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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMC1A_chrX_53369149_53427654 | 53394408 | GC | G | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0143 | 1 | 213 | 0.0047 | -1 | c.297 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 19/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53395235 | TG | T | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53395602 | TG | T | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53395677 | TC | T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53395728 | TG | T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396115 | AC | A | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396122 | GC | G | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.286 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396178 | TG | T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.286 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396337 | TG | T | frameshift_variant | HIGH | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.275 others(5): Show |
p.Lys others(5): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 18/25 | 2805/9710 | 2751/3702 | 917/1233 | chrX | TogoVar | ||
SMC1A_chrX_53369149_53427654 | 53396393 | CA | C | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.270 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 17/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396542 | TG | T | frameshift_variant | HIGH | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.263 others(5): Show |
p.Lys others(5): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 17/25 | 2691/9710 | 2637/3702 | 879/1233 | chrX | TogoVar | ||
SMC1A_chrX_53369149_53427654 | 53396665 | CT | C | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.256 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396709 | GT | G | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.256 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53396810 | AT | A | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.256 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53397044 | TG | T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.256 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53397063 | TG | T | intron_variant | MODIFIER | HG01433.hp1 HG03453.hp2 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0054a0001c0001t0001g0062others(1): Show | 4 | 213 | 0.0188 | -1 | c.256 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53397328 | TC | T | intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0128 | 1 | 213 | 0.0047 | -1 | c.256 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53397580 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(129): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0015others(128): Show | 132 | 213 | 0.6197 | -1 | c.256 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53398183 | CA | C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0021a0001c0001t0001g0050others(2): Show | 5 | 213 | 0.0235 | -1 | c.256 others(10): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 16/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53401910 | CT | C | intron_variant | MODIFIER | NA18960.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0082a0001c0001t0002g0182 | 2 | 213 | 0.0094 | -1 | c.242 others(10): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53402553 | TA | T | intron_variant | MODIFIER | HG01981.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0038 | 2 | 213 | 0.0094 | -1 | c.242 others(10): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53403171 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(171): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(166): Show | 174 | 213 | 0.8169 | -1 | c.242 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53403214 | TA | T | intron_variant | MODIFIER | HG01069.hp1 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0002g0167 | 2 | 213 | 0.0094 | -1 | c.242 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 15/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53408840 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0017others(185): Show | 193 | 213 | 0.9061 | -1 | c.154 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 9/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53410926 | CA | C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 213 | 0.0047 | -1 | c.125 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 7/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53414075 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(196): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0015others(191): Show | 199 | 213 | 0.9343 | -1 | c.412 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 3/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53415622 | GT | G | intron_variant | MODIFIER | HG00673.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077 | 2 | 213 | 0.0094 | -1 | c.110 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53415666 | CA | C | intron_variant | MODIFIER | HG01169.hp2 HG02280.hp2 HG03490.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0080a0001c0001t0001g0093a0001c0001t0001g0116others(3): Show | 6 | 213 | 0.0282 | -1 | c.110 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53415843 | GA | G | intron_variant | MODIFIER | HG03017.hp1 NA18962.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026 | 3 | 213 | 0.0141 | -1 | c.110 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53417551 | CA | C | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp2 HG01884.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0116a0001c0001t0002g0146others(5): Show | 8 | 213 | 0.0376 | -1 | c.110 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53419040 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(67): Show | 74 | 213 | 0.3474 | -1 | c.109 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53419823 | CA | C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 213 | 0.0047 | -1 | c.109 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53420521 | CA | C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 213 | 0.0047 | -1 | c.109 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53420915 | TA | T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0142 | 1 | 213 | 0.0047 | -1 | c.109 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53421136 | CT | C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 213 | 0.0047 | -1 | c.109 others(9): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53421531 | CA | C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 213 | 0.0047 | -1 | c.109 others(8): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 1/24 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53423023 | CT | C | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 213 | 0.0047 | -1 | c.-42 others(5): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 370 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53423577 | TC | T | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 213 | 0.0047 | -1 | c.-97 others(5): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 924 | chrX | TogoVar | ||||||
SMC1A_chrX_53369149_53427654 | 53425515 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0016others(125): Show | 131 | 213 | 0.6150 | -1 | c.-29 others(6): Show |
SMC1A | ENSG00000072501.19 | transcript | ENST00000322213.9 | protein_coding | 2862 | chrX | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45340808 | CT | C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG02559.hp1 HG02886.hp2 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014a0001c0002t0001g0182a0001c0002t0001g0190others(14): Show | 18 | 360 | 0.0500 | -1 | c.*37 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 3254 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45343531 | CT | C | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp2 HG01109.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0001a0004c0005others(2): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0006others(3): Show | a0001c0002t0001g0050a0001c0002t0001g0219a0001c0002t0001g0227others(25): Show | 29 | 360 | 0.0806 | -1 | c.*10 others(6): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 531 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45349015 | AT | A | intron_variant | MODIFIER | HG01358.hp2 HG01884.hp1 HG01943.hp1 others(7): Show |
a0001a0003a0004 | a0001c0002a0001c0010a0003c0003others(1): Show | a0001c0002t0001a0001c0010t0001a0003c0003t0001others(1): Show | a0001c0002t0001g0038a0001c0002t0001g0061a0001c0002t0001g0180others(7): Show | 10 | 360 | 0.0278 | -1 | c.349 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 23/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45352220 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(92): Show |
a0002 | a0002c0001a0002c0019 | a0002c0001t0002a0002c0001t0006a0002c0019t0002 | a0002c0001t0002g0001a0002c0001t0002g0006a0002c0001t0002g0007others(83): Show | 95 | 360 | 0.2639 | -1 | c.342 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 22/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45353261 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(285): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0007a0002c0001others(13): Show | a0001c0002t0001a0001c0007t0001a0002c0001t0002others(16): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(265): Show | 288 | 360 | 0.8000 | -1 | c.327 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 21/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45353290 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(293): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0007a0001c0010others(14): Show | a0001c0002t0001a0001c0002t0005a0001c0007t0001others(18): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(273): Show | 296 | 360 | 0.8222 | -1 | c.327 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 21/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45353893 | CA | C | intron_variant | MODIFIER | HG00423.hp1 HG01928.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0036a0001c0004t0003g0149a0001c0004t0003g0150others(4): Show | 7 | 360 | 0.0194 | -1 | c.327 others(8): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 21/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45356162 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0004others(20): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(283): Show | 306 | 360 | 0.8500 | -1 | c.296 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 19/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45356727 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0003a0002c0001t0002others(1): Show | a0001c0002t0001g0195a0001c0002t0001g0212a0001c0002t0001g0334others(5): Show | 8 | 360 | 0.0222 | -1 | c.296 others(10): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 19/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45360607 | GT | G | intron_variant | MODIFIER | HG01175.hp1 HG02622.hp2 HG02970.hp2 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0021a0004c0005t0001g0183a0004c0005t0001g0184others(3): Show | 6 | 360 | 0.0167 | -1 | c.270 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 17/24 | chr22 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45360973 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(290): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0010a0002c0001others(13): Show | a0001c0002t0001a0001c0002t0005a0001c0010t0001others(17): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0014others(270): Show | 293 | 360 | 0.8139 | -1 | c.270 others(9): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 17/24 | chr22 | TogoVar |