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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STXBP5_chr6_147199417_147395473 | 147380173 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG03688.hp2 HG03834.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0031a0002c0002t0033 | a0002c0002t0002g0024 a0002c0002t0002g0063 a0002c0002t0002g0069 others(7): Show |
10 | 350 | 0.0286 | -6 | c.319 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147392017 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02647.hp1 others(3): Show |
a0001a0003 | a0001c0004a0003c0005 | a0001c0004t0007a0003c0005t0015 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0172 others(3): Show |
6 | 350 | 0.0171 | -6 | c.*72 others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1545 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24882378 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0053 others(53): Show |
56 | 242 | 0.2314 | -6 | c.155 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24886645 | ATTAACT | A | intron_variant | MODIFIER | HG02257.hp1 HG02897.hp2 HG03041.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029a0001c0001t0038others(7): Show | a0001c0001t0028g0148 a0001c0001t0029g0141 a0001c0001t0038g0166 others(7): Show |
10 | 242 | 0.0413 | -6 | c.155 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24918452 | CCACACA | C | intron_variant | MODIFIER | HG00735.hp2 HG02897.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0038a0001c0001t0063others(4): Show | a0001c0001t0005g0099 a0001c0001t0038g0166 a0001c0001t0063g0144 others(4): Show |
7 | 242 | 0.0289 | -6 | c.154 others(25): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24967094 | TCAAGTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(96): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(65): Show | a0001c0001t0001g0007 a0001c0001t0001g0053 a0001c0001t0002g0032 others(96): Show |
99 | 242 | 0.4091 | -6 | c.154 others(23): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24973375 | CTTCCTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(9): Show | a0001c0001t0001g0007 a0001c0001t0006g0004 a0001c0001t0006g0005 others(12): Show |
15 | 242 | 0.0620 | -6 | c.154 others(23): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10614974 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp1 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0009a0002c0003t0011 | a0002c0003t0006g0007 a0002c0003t0006g0050 a0002c0003t0006g0118 others(12): Show |
16 | 368 | 0.0435 | -6 | c.*51 others(17): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 3948 | chr12 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10668539 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0199 a0001c0001t0002g0145 a0001c0001t0002g0146 others(32): Show |
35 | 368 | 0.0951 | -6 | c.-19 others(25): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10674870 | AGCCCGC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01928.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0002g0339 a0001c0001t0003g0160 a0001c0001t0003g0178 others(3): Show |
6 | 368 | 0.0163 | -6 | c.-11 others(17): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 819 | chr12 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76013419 | GTTTGTT | G | intron_variant | MODIFIER | HG03139.hp2 HG03516.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0081 a0001c0003t0001g0248 a0001c0003t0001g0345 others(1): Show |
4 | 356 | 0.0112 | -6 | c.453 others(21): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 5/8 | chr7 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76048981 | CGGGGGG | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00642.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0189 a0001c0002t0002g0035 a0001c0002t0002g0038 others(55): Show |
58 | 356 | 0.1629 | -6 | c.-13 others(17): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 982 | chr7 | TogoVar | |||||||
STYXL2_chr1_167089075_167134165 | 167111469 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp1 HG04204.hp2 NA18971.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0270 a0003c0003t0002g0039 a0003c0003t0002g0271 |
4 | 362 | 0.0111 | -6 | c.111 others(23): Show |
STYXL2 | ENSG00000198842.10 | transcript | ENST00000361200.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUCLA2_chr13_47937656_48006273 | 47945643 | GACACAC | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(60): Show |
a0002a0003a0004 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0010a0002c0011t0001others(2): Show | a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 others(58): Show |
63 | 358 | 0.1760 | -6 | c.131 others(25): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47945681 | CACACAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00673.hp2 others(30): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0106 a0001c0001t0001g0136 others(27): Show |
33 | 358 | 0.0922 | -6 | c.131 others(25): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLG1_chr2_84418528_84464280 | 84434735 | CATAACT | C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(20): Show |
32 | 264 | 0.1212 | -6 | c.590 others(23): Show |
SUCLG1 | ENSG00000163541.12 | transcript | ENST00000393868.7 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67388785 | ATTATAG | A | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02970.hp1 others(2): Show |
a0004a0006a0007 | a0004c0005a0006c0008a0007c0016 | a0004c0005t0001a0006c0008t0001a0007c0016t0001 | a0004c0005t0001g0264 a0004c0005t0001g0265 a0006c0008t0001g0119 others(2): Show |
5 | 280 | 0.0179 | -6 | c.118 others(27): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67399182 | TAAAAAA | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02258.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004 | a0002c0002t0001g0072 a0002c0002t0001g0080 a0002c0002t0001g0118 others(12): Show |
15 | 280 | 0.0536 | -6 | c.118 others(25): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67446417 | ATTTTTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG03130.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0052 a0001c0001t0002g0230 a0001c0001t0009g0214 others(2): Show |
5 | 280 | 0.0179 | -6 | c.106 others(27): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67534768 | CAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG02040.hp2 HG02071.hp2 others(8): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0075 a0001c0001t0001g0101 a0001c0001t0001g0238 others(8): Show |
11 | 280 | 0.0393 | -6 | c.227 others(23): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67592734 | AAACAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00621.hp1 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0025 others(68): Show |
71 | 280 | 0.2536 | -6 | c.226 others(25): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67654930 | AGCAAAT | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004a0001c0004t0016 | a0001c0004t0001g0275 a0001c0004t0004g0273 a0001c0004t0016g0274 |
3 | 280 | 0.0107 | -6 | c.-35 others(15): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 319 | chr3 | TogoVar | |||||||
SUCNR1_chr3_151868643_151889619 | 151869590 | GTTAGTT | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0047 a0001c0001t0002g0093 a0001c0001t0003g0047 others(8): Show |
12 | 456 | 0.0263 | -6 | c.-41 others(17): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 4052 | chr3 | TogoVar | |||||||
SUCNR1_chr3_151868643_151889619 | 151869595 | TTTTAAA | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0020others(7): Show | a0001c0001t0002g0004 a0001c0001t0014g0004 a0001c0001t0014g0033 others(14): Show |
28 | 456 | 0.0614 | -6 | c.-41 others(17): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 4047 | chr3 | TogoVar | |||||||
SUCNR1_chr3_151868643_151889619 | 151874083 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(102): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0002g0004 others(47): Show |
105 | 456 | 0.2303 | -6 | c.-42 others(21): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SUCNR1_chr3_151868643_151889619 | 151874111 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(3): Show | a0001c0001t0001g0034 a0001c0001t0002g0121 a0001c0001t0019g0034 others(4): Show |
7 | 456 | 0.0154 | -6 | c.-42 others(21): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SUCNR1_chr3_151868643_151889619 | 151883465 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(46): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0033others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0007 others(25): Show |
49 | 456 | 0.1075 | -6 | c.*19 others(17): Show |
SUCNR1 | ENSG00000198829.6 | transcript | ENST00000362032.6 | protein_coding | 3/3 | 1952 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SUCO_chr1_172528150_172616833 | 172600696 | ATGTGTG | A | intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG02055.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0194 a0001c0001t0002g0050 a0001c0001t0002g0051 others(17): Show |
23 | 340 | 0.0677 | -6 | c.301 others(23): Show |
SUCO | ENSG00000094975.15 | transcript | ENST00000263688.4 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102618931 | CGTGTGT | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0217 others(7): Show |
10 | 268 | 0.0373 | -6 | c.129 others(25): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SUGCT_chr7_40130005_40865763 | 40384757 | CTGGTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01069.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(4): Show |
7 | 8 | 0.8750 | -6 | c.817 others(25): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUGCT_chr7_40130005_40865763 | 40500884 | AACACAT | A | intron_variant | MODIFIER | HG01069.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 |
2 | 8 | 0.2500 | -6 | c.108 others(25): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUGCT_chr7_40130005_40865763 | 40624772 | AACACAC | A | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 |
3 | 8 | 0.3750 | -6 | c.109 others(29): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUGCT_chr7_40130005_40865763 | 40669346 | CAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(1): Show |
