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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMC1B_chr22_45339063_45418599 | 45368737 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(191): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0010a0003c0003others(11): Show | a0001c0002t0001a0001c0002t0005a0001c0010t0001others(14): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(180): Show | 194 | 360 | 0.5389 | -1 | c.242 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 15/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45369542 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(253): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0007others(17): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(239): Show | 256 | 360 | 0.7111 | -1 | c.242 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 15/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45374090 | GT | G | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(25): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0004a0001c0007others(5): Show | a0001c0002t0001a0001c0004t0003a0001c0007t0001others(5): Show | a0001c0002t0001g0145a0001c0002t0001g0164a0001c0002t0001g0176others(23): Show | 28 | 360 | 0.0778 | -1 | c.205 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 12/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45377636 | CA | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(62): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0004a0001c0007others(7): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0004others(9): Show | a0001c0002t0001g0029a0001c0004t0003g0017a0001c0004t0003g0019others(59): Show | 65 | 360 | 0.1806 | -1 | c.205 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 12/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45378554 | TA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(51): Show |
a0001a0012a0016 | a0001c0004a0001c0008a0012c0022others(1): Show | a0001c0004t0003a0001c0004t0004a0001c0008t0003others(2): Show | a0001c0004t0003g0017a0001c0004t0003g0019a0001c0004t0003g0035others(48): Show | 54 | 360 | 0.1500 | -1 | c.205 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 12/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45380960 | CT | C | intron_variant | MODIFIER | HG01257.hp2 HG01891.hp1 HG02056.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0176a0001c0002t0001g0177a0001c0002t0001g0178others(3): Show | 6 | 360 | 0.0167 | -1 | c.205 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 12/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45390703 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(256): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0007others(17): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(242): Show | 259 | 360 | 0.7194 | -1 | c.154 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 9/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45391064 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(54): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0004a0001c0008others(5): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0004others(6): Show | a0001c0002t0001g0216a0001c0004t0003g0017a0001c0004t0003g0019others(51): Show | 57 | 360 | 0.1583 | -1 | c.154 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 9/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45392403 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG02723.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0001a0003c0003others(2): Show | a0001c0007t0001a0002c0001t0002a0003c0003t0001others(2): Show | a0001c0007t0001g0030a0001c0007t0001g0031a0001c0007t0001g0032others(9): Show | 12 | 360 | 0.0333 | -1 | c.154 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 9/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45397130 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(199): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0007a0001c0010others(12): Show | a0001c0002t0001a0001c0002t0005a0001c0007t0001others(16): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(188): Show | 202 | 360 | 0.5611 | -1 | c.111 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 6/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45407466 | CT | C | intron_variant | MODIFIER | HG01943.hp1 HG02486.hp1 HG02647.hp2 others(7): Show |
a0001a0007 | a0001c0002a0001c0010a0007c0011 | a0001c0002t0001a0001c0010t0001a0007c0011t0001 | a0001c0002t0001g0050a0001c0002t0001g0216a0001c0010t0001g0042others(7): Show | 10 | 360 | 0.0278 | -1 | c.299 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 2/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45409608 | AT | A | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02074.hp1 others(14): Show |
a0001a0003a0007 | a0001c0002a0001c0004a0001c0007others(2): Show | a0001c0002t0001a0001c0004t0003a0001c0007t0004others(2): Show | a0001c0002t0001g0107a0001c0002t0001g0240a0001c0002t0001g0295others(14): Show | 17 | 360 | 0.0472 | -1 | c.110 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45409609 | TA | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00738.hp1 others(46): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0010a0003c0003others(4): Show | a0001c0002t0001a0001c0010t0001a0003c0003t0001others(4): Show | a0001c0002t0001g0060a0001c0002t0001g0063a0001c0002t0001g0064others(43): Show | 49 | 360 | 0.1361 | -1 | c.110 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45412498 | CT | C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01175.hp1 others(18): Show |
a0001a0004a0009others(1): Show | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0001a0001c0004t0003a0001c0007t0001others(5): Show | a0001c0002t0001g0060a0001c0002t0001g0180a0001c0002t0001g0182others(18): Show | 21 | 360 | 0.0583 | -1 | c.109 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45413057 | TG | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(206): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0007others(14): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(18): Show | a0001c0002t0001g0014a0001c0002t0001g0015a0001c0002t0001g0024others(198): Show | 209 | 360 | 0.5806 | -1 | c.109 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45413363 | CG | C | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0334a0001c0002t0001g0335a0001c0002t0001g0336 | 3 | 360 | 0.0083 | -1 | c.109 others(7): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45415199 | GA | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp2 others(110): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0008others(8): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0004others(10): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0054others(100): Show | 113 | 360 | 0.3139 | -1 | c.-16 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 1601 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45416899 | GT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(123): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0004a0001c0007others(11): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(13): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(120): Show | 126 | 360 | 0.3500 | -1 | c.-33 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 3301 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45417553 | AT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(266): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0004a0001c0007others(17): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(21): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(252): Show | 269 | 360 | 0.7472 | -1 | c.-39 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 3955 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45418006 | GT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(207): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(19): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(196): Show | 210 | 360 | 0.5833 | -1 | c.-44 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 4408 | chr22 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104093580 | AG | A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01106.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0002a0001c0001t0035a0001c0003t0027others(2): Show | a0001c0001t0002g0008a0001c0001t0002g0016a0001c0001t0002g0017others(11): Show | 23 | 278 | 0.0827 | -1 | c.-95 others(5): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 728 | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104097420 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(133): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0122a0001c0001t0002g0002a0001c0001t0002g0003others(83): Show | 136 | 278 | 0.4892 | -1 | c.319 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104097508 | GA | G | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp1 HG02922.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0002a0001c0003t0004a0001c0007t0001others(2): Show | a0001c0001t0002g0102a0001c0003t0004g0053a0001c0007t0001g0041others(4): Show | 8 | 278 | 0.0288 | -1 | c.319 others(8): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104097930 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0005a0001c0001t0032a0001c0001t0033others(3): Show | a0001c0001t0005g0007a0001c0001t0005g0026a0001c0001t0005g0027others(12): Show | 20 | 278 | 0.0719 | -1 | c.319 others(8): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 3/24 | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104098837 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02572.hp2 others(20): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0013a0001c0003t0017others(1): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(12): Show | 23 | 278 | 0.0827 | -1 | c.441 others(8): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104101906 | AT | A | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(27): Show |
a0001a0005a0006 | a0001c0003a0005c0006a0006c0012 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(4): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(19): Show | 30 | 278 | 0.1079 | -1 | c.637 others(7): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104114569 | AT | A | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.153 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104115246 | GT | G | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.167 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104115584 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.167 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104121495 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.213 others(10): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104122470 | GT | G | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0002a0001c0003t0004a0001c0003t0008others(4): Show | a0001c0001t0002g0092a0001c0003t0004g0006a0001c0003t0004g0013others(18): Show | 29 | 278 | 0.1043 | -1 | c.213 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104124279 | GT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00609.hp1 others(16): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0005a0001c0001t0032a0001c0001t0033others(2): Show | a0001c0001t0005g0007a0001c0001t0005g0026a0001c0001t0005g0027others(11): Show | 19 | 278 | 0.0684 | -1 | c.225 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104124623 | AT | A | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02132.hp2 others(26): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0006 | a0001c0002t0001a0001c0003t0004a0001c0003t0008others(3): Show | a0001c0002t0001g0132a0001c0003t0004g0006a0001c0003t0004g0013others(18): Show | 29 | 278 | 0.1043 | -1 | c.225 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104125891 | TC | T | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp2 HG03486.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0009a0003c0004t0025 | a0003c0004t0009g0024a0003c0004t0009g0040a0003c0004t0025g0072 | 4 | 278 | 0.0144 | -1 | c.245 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 18/24 | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104125949 | AC | A | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.245 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104127019 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.259 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104130586 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.299 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104131650 | CT | C | intron_variant | MODIFIER | HG02132.hp2 HG02280.hp2 HG02572.hp2 others(18): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0008 | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(10): Show | 21 | 278 | 0.0755 | -1 | c.299 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104131707 | CA | C | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG03130.hp2 others(2): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0013a0001c0003t0017a0005c0006t0012 | a0001c0003t0013g0048a0001c0003t0013g0050a0001c0003t0017g0049others(2): Show | 5 | 278 | 0.0180 | -1 | c.299 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104136686 | GT | G | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02280.hp2 others(26): Show |
a0001a0005 | a0001c0003a0005c0006 | a0001c0003t0004a0001c0003t0008a0001c0003t0013others(3): Show | a0001c0003t0004g0006a0001c0003t0004g0013a0001c0003t0004g0022others(18): Show | 29 | 278 | 0.1043 | -1 | c.327 others(10): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104137670 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(161): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0122a0001c0001t0002g0002a0001c0001t0002g0003others(103): Show | 164 | 278 | 0.5899 | -1 | c.327 others(9): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC2_chr9_104089309_104146419 | 104144685 | TG | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0013 | a0001c0003t0004g0037a0001c0003t0004g0054a0001c0003t0013g0048others(1): Show | 4 | 278 | 0.0144 | -1 | c.*53 others(6): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 3267 | chr9 | TogoVar | ||||||
SMC2_chr9_104089309_104146419 | 104146140 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0008others(74): Show | 120 | 278 | 0.4317 | -1 | c.*68 others(6): Show |
SMC2 | ENSG00000136824.19 | transcript | ENST00000374793.8 | protein_coding | 4722 | chr9 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110566317 | CA | C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02723.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0017others(1): Show | a0001c0001t0003g0012a0001c0001t0003g0169a0001c0001t0003g0194others(8): Show | 14 | 328 | 0.0427 | -1 | c.-14 others(6): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 1377 | chr10 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110569375 | TC | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0031a0001c0001t0003g0119others(8): Show | 13 | 328 | 0.0396 | -1 | c.91+ others(7): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110570430 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(310): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(225): Show | 313 | 328 | 0.9543 | -1 | c.91+ others(8): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110576868 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0034 | 3 | 328 | 0.0092 | -1 | c.199 others(8): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 4/28 | chr10 | TogoVar | ||||||
SMC3_chr10_110562695_110611048 | 110581216 | CT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(225): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(162): Show | 228 | 328 | 0.6951 | -1 | c.547 others(8): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110585290 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01256.hp2 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0061a0001c0001t0003g0012a0001c0001t0003g0032others(17): Show | 25 | 328 | 0.0762 | -1 | c.130 others(9): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SMC3_chr10_110562695_110611048 | 110587689 | GA | G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003a0001c0002t0006 | a0001c0001t0003g0030a0001c0001t0003g0031a0001c0001t0003g0216others(20): Show | 28 | 328 | 0.0854 | -1 | c.130 others(10): Show |
SMC3 | ENSG00000108055.11 | transcript | ENST00000361804.5 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |