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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STXBP3_chr1_108741674_108814523 | 108772014 | C | CTATCTAT others(33): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02129.hp1 NA19057.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show |
4 | 42 | 0.0952 | 40 | c.439 others(55): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUCLA2_chr13_47937656_48006273 | 47949881 | T | TTAAATTT others(33): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 2 | 356 | 0.0056 | 40 | c.110 others(57): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 8/10 | chr13 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637140 | T | TGCAGAGG others(33): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0257 | 1 | 266 | 0.0038 | 40 | c.*69 others(51): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3606 | chr10 | TogoVar | |||||||
SULT1B1_chr4_69716167_69765620 | 69762726 | C | CTCAGGGT others(33): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 406 | 0.0025 | 40 | c.-23 others(51): Show |
SULT1B1 | ENSG00000173597.9 | transcript | ENST00000310613.8 | protein_coding | 2107 | chr4 | TogoVar | |||||||
SULT1C3_chr2_108234968_108265886 | 108254708 | T | TATATGTA others(33): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0109 | 1 | 374 | 0.0027 | 40 | c.400 others(55): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SUMF1_chr3_4356146_4472269 | 4456656 | G | GTATATAT others(33): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18969.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0353 a0001c0001t0002g0354 |
4 | 390 | 0.0103 | 40 | c.271 others(57): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4457009 | C | CGTGTGTG others(33): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0315 a0001c0001t0008g0314 |
2 | 341 | 0.0059 | 40 | c.271 others(57): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
SUMF1_chr3_4356146_4472269 | 4471106 | G | GGCTGAGG others(33): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 390 | 0.0026 | 40 | c.-38 others(51): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 3838 | chr3 | TogoVar | |||||||
SUOX_chr12_55992276_56010525 | 55996003 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 214 | 0.0047 | 40 | c.-14 others(51): Show |
SUOX | ENSG00000139531.13 | transcript | ENST00000266971.8 | protein_coding | 1272 | chr12 | TogoVar | |||||||
SUPT20HL1_chrX_24355639_24372839 | 24360488 | C | CACACACA others(33): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 NA18950.hp2 NA19003.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 4 | 276 | 0.0145 | 40 | c.-22 others(51): Show |
SUPT20HL1 | ENSG00000223731.4 | transcript | ENST00000686983.1 | protein_coding | 150 | chrX | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCATATAT others(33): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03017.hp1 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0166 a0001c0001t0004g0171 a0001c0001t0004g0180 others(1): Show |
4 | 124 | 0.0323 | 40 | c.102 others(61): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45230660 | G | GCCTATAT others(33): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0082 |
2 | 122 | 0.0164 | 40 | c.102 others(61): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45253872 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 242 | 0.0041 | 40 | c.101 others(61): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUSD1_chr9_112035783_112180297 | 112138240 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 288 | 0.0035 | 40 | c.706 others(57): Show |
SUSD1 | ENSG00000106868.17 | transcript | ENST00000374270.8 | protein_coding | 5/16 | chr9 | TogoVar | |||||||
SUSD5_chr3_33145043_33223810 | 33213773 | C | CAAACAAA others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0392 | 1 | 390 | 0.0026 | 40 | c.290 others(55): Show |
SUSD5 | ENSG00000173705.9 | transcript | ENST00000309558.8 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91158698 | T | TCTCTTCT others(33): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0072a0001c0004t0026 | a0001c0001t0002g0015 a0001c0002t0072g0063 a0001c0004t0026g0011 |
3 | 108 | 0.0278 | 40 | c.-39 others(61): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76218819 | A | ACACAGTG others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(170): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0039 others(225): Show |
228 | 231 | 0.9870 | 40 | c.913 others(57): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0048 | a0048c0050 | a0048c0050t0004 | a0048c0050t0004g0120 | 1 | 217 | 0.0046 | 40 | c.982 others(59): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTTTATAT others(33): Show |
intron_variant | MODIFIER | HG01433.hp1 NA19080.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0002 | a0001c0002t0002g0269 a0002c0001t0002g0303 |
2 | 218 | 0.0092 | 40 | c.982 others(59): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138621994 | C | CTATCTAT others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 333 | 0.0030 | 40 | c.126 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138637481 | G | GATATCTA others(33): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164 a0001c0001t0003g0168 |
2 | 291 | 0.0069 | 40 | c.789 others(57): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGAAAGG others(33): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(9): Show | a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0002g0128 others(16): Show |
19 | 124 | 0.1532 | 40 | c.*92 others(51): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGGAAGG others(33): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0070a0001c0002t0013 | a0001c0001t0070g0250 a0001c0002t0013g0167 |
2 | 107 | 0.0187 | 40 | c.*92 others(51): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108903322 | G | GAAGGAAG others(33): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0029 | 1 | 276 | 0.0036 | 40 | c.*92 others(51): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4418 | chr12 | TogoVar | |||||||
SYCP1_chr1_114849863_115000370 | 114881501 | A | ATCCTTCC others(33): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0052 |
2 | 79 | 0.0253 | 40 | c.910 others(57): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10978305 | A | ATATATAT others(33): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0334 | 1 | 269 | 0.0037 | 40 | c.*43 others(51): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 3997 | chr6 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18939.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 |
3 | 122 | 0.0246 | 40 | c.236 others(55): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18979.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0107 |
3 | 122 | 0.0246 | 40 | c.236 others(55): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 120 | 0.0083 | 40 | c.236 others(55): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884743 | A | ACACATAT others(33): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0005 | a0001c0005t0042 | a0001c0005t0042g0058 | 1 | 351 | 0.0028 | 40 | c.158 others(59): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884743 | A | ACACATAT others(33): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0068 | a0001c0005t0068g0245 | 1 | 351 | 0.0028 | 40 | c.158 others(59): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32572243 | C | CTCCTTCC others(33): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0063 | 1 | 111 | 0.0090 | 40 | c.774 others(59): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32758681 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG00741.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(7): Show | a0001c0001t0001g0032 a0001c0001t0003g0107 a0001c0001t0003g0151 others(9): Show |
12 | 22 | 0.5455 | 40 | c.711 others(61): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32814324 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0097 others(24): Show |
27 | 47 | 0.5745 | 40 | c.711 others(59): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32899101 | A | AAAAACAA others(33): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 3 | 0.3333 | 40 | c.462 others(59): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95429967 | T | TAAGGAAG others(33): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG02015.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0085a0002c0007a0002c0017others(6): Show | a0001c0085t0212a0002c0007t0122a0002c0017t0044others(8): Show | a0001c0085t0212g0071 a0002c0007t0122g0171 a0002c0017t0044g0059 others(8): Show |
11 | 90 | 0.1222 | 40 | c.272 others(59): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 59 | 0.0169 | 40 | c.-64 others(49): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0022 | a0022c0045 | a0022c0045t0003 | a0022c0045t0003g0003 | 1 | 59 | 0.0169 | 40 | c.-64 others(49): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0034 | 1 | 59 | 0.0169 | 40 | c.-64 others(49): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0050 | 1 | 59 | 0.0169 | 40 | c.-64 others(49): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118890697 | T | TTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 103 | 0.0097 | 40 | c.105 others(57): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 162 | 0.0062 | 40 | c.85- others(57): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63581399 | G | GTAACATA others(33): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(67): Show |
70 | 246 | 0.2846 | 40 | c.408 others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63595743 | A | ATAATTTT others(33): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0111 | 1 | 230 | 0.0043 | 40 | c.409 others(59): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT12_chr11_67018134_67055863 | 67035837 | C | CCTTCCTT others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0122 | 1 | 187 | 0.0053 | 40 | c.228 others(57): Show |
SYT12 | ENSG00000173227.14 | transcript | ENST00000527043.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79446000 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0032 a0001c0001t0009g0008 |
2 | 51 | 0.0392 | 40 | c.106 others(59): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79446000 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 50 | 0.0200 | 40 | c.106 others(59): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT5_chr19_55166196_55185289 | 55168406 | T | TATATATA others(33): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0127 | 1 | 155 | 0.0065 | 40 | c.*50 others(51): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 2789 | chr19 | TogoVar | |||||||
SYT5_chr19_55166196_55185289 | 55170850 | T | TTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0033 | 1 | 288 | 0.0035 | 40 | c.*26 others(51): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 345 | chr19 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114129564 | T | TTTCTTTC others(33): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 279 | 0.0036 | 40 | c.107 others(59): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 3/7 | chr1 | TogoVar |