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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMOC2_chr6_168436184_168672992 | 168519024 | CATGTGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01346.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0146 others(4): Show |
7 | 180 | 0.0389 | -6 | c.257 others(23): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168599811 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(60): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0095 others(60): Show |
63 | 180 | 0.3500 | -6 | c.824 others(21): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168615515 | GTCTCTT | G | intron_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01167.hp1 others(36): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 others(36): Show |
39 | 180 | 0.2167 | -6 | c.907 others(23): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168640171 | CTTGGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(12): Show | a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 others(101): Show |
104 | 180 | 0.5778 | -6 | c.908 others(25): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168642535 | CGTGGTG | C | intron_variant | MODIFIER | HG01346.hp1 HG01952.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0092 a0001c0001t0001g0133 a0001c0001t0001g0134 others(5): Show |
8 | 180 | 0.0444 | -6 | c.908 others(23): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6387249 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01106.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0021a0002c0002others(3): Show | a0001c0001t0001a0001c0021t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(8): Show |
18 | 388 | 0.0464 | -6 | c.-33 others(17): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3224 | chr11 | TogoVar | |||||||
SMPD1_chr11_6385474_6399996 | 6390705 | TGCTGGC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(112): Show |
a0002a0013 | a0002c0002a0002c0005a0002c0006others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0005t0002others(10): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(24): Show |
115 | 388 | 0.2964 | -6 | c.138 others(13): Show |
p.Leu others(11): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 1/6 | 263/2410 | 138/1896 | 46/631 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMPD3_chr16_68353327_68453508 | 68446484 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02647.hp1 others(7): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0004g0106 a0001c0001t0005g0102 a0001c0001t0007g0099 others(7): Show |
10 | 208 | 0.0481 | -6 | c.-26 others(25): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21715262 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(36): Show |
51 | 289 | 0.1765 | -6 | c.*15 others(23): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21715304 | GCGCGCA | G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0043 |
3 | 289 | 0.0104 | -6 | c.*15 others(23): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21728214 | TTCTCTC | T | intron_variant | MODIFIER | HG01256.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0181 |
2 | 289 | 0.0069 | -6 | c.*14 others(23): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21731654 | GTGTGTA | G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 289 | 0.0035 | -6 | c.*14 others(23): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21731830 | TTATATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(6): Show |
9 | 289 | 0.0311 | -6 | c.*14 others(23): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMR3A_chr4_70355760_70372158 | 70371427 | TTGAAAC | T | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03130.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 458 | 0.0066 | -6 | c.*44 others(17): Show |
SMR3A | ENSG00000109208.5 | transcript | ENST00000226460.5 | protein_coding | 4270 | chr4 | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21941884 | CAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG03239.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0166 others(7): Show |
10 | 298 | 0.0336 | -6 | c.49+ others(21): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21944522 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0267 a0001c0001t0002g0276 a0001c0001t0002g0277 others(22): Show |
25 | 298 | 0.0839 | -6 | c.49+ others(21): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21945639 | CCCCCCA | C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 298 | 0.0034 | -6 | c.49+ others(21): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21948439 | CTTTTTT | C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 298 | 0.0034 | -6 | c.49+ others(21): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21952417 | GTTTGTT | G | intron_variant | MODIFIER | HG01943.hp1 NA18940.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0232 others(1): Show |
4 | 298 | 0.0134 | -6 | c.49+ others(23): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21979967 | TTAATAA | T | intron_variant | MODIFIER | HG01106.hp1 HG02698.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show |
5 | 298 | 0.0168 | -6 | c.750 others(23): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21986347 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0066 a0001c0001t0004g0074 a0001c0001t0005g0275 others(2): Show |
5 | 298 | 0.0168 | -6 | c.945 others(23): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21995658 | ACTTTTT | A | downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 298 | 0.0034 | -6 | c.*13 others(17): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 822 | chrX | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21995679 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(58): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 others(58): Show |
61 | 298 | 0.2047 | -6 | c.*13 others(17): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 843 | chrX | TogoVar | |||||||
SMTNL1_chr11_57532595_57555272 | 57542104 | CAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02615.hp2 HG02818.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0003 | a0002c0001t0001g0027 a0002c0001t0003g0023 a0002c0001t0003g0110 |
7 | 366 | 0.0191 | -6 | c.-2- others(19): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57542109 | AAAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01496.hp1 others(19): Show |
a0001a0002a0009 | a0001c0003a0002c0001a0009c0014 | a0001c0003t0002a0001c0003t0005a0001c0003t0006others(2): Show | a0001c0003t0002g0003 a0001c0003t0002g0015 a0001c0003t0002g0019 others(8): Show |
22 | 366 | 0.0601 | -6 | c.-2- others(19): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4581337 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG02080.hp1 others(19): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0007others(1): Show | a0001c0003t0001a0001c0003t0007a0001c0006t0001others(4): Show | a0001c0003t0001g0045 a0001c0003t0001g0161 a0001c0003t0001g0162 others(17): Show |
22 | 442 | 0.0498 | -6 | c.-32 others(17): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3191 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4586512 | AAGAGAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(323): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(21): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(39): Show | a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0013 others(260): Show |
326 | 442 | 0.7376 | -6 | c.399 others(23): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33045804 | CACTGCA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(19): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0021 others(89): Show |
115 | 418 | 0.2751 | -6 | c.*14 others(17): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 1483 | chr9 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188295 | AAATAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0023 others(21): Show |
63 | 438 | 0.1438 | -6 | c.-10 others(23): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063113 | ATATTGT | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 a0001c0001t0006g0100 a0001c0001t0006g0121 others(2): Show |
5 | 264 | 0.0189 | -6 | c.56- others(21): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATA | T | intron_variant | MODIFIER | HG01168.hp1 HG02723.hp1 HG03492.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0098 a0001c0001t0001g0125 a0001c0001t0002g0241 others(5): Show |
8 | 264 | 0.0303 | -6 | c.56- others(21): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99076834 | CATGTGT | C | intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0002g0218 |
3 | 264 | 0.0114 | -6 | c.56- others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99097998 | ATCTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0003g0181 a0001c0001t0005g0007 a0001c0001t0005g0010 others(13): Show |
17 | 264 | 0.0644 | -6 | c.56- others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99108611 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02886.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0001t0026others(2): Show | a0001c0001t0003g0140 a0001c0001t0003g0177 a0001c0001t0003g0178 others(8): Show |
11 | 264 | 0.0417 | -6 | c.55+ others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99122643 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(148): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 others(148): Show |
151 | 264 | 0.5720 | -6 | c.55+ others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99125398 | CTGTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0035 | a0001c0001t0014g0197 a0001c0001t0014g0198 a0001c0001t0014g0199 others(1): Show |
4 | 264 | 0.0152 | -6 | c.55+ others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99126268 | CTTAATA | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0122 a0001c0001t0010g0001 a0001c0001t0010g0250 others(1): Show |
5 | 264 | 0.0189 | -6 | c.55+ others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99146711 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00738.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0156 others(19): Show |
22 | 264 | 0.0833 | -6 | c.-29 others(17): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2604 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64540759 | GTATATA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0025a0001c0002t0004others(3): Show | a0001c0001t0021g0032 a0001c0001t0021g0033 a0001c0001t0025g0001 others(10): Show |
13 | 174 | 0.0747 | -6 | c.*50 others(17): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1522 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573125 | AGAGGAG | A | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01346.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(12): Show | a0001c0001t0001g0113 a0001c0001t0003g0116 a0001c0001t0018g0037 others(26): Show |
29 | 174 | 0.1667 | -6 | c.858 others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573252 | GGGAGGA | G | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01069.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(10): Show | a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0046 others(43): Show |
46 | 174 | 0.2644 | -6 | c.858 others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64613673 | AGTGTGT | A | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0008g0101 others(3): Show |
6 | 174 | 0.0345 | -6 | c.53- others(21): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64621903 | AAATAAT | A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0115 a0001c0001t0035g0112 |
2 | 174 | 0.0115 | -6 | c.53- others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64621982 | TAATAAA | T | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0061 a0001c0001t0002g0029 a0001c0001t0002g0045 others(24): Show |
27 | 174 | 0.1552 | -6 | c.53- others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64648058 | TAAAAAA | T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0018a0001c0001t0021a0001c0001t0039others(4): Show | a0001c0001t0018g0037 a0001c0001t0021g0032 a0001c0001t0021g0033 others(8): Show |
11 | 174 | 0.0632 | -6 | c.52+ others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88075564 | GTCTCAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(191): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0298 a0001c0001t0002g0002 a0001c0001t0002g0004 others(174): Show |
194 | 338 | 0.5740 | -6 | c.137 others(23): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214292089 | TGAGAGA | T | intron_variant | MODIFIER | HG02040.hp2 HG02056.hp1 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 others(2): Show |
5 | 380 | 0.0132 | -6 | c.173 others(25): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTG | T | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00738.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0223 others(18): Show |
22 | 380 | 0.0579 | -6 | c.173 others(25): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245751566 | GAGAGAA | G | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01433.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(27): Show |
30 | 150 | 0.2000 | -6 | c.118 others(25): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245791952 | TTGTGTG | T | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(5): Show | a0001c0001t0001g0018 a0001c0001t0002g0017 a0001c0006t0001g0025 others(7): Show |
10 | 150 | 0.0667 | -6 | c.107 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar |