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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLIT3_chr5_168656740_169306139 | 169079565 | AGGAAG | A | intron_variant | MODIFIER | HG03098.hp1 HG03225.hp1 |
a0002a0013 | a0002c0005a0013c0022 | a0002c0005t0003a0013c0022t0023 | a0002c0005t0003g0128 a0013c0022t0023g0004 |
2 | 132 | 0.0152 | -5 | c.413 others(26): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169159503 | CGGTAG | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 NA18747.hp1 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0016a0001c0038a0002c0018others(2): Show | a0001c0016t0008a0001c0038t0013a0002c0018t0007others(2): Show | a0001c0016t0008g0080 a0001c0038t0013g0021 a0002c0018t0007g0100 others(2): Show |
5 | 132 | 0.0379 | -5 | c.413 others(24): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169179276 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02486.hp1 others(8): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0013a0001c0026others(7): Show | a0001c0004t0005a0001c0004t0019a0001c0013t0001others(8): Show | a0001c0004t0005g0008 a0001c0004t0019g0102 a0001c0013t0001g0094 others(8): Show |
11 | 132 | 0.0833 | -5 | c.413 others(24): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169257533 | CTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
a0001a0002a0015 | a0001c0001a0001c0004a0001c0049others(3): Show | a0001c0001t0001a0001c0004t0014a0001c0049t0011others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0083 a0001c0004t0014g0002 others(4): Show |
7 | 132 | 0.0530 | -5 | c.198 others(22): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 1/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169305684 | ATTTCT | A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG03225.hp1 others(1): Show |
a0001a0002a0004 | a0001c0043a0002c0005a0002c0051others(1): Show | a0001c0043t0034a0002c0005t0003a0002c0051t0003others(1): Show | a0001c0043t0034g0130 a0002c0005t0003g0128 a0002c0051t0003g0127 others(1): Show |
4 | 132 | 0.0303 | -5 | c.-49 others(16): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4546 | chr5 | TogoVar | |||||||
SLITRK2_chrX_145812829_145834856 | 145831225 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02451.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0006t0004 | a0001c0001t0004g0018 a0001c0001t0004g0074 a0001c0001t0004g0079 others(1): Show |
4 | 326 | 0.0123 | -5 | c.*62 others(16): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 1370 | chrX | TogoVar | |||||||
SLITRK4_chrX_143617790_143641101 | 143628091 | CTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0112 | a0001c0001t0068g0063 a0001c0001t0112g0240 |
2 | 335 | 0.0060 | -5 | c.*49 others(14): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 2/2 | 499 | chrX | TogoVar | ||||||
SLITRK4_chrX_143617790_143641101 | 143639947 | CAAAAT | C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0008 | 1 | 335 | 0.0030 | -5 | c.-42 others(16): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 3847 | chrX | TogoVar | |||||||
SLITRK4_chrX_143617790_143641101 | 143640770 | ACACAC | A | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 335 | 0.0030 | -5 | c.-50 others(16): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 4670 | chrX | TogoVar | |||||||
SLITRK5_chr13_87666371_87684616 | 87668847 | TTAATA | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00733.hp2 HG01074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0030 a0001c0001t0003g0035 others(5): Show |
10 | 404 | 0.0248 | -5 | c.-33 others(16): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 2523 | chr13 | TogoVar | |||||||
SLITRK5_chr13_87666371_87684616 | 87680128 | TTTCTC | T | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 others(1): Show |
7 | 404 | 0.0173 | -5 | c.*18 others(16): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 513 | chr13 | TogoVar | |||||||
SLK_chr10_103962140_104034233 | 103974826 | ATTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00621.hp2 others(71): Show |
a0001a0003a0008others(2): Show | a0001c0011a0003c0003a0003c0012others(4): Show | a0001c0011t0006a0003c0003t0001a0003c0003t0003others(9): Show | a0001c0011t0006g0171 a0001c0011t0006g0172 a0003c0003t0001g0160 others(60): Show |
74 | 376 | 0.1968 | -5 | c.150 others(22): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLK_chr10_103962140_104034233 | 103982043 | GGTTAA | G | intron_variant | MODIFIER | NA18949.hp1 NA18963.hp1 NA19000.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 |
3 | 376 | 0.0080 | -5 | c.151 others(22): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57754308 | CTTATT | C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03453.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0192 |
3 | 310 | 0.0097 | -5 | c.-31 others(16): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2000 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57771143 | TCTCCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(223): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(223): Show |
226 | 310 | 0.7290 | -5 | c.198 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57853956 | TATATA | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0025others(3): Show | a0001c0001t0001g0295 a0001c0001t0004g0087 a0001c0001t0025g0003 others(5): Show |
8 | 310 | 0.0258 | -5 | c.520 others(22): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57866273 | AAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(111): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0142 a0001c0001t0003g0123 a0001c0001t0003g0124 others(111): Show |
114 | 310 | 0.3677 | -5 | c.123 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57880169 | TTTTTG | T | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01928.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0293 a0001c0001t0002g0027 a0001c0001t0002g0028 others(17): Show |
20 | 310 | 0.0645 | -5 | c.130 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906305 | TTTTTC | T | intron_variant | MODIFIER | HG01358.hp2 HG01361.hp2 HG01433.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0080 others(27): Show |
30 | 310 | 0.0968 | -5 | c.150 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906673 | AAATAT | A | intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015a0001c0001t0036 | a0001c0001t0004g0075 a0001c0001t0004g0081 a0001c0001t0004g0108 others(3): Show |
6 | 310 | 0.0194 | -5 | c.150 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906675 | ATATAT | A | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01433.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0136 a0001c0001t0004g0080 a0001c0001t0004g0084 others(18): Show |
21 | 310 | 0.0677 | -5 | c.150 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57924035 | ATGGTT | A | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0300 a0001c0001t0010g0301 a0001c0001t0010g0302 others(1): Show |
4 | 310 | 0.0129 | -5 | c.244 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57933462 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02280.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0016 | a0001c0001t0004g0086 a0001c0001t0012g0109 a0001c0001t0016g0005 others(2): Show |
5 | 310 | 0.0161 | -5 | c.*61 others(16): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 3460 | chr3 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58895464 | GAAGAA | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0103 others(6): Show |
9 | 386 | 0.0233 | -5 | c.122 others(22): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58922610 | ATATAT | A | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0131 a0001c0001t0002g0013 others(2): Show |
6 | 386 | 0.0155 | -5 | c.251 others(22): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142765969 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0024 others(26): Show |
106 | 446 | 0.2377 | -5 | c.53- others(18): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30190402 | ATATAT | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02145.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0029 |
3 | 194 | 0.0155 | -5 | c.-36 others(16): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 3472 | chr16 | TogoVar | |||||||
SLX1B_chr16_29449533_29463219 | 29450742 | CAAAAA | C | upstream_gene_variant | MODIFIER | NA18984.hp2 NA18995.hp2 NA19067.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 5 | 174 | 0.0287 | -5 | c.-40 others(16): Show |
SLX1B | ENSG00000181625.18 | transcript | ENST00000330181.10 | protein_coding | 3790 | chr16 | TogoVar | |||||||
SLX1B_chr16_29449533_29463219 | 29451060 | TTATAA | T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
4 | 174 | 0.0230 | -5 | c.-36 others(16): Show |
SLX1B | ENSG00000181625.18 | transcript | ENST00000330181.10 | protein_coding | 3472 | chr16 | TogoVar | |||||||
SLX1B_chr16_29449533_29463219 | 29451065 | ATATAT | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp2 HG02027.hp2 others(37): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(5): Show |
40 | 174 | 0.2299 | -5 | c.-36 others(16): Show |
SLX1B | ENSG00000181625.18 | transcript | ENST00000330181.10 | protein_coding | 3467 | chr16 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10431527 | AAAACC | A | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG02040.hp2 others(11): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | 266 | 0.0526 | -5 | c.-39 others(16): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 3777 | chr20 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10540091 | CTTCCT | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01168.hp1 others(37): Show |
a0001a0009 | a0001c0001a0009c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0059 a0001c0001t0001g0174 others(37): Show |
40 | 266 | 0.1504 | -5 | c.28- others(22): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10541140 | CCTTTA | C | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0001t0035a0001c0006t0024 | a0001c0001t0006g0012 a0001c0001t0035g0045 a0001c0006t0024g0049 others(1): Show |
4 | 266 | 0.0150 | -5 | c.28- others(22): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10616386 | AAAATG | A | intron_variant | MODIFIER | HG01099.hp2 HG01496.hp1 HG01891.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0033a0001c0001t0034others(1): Show | a0001c0001t0006g0012 a0001c0001t0006g0048 a0001c0001t0006g0050 others(7): Show |
10 | 266 | 0.0376 | -5 | c.406 others(22): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4_chr16_3576181_3616606 | 3579189 | AGCCCC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(199): Show |
a0001a0002a0003others(29): Show | a0001c0003a0001c0032a0001c0035others(45): Show | a0001c0003t0001a0001c0003t0013a0001c0032t0001others(52): Show | a0001c0003t0001g0007 a0001c0003t0001g0010 a0001c0003t0001g0011 others(148): Show |
202 | 396 | 0.5101 | -5 | c.*31 others(16): Show |
SLX4 | ENSG00000188827.12 | transcript | ENST00000294008.4 | protein_coding | 1991 | chr16 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44968029 | GGGCCC | G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02258.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0143 others(4): Show |
9 | 334 | 0.0270 | -5 | c.500 others(20): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 4/5 | chr21 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145477165 | TATTTA | T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0165 others(10): Show |
13 | 308 | 0.0422 | -5 | c.-50 others(16): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 4687 | chr4 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145489478 | TAAATA | T | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01243.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0029 a0001c0001t0001g0146 a0001c0001t0004g0149 others(54): Show |
59 | 308 | 0.1916 | -5 | c.-17 others(24): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145514222 | TACTTA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0122 others(73): Show |
79 | 308 | 0.2565 | -5 | c.-17 others(22): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145522654 | GTGTTT | G | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0016 a0001c0001t0008g0051 a0001c0001t0008g0155 others(2): Show |
6 | 308 | 0.0195 | -5 | c.400 others(22): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145550089 | CTTAGT | C | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0028 | a0001c0001t0015g0076 a0001c0001t0015g0147 a0001c0001t0015g0148 others(1): Show |
4 | 308 | 0.0130 | -5 | c.997 others(22): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145561033 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01175.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0013a0001c0001t0026others(2): Show | a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0053 others(32): Show |
37 | 308 | 0.1201 | -5 | c.*31 others(16): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1858 | chr4 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47828935 | TAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0248a0001c0002t0249a0001c0002t0250others(4): Show | a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 others(4): Show |
7 | 310 | 0.0226 | -5 | c.*12 others(18): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 12887 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850266 | ATATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0247a0001c0002t0248a0001c0002t0249others(5): Show | a0001c0002t0247g0014 a0001c0002t0248g0303 a0001c0002t0249g0306 others(5): Show |
8 | 310 | 0.0258 | -5 | c.784 others(22): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850844 | ATATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0048a0001c0001t0049others(10): Show | a0001c0001t0015g0218 a0001c0001t0048g0182 a0001c0001t0049g0186 others(10): Show |
13 | 310 | 0.0419 | -5 | c.784 others(20): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67073664 | CATTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(153): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0084 others(152): Show |
156 | 310 | 0.5032 | -5 | c.206 others(22): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182986 | TAAAAA | T | intron_variant | MODIFIER | HG02027.hp2 HG03471.hp1 HG03834.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0128 others(7): Show |
10 | 310 | 0.0323 | -5 | c.871 others(22): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182997 | AAAAAT | A | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01074.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0096 others(28): Show |
31 | 310 | 0.1000 | -5 | c.871 others(22): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67183029 | ATATTT | A | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG03098.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0023others(3): Show | a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0010g0120 others(4): Show |
7 | 310 | 0.0226 | -5 | c.871 others(22): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51079635 | GCCATC | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02970.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0012 a0001c0001t0015g0013 a0001c0001t0015g0015 |
3 | 302 | 0.0099 | -5 | c.*11 others(16): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 12/12 | 1169 | chr18 | TogoVar |