| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RREB1_chr6_7102961_7256980 | 7103275 | TATATTAT others(55): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02897.hp2 others(6): Show |
a0002a0003a0005others(2): Show | a0002c0004a0003c0002a0003c0012others(3): Show | a0002c0004t0015a0003c0002t0002a0003c0002t0029others(4): Show | a0002c0004t0015g0044a0002c0004t0015g0203a0002c0004t0015g0204others(6): Show | 9 | 292 | 0.0308 | -62 | c.-50 others(73): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 4685 | chr6 | TogoVar | |||||||
| SAP130_chr2_127936222_128033059 | 127978251 | ACATTACC others(55): Show |
A | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 350 | 0.0029 | -62 | c.195 others(79): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
| SASH1_chr6_148337838_148557044 | 148339588 | GCTCTGTC others(55): Show |
G | upstream_gene_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0089 | 1 | 322 | 0.0031 | -62 | c.-34 others(73): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 3249 | chr6 | TogoVar | |||||||
| SBK2_chr19_55523611_55542133 | 55527588 | CACATACT others(55): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02523.hp1 NA18973.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0009a0005c0009t0043 | a0001c0001t0009g0015a0001c0001t0009g0084a0005c0009t0043g0215 | 5 | 434 | 0.0115 | -62 | c.*20 others(73): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 1022 | chr19 | TogoVar | |||||||
| SBK2_chr19_55523611_55542133 | 55527602 | CACACATG others(55): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0000a0001a0002others(7): Show | a0000c0003a0000c0007a0000c0017others(20): Show | a0000c0003t0001a0000c0003t0002a0000c0003t0003others(71): Show | a0000c0003t0001g0172a0000c0003t0001g0173a0000c0003t0001g0196others(247): Show | 374 | 434 | 0.8618 | -62 | c.*20 others(73): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 1008 | chr19 | TogoVar | |||||||
| SBK2_chr19_55523611_55542133 | 55527695 | ATGCACAC others(55): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 434 | 0.0023 | -62 | c.*19 others(73): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 915 | chr19 | TogoVar | |||||||
| SCFD1_chr14_30617319_30740850 | 30654572 | GCTGAGGC others(55): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 328 | 0.0031 | -62 | c.855 others(78): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| SCGB1C2_chr17_132569_144067 | 141072 | CTGGTGAG others(55): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 1 | 402 | 0.0025 | -62 | c.*21 others(73): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2006 | chr17 | TogoVar | |||||||
| SCHIP1_chr3_159268244_159902359 | 159626085 | CTTATATA others(55): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 100 | 0.0100 | -62 | c.64- others(81): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877021 | GTATATAT others(55): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0239 | 1 | 314 | 0.0032 | -62 | c.339 others(81): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877083 | CTATATAT others(55): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02080.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0002t0014a0001c0006t0006others(2): Show | a0001c0001t0002g0061a0001c0001t0002g0079a0001c0001t0002g0093others(18): Show | 21 | 314 | 0.0669 | -62 | c.339 others(81): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877320 | CTATATAT others(55): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02015.hp2 HG02027.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0065a0001c0001t0002g0066a0001c0001t0002g0104others(7): Show | 10 | 314 | 0.0319 | -62 | c.339 others(81): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SCNN1B_chr16_23297302_23386294 | 23379146 | CCTCCATT others(55): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 306 | 0.0033 | -62 | c.146 others(79): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SCNN1B_chr16_23297302_23386294 | 23379168 | GCCAGCCA others(55): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 | 1 | 306 | 0.0033 | -62 | c.146 others(79): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1296791 | ATGGCCCC others(55): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG04184.hp2 others(1): Show |
a0001a0013 | a0001c0012a0013c0042 | a0001c0012t0001a0013c0042t0001 | a0001c0012t0001g0127a0001c0012t0001g0130a0001c0012t0001g0131others(1): Show | 4 | 290 | 0.0138 | -62 | c.*51 others(73): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 4767 | chr1 | TogoVar | |||||||
| SDK2_chr17_73329384_73649445 | 73582191 | ACACACCA others(55): Show |
A | intron_variant | MODIFIER | HG03209.hp2 NA19043.hp1 |
a0001a0008 | a0001c0015a0008c0090 | a0001c0015t0004a0008c0090t0023 | a0001c0015t0004g0150a0008c0090t0023g0071 | 2 | 204 | 0.0098 | -62 | c.64+ others(79): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
| SDK2_chr17_73329384_73649445 | 73582292 | CGCAGGCA others(55): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0105 | 1 | 204 | 0.0049 | -62 | c.64+ others(79): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
| SEC23A_chr14_39026919_39108235 | 39094315 | TATGCATA others(55): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0028others(32): Show | 35 | 366 | 0.0956 | -62 | c.222 others(79): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
| SEC23A_chr14_39026919_39108235 | 39094317 | TGCATATA others(55): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG02809.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0021others(7): Show | 10 | 366 | 0.0273 | -62 | c.222 others(79): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
| SEMA5A_chr5_9030033_9551075 | 9164071 | AATTTATA others(55): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 HG02486.hp1 others(19): Show |
a0001a0003a0004 | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0012others(15): Show | a0001c0003t0005g0021a0001c0003t0006g0047a0001c0003t0006g0074others(19): Show | 22 | 134 | 0.1642 | -62 | c.127 others(81): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
| SGF29_chr16_28548920_28596790 | 28564604 | TGTATATA others(55): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 346 | 0.0029 | -62 | c.-16 others(81): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | chr16 | TogoVar | |||||||
| SH2D1A_chrX_124341563_124378160 | 124350370 | AATATATA others(55): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02922.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0078a0001c0001t0002g0077others(2): Show | 5 | 318 | 0.0157 | -62 | c.137 others(79): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SHC2_chr19_411589_466033 | 431942 | CAGATAGA others(55): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0187 | 1 | 212 | 0.0047 | -62 | c.111 others(81): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
| SHC2_chr19_411589_466033 | 432290 | CAGATAGA others(55): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0129a0001c0001t0003g0004a0001c0001t0003g0180 | 4 | 212 | 0.0189 | -62 | c.111 others(81): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
| SHC2_chr19_411589_466033 | 432464 | CAGATAGA others(55): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0070 | 1 | 212 | 0.0047 | -62 | c.111 others(81): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
| SHC2_chr19_411589_466033 | 457281 | CATCAGGC others(55): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 212 | 0.0047 | -62 | c.468 others(79): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
| SHROOM2_chrX_9781429_9954443 | 9792097 | AATAGAAT others(55): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024 | 1 | 256 | 0.0039 | -62 | c.165 others(79): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401438 | ACACCCGC others(55): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 242 | 0.0041 | -62 | c.*43 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4277 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401547 | CCCCGGCC others(55): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 242 | 0.0041 | -62 | c.*42 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4168 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401786 | ACCCCCGG others(55): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02622.hp1 NA19005.hp2 |
a0001a0003a0008 | a0001c0001a0003c0008a0008c0010 | a0001c0001t0001a0003c0008t0001a0008c0010t0001 | a0001c0001t0001g0054a0003c0008t0001g0024a0008c0010t0001g0053 | 3 | 242 | 0.0124 | -62 | c.*40 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3929 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401949 | ACCCCCGG others(55): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(55): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0003t0001a0003c0007t0001 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0026others(55): Show | 58 | 242 | 0.2397 | -62 | c.*38 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3766 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 402319 | CGACCCCC others(55): Show |
C | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0122 | 2 | 242 | 0.0083 | -62 | c.*35 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3396 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 402506 | GGCTCCAC others(55): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0121 | 1 | 242 | 0.0041 | -62 | c.*33 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3209 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 402828 | GCCCCGCT others(55): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG02970.hp1 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0125others(10): Show | 14 | 242 | 0.0579 | -62 | c.*30 others(73): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 2887 | chr11 | TogoVar | |||||||
| SIM1_chr6_100380009_100469921 | 100412575 | GAAAGAAA others(55): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 NA19063.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0028a0002c0002t0001 | a0001c0001t0028g0254a0002c0002t0001g0315a0002c0002t0001g0318 | 3 | 320 | 0.0094 | -62 | c.116 others(81): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
| SLC12A1_chr15_48201302_48309078 | 48240005 | TTATCCAT others(55): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG01952.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0003a0001c0001t0014a0001c0002t0002others(4): Show | a0001c0001t0003g0221a0001c0001t0003g0226a0001c0001t0003g0235others(10): Show | 13 | 266 | 0.0489 | -62 | c.121 others(81): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| SLC16A7_chr12_59591029_59794841 | 59672042 | GTATATAT others(55): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0047 | 1 | 260 | 0.0039 | -62 | c.-31 others(81): Show |
SLC16A7 | ENSG00000118596.12 | transcript | ENST00000547379.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| SLC16A9_chr10_59645764_59714850 | 59681783 | GATGTATA others(55): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 352 | 0.0028 | -62 | c.196 others(79): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
| SLC23A3_chr2_219156465_219175029 | 219159514 | TATATATA others(55): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 434 | 0.0023 | -62 | c.*23 others(73): Show |
SLC23A3 | ENSG00000213901.11 | transcript | ENST00000409878.8 | protein_coding | 1950 | chr2 | TogoVar | |||||||
| SLC28A1_chr15_84879662_84950798 | 84928554 | CTTTCTTT others(55): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0044 | a0006c0044t0001 | a0006c0044t0001g0006 | 1 | 396 | 0.0025 | -62 | c.108 others(81): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| SLC2A11_chr22_23852875_23891312 | 23881815 | GAGAGAGA others(55): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02486.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0014a0004c0004t0008g0029a0004c0004t0008g0065others(2): Show | 7 | 415 | 0.0169 | -62 | c.695 others(77): Show |
SLC2A11 | ENSG00000133460.20 | transcript | ENST00000316185.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| SLC38A10_chr17_81239811_81300307 | 81251194 | AGTGACAA others(55): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02109.hp2 others(10): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0012others(1): Show | a0001c0003t0001a0001c0003t0015a0001c0005t0001others(4): Show | a0001c0003t0001g0011a0001c0003t0001g0017a0001c0003t0001g0018others(10): Show | 13 | 214 | 0.0608 | -62 | c.206 others(79): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
| SLC39A12_chr10_17946918_18048285 | 18041667 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00609.hp1 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0045others(34): Show | 37 | 368 | 0.1005 | -62 | c.194 others(80): Show |
SLC39A12 | ENSG00000148482.12 | transcript | ENST00000377369.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141278479 | GGACAGGG others(55): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0163 | 1 | 188 | 0.0053 | -62 | c.-40 others(83): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| SLC48A1_chr12_47768238_47787751 | 47769648 | AGCAGCAA others(55): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 2 | 436 | 0.0046 | -62 | c.-36 others(73): Show |
SLC48A1 | ENSG00000211584.14 | transcript | ENST00000442218.3 | protein_coding | 3589 | chr12 | TogoVar | |||||||
| SLC5A4_chr22_32213464_32260347 | 32239536 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 302 | 0.0033 | -62 | c.478 others(77): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 5/14 | chr22 | TogoVar | |||||||
| SLC5A4_chr22_32213464_32260347 | 32239537 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0141 | 1 | 302 | 0.0033 | -62 | c.478 others(77): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 5/14 | chr22 | TogoVar | |||||||
| SLC6A12_chr12_185081_219157 | 192800 | GGCATCAT others(55): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(225): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0003a0001c0001t0001g0012a0001c0001t0001g0013others(211): Show | 228 | 420 | 0.5429 | -62 | c.153 others(79): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 14/15 | chr12 | TogoVar | |||||||
| SLC6A12_chr12_185081_219157 | 192895 | CGATACAA others(55): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0019 | a0002c0019t0002 | a0002c0019t0002g0027 | 1 | 420 | 0.0024 | -62 | c.153 others(79): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 14/15 | chr12 | TogoVar | |||||||
| SLC7A1_chr13_29504414_29600688 | 29558768 | TGAGGGGG others(55): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0066others(56): Show | 62 | 330 | 0.1879 | -62 | c.-11 others(81): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar |