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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC25A15_chr13_40784611_40817460 | 40809571 | ACCTACTA others(39): Show |
A | frameshift_variant | HIGH | HG02922.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0001 | 1 | 416 | 0.0024 | -46 | c.816 others(53): Show |
p.Met others(5): Show |
SLC25A15 | ENSG00000102743.16 | transcript | ENST00000338625.9 | protein_coding | 7/7 | 938/3821 | 816/906 | 272/301 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
SLC25A18_chr22_17558498_17595995 | 17561754 | CATGTGCT others(39): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020a0001c0001t0004g0021 | 2 | 410 | 0.0049 | -46 | c.-22 others(57): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 1743 | chr22 | TogoVar | ||||||
SLC25A37_chr8_23523956_23580463 | 23546564 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG01891.hp2 others(26): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0009a0002c0004others(2): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(15): Show | a0001c0001t0005g0129a0001c0001t0007g0003a0001c0001t0007g0245others(24): Show | 29 | 406 | 0.0714 | -46 | c.210 others(65): Show |
SLC25A37 | ENSG00000147454.14 | transcript | ENST00000519973.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SLC26A4_chr7_107655828_107722809 | 107680090 | TATATAAT others(39): Show |
T | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 366 | 0.0027 | -46 | c.766 others(63): Show |
SLC26A4 | ENSG00000091137.14 | transcript | ENST00000644269.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SLC28A1_chr15_84879662_84950798 | 84906520 | GTTTGTTT others(39): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0384 | 1 | 396 | 0.0025 | -46 | c.717 others(61): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC28A1_chr15_84879662_84950798 | 84906539 | TCTTTCTT others(39): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02056.hp2 HG02896.hp1 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0015a0004c0003others(1): Show | a0001c0002t0001a0003c0015t0001a0004c0003t0002others(1): Show | a0001c0002t0001g0075a0001c0002t0001g0130a0003c0015t0001g0272others(3): Show | 6 | 396 | 0.0152 | -46 | c.717 others(61): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC28A1_chr15_84879662_84950798 | 84928570 | CTTTCTTT others(39): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0376 | 1 | 396 | 0.0025 | -46 | c.108 others(65): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC2A10_chr20_46704649_46741347 | 46732717 | GTGCCTGG others(39): Show |
G | intron_variant | MODIFIER | NA18522.hp2 NA19043.hp1 |
a0006 | a0006c0007 | a0006c0007t0009 | a0006c0007t0009g0192a0006c0007t0009g0207 | 2 | 362 | 0.0055 | -46 | c.154 others(64): Show |
SLC2A10 | ENSG00000197496.6 | transcript | ENST00000359271.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC2A12_chr6_133982581_134057624 | 134032422 | ATATTTAT others(39): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03579.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0042others(1): Show | a0001c0001t0003g0033a0001c0001t0019g0146a0001c0001t0042g0145others(1): Show | 4 | 338 | 0.0118 | -46 | c.104 others(63): Show |
SLC2A12 | ENSG00000146411.6 | transcript | ENST00000275230.6 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
SLC2A13_chr12_39750025_40111081 | 39817380 | TTCCATTT others(39): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01175.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0012a0001c0002t0004g0013a0001c0002t0004g0015others(7): Show | 10 | 214 | 0.0467 | -46 | c.144 others(67): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
SLC2A13_chr12_39750025_40111081 | 39820717 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | NA18973.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0080 | 2 | 214 | 0.0094 | -46 | c.144 others(65): Show |
SLC2A13 | ENSG00000151229.13 | transcript | ENST00000280871.9 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
SLC30A4_chr15_45474606_45527755 | 45477635 | AATATATA others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG02145.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0009a0001c0003t0050 | a0001c0003t0004g0026a0001c0003t0004g0028a0001c0003t0004g0038others(3): Show | 6 | 318 | 0.0189 | -46 | c.*74 others(57): Show |
SLC30A4 | ENSG00000104154.7 | transcript | ENST00000261867.5 | protein_coding | 1970 | chr15 | TogoVar | ||||||
SLC35B3_chr6_8406435_8440545 | 8438772 | TCTTTCTT others(39): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 412 | 0.0024 | -46 | c.-35 others(57): Show |
SLC35B3 | ENSG00000124786.13 | transcript | ENST00000710437.1 | protein_coding | 3228 | chr6 | TogoVar | ||||||
SLC37A1_chr21_42508852_42586426 | 42570132 | TGACACAC others(39): Show |
T | intron_variant | MODIFIER | HG03688.hp1 HG03831.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0052a0001c0001t0001g0060a0001c0001t0049g0212 | 3 | 356 | 0.0084 | -46 | c.142 others(65): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | chr21 | TogoVar | ||||||
SLC39A8_chr4_102256666_102350482 | 102350128 | TATATATA others(39): Show |
T | upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0239 | 1 | 266 | 0.0038 | -46 | c.-50 others(57): Show |
SLC39A8 | ENSG00000138821.14 | transcript | ENST00000356736.5 | protein_coding | 4647 | chr4 | TogoVar | ||||||
SLC3A1_chr2_44270480_44326494 | 44286584 | GTGAGCTG others(39): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0147 | 1 | 354 | 0.0028 | -46 | c.891 others(61): Show |
SLC3A1 | ENSG00000138079.14 | transcript | ENST00000260649.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC45A4_chr8_141202174_141313288 | 141202216 | CGGCGGGG others(39): Show |
C | downstream_gene_variant | MODIFIER | NA19057.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0018 | a0001c0004t0006g0091a0001c0004t0006g0099a0001c0004t0018g0186 | 3 | 188 | 0.0160 | -46 | c.*93 others(57): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 4957 | chr8 | TogoVar | ||||||
SLC5A12_chr11_26662020_26727060 | 26680283 | TTATATAT others(39): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0010 | a0002c0010t0021 | a0002c0010t0021g0083 | 1 | 412 | 0.0024 | -46 | c.147 others(63): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | ||||||
SLC5A4_chr22_32213464_32260347 | 32238185 | AAAACAGC others(39): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0090 | 1 | 302 | 0.0033 | -46 | c.583 others(61): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 6/14 | chr22 | TogoVar | ||||||
SLC6A15_chr12_84854491_84917799 | 84900886 | GTGTATAT others(39): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(119): Show | 133 | 218 | 0.6101 | -46 | c.-18 others(65): Show |
SLC6A15 | ENSG00000072041.18 | transcript | ENST00000266682.10 | protein_coding | 1/11 | chr12 | TogoVar | ||||||
SLC7A6_chr16_68259526_68306819 | 68278938 | CGCCCCCC others(39): Show |
C | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0184 | 1 | 282 | 0.0036 | -46 | c.523 others(63): Show |
SLC7A6 | ENSG00000103064.15 | transcript | ENST00000219343.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 467396 | GGAGGGCG others(39): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02083.hp2 HG02523.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0080a0002c0002t0002g0049a0002c0002t0002g0145others(5): Show | 8 | 218 | 0.0367 | -46 | c.*59 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3059 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 467466 | CTGTCTGA others(39): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0003a0001c0007a0001c0009others(1): Show | a0001c0003t0008a0001c0007t0012a0001c0009t0008others(1): Show | a0001c0003t0008g0038a0001c0003t0008g0039a0001c0003t0008g0112others(5): Show | 8 | 218 | 0.0367 | -46 | c.*58 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2989 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 467856 | AGAGGGCG others(39): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0151 | 1 | 218 | 0.0046 | -46 | c.*54 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2599 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 467928 | ATCTGACA others(39): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0006a0002c0006t0026 | a0002c0006t0006g0001a0002c0006t0006g0177a0002c0006t0006g0178others(1): Show | 5 | 218 | 0.0229 | -46 | c.*54 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2527 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 468158 | GTCTGACA others(39): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01099.hp2 others(13): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0002others(3): Show | a0001c0003t0008a0001c0009t0008a0002c0002t0002others(6): Show | a0001c0003t0008g0118a0001c0009t0008g0151a0002c0002t0002g0020others(12): Show | 16 | 218 | 0.0734 | -46 | c.*51 others(57): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2297 | chr5 | TogoVar | ||||||
SLC9A6_chrX_135980435_136052269 | 136023163 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0125a0001c0001t0001g0160 | 3 | 199 | 0.0151 | -46 | c.130 others(63): Show |
SLC9A6 | ENSG00000198689.13 | transcript | ENST00000630721.3 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLC9A9_chr3_143260222_143853468 | 143705000 | TATCTATC others(39): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(9): Show | a0001c0001t0004g0033a0001c0001t0005g0090a0001c0001t0013g0032others(9): Show | 12 | 108 | 0.1111 | -46 | c.534 others(65): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
SLCO6A1_chr5_102366774_102504001 | 102460899 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(224): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0018others(222): Show | 227 | 342 | 0.6637 | -46 | c.900 others(63): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SLF1_chr5_94613669_94702621 | 94656292 | GTACACTT others(39): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0007 | a0007c0013 | a0007c0013t0023 | a0007c0013t0023g0269 | 1 | 364 | 0.0028 | -46 | c.115 others(65): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20291462 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0027a0001c0002t0059a0001c0006t0025 | a0001c0001t0027g0033a0001c0002t0059g0025a0001c0006t0025g0027 | 3 | 230 | 0.0130 | -46 | c.395 others(65): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20291464 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0025 | a0001c0006t0025g0026 | 1 | 230 | 0.0044 | -46 | c.395 others(65): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLITRK5_chr13_87666371_87684616 | 87679849 | ATATATAG others(39): Show |
A | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 404 | 0.0025 | -46 | c.*15 others(57): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 234 | chr13 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39619458 | ATATCAAT others(39): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0237 | 1 | 344 | 0.0029 | -46 | c.-35 others(65): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39619482 | ATATCAAT others(39): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01943.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0119a0001c0001t0004g0093others(4): Show | 7 | 344 | 0.0204 | -46 | c.-35 others(65): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMIM44_chr19_3477110_3488441 | 3487354 | GCTCAGGC others(39): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 400 | 0.0025 | -46 | c.-39 others(57): Show |
SMIM44 | ENSG00000284638.2 | transcript | ENST00000641816.2 | protein_coding | 3914 | chr19 | TogoVar | ||||||
SMLR1_chr6_130822406_130842135 | 130832797 | GAGTCCTC others(39): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0046 | 1 | 440 | 0.0023 | -46 | c.239 others(63): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6390305 | GCCCGGGG others(39): Show |
G | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 388 | 0.0026 | -46 | c.-29 others(55): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 168 | chr11 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246478730 | CACACCTG others(39): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0022 | 1 | 150 | 0.0067 | -46 | c.164 others(65): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
SNAPC4_chr9_136370571_136405170 | 136403370 | GGGGGAGA others(39): Show |
G | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01361.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0024a0002c0002others(3): Show | a0001c0004t0001a0001c0024t0001a0002c0002t0002others(3): Show | a0001c0004t0001g0012a0001c0024t0001g0201a0002c0002t0002g0022others(8): Show | 15 | 380 | 0.0395 | -46 | c.-32 others(57): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3201 | chr9 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1278050 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02258.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0060a0001c0001t0002g0027a0001c0001t0002g0065others(15): Show | 18 | 350 | 0.0514 | -46 | c.-49 others(67): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0218 | 1 | 258 | 0.0039 | -46 | c.732 others(61): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1005806 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01081.hp2 others(29): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(29): Show | 32 | 190 | 0.1684 | -46 | c.72+ others(63): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1255839 | TATAAATA others(39): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0088 | 1 | 190 | 0.0053 | -46 | c.100 others(65): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNW1_chr14_77712599_77766156 | 77747675 | GCCCGGCA others(39): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 366 | 0.0027 | -46 | c.330 others(63): Show |
SNW1 | ENSG00000100603.14 | transcript | ENST00000261531.12 | protein_coding | 3/13 | chr14 | TogoVar | ||||||
SNW1_chr14_77712599_77766156 | 77747695 | AGGAGGGA others(39): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0159a0001c0001t0001g0319others(1): Show | 6 | 366 | 0.0164 | -46 | c.330 others(63): Show |
SNW1 | ENSG00000100603.14 | transcript | ENST00000261531.12 | protein_coding | 3/13 | chr14 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12262036 | ACGTCCCC others(39): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 176 | 0.0057 | -46 | c.167 others(67): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SOBP_chr6_107485117_107666306 | 107656324 | AAAGAAAG others(39): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132a0001c0001t0002g0188 | 2 | 296 | 0.0068 | -46 | c.*4- others(61): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(39): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01952.hp2 HG02040.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0156a0002c0003t0001g0008others(3): Show | 6 | 364 | 0.0165 | -46 | c.*11 others(57): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7565630 | GGTGATGA others(39): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03017.hp1 HG03540.hp2 |
a0001a0004 | a0001c0001a0001c0009a0004c0044 | a0001c0001t0005a0001c0009t0051a0004c0044t0046 | a0001c0001t0005g0130a0001c0009t0051g0042a0004c0044t0046g0016 | 3 | 168 | 0.0179 | -46 | c.648 others(65): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |