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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPLP0_chr12_120191699_120206111 | 120204835 | ACCCTTGT others(28): Show |
A | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 370 | 0.0027 | -35 | c.-38 others(46): Show |
RPLP0 | ENSG00000089157.16 | transcript | ENST00000392514.9 | protein_coding | 3725 | chr12 | TogoVar | |||||||
RPRD2_chr1_150359147_150481566 | 150478626 | AATTCTTC others(28): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 316 | 0.0032 | -35 | c.*52 others(46): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 2061 | chr1 | TogoVar | |||||||
RPS27L_chr15_63143249_63162477 | 63162043 | GCTTTCCC others(28): Show |
G | upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -35 | c.-46 others(46): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 4567 | chr15 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665471 | TCCTTTCC others(28): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0005 | a0005c0092 | a0005c0092t0012 | a0005c0092t0012g0163 | 1 | 191 | 0.0052 | -35 | c.348 others(54): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | chr17 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671123 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 | 1 | 348 | 0.0029 | -35 | c.375 others(52): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671125 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0018 | a0001c0002t0010g0013 a0001c0002t0010g0350 a0001c0002t0018g0046 |
3 | 346 | 0.0087 | -35 | c.375 others(52): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77671127 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0012 | 1 | 347 | 0.0029 | -35 | c.375 others(52): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
RSPH10B_chr7_5921136_5975689 | 5927035 | GTGTGTGT others(28): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0001a0002c0002t0001 | a0001c0009t0001g0007 a0002c0002t0001g0037 |
2 | 70 | 0.0286 | -35 | c.243 others(52): Show |
RSPH10B | ENSG00000155026.17 | transcript | ENST00000404406.6 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
RSPH3_chr6_158967871_159005202 | 158993942 | TTCTGTAT others(28): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0043 | 1 | 300 | 0.0033 | -35 | c.117 others(48): Show |
RSPH3 | ENSG00000130363.13 | transcript | ENST00000367069.7 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241866277 | CGGGATGC others(28): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0023 | a0001c0023t0005 | a0001c0023t0005g0022 | 1 | 345 | 0.0029 | -35 | c.-34 others(46): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 3451 | chr2 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626724 | GTGTCATA others(28): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0091 | 1 | 194 | 0.0052 | -35 | c.-20 others(46): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1673 | chr7 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237117671 | CCTTCTCT others(28): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 |
a0001a0003 | a0001c0003a0003c0021 | a0001c0003t0001a0003c0021t0001 | a0001c0003t0001g0063 a0003c0021t0001g0019 |
2 | 10 | 0.2000 | -35 | c.48+ others(52): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33860895 | GTGTATGG others(28): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00738.hp2 others(20): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(17): Show | a0001c0001t0002g0030 a0001c0001t0002g0099 a0001c0002t0002g0102 others(20): Show |
23 | 152 | 0.1513 | -35 | c.143 others(54): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 101/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 936354 | TCCCGCCT others(28): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG03139.hp1 |
a0006a0020 | a0006c0007a0020c0028 | a0006c0007t0008a0020c0028t0008 | a0006c0007t0008g0274 a0020c0028t0008g0264 |
2 | 432 | 0.0046 | -35 | c.967 others(50): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD3_chr6_130139315_130227951 | 130178233 | CCCAAAGT others(28): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01175.hp1 others(20): Show |
a0001a0004a0008 | a0001c0001a0004c0008a0008c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 others(19): Show |
23 | 336 | 0.0685 | -35 | c.655 others(52): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMSN1_chr21_14480228_14551315 | 14544309 | GCAAAGTG others(28): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0040 | 1 | 406 | 0.0025 | -35 | c.57+ others(50): Show |
SAMSN1 | ENSG00000155307.19 | transcript | ENST00000400566.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31733907 | TTGGAGTA others(28): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 350 | 0.0029 | -35 | c.-22 others(46): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1790 | chr21 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125004757 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0006 | a0001c0006t0041 | a0001c0006t0041g0135 | 1 | 300 | 0.0033 | -35 | c.862 others(52): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78392012 | GGAGAGGG others(28): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007 a0001c0001t0010g0008 a0001c0001t0010g0064 others(1): Show |
4 | 332 | 0.0120 | -35 | c.135 others(52): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP2_chr15_74838730_74878365 | 74874646 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 384 | 0.0026 | -35 | c.-14 others(46): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1282 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874648 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(70): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0059 a0001c0001t0001g0130 others(69): Show |
73 | 384 | 0.1901 | -35 | c.-14 others(46): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1284 | chr15 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74874650 | AAAAAAAA others(28): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01884.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0190 a0001c0001t0004g0151 a0001c0001t0006g0155 |
3 | 383 | 0.0078 | -35 | c.-14 others(46): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1286 | chr15 | TogoVar | |||||||
SCARF2_chr22_20419584_20442825 | 20439366 | AGCCCAGC others(28): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013 | 1 | 400 | 0.0025 | -35 | c.-16 others(46): Show |
SCARF2 | ENSG00000244486.9 | transcript | ENST00000622235.5 | protein_coding | 1542 | chr22 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133472500 | ATCTGGTC others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02145.hp1 |
a0001a0021 | a0001c0001a0021c0055 | a0001c0001t0012a0021c0055t0004 | a0001c0001t0012g0083 a0021c0055t0004g0047 |
2 | 432 | 0.0046 | -35 | c.*45 others(46): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2741 | chr10 | TogoVar | |||||||
SCART1_chr10_133448945_133474760 | 133472570 | GTCTGGTC others(28): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03579.hp2 NA19043.hp2 |
a0002a0015 | a0002c0002a0002c0004a0015c0029 | a0002c0002t0002a0002c0004t0002a0015c0029t0001 | a0002c0002t0002g0015 a0002c0004t0002g0140 a0015c0029t0001g0048 |
3 | 432 | 0.0069 | -35 | c.*46 others(46): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2811 | chr10 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82712255 | TATATATA others(28): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 208 | 0.0048 | -35 | c.233 others(52): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658002 | CCTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0272 | 1 | 242 | 0.0041 | -35 | c.154 others(52): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778203 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0064 | 1 | 248 | 0.0040 | -35 | c.-59 others(52): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778205 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0063 | 1 | 247 | 0.0040 | -35 | c.-59 others(52): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38889802 | AAAAATAA others(28): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01361.hp1 HG02027.hp1 others(16): Show |
a0001a0006 | a0001c0002a0001c0011a0001c0024others(1): Show | a0001c0002t0004a0001c0002t0014a0001c0011t0011others(2): Show | a0001c0002t0004g0042 a0001c0002t0004g0043 a0001c0002t0004g0044 others(16): Show |
19 | 80 | 0.2375 | -35 | c.283 others(54): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 19/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938522 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0195 | 1 | 297 | 0.0034 | -35 | c.488 others(52): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38938524 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0197 | 1 | 310 | 0.0032 | -35 | c.488 others(52): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38963393 | GATATATA others(28): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0251 | 1 | 226 | 0.0044 | -35 | c.-27 others(54): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51721087 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0116 a0001c0003t0006g0118 |
2 | 200 | 0.0100 | -35 | c.163 others(52): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCO2_chr22_50518568_50530598 | 50520246 | ATCTTATT others(28): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 408 | 0.0025 | -35 | c.*33 others(46): Show |
SCO2 | ENSG00000284194.3 | transcript | ENST00000395693.8 | protein_coding | 3321 | chr22 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 53028687 | TGTTAACA others(28): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0263 a0001c0005t0007g0264 a0001c0005t0007g0265 |
3 | 278 | 0.0108 | -35 | c.133 others(52): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227617180 | GAAGATCC others(28): Show |
G | upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 462 | 0.0022 | -35 | c.-23 others(46): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 2341 | chr2 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3705425 | GATTTTAT others(28): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02559.hp2 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0011a0001c0017a0001c0025others(12): Show | a0001c0011t0039a0001c0017t0011a0001c0025t0024others(12): Show | a0001c0011t0039g0061 a0001c0017t0011g0051 a0001c0017t0011g0052 others(13): Show |
16 | 36 | 0.4444 | -35 | c.713 others(54): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDR16C5_chr8_56295005_56325175 | 56310197 | AAGGAGGA others(28): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 394 | 0.0025 | -35 | c.466 others(52): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310245 | AAGGAGGA others(28): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 213 | 0.0094 | -35 | c.466 others(52): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310261 | AAGGAGGA others(28): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 351 | 0.0028 | -35 | c.466 others(52): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77180041 | TTGTTTTG others(28): Show |
T | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG04228.hp1 |
a0001a0004 | a0001c0009a0004c0006 | a0001c0009t0017a0004c0006t0017 | a0001c0009t0017g0193 a0004c0006t0017g0191 a0004c0006t0017g0192 |
3 | 304 | 0.0099 | -35 | c.64- others(52): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC22B_chr1_120145898_120181520 | 120175769 | TGTGGTAC others(28): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0053 | 1 | 378 | 0.0026 | -35 | c.75+ others(48): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094414 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 364 | 0.0027 | -35 | c.222 others(52): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119945027 | CTTTACAG others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(47): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0003t0014a0001c0003t0032others(1): Show | a0001c0003t0004g0002 a0001c0003t0004g0006 a0001c0003t0004g0011 others(30): Show |
50 | 398 | 0.1256 | -35 | c.*44 others(46): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 371 | chr10 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82333641 | AGTCCCCA others(28): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01109.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0003a0002c0003t0009others(6): Show | a0001c0001t0010g0124 a0002c0003t0003g0020 a0002c0003t0003g0021 others(12): Show |
19 | 372 | 0.0511 | -35 | c.-53 others(48): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83383210 | TAGATTTG others(28): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(145): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 others(145): Show |
148 | 210 | 0.7048 | -35 | c.187 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 16/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83389600 | TATACACG others(28): Show |
T | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0109 | 1 | 224 | 0.0045 | -35 | c.166 others(54): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056120 | AATATAGT others(28): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(258): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(250): Show |
261 | 390 | 0.6692 | -35 | c.140 others(54): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056848 | TATATATT others(28): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 390 | 0.0026 | -35 | c.140 others(54): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar |