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 | 57774509 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03139.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0186 |
3 | 310 | 0.0097 | -12 | c.198 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57788859 | TAGGGAGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(119): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(18): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(119): Show |
122 | 310 | 0.3936 | -12 | c.198 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57853955 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 a0001c0001t0003g0127 a0001c0001t0003g0131 |
3 | 310 | 0.0097 | -12 | c.520 others(29): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57869630 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01934.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016 | a0001c0001t0009g0116 a0001c0001t0009g0117 a0001c0001t0009g0118 others(4): Show |
7 | 310 | 0.0226 | -12 | c.123 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57882007 | TTAAATAA others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0004 | 1 | 310 | 0.0032 | -12 | c.130 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57885771 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01361.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013a0001c0001t0020others(2): Show | a0001c0001t0004g0075 a0001c0001t0004g0080 a0001c0001t0004g0081 others(22): Show |
25 | 310 | 0.0807 | -12 | c.130 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLMAP_chr3_57751309_57935003 | 57892783 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0179 a0001c0001t0011g0180 a0001c0001t0011g0181 others(1): Show |
4 | 310 | 0.0129 | -12 | c.136 others(31): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLPI_chr20_45247239_45259564 | 45254198 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 398 | 0.0025 | -12 | c.85+ others(25): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
SLPI_chr20_45247239_45259564 | 45255715 | CGTACGTA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01358.hp1 HG01884.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0027 others(12): Show |
39 | 398 | 0.0980 | -12 | c.-11 others(23): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 1152 | chr20 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58886218 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 386 | 0.0026 | -12 | c.283 others(29): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58915191 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 others(218): Show |
230 | 386 | 0.5959 | -12 | c.316 others(29): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 3/20 | chr15 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58920627 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 386 | 0.0026 | -12 | c.251 others(29): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142767888 | GAATGAAT others(5): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA18959.hp1 NA18967.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0002g0032 |
5 | 446 | 0.0112 | -12 | c.52+ others(27): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SLURP2_chr8_142759338_142774828 | 142767900 | AAATGAAT others(5): Show |
A | intron_variant | MODIFIER | NA19001.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 a0001c0001t0002g0101 |
2 | 446 | 0.0045 | -12 | c.52+ others(27): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
SLX1A_chr16_30188875_30202561 | 30190400 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
5 | 194 | 0.0258 | -12 | c.-36 others(23): Show |
SLX1A | ENSG00000132207.18 | transcript | ENST00000251303.11 | protein_coding | 3474 | chr16 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10455579 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 266 | 0.0038 | -12 | c.-29 others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518456 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0182 | 1 | 266 | 0.0038 | -12 | c.28- others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10518490 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(46): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0033 others(46): Show |
49 | 266 | 0.1842 | -12 | c.28- others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10540096 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02109.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0034others(3): Show | a0001c0001t0001g0214 a0001c0001t0001g0235 a0001c0001t0001g0242 others(12): Show |
15 | 266 | 0.0564 | -12 | c.28- others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10566283 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01257.hp1 HG01258.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0032 | a0002c0002t0005g0028 a0002c0002t0005g0032 a0002c0002t0005g0078 others(6): Show |
9 | 266 | 0.0338 | -12 | c.238 others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10616391 | GAAATAAA others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00738.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0007a0001c0001t0017a0001c0001t0018others(11): Show | a0001c0001t0007g0079 a0001c0001t0007g0134 a0001c0001t0007g0232 others(28): Show |
31 | 266 | 0.1165 | -12 | c.406 others(29): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4_chr16_3576181_3616606 | 3613908 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0011 | a0011c0048 | a0011c0048t0001 | a0011c0048t0001g0141 | 1 | 396 | 0.0025 | -12 | c.-29 others(23): Show |
SLX4 | ENSG00000188827.12 | transcript | ENST00000294008.4 | protein_coding | 2303 | chr16 | TogoVar | |||||||
SMAD1_chr4_145476853_145564176 | 145488476 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01192.hp2 HG01243.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0029 a0001c0001t0001g0052 a0001c0001t0001g0078 others(58): Show |
63 | 308 | 0.2046 | -12 | c.-17 others(31): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145515134 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0072 a0001c0003t0012g0144 |
2 | 308 | 0.0065 | -12 | c.400 others(27): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD1_chr4_145476853_145564176 | 145528060 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 308 | 0.0033 | -12 | c.401 others(31): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47820894 | TATACACA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02572.hp1 HG03139.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0248a0001c0002t0249a0001c0002t0250others(1): Show | a0001c0002t0248g0303 a0001c0002t0249g0306 a0001c0002t0250g0304 others(1): Show |
4 | 310 | 0.0129 | -12 | c.*20 others(25): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 20921 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47820896 | TACACACA others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01109.hp1 HG01261.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0065a0001c0001t0200others(6): Show | a0001c0001t0028g0138 a0001c0001t0028g0164 a0001c0001t0065g0197 others(7): Show |
10 | 310 | 0.0323 | -12 | c.*20 others(25): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 20919 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47847700 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0112 | 1 | 310 | 0.0032 | -12 | c.997 others(27): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 8/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47850384 | ATATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02055.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0200a0001c0001t0201a0001c0001t0245 | a0001c0001t0200g0175 a0001c0001t0201g0174 a0001c0001t0245g0007 |
3 | 310 | 0.0097 | -12 | c.784 others(27): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47885130 | TATACACA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG03490.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0061a0001c0001t0255 | a0001c0001t0001g0257 a0001c0001t0061g0268 a0001c0001t0255g0096 |
3 | 310 | 0.0097 | -12 | c.236 others(31): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47885132 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(56): Show | a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0005g0260 others(63): Show |
66 | 310 | 0.2129 | -12 | c.236 others(31): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47886570 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0200a0001c0001t0201a0001c0002t0247others(7): Show | a0001c0001t0200g0175 a0001c0001t0201g0174 a0001c0002t0247g0014 others(7): Show |
10 | 310 | 0.0323 | -12 | c.236 others(29): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47919469 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp2 HG01243.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0050a0001c0001t0053others(12): Show | a0001c0001t0009g0081 a0001c0001t0009g0083 a0001c0001t0009g0084 others(14): Show |
17 | 310 | 0.0548 | -12 | c.-54 others(31): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67077240 | CGTATGTA others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0119 | 1 | 310 | 0.0032 | -12 | c.206 others(31): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67084060 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0056 | 1 | 310 | 0.0032 | -12 | c.206 others(31): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67085889 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0231 others(51): Show |
54 | 310 | 0.1742 | -12 | c.206 others(31): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67150808 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0059 | a0001c0001t0020g0229 a0001c0001t0059g0119 |
2 | 310 | 0.0065 | -12 | c.207 others(31): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67160770 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0232 a0001c0001t0002g0109 a0001c0002t0002g0290 others(1): Show |
4 | 310 | 0.0129 | -12 | c.207 others(29): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67162946 | GTGATGAT others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0059 | a0001c0001t0020g0229 a0001c0001t0059g0119 |
2 | 310 | 0.0065 | -12 | c.207 others(29): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67164316 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 310 | 0.0032 | -12 | c.207 others(27): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182990 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0052 | 1 | 310 | 0.0032 | -12 | c.871 others(29): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67182996 | AAAAAATA others(5): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 310 | 0.0032 | -12 | c.871 others(29): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67196180 | AAAAAAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0053 | a0001c0001t0042g0221 a0001c0001t0053g0082 |
2 | 310 | 0.0065 | -12 | c.*56 others(23): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1012 | chr15 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51042301 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0271 | 1 | 302 | 0.0033 | -12 | c.-12 others(31): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073380 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0125 | 1 | 302 | 0.0033 | -12 | c.130 others(31): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51073388 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00639.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0036 others(40): Show |
43 | 302 | 0.1424 | -12 | c.130 others(31): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMAD4_chr18_51025213_51090042 | 51084004 | GCGCGCGC others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0024a0001c0001t0032others(2): Show | a0001c0001t0020g0064 a0001c0001t0020g0089 a0001c0001t0020g0106 others(6): Show |
9 | 302 | 0.0298 | -12 | c.*55 others(23): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 12/12 | 5539 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD4_chr18_51025213_51090042 | 51084006 | GCGCGCGC others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0004 a0001c0002t0023g0014 |
3 | 302 | 0.0099 | -12 | c.*55 others(23): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 12/12 | 5541 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMAD5_chr5_136127845_136187733 | 136165662 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01516.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0018others(1): Show | a0001c0001t0003g0059 a0001c0001t0003g0138 a0001c0001t0005g0028 others(6): Show |
11 | 294 | 0.0374 | -12 | c.775 others(29): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SMAD9_chr13_36839831_36925238 | 36882227 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(3): Show | a0001c0001t0001g0335 a0001c0001t0014g0202 a0001c0001t0043g0336 others(3): Show |
6 | 358 | 0.0168 | -12 | c.-18 others(31): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar |