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 | 168720368 | TCACCCCC others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG01255.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0001c0041others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0072 others(13): Show |
16 | 132 | 0.1212 | -9 | c.248 others(28): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 23/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168735696 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0011a0002c0018 | a0002c0011t0005a0002c0018t0019 | a0002c0011t0005g0065 a0002c0011t0005g0075 a0002c0018t0019g0126 |
3 | 132 | 0.0227 | -9 | c.227 others(30): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169079718 | AGAGGAGG others(2): Show |
A | intron_variant | MODIFIER | NA19005.hp1 NA19012.hp1 |
a0001a0002 | a0001c0054a0002c0018 | a0001c0054t0002a0002c0018t0007 | a0001c0054t0002g0044 a0002c0018t0007g0100 |
2 | 127 | 0.0157 | -9 | c.413 others(30): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169084453 | GATTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01109.hp1 others(1): Show |
a0001a0002 | a0001c0009a0001c0016a0002c0005 | a0001c0009t0003a0001c0016t0008a0002c0005t0003others(1): Show | a0001c0009t0003g0117 a0001c0016t0008g0080 a0002c0005t0003g0114 others(1): Show |
4 | 132 | 0.0303 | -9 | c.413 others(30): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169132793 | AGATTCCC others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG02622.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0016others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0034 others(10): Show |
13 | 132 | 0.0985 | -9 | c.413 others(28): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLITRK5_chr13_87666371_87684616 | 87679866 | ATATATAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01496.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002 a0001c0001t0003g0004 |
9 | 402 | 0.0224 | -9 | c.*16 others(20): Show |
SLITRK5 | ENSG00000165300.8 | transcript | ENST00000683689.1 | protein_coding | 251 | chr13 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57848581 | GCTCCCTC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(9): Show | a0001c0001t0001g0136 a0001c0002t0001g0196 a0001c0002t0001g0197 others(90): Show |
93 | 308 | 0.3019 | -9 | c.457 others(26): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906673 | AAATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0025others(1): Show | a0001c0001t0003g0009 a0001c0001t0010g0300 a0001c0001t0010g0301 others(4): Show |
7 | 302 | 0.0232 | -9 | c.150 others(28): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906675 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03209.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0033 | a0001c0001t0003g0008 a0001c0001t0004g0095 a0001c0001t0033g0305 |
3 | 250 | 0.0120 | -9 | c.150 others(28): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | chr3 | TogoVar | |||||||
SLN_chr11_107702378_107717056 | 107715949 | AATGGAGG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02895.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0034 |
3 | 408 | 0.0074 | -9 | c.-40 others(20): Show |
SLN | ENSG00000170290.4 | transcript | ENST00000305991.3 | protein_coding | 3894 | chr11 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10432789 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp1 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0009 | a0001c0001t0004a0001c0001t0052a0001c0001t0053others(2): Show | a0001c0001t0004g0038 a0001c0001t0052g0206 a0001c0001t0053g0208 others(2): Show |
5 | 96 | 0.0521 | -9 | c.-26 others(20): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2515 | chr20 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10518472 | CTTTTCCT others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0221 a0001c0001t0022g0222 a0001c0001t0022g0229 |
3 | 260 | 0.0115 | -9 | c.28- others(26): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SLX4_chr16_3576181_3616606 | 3587168 | GGTATGTG others(2): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp2 HG03486.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0288 a0002c0005t0001g0289 a0002c0005t0001g0291 |
3 | 394 | 0.0076 | -9 | c.463 others(28): Show |
SLX4 | ENSG00000188827.12 | transcript | ENST00000294008.4 | protein_coding | 12/14 | chr16 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44978701 | GAACGTGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp1 NA18940.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0091 |
3 | 332 | 0.0090 | -9 | c.*18 others(20): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1729 | chr21 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145561033 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG03654.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0025 | a0001c0001t0006g0119 a0001c0001t0006g0120 a0001c0001t0006g0121 others(9): Show |
12 | 139 | 0.0863 | -9 | c.*31 others(20): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1858 | chr4 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47841148 | AAAAAAAA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(51): Show | a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0148 others(65): Show |
69 | 308 | 0.2240 | -9 | c.*67 others(18): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 670 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850572 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01358.hp1 HG02071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0003g0142 a0001c0001t0003g0150 a0001c0001t0007g0135 others(14): Show |
17 | 307 | 0.0554 | -9 | c.784 others(24): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47881090 | ATTCGCCT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(191): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(151): Show | a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 others(190): Show |
194 | 308 | 0.6299 | -9 | c.237 others(28): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67164316 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0099 others(119): Show |
123 | 258 | 0.4767 | -9 | c.207 others(24): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67166907 | TCATCCCT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0036a0001c0001t0044 | a0001c0001t0018g0068 a0001c0001t0036g0056 a0001c0001t0044g0194 |
3 | 308 | 0.0097 | -9 | c.607 others(22): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67196162 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0099 a0001c0001t0001g0223 a0001c0001t0001g0245 others(33): Show |
37 | 49 | 0.7551 | -9 | c.*56 others(20): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 994 | chr15 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51061600 | GGAATAAT others(2): Show |
G | intron_variant | MODIFIER | NA18968.hp1 NA18988.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0242 a0001c0001t0001g0244 |
3 | 300 | 0.0100 | -9 | c.955 others(26): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 8/11 | chr18 | TogoVar | |||||||
SMAD5_chr5_136127845_136187733 | 136165662 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02056.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0002g0084 a0001c0001t0007g0003 a0001c0001t0007g0067 others(2): Show |
9 | 71 | 0.1268 | -9 | c.775 others(26): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136183612 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0010 others(57): Show |
75 | 181 | 0.4144 | -9 | c.*61 others(20): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 880 | chr5 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48936076 | AAACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0267 a0001c0001t0002g0150 a0001c0001t0002g0281 |
3 | 390 | 0.0077 | -9 | c.742 others(26): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48936108 | ACACACAC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0065 others(63): Show |
67 | 396 | 0.1692 | -9 | c.742 others(26): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36840834 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(135): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 others(134): Show |
138 | 141 | 0.9787 | -9 | c.*78 others(20): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 3996 | chr13 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36910004 | TGGCTAAC others(2): Show |
T | intron_variant | MODIFIER | HG01981.hp2 HG02723.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0171 a0001c0001t0016g0169 a0001c0001t0016g0170 |
3 | 356 | 0.0084 | -9 | c.-18 others(30): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36920184 | AGCAGCGG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG03041.hp2 HG03130.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0063 | a0001c0001t0003g0226 a0001c0001t0008g0225 a0001c0001t0063g0224 |
3 | 335 | 0.0090 | -9 | c.-26 others(18): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/7 | 40496 | chr13 | TogoVar | ||||||
SMAD9_chr13_36839831_36925238 | 36920187 | AGCGGCGG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01934.hp2 HG02080.hp2 HG02155.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0080 | a0001c0001t0018g0350 a0001c0001t0018g0351 a0001c0001t0018g0353 others(3): Show |
6 | 218 | 0.0275 | -9 | c.-26 others(18): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/7 | 40499 | chr13 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70680102 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0130 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show |
4 | 178 | 0.0225 | -9 | c.118 others(28): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(72): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 others(72): Show |
75 | 79 | 0.9494 | -9 | c.119 others(26): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2174924 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01255.hp1 others(32): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(15): Show | a0001c0001t0001g0082 a0001c0001t0001g0121 a0001c0001t0001g0155 others(32): Show |
35 | 49 | 0.7143 | -9 | c.425 others(28): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2182478 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00639.hp2 others(82): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0008others(37): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(49): Show | a0001c0001t0001g0111 a0001c0001t0001g0160 a0001c0003t0001g0066 others(82): Show |
85 | 134 | 0.6343 | -9 | c.446 others(26): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11009007 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00621.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0200 a0001c0002t0001g0034 a0001c0002t0001g0045 others(61): Show |
64 | 74 | 0.8649 | -9 | c.212 others(28): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCAD1_chr4_94202865_94296292 | 94223752 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(138): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(126): Show |
141 | 320 | 0.4406 | -9 | c.191 others(26): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 2/23 | chr4 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216411392 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(28): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0001c0019others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 others(27): Show |
31 | 57 | 0.5439 | -9 | c.-13 others(20): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 1091 | chr2 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216474128 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02572.hp1 HG02818.hp2 others(10): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0019a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0019t0001others(3): Show | a0001c0001t0001g0128 a0001c0001t0001g0168 a0001c0001t0001g0169 others(10): Show |
13 | 174 | 0.0747 | -9 | c.224 others(28): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23830649 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01346.hp1 HG01891.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(9): Show | a0001c0001t0004g0072 a0001c0001t0009g0044 a0001c0001t0013g0005 others(19): Show |
23 | 48 | 0.4792 | -9 | c.987 others(26): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47708083 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 others(2): Show |
5 | 103 | 0.0485 | -9 | c.919 others(26): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 9/27 | chr3 | TogoVar | |||||||
SMARCD2_chr17_63827081_63847685 | 63843633 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 6 | 94 | 0.0638 | -9 | c.-96 others(18): Show |
SMARCD2 | ENSG00000108604.18 | transcript | ENST00000448276.7 | protein_coding | 949 | chr17 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45409601 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp2 HG02280.hp1 others(6): Show |
a0001a0009a0010 | a0001c0002a0009c0013a0010c0014 | a0001c0002t0001a0009c0013t0001a0010c0014t0001 | a0001c0002t0001g0158 a0001c0002t0001g0170 a0001c0002t0001g0242 others(6): Show |
9 | 358 | 0.0251 | -9 | c.110 others(24): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
SMC5_chr9_70253978_70359873 | 70359065 | AATTATTA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(196): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0016others(17): Show | a0001c0001t0002g0010 a0001c0001t0002g0017 a0001c0001t0002g0018 others(182): Show |
199 | 209 | 0.9522 | -9 | c.*67 others(20): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 4193 | chr9 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17701033 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(93): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
96 | 112 | 0.8571 | -9 | c.222 others(26): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2748381 | TGTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02523.hp2 NA18961.hp1 NA18990.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0051 a0002c0006t0001g0116 a0002c0006t0001g0124 others(2): Show |
5 | 336 | 0.0149 | -9 | c.392 others(26): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 30/47 | chr18 | TogoVar | |||||||
SMCO1_chr3_196501879_196520346 | 196515983 | GATAGGAT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0040 a0001c0001t0002g0004 a0001c0001t0002g0008 others(13): Show |
22 | 298 | 0.0738 | -9 | c.-78 others(18): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 638 | chr3 | TogoVar | |||||||
SMCO1_chr3_196501879_196520346 | 196517104 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03688.hp1 HG03831.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0004 | a0001c0001t0001g0026 a0005c0005t0004g0025 a0005c0005t0004g0047 others(5): Show |
9 | 124 | 0.0726 | -9 | c.-19 others(20): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1759 | chr3 | TogoVar | |||||||
SMCO2_chr12_27441736_27507185 | 27477209 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG02040.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 others(7): Show |
10 | 199 | 0.0503 | -9 | c.512 others(26): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
SMCO2_chr12_27441736_27507185 | 27494487 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(45): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0194 a0002c0003t0001g0027 others(31): Show |
48 | 88 | 0.5455 | -9 | c.657 others(24): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMG1_chr16_18799860_18931408 | 18849069 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01169.hp1 HG01192.hp2 others(20): Show |
a0001a0002a0003 | a0001c0007a0001c0010a0001c0016others(2): Show | a0001c0007t0003a0001c0010t0026a0001c0016t0003others(2): Show | a0001c0007t0003g0206 a0001c0007t0003g0213 a0001c0010t0026g0188 others(20): Show |
23 | 87 | 0.2644 | -9 | c.562 others(26): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 36/62 | chr16 | TogoVar |