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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLIT1_chr10_96993038_97190959 | 97166557 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18960.hp2 NA18963.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0026 a0001c0001t0002g0008 a0001c0004t0001g0024 |
3 | 120 | 0.0250 | 24 | c.198 others(41): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97166557 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0026 | a0001c0001t0001a0001c0026t0004 | a0001c0001t0001g0158 a0001c0026t0004g0091 |
2 | 119 | 0.0168 | 24 | c.198 others(41): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97166557 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 118 | 0.0085 | 24 | c.198 others(41): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97166569 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0147 | 1 | 95 | 0.0105 | 24 | c.198 others(41): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20307160 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01496.hp1 HG02132.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0036 a0001c0001t0001g0122 a0001c0001t0003g0103 others(6): Show |
9 | 70 | 0.1286 | 24 | c.395 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20307160 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18964.hp2 NA18998.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0009a0001c0001t0072a0001c0004t0009others(1): Show | a0001c0001t0009g0151 a0001c0001t0072g0150 a0001c0004t0009g0149 others(2): Show |
5 | 66 | 0.0758 | 24 | c.395 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20307160 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0015a0001c0002t0010 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 others(1): Show |
4 | 65 | 0.0615 | 24 | c.395 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20307231 | T | TTTCCTTC others(17): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18944.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0128 a0001c0002t0007g0176 |
2 | 46 | 0.0435 | 24 | c.395 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20415410 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0124 | 1 | 99 | 0.0101 | 24 | c.396 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20417436 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0166 | 1 | 140 | 0.0071 | 24 | c.396 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20417436 | G | GTGTATAT others(17): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0054 |
2 | 141 | 0.0142 | 24 | c.396 others(43): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472250 | A | ATATATCT others(17): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 203 | 0.0049 | 24 | c.467 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472278 | A | ATATATCG others(17): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0129 | 1 | 139 | 0.0072 | 24 | c.467 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472278 | A | ATATATCT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 139 | 0.0072 | 24 | c.467 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472297 | T | TATATATC others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0108 a0001c0001t0002g0087 a0001c0001t0002g0088 others(32): Show |
35 | 223 | 0.1570 | 24 | c.467 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472297 | T | TATATATC others(17): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0177 | 1 | 189 | 0.0053 | 24 | c.467 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518557 | G | GTGTGTAT others(17): Show |
intron_variant | MODIFIER | HG01361.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 a0001c0001t0004g0213 |
2 | 167 | 0.0120 | 24 | c.105 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518557 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 | 1 | 166 | 0.0060 | 24 | c.105 others(41): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168884549 | G | GATATATA others(17): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02145.hp2 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0009others(4): Show | a0001c0004t0005a0001c0006t0009a0001c0009t0003others(4): Show | a0001c0004t0005g0008 a0001c0006t0009g0113 a0001c0009t0003g0117 others(4): Show |
7 | 11 | 0.6364 | 24 | c.414 others(41): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168897646 | G | GCGTGCAC others(17): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01934.hp1 NA19012.hp2 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0001a0001c0041t0001 | a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0041t0001g0053 |
3 | 44 | 0.0682 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168907979 | T | TATAGAGA others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 34 | 0.0294 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168907979 | T | TATATAGA others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0010 | a0001c0010t0035 | a0001c0010t0035g0103 | 1 | 34 | 0.0294 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168967437 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02027.hp1 HG02486.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0024a0001c0006t0002others(9): Show | a0001c0001t0001g0041 a0001c0001t0024g0069 a0001c0006t0002g0039 others(10): Show |
13 | 22 | 0.5909 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168972336 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18974.hp1 |
a0001a0002 | a0001c0016a0002c0030 | a0001c0016t0008a0002c0030t0002 | a0001c0016t0008g0080 a0002c0030t0002g0033 |
2 | 130 | 0.0154 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168972337 | A | ATGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02896.hp2 HG02897.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0001c0032others(4): Show | a0001c0001t0001a0001c0013t0001a0001c0032t0001others(4): Show | a0001c0001t0001g0083 a0001c0013t0001g0091 a0001c0032t0001g0048 others(5): Show |
8 | 11 | 0.7273 | 24 | c.414 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168998702 | T | TCAAAACA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01993.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0010a0001c0016others(1): Show | a0001c0003t0007a0001c0010t0008a0001c0016t0008others(1): Show | a0001c0003t0007g0098 a0001c0010t0008g0068 a0001c0016t0008g0080 others(1): Show |
4 | 89 | 0.0449 | 24 | c.414 others(45): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169229642 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0011 | 1 | 52 | 0.0192 | 24 | c.341 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196875 | C | CTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA18959.hp2 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0010 a0002c0002t0001g0004 |
3 | 412 | 0.0073 | 24 | c.-13 others(35): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 492 | chr3 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196897 | G | GTCTCTCT others(17): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01070.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0002g0010 others(12): Show |
24 | 76 | 0.3158 | 24 | c.-13 others(35): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 514 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57869630 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18980.hp1 NA18990.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0043 others(2): Show |
5 | 67 | 0.0746 | 24 | c.123 others(43): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57885771 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0112 | 1 | 35 | 0.0286 | 24 | c.130 others(43): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906310 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0001g0218 others(3): Show |
6 | 125 | 0.0480 | 24 | c.150 others(43): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLURP2_chr8_142759338_142774828 | 142768155 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 444 | 0.0023 | 24 | c.52+ others(39): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10540096 | T | TTCCTTTC others(17): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0065 a0001c0001t0009g0109 |
2 | 82 | 0.0244 | 24 | c.28- others(41): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850382 | T | TATTATAC others(17): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0002 | 1 | 126 | 0.0079 | 24 | c.784 others(39): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850581 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0152 | a0001c0001t0152g0146 | 1 | 304 | 0.0033 | 24 | c.784 others(39): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67113076 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 176 | 0.0057 | 24 | c.206 others(43): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182994 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0253 | 1 | 290 | 0.0034 | 24 | c.871 others(41): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182998 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 237 | 0.0042 | 24 | c.871 others(41): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51042287 | G | GCCTCCCT others(17): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0031 | 1 | 185 | 0.0054 | 24 | c.-12 others(43): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136132699 | G | GCCGGCGC others(17): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0130 a0001c0001t0014g0131 |
2 | 292 | 0.0068 | 24 | c.-50 others(33): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 145 | chr5 | TogoVar | |||||||
SMAD6_chr15_66697236_66787849 | 66705905 | T | TGGGTCAG others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0312 a0001c0001t0010g0310 a0001c0001t0010g0311 others(1): Show |
4 | 334 | 0.0120 | 24 | c.817 others(41): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD6_chr15_66697236_66787849 | 66711803 | C | CAGGGCTG others(17): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0019 | 1 | 305 | 0.0033 | 24 | c.874 others(38): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0295 |
2 | 85 | 0.0235 | 24 | c.743 others(41): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0267 a0001c0001t0002g0255 a0001c0001t0003g0167 others(1): Show |
4 | 87 | 0.0460 | 24 | c.743 others(41): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCTCAC others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18957.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0202 a0001c0001t0002g0240 a0001c0001t0002g0254 |
3 | 86 | 0.0349 | 24 | c.743 others(41): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0220 |
2 | 85 | 0.0235 | 24 | c.743 others(41): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70855050 | T | TCATATAC others(17): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01255.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0164 others(14): Show |
17 | 60 | 0.2833 | 24 | c.790 others(41): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2176182 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0313 | 1 | 187 | 0.0053 | 24 | c.425 others(43): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11064669 | A | ATTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 NA19079.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0253 a0001c0011t0001g0276 |
2 | 178 | 0.0112 | 24 | c.*28 others(35): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 2397 | chr19 | TogoVar |