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 | 169142054 | AAAAAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0016others(4): Show | a0001c0001t0003a0001c0001t0025a0001c0015t0006others(5): Show | a0001c0001t0003g0099 a0001c0001t0025g0069 a0001c0015t0006g0070 others(5): Show |
8 | 132 | 0.0606 | -6 | c.413 others(25): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169189527 | GATATAT | G | intron_variant | MODIFIER | HG02976.hp1 NA19007.hp2 NA19012.hp1 |
a0001a0002 | a0001c0009a0001c0054a0002c0019 | a0001c0009t0003a0001c0054t0002a0002c0019t0001 | a0001c0009t0003g0117 a0001c0054t0002g0044 a0002c0019t0001g0011 |
3 | 132 | 0.0227 | -6 | c.413 others(23): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169192423 | CTGTGTG | C | intron_variant | MODIFIER | HG00408.hp2 HG01993.hp2 HG02896.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0011a0002c0012 | a0001c0003t0007a0002c0011t0005a0002c0012t0004 | a0001c0003t0007g0098 a0002c0011t0005g0065 a0002c0011t0005g0075 others(1): Show |
4 | 132 | 0.0303 | -6 | c.413 others(23): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169203351 | GCACACA | G | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG01993.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(9): Show | a0001c0001t0001g0041 a0001c0001t0001g0081 a0001c0001t0003g0122 others(11): Show |
14 | 132 | 0.1061 | -6 | c.342 others(23): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169207370 | TACACAC | T | intron_variant | MODIFIER | HG01081.hp2 HG02071.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0004 | a0001c0014a0002c0005a0004c0025others(1): Show | a0001c0014t0009a0002c0005t0001a0002c0005t0027others(2): Show | a0001c0014t0009g0121 a0002c0005t0001g0016 a0002c0005t0027g0030 others(2): Show |
5 | 132 | 0.0379 | -6 | c.342 others(25): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169229642 | TTCTCTC | T | intron_variant | MODIFIER | HG00408.hp2 HG01167.hp2 HG01433.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0001a0001c0006t0002a0001c0010t0033others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0034 others(7): Show |
10 | 132 | 0.0758 | -6 | c.341 others(25): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169242595 | GAGAAGA | G | intron_variant | MODIFIER | HG02015.hp1 HG02622.hp2 HG04115.hp2 others(1): Show |
a0002a0003a0009 | a0002c0012a0002c0021a0003c0056others(1): Show | a0002c0012t0031a0002c0021t0026a0003c0056t0001others(1): Show | a0002c0012t0031g0077 a0002c0021t0026g0055 a0003c0056t0001g0078 others(1): Show |
4 | 132 | 0.0303 | -6 | c.341 others(23): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 3/35 | chr5 | TogoVar | |||||||
SLITRK2_chrX_145812829_145834856 | 145821071 | CCACACA | C | intron_variant | MODIFIER | HG03195.hp1 HG03471.hp1 HG06807.hp2 others(1): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0003a0001c0005t0023a0002c0002t0003 | a0001c0005t0003g0019 a0001c0005t0003g0042 a0001c0005t0023g0019 others(1): Show |
4 | 326 | 0.0123 | -6 | c.-72 others(23): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLITRK2_chrX_145812829_145834856 | 145821121 | TCACTCA | T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0065 | 1 | 326 | 0.0031 | -6 | c.-72 others(23): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLITRK2_chrX_145812829_145834856 | 145831225 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG04228.hp1 NA19240.hp1 |
a0001 | a0001c0006 | a0001c0006t0004a0001c0006t0037 | a0001c0006t0004g0014 a0001c0006t0004g0021 a0001c0006t0037g0080 |
3 | 326 | 0.0092 | -6 | c.*62 others(17): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 1370 | chrX | TogoVar | |||||||
SLITRK2_chrX_145812829_145834856 | 145833559 | ATTAGTT | A | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | -6 | c.*85 others(17): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 3704 | chrX | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165187211 | AGTGTGT | A | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG02572.hp1 HG03516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020a0001c0001t0026 | a0001c0001t0008g0015 a0001c0001t0008g0105 a0001c0001t0020g0034 others(1): Show |
9 | 414 | 0.0217 | -6 | c.*68 others(15): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 2/2 | 680 | chr3 | TogoVar | ||||||
SLITRK3_chr3_165181720_165201384 | 165196957 | TCTCTCG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01515.hp2 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0001t0004g0007 |
3 | 414 | 0.0073 | -6 | c.-14 others(17): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 574 | chr3 | TogoVar | |||||||
SLITRK4_chrX_143617790_143641101 | 143628091 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00733.hp2 others(16): Show |
a0001a0003a0006 | a0001c0001a0003c0009a0006c0004 | a0001c0001t0015a0001c0001t0038a0001c0001t0040others(9): Show | a0001c0001t0015g0035 a0001c0001t0015g0179 a0001c0001t0015g0185 others(14): Show |
19 | 335 | 0.0567 | -6 | c.*49 others(15): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 2/2 | 498 | chrX | TogoVar | ||||||
SLITRK4_chrX_143617790_143641101 | 143635481 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG03669.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0003a0001c0001t0015a0001c0001t0077others(3): Show | a0001c0001t0003g0184 a0001c0001t0015g0185 a0001c0001t0077g0165 others(3): Show |
6 | 335 | 0.0179 | -6 | c.-51 others(21): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 1/1 | chrX | TogoVar | |||||||
SLITRK4_chrX_143617790_143641101 | 143640765 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(157): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(54): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(118): Show |
160 | 335 | 0.4776 | -6 | c.-50 others(17): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 4665 | chrX | TogoVar | |||||||
SLITRK4_chrX_143617790_143641101 | 143640834 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02300.hp1 NA18963.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0027 others(9): Show |
13 | 335 | 0.0388 | -6 | c.-51 others(17): Show |
SLITRK4 | ENSG00000179542.16 | transcript | ENST00000356928.2 | protein_coding | 4734 | chrX | TogoVar | |||||||
SLITRK5_chr13_87666371_87684616 | 87672854 | GGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(33): Show |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012 a0001c0001t0002g0009 a0001c0001t0002g0023 others(14): Show |
36 | 404 | 0.0891 | -6 | c.-9+ others(19): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLITRK5_chr13_87666371_87684616 | 87674007 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp1 others(176): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0006a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(52): Show |
179 | 404 | 0.4431 | -6 | c.-8- others(21): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57774509 | AATTATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(216): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0287 others(216): Show |
219 | 310 | 0.7065 | -6 | c.198 others(25): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57821912 | TTCCTCC | T | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 others(1): Show |
4 | 310 | 0.0129 | -6 | c.199 others(23): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57853955 | TTATATA | T | intron_variant | MODIFIER | NA18977.hp1 NA18981.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 a0001c0001t0002g0050 a0001c0001t0002g0072 |
3 | 310 | 0.0097 | -6 | c.520 others(23): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57868795 | AATATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0032others(1): Show | a0001c0001t0001g0136 a0001c0001t0003g0182 a0001c0001t0003g0192 others(2): Show |
5 | 310 | 0.0161 | -6 | c.123 others(25): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906674 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(112): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(112): Show |
115 | 310 | 0.3710 | -6 | c.150 others(25): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLN_chr11_107702378_107717056 | 107705830 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(195): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(17): Show |
198 | 410 | 0.4829 | -6 | c.*19 others(17): Show |
SLN | ENSG00000170290.4 | transcript | ENST00000305991.3 | protein_coding | 1547 | chr11 | TogoVar | |||||||
SLPI_chr20_45247239_45259564 | 45254198 | TGAGAGA | T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0002g0026 |
5 | 398 | 0.0126 | -6 | c.85+ others(19): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58886218 | AGTGTGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01168.hp2 HG01175.hp2 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0085 others(17): Show |
20 | 386 | 0.0518 | -6 | c.283 others(23): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58907619 | TCAACAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(109): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0106 a0001c0001t0002g0013 a0001c0001t0002g0014 others(104): Show |
112 | 386 | 0.2902 | -6 | c.561 others(23): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 5/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58915191 | AAAAAAC | A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG01358.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 others(33): Show |
37 | 386 | 0.0959 | -6 | c.316 others(23): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142765968 | AAAAAAC | A | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0064 a0001c0001t0002g0036 a0001c0001t0002g0074 others(5): Show |
10 | 446 | 0.0224 | -6 | c.53- others(19): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30198058 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02129.hp2 NA18979.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0027 a0001c0001t0001g0030 |
7 | 194 | 0.0361 | -6 | c.*59 others(15): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 498 | chr16 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10495825 | AACATTT | A | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0059 | a0001c0001t0014g0002 a0001c0001t0014g0004 a0001c0001t0014g0010 others(1): Show |
4 | 266 | 0.0150 | -6 | c.27+ others(23): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44978351 | ACAAAAC | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 others(6): Show |
10 | 334 | 0.0299 | -6 | c.*15 others(17): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1379 | chr21 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145515134 | CTGTGTG | C | intron_variant | MODIFIER | HG01981.hp2 HG02148.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0208 a0001c0001t0002g0012 a0001c0001t0005g0042 others(1): Show |
5 | 308 | 0.0162 | -6 | c.400 others(21): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145528060 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01081.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0052 a0001c0001t0001g0078 a0001c0001t0001g0093 others(47): Show |
53 | 308 | 0.1721 | -6 | c.401 others(25): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47820896 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG01928.hp2 HG01978.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0137a0001c0001t0192others(1): Show | a0001c0001t0009g0081 a0001c0001t0009g0083 a0001c0001t0009g0084 others(3): Show |
6 | 310 | 0.0194 | -6 | c.*20 others(19): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 20925 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47847700 | CAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0255a0001c0002t0247a0001c0002t0248others(6): Show | a0001c0001t0255g0096 a0001c0002t0247g0014 a0001c0002t0248g0303 others(6): Show |
9 | 310 | 0.0290 | -6 | c.997 others(21): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 8/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47849483 | GTATGTA | G | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0202a0001c0001t0203a0001c0001t0204others(9): Show | a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 others(9): Show |
12 | 310 | 0.0387 | -6 | c.785 others(21): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47849487 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(182): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(148): Show | a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0206 others(182): Show |
185 | 310 | 0.5968 | -6 | c.785 others(21): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47879495 | CGTGTGT | C | 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 | -6 | c.237 others(23): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47882041 | CTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01109.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(35): Show | a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0149 others(47): Show |
50 | 310 | 0.1613 | -6 | c.237 others(25): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47885132 | TACACAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(36): Show | a0001c0001t0003g0140 a0001c0001t0003g0146 a0001c0001t0003g0149 others(44): Show |
47 | 310 | 0.1516 | -6 | c.236 others(25): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47919469 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0016a0001c0001t0023others(16): Show | a0001c0001t0013g0286 a0001c0001t0016g0209 a0001c0001t0023g0092 others(16): Show |
19 | 310 | 0.0613 | -6 | c.-54 others(25): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67157102 | GTTACTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00642.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0111 a0001c0001t0002g0106 a0001c0001t0002g0215 others(17): Show |
20 | 310 | 0.0645 | -6 | c.207 others(23): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67162946 | GTGATGA | G | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0267 a0001c0001t0004g0005 a0001c0001t0017g0043 |
3 | 310 | 0.0097 | -6 | c.207 others(23): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51083997 | TGCGCAC | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015a0001c0001t0042others(1): Show | a0001c0001t0012g0016 a0001c0001t0012g0017 a0001c0001t0012g0018 others(7): Show |
10 | 302 | 0.0331 | -6 | c.*55 others(17): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 12/12 | 5535 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD5_chr5_136127845_136187733 | 136139126 | CTCTGTG | C | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0030 | a0001c0001t0007g0001 a0001c0001t0007g0070 a0001c0001t0030g0001 |
7 | 294 | 0.0238 | -6 | c.-24 others(25): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136176457 | CAAAAAA | C | intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0085 a0001c0001t0002g0091 a0001c0001t0003g0047 others(3): Show |
6 | 294 | 0.0204 | -6 | c.125 others(23): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136183496 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02083.hp1 HG02129.hp1 HG02155.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0028 | a0001c0001t0003g0015 a0001c0001t0006g0010 a0001c0001t0006g0103 others(5): Show |
9 | 294 | 0.0306 | -6 | c.*60 others(17): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 764 | chr5 | TogoVar | |||||||
SMAD6_chr15_66697236_66787849 | 66718111 | CGTGTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0031 | a0001c0001t0001g0194 a0001c0001t0007g0266 a0001c0001t0031g0265 |
3 | 336 | 0.0089 | -6 | c.952 others(23): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |