.0076 | 36 | c.102 others(55): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCATATAT others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184a0001c0001t0004g0185 | 2 | 262 | 0.0076 | 36 | c.102 others(57): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCCTATAT others(29): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0075 | 2 | 262 | 0.0076 | 36 | c.102 others(57): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45230686 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 262 | 0.0038 | 36 | c.102 others(57): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45253848 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 262 | 0.0038 | 36 | c.101 others(57): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
SUPT6H_chr17_28657205_28707679 | 28663828 | A | ATTTTTTT others(29): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03490.hp1 HG04184.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0002a0001c0003t0001a0003c0009t0001 | a0001c0001t0002g0185a0001c0001t0002g0186a0001c0003t0001g0183others(1): Show | 4 | 236 | 0.0170 | 36 | c.-32 others(53): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SUPT7L_chr2_27645809_27668614 | 27646468 | C | CTGTATAT others(29): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 366 | 0.0027 | 36 | c.*70 others(47): Show |
SUPT7L | ENSG00000119760.16 | transcript | ENST00000337768.10 | protein_coding | 4340 | chr2 | TogoVar | ||||||
SURF4_chr9_133356464_133381060 | 133377093 | T | TTGCGGGT others(29): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 424 | 0.0024 | 36 | c.-11 others(47): Show |
SURF4 | ENSG00000148248.14 | transcript | ENST00000371989.8 | protein_coding | 1034 | chr9 | TogoVar | ||||||
SUSD4_chr1_223215831_223369176 | 223268042 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 276 | 0.0036 | 36 | c.535 others(51): Show |
SUSD4 | ENSG00000143502.16 | transcript | ENST00000366878.9 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
SUSD6_chr14_69606596_69720144 | 69607669 | G | GTCAGATG others(29): Show |
upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 288 | 0.0035 | 36 | c.-42 others(47): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 3926 | chr14 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91168301 | C | CGAGAGAG others(29): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 214 | 0.0047 | 36 | c.-39 others(57): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76197707 | C | CAGATAGA others(29): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0181 | 1 | 234 | 0.0043 | 36 | c.761 others(53): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SVEP1_chr9_110360248_110584741 | 110390111 | A | ATATATAC others(29): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(21): Show |
a0007a0010a0015others(14): Show | a0007c0080a0010c0013a0015c0011others(16): Show | a0007c0080t0004a0010c0013t0001a0010c0013t0003others(17): Show | a0007c0080t0004g0121a0010c0013t0001g0198a0010c0013t0003g0195others(21): Show | 24 | 362 | 0.0663 | 36 | c.982 others(53): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 NA18522.hp2 |
a0026a0075a0094 | a0026c0148a0075c0093a0094c0081 | a0026c0148t0004a0075c0093t0004a0094c0081t0004 | a0026c0148t0004g0355a0075c0093t0004g0084a0094c0081t0004g0123 | 3 | 362 | 0.0083 | 36 | c.982 others(55): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18970.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0232a0002c0001t0002g0308 | 2 | 362 | 0.0055 | 36 | c.982 others(55): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392151 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0132 | 1 | 362 | 0.0028 | 36 | c.982 others(55): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392151 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19240.hp1 NA20300.hp2 |
a0044a0081 | a0044c0047a0081c0104 | a0044c0047t0003a0081c0104t0003 | a0044c0047t0003g0087a0081c0104t0003g0037 | 2 | 362 | 0.0055 | 36 | c.982 others(55): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110572789 | C | CAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18946.hp2 |
a0010a0020 | a0010c0013a0020c0024 | a0010c0013t0003a0020c0024t0001 | a0010c0013t0003g0039a0020c0024t0001g0247 | 2 | 362 | 0.0055 | 36 | c.531 others(53): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGAAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00741.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(9): Show | a0001c0001t0002g0057a0001c0001t0002g0063a0001c0001t0002g0079others(36): Show | 39 | 288 | 0.1354 | 36 | c.*92 others(47): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGGAAGG others(29): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02280.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0002t0013a0001c0003t0016 | a0001c0001t0013g0278a0001c0001t0013g0279a0001c0002t0013g0265others(1): Show | 4 | 288 | 0.0139 | 36 | c.*92 others(47): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9705452 | C | CTTGGTGA others(29): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 NA19043.hp2 |
a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0097a0002c0001t0008g0098a0002c0001t0008g0246 | 3 | 294 | 0.0102 | 36 | c.241 others(53): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWAP70_chr11_9659077_9757993 | 9705504 | C | CTTTGTGA others(29): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01361.hp2 HG03516.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0019a0002c0005t0007g0020a0002c0005t0007g0021others(1): Show | 4 | 294 | 0.0136 | 36 | c.241 others(53): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |