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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLK_chr10_103962140_104034233 | 103974655 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01106.hp1 others(11): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0236 a0001c0001t0001g0262 a0001c0001t0001g0263 others(11): Show |
14 | 376 | 0.0372 | 20 | c.150 others(37): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLK_chr10_103962140_104034233 | 104007768 | C | CAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0209 | 1 | 376 | 0.0027 | 20 | c.260 others(37): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57869630 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02055.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0288 a0001c0001t0002g0023 a0001c0001t0002g0024 others(6): Show |
9 | 310 | 0.0290 | 20 | c.123 others(39): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57906305 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 310 | 0.0032 | 20 | c.150 others(39): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLTM_chr15_58874050_58938679 | 58882181 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02559.hp1 HG02683.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0002g0332 others(1): Show |
4 | 386 | 0.0104 | 20 | c.299 others(39): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 20/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58922377 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 386 | 0.0026 | 20 | c.251 others(37): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10540096 | T | TTCCTTTC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01074.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0002g0088 a0001c0001t0003g0131 a0001c0001t0012g0058 others(14): Show |
17 | 266 | 0.0639 | 20 | c.28- others(37): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX9_chr21_44935029_44981973 | 44979415 | A | ATGCCGCG others(13): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 334 | 0.0030 | 20 | c.*26 others(31): Show |
SLX9 | ENSG00000160256.14 | transcript | ENST00000291634.11 | protein_coding | 2443 | chr21 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47830576 | C | CAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0248a0001c0002t0249 | a0001c0002t0248g0303 a0001c0002t0249g0306 |
2 | 310 | 0.0065 | 20 | c.*11 others(33): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 11250 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47879495 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 HG04115.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0029a0001c0001t0215others(2): Show | a0001c0001t0010g0162 a0001c0001t0029g0133 a0001c0001t0215g0144 others(2): Show |
5 | 310 | 0.0161 | 20 | c.237 others(37): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47882041 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0259 | 1 | 310 | 0.0032 | 20 | c.237 others(39): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67113076 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02155.hp2 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0205 a0001c0001t0005g0018 a0001c0001t0007g0186 others(2): Show |
5 | 310 | 0.0161 | 20 | c.206 others(39): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67177422 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0050 | 1 | 310 | 0.0032 | 20 | c.659 others(37): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182996 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 310 | 0.0032 | 20 | c.871 others(37): 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(13): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129 | 1 | 310 | 0.0032 | 20 | c.871 others(37): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51042283 | G | GCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0071 | a0001c0001t0012g0017 a0001c0001t0012g0018 a0001c0001t0012g0019 others(2): Show |
5 | 302 | 0.0166 | 20 | c.-12 others(39): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073388 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0071 | a0001c0001t0012g0017 a0001c0001t0071g0020 |
2 | 302 | 0.0066 | 20 | c.130 others(39): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073388 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0035 | a0001c0001t0012g0018 a0001c0001t0035g0023 |
2 | 302 | 0.0066 | 20 | c.130 others(39): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD5_chr5_136127845_136187733 | 136183496 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 a0001c0001t0004g0044 |
2 | 294 | 0.0068 | 20 | c.*60 others(31): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 764 | chr5 | TogoVar | |||||||
SMAD6_chr15_66697236_66787849 | 66724285 | G | GGAATGAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18973.hp1 |
a0004a0012 | a0004c0009a0012c0011 | a0004c0009t0009a0012c0011t0007 | a0004c0009t0009g0272 a0012c0011t0007g0285 |
2 | 336 | 0.0060 | 20 | c.952 others(37): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD6_chr15_66697236_66787849 | 66774833 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0195 |
2 | 336 | 0.0060 | 20 | c.953 others(37): Show |
SMAD6 | ENSG00000137834.15 | transcript | ENST00000288840.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD7_chr18_48914853_48955965 | 48929567 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 398 | 0.0025 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 NA18906.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0021a0002c0006t0001 | a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0201 others(2): Show |
5 | 398 | 0.0126 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02055.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0016a0006c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0174 a0001c0001t0001g0218 a0001c0001t0001g0320 others(6): Show |
9 | 398 | 0.0226 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCTCAC others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0091 others(18): Show |
21 | 398 | 0.0528 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02622.hp2 NA18945.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0090 a0001c0001t0001g0367 a0001c0001t0002g0009 others(6): Show |
10 | 398 | 0.0251 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48929569 | T | TCTCTCTC others(13): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 398 | 0.0025 | 20 | c.743 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD7_chr18_48914853_48955965 | 48937264 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03471.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0100 a0001c0001t0001g0325 a0001c0001t0008g0163 |
3 | 398 | 0.0075 | 20 | c.742 others(37): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAD9_chr13_36839831_36925238 | 36840834 | T | TAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0014 | 1 | 358 | 0.0028 | 20 | c.*78 others(31): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 3996 | chr13 | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2176182 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0265 a0003c0007t0001g0067 |
2 | 316 | 0.0063 | 20 | c.425 others(39): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11061204 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0212 | 1 | 286 | 0.0035 | 20 | c.491 others(37): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 34/34 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SMARCA4_chr19_10956030_11067273 | 11064669 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02738.hp2 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0001a0001c0011t0001 | a0001c0003t0001g0209 a0001c0011t0001g0278 |
2 | 286 | 0.0070 | 20 | c.*28 others(31): Show |
SMARCA4 | ENSG00000127616.22 | transcript | ENST00000344626.10 | protein_coding | 2397 | chr19 | TogoVar | |||||||
SMARCAD1_chr4_94202865_94296292 | 94275796 | C | CTTTTATT others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0072 | 1 | 322 | 0.0031 | 20 | c.180 others(37): Show |
SMARCAD1 | ENSG00000163104.18 | transcript | ENST00000354268.9 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47600998 | T | TGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0013 a0001c0001t0002g0101 a0001c0002t0002g0093 others(1): Show |
4 | 219 | 0.0183 | 20 | c.304 others(39): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47671173 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0193 |
2 | 219 | 0.0091 | 20 | c.184 others(37): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47747484 | A | AATATAAA others(13): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168 | 1 | 219 | 0.0046 | 20 | c.316 others(37): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SMARCC1_chr3_47580269_47786893 | 47749670 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02602.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0178 a0001c0001t0002g0145 a0001c0001t0002g0155 others(2): Show |
5 | 219 | 0.0228 | 20 | c.316 others(37): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
SMARCC2_chr12_56157359_56194483 | 56167889 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02615.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0044 a0001c0001t0002g0016 a0001c0001t0004g0168 |
4 | 250 | 0.0160 | 20 | c.285 others(37): Show |
SMARCC2 | ENSG00000139613.12 | transcript | ENST00000550164.6 | protein_coding | 26/28 | chr12 | TogoVar | |||||||
SMC1A_chrX_53369149_53427654 | 53402868 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02040.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0091 others(2): Show |
5 | 213 | 0.0235 | 20 | c.242 others(37): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | |||||||
SMC1A_chrX_53369149_53427654 | 53410926 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01192.hp1 HG02015.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 others(9): Show |
12 | 213 | 0.0563 | 20 | c.125 others(37): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 7/24 | chrX | TogoVar | |||||||
SMC1A_chrX_53369149_53427654 | 53425515 | T | TAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0094 | 1 | 213 | 0.0047 | 20 | c.-29 others(31): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 2862 | chrX | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45353893 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0092 | 1 | 360 | 0.0028 | 20 | c.327 others(35): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 21/24 | chr22 | TogoVar | |||||||
SMC3_chr10_110562695_110611048 | 110607292 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 HG02027.hp2 HG02602.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 others(16): Show |
21 | 328 | 0.0640 | 20 | c.*29 others(31): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 1245 | chr10 | TogoVar | |||||||
SMC4_chr3_160394650_160439953 | 160425022 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0003g0111 |
3 | 332 | 0.0090 | 20 | c.247 others(35): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70309349 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0009 | a0009c0016 | a0009c0016t0011 | a0009c0016t0011g0108 | 1 | 366 | 0.0027 | 20 | c.157 others(39): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | chr9 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2679480 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG03225.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0118 a0001c0004t0002g0340 |
2 | 340 | 0.0059 | 20 | c.638 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2684700 | A | AGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01943.hp1 HG01975.hp1 others(6): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0002a0003c0003t0004a0003c0003t0005others(1): Show | a0001c0004t0002g0113 a0001c0004t0002g0119 a0001c0004t0002g0120 others(6): Show |
9 | 340 | 0.0265 | 20 | c.639 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0042 | 1 | 340 | 0.0029 | 20 | c.226 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0008 | a0004c0008t0011 | a0004c0008t0011g0222 | 1 | 340 | 0.0029 | 20 | c.226 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMCHD1_chr18_2650726_2810017 | 2708907 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01358.hp1 HG01981.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0009others(8): Show | a0001c0004t0002a0001c0004t0005a0001c0004t0012others(12): Show | a0001c0004t0002g0130 a0001c0004t0005g0078 a0001c0004t0005g0122 others(17): Show |
20 | 340 | 0.0588 | 20 | c.226 others(37): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 17/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |