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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0287 |
2 | 4 | 0.5000 | 48 | c.274 others(65): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 3 | 0.3333 | 48 | c.274 others(65): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403463 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 328 | 0.0030 | 48 | c.*43 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3490 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403470 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02451.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008 | a0001c0001t0001g0139 a0001c0004t0008g0162 |
2 | 169 | 0.0118 | 48 | c.*43 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3483 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403532 | G | GGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 HG01433.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0092 a0001c0001t0002g0167 a0001c0001t0002g0197 others(2): Show |
5 | 223 | 0.0224 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3421 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403535 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 319 | 0.0031 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3418 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403559 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0038 a0001c0001t0003g0058 |
2 | 293 | 0.0068 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3394 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403562 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 NA18988.hp1 NA18998.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0001 | a0001c0001t0002g0170 a0001c0001t0002g0189 a0003c0005t0001g0126 |
3 | 295 | 0.0102 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3391 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403568 | A | AGAAGAAG others(41): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 315 | 0.0032 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3385 | chr11 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403570 | A | AAGAAGAA others(41): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 328 | 0.0030 | 48 | c.*42 others(59): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3383 | chr11 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8322331 | G | GGTGGATG others(41): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02451.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0002t0001g0039 a0001c0003t0001g0139 a0001c0003t0001g0140 others(8): Show |
13 | 327 | 0.0398 | 48 | c.-24 others(65): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SLC45A1_chr1_8313114_8349165 | 8322332 | A | ATGGGTGG others(41): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18988.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0194 a0001c0002t0001g0203 a0001c0002t0002g0220 others(1): Show |
4 | 208 | 0.0192 | 48 | c.-24 others(65): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203505 | G | GGAGAGAG others(41): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG03471.hp2 |
a0001a0002 | a0001c0017a0002c0001a0002c0005 | a0001c0017t0029a0002c0001t0001a0002c0005t0012 | a0001c0017t0029g0054 a0002c0001t0001g0028 a0002c0005t0012g0113 |
3 | 73 | 0.0411 | 48 | c.*80 others(59): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3668 | chr8 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26680350 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0005a0001c0032 | a0001c0005t0011a0001c0032t0070 | a0001c0005t0011g0007 a0001c0005t0011g0008 a0001c0005t0011g0045 others(1): Show |
6 | 309 | 0.0194 | 48 | c.147 others(65): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | |||||||
SLC5A4_chr22_32213464_32260347 | 32213586 | A | ATATACAT others(41): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0012a0006c0008 | a0001c0001t0001a0001c0012t0001a0006c0008t0001 | a0001c0001t0001g0168 a0001c0012t0001g0020 a0006c0008t0001g0136 |
4 | 140 | 0.0286 | 48 | c.*49 others(59): Show |
SLC5A4 | ENSG00000100191.6 | transcript | ENST00000266086.6 | protein_coding | 4877 | chr22 | TogoVar | |||||||
SLC5A9_chr1_48217716_48253638 | 48244728 | A | ATTATATT others(41): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 409 | 0.0024 | 48 | c.183 others(67): Show |
SLC5A9 | ENSG00000117834.13 | transcript | ENST00000438567.7 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
SLC6A15_chr12_84854491_84917799 | 84910927 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0187 | 1 | 204 | 0.0049 | 48 | c.-18 others(67): Show |
SLC6A15 | ENSG00000072041.18 | transcript | ENST00000266682.10 | protein_coding | 1/11 | chr12 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215583 | A | ACCCCCAC others(41): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02970.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0007 a0001c0001t0002g0288 a0001c0002t0001g0121 |
5 | 310 | 0.0161 | 48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215583 | A | ACCCCCAC others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0068 others(20): Show |
24 | 329 | 0.0729 | 48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215607 | G | GCCCCCAC others(41): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 369 | 0.0027 | 48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215607 | G | GCCCCCAC others(41): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 369 | 0.0027 | 48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33215631 | C | CCCCCCAC others(41): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 315 | 0.0032 | 48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
SLC7A7_chr14_22768222_22820435 | 22812773 | C | CTATATAT others(41): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0368 | 1 | 113 | 0.0088 | 48 | c.499 others(63): Show |
SLC7A7 | ENSG00000155465.21 | transcript | ENST00000674313.1 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40200241 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 223 | 0.0045 | 48 | c.180 others(69): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SLC9A2_chr2_102614553_102716355 | 102695800 | T | TATAATAT others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0028 | a0001c0001t0005g0169 a0001c0001t0028g0178 |
2 | 342 | 0.0058 | 48 | c.158 others(65): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
SLC9A4_chr2_102468226_102538972 | 102510272 | C | CAGATACA others(41): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 167 | 0.0060 | 48 | c.148 others(67): Show |
SLC9A4 | ENSG00000180251.5 | transcript | ENST00000295269.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC9B2_chr4_103017253_103081761 | 103046651 | A | ATTTTGTG others(41): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02280.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0003g0114 others(4): Show |
7 | 241 | 0.0290 | 48 | c.889 others(63): Show |
SLC9B2 | ENSG00000164038.16 | transcript | ENST00000394785.9 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
SLC9C1_chr3_112135898_112299216 | 112271393 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 147 | 0.0068 | 48 | c.614 others(65): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 6/28 | chr3 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(41): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03225.hp1 NA20129.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0070 a0004c0006t0001g0072 a0004c0006t0001g0085 |
3 | 72 | 0.0417 | 48 | c.*21 others(59): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(41): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 NA18522.hp1 NA18954.hp2 others(6): Show |
a0001a0002a0014 | a0001c0001a0002c0003a0014c0015 | a0001c0001t0002a0002c0003t0002a0002c0003t0003others(1): Show | a0001c0001t0002g0030 a0002c0003t0002g0209 a0002c0003t0003g0006 others(6): Show |
9 | 78 | 0.1154 | 48 | c.*21 others(59): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20918434 | G | GTATGTGT others(41): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0067 | 1 | 70 | 0.0143 | 48 | c.*21 others(59): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 1524 | chr12 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 91957043 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02559.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0017a0001c0002t0014a0001c0011t0047others(1): Show | a0001c0001t0017g0066 a0001c0002t0014g0171 a0001c0002t0014g0172 others(2): Show |
5 | 179 | 0.0279 | 48 | c.646 others(67): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62666114 | C | CGCCCCCC others(41): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 422 | 0.0047 | 48 | c.127 others(65): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
SLCO4A1_chr20_62637503_62677293 | 62666114 | C | CGCCCCCC others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 421 | 0.0024 | 48 | c.127 others(65): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169079625 | A | AGAGGAGG others(41): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0007a0002c0002a0002c0018others(1): Show | a0001c0007t0003a0002c0002t0019a0002c0018t0019others(1): Show | a0001c0007t0003g0124 a0002c0002t0019g0105 a0002c0018t0019g0126 others(1): Show |
4 | 95 | 0.0421 | 48 | c.413 others(69): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169079819 | A | AGGGAGGA others(41): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0016 | 1 | 3 | 0.3333 | 48 | c.413 others(69): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165183637 | T | TACATGTA others(41): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0140 | 1 | 287 | 0.0035 | 48 | c.*42 others(59): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 3082 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47747440 | A | AAAATATA others(41): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 18 | 0.0556 | 48 | c.316 others(65): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2114959 | T | TAAAATAA others(41): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA18522.hp1 |
a0004a0007 | a0004c0004a0007c0007 | a0004c0004t0001a0004c0004t0008a0007c0007t0001 | a0004c0004t0001g0058 a0004c0004t0008g0055 a0007c0007t0001g0023 |
3 | 96 | 0.0313 | 48 | c.335 others(69): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39619616 | A | AAATATAA others(41): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0290 | 1 | 335 | 0.0030 | 48 | c.-35 others(67): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168592576 | G | GGGCATCT others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01167.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 others(14): Show |
17 | 169 | 0.1006 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593313 | G | GCCGAGCT others(41): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03130.hp2 HG03209.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0002a0001c0011t0006 | a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0011t0006g0167 |
3 | 166 | 0.0181 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594316 | G | GGGCATCT others(41): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18971.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0092 a0001c0001t0001g0143 a0001c0001t0001g0144 others(1): Show |
4 | 149 | 0.0268 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594669 | G | GAGGCCTC others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0162 | 1 | 177 | 0.0056 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594809 | C | CCTCCTCA others(41): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 177 | 0.0056 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594832 | G | GGGCATCT others(41): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0114 |
2 | 83 | 0.0241 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594832 | G | GGGCATCT others(41): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18944.hp2 NA19088.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0097 a0001c0002t0002g0014 a0001c0002t0002g0019 others(1): Show |
4 | 85 | 0.0471 | 48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMPD1_chr11_6385474_6399996 | 6387203 | C | CTGGGCGA others(41): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp1 HG00741.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(12): Show |
43 | 376 | 0.1144 | 48 | c.-33 others(59): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3270 | chr11 | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70391022 | C | CACACACA others(41): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0053 |
5 | 350 | 0.0143 | 48 | c.*11 others(59): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 779 | chr4 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33039536 | C | CATATATA others(41): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 NA19009.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0010 a0001c0001t0005g0044 a0001c0001t0005g0304 |
3 | 303 | 0.0099 | 48 | c.*77 others(59): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2228 | chr9 | TogoVar |