4 | 8 | 0.5000 | -6 | c.109 others(27): Show |
SUGCT | ENSG00000175600.16 | transcript | ENST00000335693.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SUGP1_chr19_19271033_19325509 | 19286959 | AAACAAC | A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0201 a0001c0004t0003g0202 a0001c0004t0003g0203 others(2): Show |
5 | 332 | 0.0151 | -6 | c.124 others(25): Show |
SUGP1 | ENSG00000105705.16 | transcript | ENST00000247001.10 | protein_coding | 8/13 | chr19 | TogoVar | |||||||
SUGP1_chr19_19271033_19325509 | 19291889 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0292 a0001c0001t0002g0210 a0001c0001t0002g0220 others(1): Show |
4 | 332 | 0.0121 | -6 | c.124 others(25): Show |
SUGP1 | ENSG00000105705.16 | transcript | ENST00000247001.10 | protein_coding | 8/13 | chr19 | TogoVar | |||||||
SUGT1_chr13_52647836_52705909 | 52659812 | ATATTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp2 others(33): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0032 others(29): Show |
36 | 310 | 0.1161 | -6 | c.328 others(21): Show |
SUGT1 | ENSG00000165416.15 | transcript | ENST00000310528.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69493448 | TACACAC | T | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00738.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0115 others(12): Show |
15 | 296 | 0.0507 | -6 | c.-39 others(23): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69498113 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0002 others(83): Show |
86 | 296 | 0.2905 | -6 | c.-22 others(25): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69510945 | TACACAC | T | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02451.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0203 others(21): Show |
24 | 296 | 0.0811 | -6 | c.-13 others(25): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69520112 | TACACAC | T | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01243.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0054 others(16): Show |
19 | 296 | 0.0642 | -6 | c.-13 others(27): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69526609 | AAAAAAG | A | intron_variant | MODIFIER | HG01081.hp1 HG02818.hp2 HG02896.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0016a0001c0008t0009others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0084 a0001c0001t0001g0203 others(7): Show |
10 | 296 | 0.0338 | -6 | c.-13 others(27): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69617373 | CTATATA | C | intron_variant | MODIFIER | HG00609.hp1 HG02080.hp2 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0179 a0001c0001t0003g0090 a0001c0001t0003g0095 others(6): Show |
9 | 296 | 0.0304 | -6 | c.137 others(25): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69649972 | CTTTTTT | C | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0051 a0001c0001t0005g0168 a0001c0001t0007g0093 others(10): Show |
13 | 296 | 0.0439 | -6 | c.258 others(25): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF1_chr8_69487847_69665912 | 69651557 | TTTTATC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0001g0047 others(39): Show |
42 | 296 | 0.1419 | -6 | c.258 others(25): Show |
SULF1 | ENSG00000137573.14 | transcript | ENST00000402687.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SULF2_chr20_47652406_47790481 | 47668824 | CCATGGT | C | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0089 a0001c0001t0001g0180 a0001c0001t0005g0006 others(2): Show |
5 | 364 | 0.0137 | -6 | c.157 others(25): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47742927 | ATTTTTT | A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0087 a0001c0001t0001g0168 a0001c0001t0001g0198 others(6): Show |
9 | 364 | 0.0247 | -6 | c.176 others(23): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47745454 | TATACAC | T | intron_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0024others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0002g0270 a0001c0002t0001g0136 a0001c0002t0003g0323 others(4): Show |
7 | 364 | 0.0192 | -6 | c.176 others(23): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47747014 | TATATAC | T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(29): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0082 others(29): Show |
32 | 364 | 0.0879 | -6 | c.176 others(25): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 2/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47758162 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02723.hp2 HG03239.hp1 others(4): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0017others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0191 a0001c0001t0004g0143 others(4): Show |
7 | 364 | 0.0192 | -6 | c.-10 others(23): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 1/20 | chr20 | TogoVar | |||||||
SULT1A1_chr16_28600258_28615044 | 28603092 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(33): Show |
74 | 432 | 0.1713 | -6 | c.*27 others(17): Show |
SULT1A1 | ENSG00000196502.15 | transcript | ENST00000314752.12 | protein_coding | 2165 | chr16 | TogoVar |