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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMC3_chr10_110562695_110611048 | 110592263 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(166): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 169 | 328 | 0.5152 | -1 | c.181 others(9): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110596222 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01192.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(57): Show | 85 | 328 | 0.2592 | -1 | c.196 others(9): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110596862 | GT | G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01081.hp1 others(87): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(62): Show | 90 | 328 | 0.2744 | -1 | c.211 others(9): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110597143 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(200): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(142): Show | 203 | 328 | 0.6189 | -1 | c.211 others(9): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110600557 | GT | G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01069.hp1 others(101): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0050a0001c0001t0002g0002a0001c0001t0002g0006others(74): Show | 104 | 328 | 0.3171 | -1 | c.253 others(8): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110607667 | AC | A | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01975.hp1 HG02040.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0073others(17): Show | 26 | 328 | 0.0793 | -1 | c.*33 others(6): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 1620 | chr10 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110608417 | CT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(99): Show | 135 | 328 | 0.4116 | -1 | c.*41 others(6): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 2370 | chr10 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110608433 | CT | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(132): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(99): Show | 135 | 328 | 0.4116 | -1 | c.*41 others(6): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 2386 | chr10 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160394756 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(25): Show |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0003a0001c0001t0012a0009c0017t0003 | a0001c0001t0003g0003a0001c0001t0003g0018a0001c0001t0003g0019others(14): Show | 28 | 332 | 0.0843 | -1 | c.-49 others(6): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 4893 | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160397716 | CT | C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02809.hp2 NA18946.hp2 others(3): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0019t0003 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0153others(3): Show | 6 | 332 | 0.0181 | -1 | c.-20 others(6): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 1933 | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160402385 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01069.hp2 others(47): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0004g0008a0001c0001t0004g0025a0001c0001t0004g0026others(33): Show | 50 | 332 | 0.1506 | -1 | c.319 others(8): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160409265 | CA | C | intron_variant | MODIFIER | HG01168.hp1 HG02109.hp1 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0032a0001c0001t0001g0062others(2): Show | 8 | 332 | 0.0241 | -1 | c.688 others(9): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160409352 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(162): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0013others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0009others(113): Show | 165 | 332 | 0.4970 | -1 | c.688 others(9): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160413448 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG02738.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(2): Show | a0001c0001t0001g0164a0001c0001t0003g0055a0001c0001t0015g0200others(9): Show | 13 | 332 | 0.0392 | -1 | c.981 others(7): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160419952 | TA | T | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006a0001c0001t0007g0042 | 8 | 332 | 0.0241 | -1 | c.185 others(9): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160423358 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(40): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0017others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(3): Show | a0001c0001t0002g0101a0001c0001t0002g0102a0001c0001t0002g0108others(27): Show | 43 | 332 | 0.1295 | -1 | c.202 others(8): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 13/23 | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160423677 | GT | G | intron_variant | MODIFIER | NA18939.hp1 NA18959.hp2 NA18983.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0108a0003c0003t0002g0027a0003c0003t0002g0074others(3): Show | 7 | 332 | 0.0211 | -1 | c.224 others(8): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160426231 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG02486.hp1 HG02615.hp1 others(6): Show |
a0001a0012 | a0001c0001a0001c0019a0012c0015 | a0001c0001t0001a0001c0001t0006a0001c0019t0003others(1): Show | a0001c0001t0001g0160a0001c0001t0006g0023a0001c0001t0006g0051others(5): Show | 9 | 332 | 0.0271 | -1 | c.260 others(8): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMC4_chr3_160394650_160439953 | 160435111 | GA | G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0111 | 3 | 332 | 0.0090 | -1 | c.*13 others(6): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 159 | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160435112 | AT | A | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02897.hp1 HG03239.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0019a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0146a0001c0001t0001g0152a0001c0001t0003g0018others(3): Show | 6 | 332 | 0.0181 | -1 | c.*13 others(6): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 160 | chr3 | TogoVar | ||||||
SMC4_chr3_160394650_160439953 | 160436797 | CA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00738.hp1 others(68): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0013a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0062a0001c0001t0001g0201others(49): Show | 71 | 332 | 0.2139 | -1 | c.*29 others(6): Show |
SMC4 | ENSG00000113810.16 | transcript | ENST00000357388.8 | protein_coding | 1845 | chr3 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70255700 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(57): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0021others(1): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0019others(3): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(53): Show | 60 | 366 | 0.1639 | -1 | c.-33 others(6): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 3277 | chr9 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70257231 | TA | T | upstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG00741.hp1 others(35): Show |
a0002a0003a0004 | a0002c0002a0002c0009a0002c0013others(2): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0022others(5): Show | a0002c0002t0001g0006a0002c0002t0001g0071a0002c0002t0001g0072others(33): Show | 38 | 366 | 0.1038 | -1 | c.-18 others(6): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 1746 | chr9 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70259927 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(120): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0009others(10): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0004others(16): Show | a0001c0001t0002g0105a0002c0002t0001g0002a0002c0002t0001g0004others(114): Show | 123 | 366 | 0.3361 | -1 | c.185 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70264748 | AC | A | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01256.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0022 | a0002c0002t0001g0006a0002c0002t0001g0071a0002c0002t0001g0072others(23): Show | 28 | 366 | 0.0765 | -1 | c.327 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70267032 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(123): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0009others(8): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0004others(15): Show | a0001c0001t0002g0204a0001c0001t0002g0205a0001c0001t0002g0206others(117): Show | 126 | 366 | 0.3443 | -1 | c.328 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70270642 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(65): Show |
a0001a0003a0011 | a0001c0001a0001c0010a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0023others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0115others(61): Show | 68 | 366 | 0.1858 | -1 | c.380 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70275998 | TG | T | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp1 HG02809.hp1 others(2): Show |
a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0100a0004c0008t0005g0101a0004c0008t0005g0102others(2): Show | 5 | 366 | 0.0137 | -1 | c.381 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
SMC5_chr9_70253978_70359873 | 70278382 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(156): Show |
a0001a0005a0010others(1): Show | a0001c0001a0001c0010a0005c0007others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0011others(147): Show | 159 | 366 | 0.4344 | -1 | c.544 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70279817 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00673.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0005t0003others(6): Show | a0001c0001t0002g0250a0001c0001t0002g0251a0001c0001t0002g0261others(30): Show | 35 | 366 | 0.0956 | -1 | c.679 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70281842 | CT | C | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01256.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0022 | a0002c0002t0001g0006a0002c0002t0001g0071a0002c0002t0001g0072others(23): Show | 28 | 366 | 0.0765 | -1 | c.820 others(8): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70284890 | AT | A | intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG00741.hp1 others(27): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0002g0305a0002c0002t0001g0006a0002c0002t0001g0071others(25): Show | 30 | 366 | 0.0820 | -1 | c.982 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70286717 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(123): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0002a0001c0005t0003a0002c0002t0001others(14): Show | a0001c0001t0002g0123a0001c0005t0003g0018a0001c0005t0003g0019others(118): Show | 126 | 366 | 0.3443 | -1 | c.105 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70287829 | TG | T | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp1 HG01256.hp1 others(24): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0022 | a0002c0002t0001g0006a0002c0002t0001g0071a0002c0002t0001g0072others(22): Show | 27 | 366 | 0.0738 | -1 | c.105 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70291845 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(56): Show |
a0002a0008a0012 | a0002c0002a0008c0021a0012c0014 | a0002c0002t0001a0002c0002t0010a0002c0002t0019others(2): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(52): Show | 59 | 366 | 0.1612 | -1 | c.105 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70292176 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00609.hp1 others(60): Show |
a0003a0007a0014others(1): Show | a0003c0003a0007c0012a0014c0018others(1): Show | a0003c0003t0001a0003c0003t0008a0003c0003t0020others(3): Show | a0003c0003t0001g0003a0003c0003t0001g0010a0003c0003t0001g0106others(57): Show | 63 | 366 | 0.1721 | -1 | c.105 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70295301 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(291): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0010others(15): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(28): Show | a0001c0001t0002g0001a0001c0001t0002g0008a0001c0001t0002g0011others(276): Show | 294 | 366 | 0.8033 | -1 | c.105 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70299657 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(57): Show |
a0002a0004a0008others(1): Show | a0002c0002a0004c0004a0008c0021others(1): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0019others(3): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(53): Show | 60 | 366 | 0.1639 | -1 | c.131 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70308590 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(142): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(131): Show | 145 | 366 | 0.3962 | -1 | c.157 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70309318 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02080.hp2 HG02572.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0005t0003a0002c0002t0001others(2): Show | a0001c0001t0002g0208a0001c0001t0002g0211a0001c0005t0003g0019others(6): Show | 10 | 366 | 0.0273 | -1 | c.157 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70311701 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02572.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0009a0002c0013others(4): Show | a0001c0005t0003a0002c0009t0006a0002c0009t0014others(5): Show | a0001c0005t0003g0018a0001c0005t0003g0019a0001c0005t0003g0020others(11): Show | 14 | 366 | 0.0383 | -1 | c.157 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70312120 | CA | C | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG01168.hp2 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0009others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0023others(5): Show | a0001c0001t0002g0125a0001c0001t0002g0203a0001c0001t0002g0209others(31): Show | 34 | 366 | 0.0929 | -1 | c.157 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70316453 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(124): Show |
a0002a0004a0006others(4): Show | a0002c0002a0002c0009a0002c0013others(8): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0010others(15): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(118): Show | 127 | 366 | 0.3470 | -1 | c.180 others(9): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70321429 | GT | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(117): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0010a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0015others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0011a0001c0001t0002g0012others(109): Show | 120 | 366 | 0.3279 | -1 | c.215 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70326596 | CT | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00741.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0021a0002c0002t0001others(5): Show | a0001c0001t0002g0122a0001c0001t0002g0126a0001c0001t0002g0131others(41): Show | 46 | 366 | 0.1257 | -1 | c.239 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70330548 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(118): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0002a0001c0001t0007a0002c0002t0001others(15): Show | a0001c0001t0002g0131a0001c0001t0002g0217a0001c0001t0007g0290others(112): Show | 121 | 366 | 0.3306 | -1 | c.239 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70332523 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(64): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0002a0001c0005t0003a0002c0002t0001others(7): Show | a0001c0001t0002g0008a0001c0001t0002g0121a0001c0001t0002g0122others(63): Show | 67 | 366 | 0.1831 | -1 | c.239 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70337450 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(81): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0021a0001c0005t0003others(12): Show | a0001c0001t0002g0110a0001c0001t0002g0124a0001c0001t0002g0126others(78): Show | 84 | 366 | 0.2295 | -1 | c.239 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70337851 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(58): Show |
a0002a0008a0012others(1): Show | a0002c0002a0002c0009a0002c0013others(3): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0010others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0005others(54): Show | 61 | 366 | 0.1667 | -1 | c.239 others(10): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70352978 | AT | A | 3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02572.hp1 others(5): Show |
a0001a0009 | a0001c0005a0009c0019 | a0001c0005t0003a0009c0019t0003 | a0001c0005t0003g0018a0001c0005t0003g0019a0001c0005t0003g0020others(5): Show | 8 | 366 | 0.0219 | -1 | c.*64 others(5): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 25/25 | 648 | chr9 | TogoVar |