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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPHS1_chr10_13312428_13353293 | 13325918 | AAAAAAAA others(40): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0174 |
2 | 376 | 0.0053 | -47 | c.751 others(64): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35838316 | CCCTCCCT others(40): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0045 | 1 | 344 | 0.0029 | -47 | c.169 others(64): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17896854 | AAGGGAAG others(40): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 224 | 0.0045 | -47 | c.101 others(68): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERPINA10_chr14_94275460_94298268 | 94276529 | TGGTAAAA others(40): Show |
T | downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | -47 | c.*73 others(58): Show |
SERPINA10 | ENSG00000140093.10 | transcript | ENST00000261994.9 | protein_coding | 3930 | chr14 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101143515 | GAGAAAGA others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01255.hp2 others(43): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(39): Show |
46 | 265 | 0.1736 | -47 | c.*60 others(58): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 4269 | chr7 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7191072 | TGTGGATC others(40): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0103 a0001c0001t0021g0088 a0001c0001t0021g0128 |
3 | 142 | 0.0211 | -47 | c.169 others(66): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50562322 | GACAAACA others(40): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0092 a0001c0002t0001g0306 a0001c0002t0003g0220 |
3 | 309 | 0.0097 | -47 | c.-58 others(68): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SH3BP5L_chr1_248805446_248830915 | 248829750 | TCTCCCCT others(40): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0150 a0001c0001t0002g0002 a0001c0001t0002g0010 others(96): Show |
207 | 410 | 0.5049 | -47 | c.-43 others(58): Show |
SH3BP5L | ENSG00000175137.11 | transcript | ENST00000366472.6 | protein_coding | 3836 | chr1 | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50618379 | CCTTCCTT others(40): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 173 | 0.0058 | -47 | c.295 others(66): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401950 | CCCCCGGC others(40): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0039 | 1 | 201 | 0.0050 | -47 | c.*38 others(58): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3765 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402186 | CGGCCCCG others(40): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG03831.hp2 |
a0001a0004 | a0001c0003a0004c0008 | a0001c0003t0001a0004c0008t0001 | a0001c0003t0001g0042 a0004c0008t0001g0039 |
2 | 238 | 0.0084 | -47 | c.*36 others(58): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3529 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402419 | CGGCCCCG others(40): Show |
C | downstream_gene_variant | MODIFIER | NA18966.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0169 |
2 | 239 | 0.0084 | -47 | c.*34 others(58): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3296 | chr11 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412599 | GAAAGAAA others(40): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0258 | 1 | 308 | 0.0032 | -47 | c.116 others(66): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(40): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0045 others(12): Show |
19 | 20 | 0.9500 | -47 | c.177 others(64): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC15A5_chr12_16183485_16282685 | 16205557 | TATTCCAT others(40): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0021 | a0021c0029 | a0021c0029t0001 | a0021c0029t0001g0222 | 1 | 299 | 0.0033 | -47 | c.148 others(68): Show |
SLC15A5 | ENSG00000188991.3 | transcript | ENST00000344941.3 | protein_coding | 7/8 | chr12 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82227638 | GAGCACCA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0082 others(3): Show |
7 | 396 | 0.0177 | -47 | c.-14 others(58): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1403 | chr17 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339119 | ATATATAT others(40): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0036 | 1 | 448 | 0.0022 | -47 | c.86+ others(60): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19563716 | AATCTGTA others(40): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02572.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0026a0001c0001t0076a0001c0003t0075others(1): Show | a0001c0001t0026g0159 a0001c0001t0076g0077 a0001c0003t0075g0151 others(1): Show |
4 | 186 | 0.0215 | -47 | c.134 others(66): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 7/10 | chr9 | TogoVar | |||||||
SLC26A11_chr17_80215427_80258500 | 80254249 | TTTCCTTC others(40): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(123): Show |
a0001a0003a0007others(5): Show | a0001c0001a0001c0003a0003c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 others(87): Show |
126 | 357 | 0.3529 | -47 | c.*15 others(58): Show |
SLC26A11 | ENSG00000181045.15 | transcript | ENST00000361193.8 | protein_coding | 750 | chr17 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84928581 | TCTTTCTT others(40): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0004a0001c0012t0004 | a0001c0004t0004g0389 a0001c0012t0004g0373 a0001c0012t0004g0374 |
3 | 392 | 0.0077 | -47 | c.108 others(66): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | chr15 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403503 | AGAAAAGA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 327 | 0.0031 | -47 | c.*42 others(58): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3450 | chr11 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168746616 | TAGTATGG others(40): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01496.hp1 others(4): Show |
a0001a0003a0008 | a0001c0010a0001c0016a0001c0017others(2): Show | a0001c0010t0008a0001c0016t0008a0001c0016t0036others(3): Show | a0001c0010t0008g0068 a0001c0010t0008g0071 a0001c0016t0008g0080 others(4): Show |
7 | 132 | 0.0530 | -47 | c.227 others(66): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57934425 | AATACTTT others(40): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 308 | 0.0032 | -47 | c.*71 others(58): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 4423 | chr3 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168200 | CGAAAGAA others(40): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 369 | 0.0054 | -47 | c.-31 others(58): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2993 | chr12 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245992713 | CCCACTTC others(40): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG03098.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0015 a0001c0006t0001g0014 |
2 | 79 | 0.0253 | -47 | c.532 others(66): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246478481 | GGTGCTCA others(40): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 109 | 0.0092 | -47 | c.164 others(66): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246478593 | CCTGTCCT others(40): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 HG02970.hp1 others(2): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0005t0001 | a0002c0003t0001g0121 a0002c0003t0002g0122 a0002c0003t0002g0124 others(2): Show |
5 | 150 | 0.0333 | -47 | c.164 others(66): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403322 | GGGGGGAG others(40): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0099 | 1 | 239 | 0.0042 | -47 | c.-32 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403393 | AGGGAGCA others(40): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02280.hp1 others(6): Show |
a0001a0006a0017 | a0001c0001a0006c0009a0017c0022 | a0001c0001t0001a0006c0009t0003a0017c0022t0003 | a0001c0001t0001g0093 a0001c0001t0001g0120 a0006c0009t0003g0049 others(4): Show |
9 | 330 | 0.0273 | -47 | c.-33 others(58): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3224 | chr9 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 128097546 | GACCTAAT others(40): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 260 | 0.0038 | -47 | c.*54 others(58): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 4954 | chr7 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69292390 | TTATATAT others(40): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0152 | 1 | 207 | 0.0048 | -47 | c.134 others(66): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1112105 | GTACTTTG others(40): Show |
G | intron_variant | MODIFIER | HG03710.hp1 NA21309.hp2 |
a0003a0007 | a0003c0007a0007c0016 | a0003c0007t0001a0007c0016t0001 | a0003c0007t0001g0080 a0007c0016t0001g0143 |
2 | 188 | 0.0106 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1112592 | GTGTGTAC others(40): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 HG03453.hp2 others(4): Show |
a0001a0004a0005 | a0001c0002a0004c0004a0004c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0004c0004t0001others(2): Show | a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0141 others(4): Show |
7 | 188 | 0.0372 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1113663 | TGTACTAA others(40): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0007a0004c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0003c0007t0001others(2): Show | a0001c0002t0001g0118 a0001c0002t0002g0076 a0003c0007t0001g0068 others(2): Show |
5 | 188 | 0.0266 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1115123 | CAGGTTTA others(40): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 188 | 0.0053 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1115655 | GAGGATCG others(40): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0080 | 1 | 188 | 0.0053 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1115688 | TACAGTCC others(40): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01074.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0008others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0008t0001others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 others(11): Show |
14 | 188 | 0.0745 | -47 | c.325 others(66): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX16_chr8_81794583_81847185 | 81842354 | GAGAGAGA others(40): Show |
G | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 | 1 | 257 | 0.0039 | -47 | c.-37 others(56): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 170 | chr8 | TogoVar | |||||||
SNX3_chr6_108206222_108266040 | 108264632 | CTGGGCGC others(40): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 354 | 0.0028 | -47 | c.-37 others(58): Show |
SNX3 | ENSG00000112335.15 | transcript | ENST00000230085.13 | protein_coding | 3593 | chr6 | TogoVar | |||||||
SOCS3_chr17_78351778_78365077 | 78364372 | TTTTTAAG others(40): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 466 | 0.0021 | -47 | c.-47 others(58): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 4296 | chr17 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104696635 | TATATATA others(40): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01081.hp1 others(15): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0046 a0001c0001t0002g0082 a0001c0001t0002g0083 others(15): Show |
18 | 133 | 0.1353 | -47 | c.627 others(66): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SOX21_chr13_94704622_94717545 | 94713995 | GAAAAATA others(40): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 434 | 0.0023 | -47 | c.-19 others(58): Show |
SOX21 | ENSG00000125285.6 | transcript | ENST00000376945.4 | protein_coding | 1451 | chr13 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132294 | GGAAGGAA others(40): Show |
G | intron_variant | MODIFIER | HG03704.hp1 NA19066.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0030a0001c0003t0010 | a0001c0001t0030g0206 a0001c0003t0010g0100 |
2 | 204 | 0.0098 | -47 | c.778 others(66): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPADH_chr10_122667850_122684494 | 122681410 | AGATAGAA others(40): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -47 | c.*23 others(58): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 1917 | chr10 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1165267 | GGGGGCCC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(109): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(9): Show |
112 | 425 | 0.2635 | -47 | c.*21 others(58): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1664 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1165347 | GTCAACAC others(40): Show |
G | downstream_gene_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 430 | 0.0023 | -47 | c.*20 others(58): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1584 | chr4 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2347663 | CTCTCCAC others(40): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01884.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0003a0002c0005t0001a0002c0005t0003others(4): Show | a0001c0001t0003g0139 a0002c0005t0001g0003 a0002c0005t0001g0147 others(11): Show |
25 | 412 | 0.0607 | -47 | c.135 others(66): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2347961 | TTGATGCG others(40): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 2 | 410 | 0.0049 | -47 | c.135 others(66): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2350455 | TTCTCTCT others(40): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0157 | 1 | 412 | 0.0024 | -47 | c.135 others(64): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPRED2_chr2_65305851_65437599 | 65369658 | GCAGCTTC others(40): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(268): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(267): Show |
271 | 274 | 0.9891 | -47 | c.27- others(64): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar |