regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM26_chr20_18562432_18574560 | 18566286 | AT | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007 | 8 | 440 | 0.0182 | -1 | c.-11 others(6): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 1145 | chr20 | TogoVar | ||||||
SMIM26_chr20_18562432_18574560 | 18567649 | TC | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0003g0002 | 86 | 440 | 0.1955 | -1 | c.118 others(7): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SMIM26_chr20_18562432_18574560 | 18567676 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0014 | 56 | 440 | 0.1273 | -1 | c.118 others(7): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
SMIM26_chr20_18562432_18574560 | 18569204 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(153): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0019others(1): Show | 156 | 440 | 0.3546 | -1 | c.119 others(7): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SMIM26_chr20_18562432_18574560 | 18569574 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(245): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(9): Show | 248 | 440 | 0.5636 | -1 | c.*17 others(5): Show |
SMIM26 | ENSG00000232388.5 | transcript | ENST00000411646.2 | protein_coding | 15 | chr20 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32547999 | AT | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01255.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 37 | 386 | 0.0959 | -1 | c.-44 others(6): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 4327 | chr9 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32552174 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(180): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 183 | 386 | 0.4741 | -1 | c.-26 others(5): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 152 | chr9 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32556090 | CG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(177): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0004t0001g0001others(1): Show | 180 | 386 | 0.4663 | -1 | c.*31 others(6): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 3084 | chr9 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32557162 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0004t0001g0001others(1): Show | 145 | 386 | 0.3757 | -1 | c.*42 others(6): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 4156 | chr9 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32557338 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(172): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0004t0001g0001others(1): Show | 175 | 386 | 0.4534 | -1 | c.*44 others(6): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 4332 | chr9 | TogoVar | ||||||
SMIM27_chr9_32547327_32558007 | 32557489 | CT | C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 386 | 0.0259 | -1 | c.*45 others(6): Show |
SMIM27 | ENSG00000235453.12 | transcript | ENST00000692500.1 | protein_coding | 4483 | chr9 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138373152 | GA | G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01346.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0008others(7): Show | a0001c0001t0001g0031a0001c0001t0004g0002a0001c0005t0008g0030others(23): Show | 69 | 374 | 0.1845 | -1 | c.-49 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 4752 | chr6 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138375914 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01099.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0002c0003t0002g0006 | 13 | 374 | 0.0348 | -1 | c.-21 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 1990 | chr6 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138382396 | CA | C | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0047a0001c0001t0001g0053others(1): Show | 7 | 374 | 0.0187 | -1 | c.112 others(7): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM28_chr6_138372905_138388486 | 138383159 | GA | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(55): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0007 | a0002c0002t0002a0002c0002t0012a0002c0003t0002others(1): Show | a0002c0002t0002g0003a0002c0002t0002g0013a0002c0002t0002g0014others(14): Show | 58 | 374 | 0.1551 | -1 | c.*32 others(5): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 2/2 | 325 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMIM28_chr6_138372905_138388486 | 138384290 | TA | T | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02818.hp2 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015a0002c0002t0002g0043 | 3 | 374 | 0.0080 | -1 | c.*14 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 805 | chr6 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138385198 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(243): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(51): Show | 246 | 374 | 0.6578 | -1 | c.*23 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 1713 | chr6 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138386300 | CT | C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02258.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0010g0001 | 11 | 374 | 0.0294 | -1 | c.*34 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 2815 | chr6 | TogoVar | ||||||
SMIM28_chr6_138372905_138388486 | 138387219 | TA | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01099.hp2 others(78): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0008a0001c0005t0011others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0047a0001c0005t0008g0030others(26): Show | 81 | 374 | 0.2166 | -1 | c.*43 others(6): Show |
SMIM28 | ENSG00000262543.2 | transcript | ENST00000573100.2 | protein_coding | 3734 | chr6 | TogoVar | ||||||
SMIM29_chr6_34241395_34254006 | 34243564 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(272): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(18): Show | 275 | 354 | 0.7768 | -1 | c.*32 others(6): Show |
SMIM29 | ENSG00000186577.14 | transcript | ENST00000476320.6 | protein_coding | 2830 | chr6 | TogoVar | ||||||
SMIM29_chr6_34241395_34254006 | 34251071 | CA | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG02273.hp2 HG02622.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0002g0003others(3): Show | 21 | 354 | 0.0593 | -1 | c.-21 others(6): Show |
SMIM29 | ENSG00000186577.14 | transcript | ENST00000476320.6 | protein_coding | 2066 | chr6 | TogoVar | ||||||
SMIM29_chr6_34241395_34254006 | 34253474 | CA | C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01192.hp2 HG01255.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0002g0003others(5): Show | 26 | 354 | 0.0735 | -1 | c.-45 others(6): Show |
SMIM29 | ENSG00000186577.14 | transcript | ENST00000476320.6 | protein_coding | 4469 | chr6 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44138260 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(361): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(135): Show | 364 | 380 | 0.9579 | -1 | c.*56 others(6): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 4889 | chr13 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44143602 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(108): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0011others(32): Show | 111 | 380 | 0.2921 | -1 | c.*31 others(5): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 3/3 | 315 | chr13 | TogoVar | |||||
SMIM2_chr13_44138150_44166257 | 44145219 | GA | G | intron_variant | MODIFIER | HG01516.hp1 HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046a0001c0001t0002g0116 | 3 | 380 | 0.0079 | -1 | c.254 others(9): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44147224 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00609.hp2 others(122): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0038a0001c0001t0001g0043others(37): Show | 125 | 380 | 0.3290 | -1 | c.254 others(9): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44154555 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0028others(8): Show | 20 | 380 | 0.0526 | -1 | c.253 others(9): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44160251 | GT | G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 4 | 380 | 0.0105 | -1 | c.253 others(8): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
SMIM2_chr13_44138150_44166257 | 44162316 | CA | C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012a0001c0001t0004g0025a0001c0001t0004g0050 | 7 | 380 | 0.0184 | -1 | c.-12 others(6): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1060 | chr13 | TogoVar | ||||||
SMIM30_chr7_113111718_113123554 | 113113728 | GT | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(103): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0004others(5): Show | 106 | 336 | 0.3155 | -1 | c.*36 others(6): Show |
SMIM30 | ENSG00000214194.9 | transcript | ENST00000397764.8 | protein_coding | 2989 | chr7 | TogoVar | ||||||
SMIM30_chr7_113111718_113123554 | 113119230 | TA | T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 5 | 336 | 0.0149 | -1 | c.-82 others(5): Show |
SMIM30 | ENSG00000214194.9 | transcript | ENST00000397764.8 | protein_coding | 677 | chr7 | TogoVar | ||||||
SMIM30_chr7_113111718_113123554 | 113120758 | GA | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01070.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0004others(2): Show | 43 | 336 | 0.1280 | -1 | c.-23 others(6): Show |
SMIM30 | ENSG00000214194.9 | transcript | ENST00000397764.8 | protein_coding | 2205 | chr7 | TogoVar | ||||||
SMIM30_chr7_113111718_113123554 | 113121240 | TG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0005others(4): Show | 109 | 336 | 0.3244 | -1 | c.-28 others(6): Show |
SMIM30 | ENSG00000214194.9 | transcript | ENST00000397764.8 | protein_coding | 2687 | chr7 | TogoVar | ||||||
SMIM30_chr7_113111718_113123554 | 113122655 | TA | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0002g0004others(5): Show | 105 | 336 | 0.3125 | -1 | c.-42 others(6): Show |
SMIM30 | ENSG00000214194.9 | transcript | ENST00000397764.8 | protein_coding | 4102 | chr7 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164749438 | CA | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01123.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0002g0030a0001c0001t0003g0032a0001c0001t0003g0244others(15): Show | 18 | 364 | 0.0495 | -1 | c.-49 others(6): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 4692 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164749953 | AG | A | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0011g0149others(9): Show | 12 | 364 | 0.0330 | -1 | c.-44 others(6): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 4177 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164753291 | CA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp1 HG01255.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0051a0001c0001t0001g0262a0001c0001t0001g0269others(34): Show | 37 | 364 | 0.1017 | -1 | c.-11 others(6): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 839 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164753312 | AT | A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00735.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0243a0001c0001t0001g0245a0001c0001t0001g0266others(39): Show | 42 | 364 | 0.1154 | -1 | c.-11 others(6): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 818 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164754095 | GA | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00735.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(16): Show | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0006g0168others(51): Show | 54 | 364 | 0.1484 | -1 | c.-34 others(5): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 35 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164754456 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0277a0001c0001t0001g0285a0001c0001t0001g0286others(84): Show | 87 | 364 | 0.2390 | -1 | c.-26 others(7): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164754471 | TA | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(5): Show | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0011g0149others(6): Show | 9 | 364 | 0.0247 | -1 | c.-26 others(7): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164754551 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0269a0001c0001t0001g0277a0001c0001t0001g0285others(59): Show | 62 | 364 | 0.1703 | -1 | c.-26 others(8): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164757406 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(160): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0213others(159): Show | 163 | 364 | 0.4478 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164757521 | CT | C | intron_variant | MODIFIER | HG01123.hp1 HG01884.hp1 HG02055.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0002g0123a0001c0001t0003g0152a0001c0001t0003g0153others(13): Show | 16 | 364 | 0.0440 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164758091 | TA | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00735.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(16): Show | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0006g0168others(51): Show | 54 | 364 | 0.1484 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164760568 | TA | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00735.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0003g0152a0001c0001t0003g0153a0001c0001t0006g0168others(50): Show | 53 | 364 | 0.1456 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164760738 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0054others(148): Show | 151 | 364 | 0.4148 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164761762 | CA | C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0006a0001c0002t0016 | a0001c0001t0029g0048a0001c0002t0006g0165a0001c0002t0006g0166others(6): Show | 9 | 364 | 0.0247 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164762235 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(162): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0210a0001c0001t0001g0211a0001c0001t0001g0213others(161): Show | 165 | 364 | 0.4533 | -1 | c.-26 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SMIM31_chr4_164749131_164808795 | 164762662 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(91): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0037a0001c0001t0001g0148a0001c0001t0001g0269others(91): Show | 94 | 364 | 0.2582 | -1 | c.-25 others(9): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |