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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLMAP_chr3_57751309_57935003 | 57853956 | TATATATA | T | intron_variant | MODIFIER | HG00609.hp2 HG02080.hp2 HG02083.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0024 | a0001c0002t0001g0215 a0001c0002t0001g0217 a0001c0002t0001g0235 others(8): Show |
11 | 269 | 0.0409 | -7 | c.520 others(24): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | chr3 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57906675 | ATATATAT | A | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001 | a0001c0001t0012g0109 a0001c0001t0012g0110 a0001c0001t0012g0111 others(2): Show |
5 | 252 | 0.0198 | -7 | c.150 others(26): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | chr3 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30190395 | TTATAATA | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 194 | 0.0155 | -7 | c.-36 others(18): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 3479 | chr16 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30190400 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02717.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show |
23 | 188 | 0.1223 | -7 | c.-36 others(18): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 3474 | chr16 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10445932 | GCTTTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01070.hp1 others(44): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 others(44): Show |
47 | 263 | 0.1787 | -7 | c.-30 others(26): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10518431 | CCCTCCTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01168.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0025others(2): Show | a0001c0001t0002g0078 a0001c0001t0002g0117 a0001c0001t0002g0157 others(9): Show |
12 | 264 | 0.0455 | -7 | c.28- others(24): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518467 | CCTTTCTT | C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01099.hp1 others(31): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0237 a0001c0001t0002g0003 a0001c0001t0002g0005 others(31): Show |
34 | 264 | 0.1288 | -7 | c.28- others(24): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SLX9_chr21_44935029_44981973 | 44941358 | CTGCTTGA | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01243.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0141 others(8): Show |
13 | 332 | 0.0392 | -7 | c.129 others(24): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44976275 | AGGCTCTC | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(24): Show |
56 | 331 | 0.1692 | -7 | c.570 others(22): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145547291 | CAGTAAAT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(86): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0138 others(80): Show |
89 | 306 | 0.2909 | -7 | c.997 others(22): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47850565 | ATATATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0054a0001c0002t0055others(5): Show | a0001c0002t0053g0015 a0001c0002t0054g0302 a0001c0002t0055g0305 others(5): Show |
8 | 308 | 0.0260 | -7 | c.784 others(22): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51067279 | TTTATATA | T | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0014a0001c0001t0028others(2): Show | a0001c0001t0010g0018 a0001c0001t0010g0019 a0001c0001t0010g0021 others(7): Show |
11 | 300 | 0.0367 | -7 | c.130 others(23): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD7_chr18_48914853_48955965 | 48936110 | ACACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(99): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(91): Show |
102 | 396 | 0.2576 | -7 | c.742 others(24): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36897582 | AAGAAATT | A | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(3): Show | a0001c0001t0001g0336 a0001c0001t0012g0172 a0001c0001t0016g0207 others(3): Show |
6 | 356 | 0.0169 | -7 | c.-18 others(28): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36905774 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0099 others(14): Show |
18 | 38 | 0.4737 | -7 | c.-18 others(28): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SMAGP_chr12_51239558_51275415 | 51250204 | CAAAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp1 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0213 a0001c0001t0008g0211 a0001c0001t0008g0212 others(4): Show |
7 | 162 | 0.0432 | -7 | c.35- others(22): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT | G | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01891.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0193 others(27): Show |
30 | 34 | 0.8824 | -7 | c.119 others(24): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMAP1_chr6_70662883_70867003 | 70826934 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0124 a0001c0001t0001g0125 others(94): Show |
98 | 250 | 0.3920 | -7 | c.577 others(24): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA1_chrX_129441506_129528490 | 129526720 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00735.hp1 others(52): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0075 others(49): Show |
55 | 82 | 0.6707 | -7 | c.-33 others(18): Show |
SMARCA1 | ENSG00000102038.16 | transcript | ENST00000371121.5 | protein_coding | 3231 | chrX | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2122111 | TAAAAGAA | T | intron_variant | MODIFIER | HG02572.hp1 HG02895.hp1 HG03209.hp1 others(2): Show |
a0001a0003a0007 | a0001c0003a0001c0058a0003c0007others(1): Show | a0001c0003t0001a0001c0003t0002a0001c0058t0001others(2): Show | a0001c0003t0001g0238 a0001c0003t0002g0271 a0001c0058t0001g0135 others(2): Show |
5 | 314 | 0.0159 | -7 | c.376 others(26): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2176182 | GTTTTTTT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0040others(10): Show | a0001c0001t0001a0001c0003t0009a0001c0040t0001others(12): Show | a0001c0001t0001g0220 a0001c0003t0009g0236 a0001c0040t0001g0019 others(14): Show |
17 | 203 | 0.0837 | -7 | c.425 others(26): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11007429 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0006a0001c0008 | a0001c0006t0001a0001c0008t0001 | a0001c0006t0001g0267 a0001c0006t0001g0270 a0001c0006t0001g0271 others(4): Show |
7 | 243 | 0.0288 | -7 | c.200 others(24): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCAD1_chr4_94202865_94296292 | 94223734 | ATTTTTTT | A | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0213 a0002c0003t0003g0214 a0002c0003t0003g0215 others(3): Show |
6 | 293 | 0.0205 | -7 | c.191 others(24): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCAL1_chr2_216407484_216488053 | 216411392 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00558.hp2 others(50): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0012a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0163 others(46): Show |
53 | 79 | 0.6709 | -7 | c.-13 others(18): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 1091 | chr2 | TogoVar | |||||||
SMARCAL1_chr2_216407484_216488053 | 216469279 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp1 HG02145.hp1 others(6): Show |
a0001a0004a0007 | a0001c0001a0004c0005a0007c0008 | a0001c0001t0001a0004c0005t0001a0007c0008t0001 | a0001c0001t0001g0027 a0001c0001t0001g0307 a0001c0001t0001g0308 others(4): Show |
9 | 199 | 0.0452 | -7 | c.224 others(26): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMARCAL1_chr2_216407484_216488053 | 216470838 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(17): Show |
a0001a0003a0008 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0138 a0001c0003t0001g0014 a0001c0003t0001g0015 others(15): Show |
20 | 107 | 0.1869 | -7 | c.224 others(26): Show |
SMARCAL1 | ENSG00000138375.14 | transcript | ENST00000357276.9 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMARCB1_chr22_23781966_23843009 | 23807961 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(10): Show | a0001c0001t0001g0281 a0001c0001t0003g0303 a0001c0001t0003g0305 others(46): Show |
52 | 335 | 0.1552 | -7 | c.628 others(24): Show |
SMARCB1 | ENSG00000099956.20 | transcript | ENST00000644036.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47708083 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG01081.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0058 others(9): Show |
12 | 110 | 0.1091 | -7 | c.919 others(24): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 9/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47740850 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(10): Show |
13 | 197 | 0.0660 | -7 | c.402 others(24): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SMC2_chr9_104089309_104146419 | 104094525 | TGGCGGGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(77): Show |
128 | 273 | 0.4689 | -7 | c.-62 others(20): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104136755 | CTTTTTTT | C | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG03130.hp2 others(2): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0012a0001c0003t0016a0005c0006t0011 | a0001c0003t0012g0048 a0001c0003t0012g0050 a0001c0003t0016g0049 others(2): Show |
5 | 241 | 0.0207 | -7 | c.327 others(26): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2662177 | AATAAAAT | A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0241 a0001c0005t0004g0242 a0001c0005t0004g0243 others(4): Show |
7 | 331 | 0.0211 | -7 | c.187 others(24): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2662185 | AAATAAAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01106.hp2 others(50): Show |
a0001a0002a0004others(4): Show | a0001c0005a0001c0007a0001c0012others(7): Show | a0001c0005t0004a0001c0005t0010a0001c0005t0018others(21): Show | a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0025 others(50): Show |
53 | 338 | 0.1568 | -7 | c.187 others(24): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2681412 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0003a0001c0007t0009 | a0001c0007t0003g0239 a0001c0007t0003g0240 a0001c0007t0009g0234 others(4): Show |
7 | 47 | 0.1489 | -7 | c.639 others(24): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2748383 | TATATAAA | T | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG03239.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004a0001c0030 | a0001c0002t0001a0001c0004t0001a0001c0030t0001 | a0001c0002t0001g0110 a0001c0004t0001g0050 a0001c0004t0001g0085 others(5): Show |
8 | 287 | 0.0279 | -7 | c.392 others(24): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 30/47 | chr18 | TogoVar | |||||||
SMCO1_chr3_196501879_196520346 | 196515983 | GATAGGAT | G | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00738.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0004 | a0001c0001t0002a0001c0008t0002a0004c0004t0006 | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0013 others(7): Show |
12 | 288 | 0.0417 | -7 | c.-78 others(16): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 638 | chr3 | TogoVar | |||||||
SMCO2_chr12_27441736_27507185 | 27477209 | GGTTTTTT | G | intron_variant | MODIFIER | HG02257.hp1 NA18959.hp2 NA19055.hp2 |
a0002 | a0002c0003a0002c0007 | a0002c0003t0003a0002c0007t0001 | a0002c0003t0003g0137 a0002c0003t0003g0149 a0002c0007t0001g0274 |
3 | 192 | 0.0156 | -7 | c.512 others(24): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | chr12 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18803059 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01099.hp1 others(11): Show |
a0001a0010a0013 | a0001c0004a0010c0019a0013c0020 | a0001c0004t0004a0010c0019t0004a0013c0020t0004 | a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 others(11): Show |
14 | 107 | 0.1308 | -7 | c.*65 others(18): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 1800 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18854002 | ATAGGAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0007others(12): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0030others(22): Show | a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 others(127): Show |
130 | 298 | 0.4362 | -7 | c.448 others(24): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 30/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18856329 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0007t0003a0001c0007t0023others(8): Show | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0007t0003g0175 others(38): Show |
41 | 95 | 0.4316 | -7 | c.423 others(26): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 29/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18874866 | CAAAAAAA | C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02602.hp2 others(6): Show |
a0001a0013 | a0001c0001a0001c0004a0013c0020 | a0001c0001t0017a0001c0004t0004a0013c0020t0004 | a0001c0001t0017g0119 a0001c0004t0004g0016 a0001c0004t0004g0017 others(6): Show |
9 | 19 | 0.4737 | -7 | c.189 others(26): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 13/62 | chr16 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2129793 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp2 others(12): Show |
a0002a0004a0007others(3): Show | a0002c0002a0004c0004a0007c0007others(3): Show | a0002c0002t0001a0002c0002t0002a0004c0004t0021others(6): Show | a0002c0002t0001g0043 a0002c0002t0002g0088 a0004c0004t0021g0219 others(12): Show |
15 | 92 | 0.1630 | -7 | c.335 others(28): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230215 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(57): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0023a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0232 others(57): Show |
60 | 276 | 0.2174 | -7 | c.286 others(26): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230330 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00639.hp2 others(69): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0240 others(69): Show |
72 | 276 | 0.2609 | -7 | c.286 others(26): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2277161 | ATTTATTT | A | intron_variant | MODIFIER | HG01952.hp1 HG03209.hp2 HG03831.hp1 others(1): Show |
a0002a0003a0021 | a0002c0002a0003c0003a0021c0026 | a0002c0002t0002a0002c0002t0024a0003c0003t0001others(1): Show | a0002c0002t0002g0083 a0002c0002t0024g0035 a0003c0003t0001g0157 others(1): Show |
4 | 275 | 0.0145 | -7 | c.266 others(26): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59209081 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00609.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 126 | 0.0476 | -7 | c.-97 others(16): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 953 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59209538 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(55): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0004a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(4): Show |
58 | 191 | 0.3037 | -7 | c.-51 others(16): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 496 | chr17 | TogoVar | |||||||
SMG8_chr17_59205035_59220230 | 59215369 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01169.hp1 HG01928.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0002g0002 others(2): Show |
34 | 38 | 0.8947 | -7 | c.*36 others(16): Show |
SMG8 | ENSG00000167447.13 | transcript | ENST00000300917.10 | protein_coding | 140 | chr17 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43757207 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0002g0065 a0001c0001t0005g0012 a0001c0001t0005g0102 others(2): Show |
8 | 161 | 0.0497 | -7 | c.-25 others(18): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2246 | chr19 | TogoVar | |||||||
SMIM10L2A_chrX_135416944_135433075 | 135426830 | AAAGCCCT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(13): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0005 others(17): Show |
107 | 299 | 0.3579 | -7 | c.*35 others(18): Show |
SMIM10L2A | ENSG00000178947.9 | transcript | ENST00000417443.3 | protein_coding | 2/2 | 4463 | chrX | TogoVar |