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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMIM7_chr19_16641148_16665144 | 16642823 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0019others(51): Show | 110 | 360 | 0.3056 | -1 | c.*44 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 3324 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16644118 | GT | G | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01891.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(5): Show | 10 | 360 | 0.0278 | -1 | c.*31 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 2029 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16644603 | TA | T | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0062 | 9 | 360 | 0.0250 | -1 | c.*26 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 1544 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16646118 | TA | T | downstream_gene_variant | MODIFIER | HG04184.hp1 NA18951.hp2 NA18959.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0004a0001c0001t0002g0002a0001c0001t0002g0036others(2): Show | 6 | 360 | 0.0167 | -1 | c.*11 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 29 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16650709 | CA | C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG01891.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0073a0001c0001t0001g0120others(16): Show | 36 | 360 | 0.1000 | -1 | c.212 others(9): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16654887 | GC | G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00735.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0026others(24): Show | 51 | 360 | 0.1417 | -1 | c.122 others(8): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16655680 | CA | C | intron_variant | MODIFIER | HG01168.hp1 HG01257.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0064a0001c0001t0001g0072others(6): Show | 11 | 360 | 0.0306 | -1 | c.122 others(9): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16659282 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01081.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0048others(10): Show | 28 | 360 | 0.0778 | -1 | c.121 others(8): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16662436 | CT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(27): Show | 72 | 360 | 0.2000 | -1 | c.-23 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 2293 | chr19 | TogoVar | ||||||
SMIM7_chr19_16641148_16665144 | 16664261 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(159): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0019others(75): Show | 162 | 360 | 0.4500 | -1 | c.-41 others(6): Show |
SMIM7 | ENSG00000214046.9 | transcript | ENST00000487416.7 | protein_coding | 4118 | chr19 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87318119 | AT | A | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00735.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0043others(30): Show | 48 | 420 | 0.1143 | -1 | c.-45 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 4468 | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87318611 | GT | G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0019 | a0001c0001t0007g0179a0001c0001t0018g0071a0001c0001t0019g0105others(1): Show | 5 | 420 | 0.0119 | -1 | c.-40 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3976 | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87321226 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(202): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0041a0001c0001t0001g0050a0001c0001t0001g0052others(132): Show | 205 | 420 | 0.4881 | -1 | c.-14 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 1361 | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87324652 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(146): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0008others(93): Show | 149 | 420 | 0.3548 | -1 | c.-45 others(9): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87330808 | AT | A | intron_variant | MODIFIER | HG00323.hp2 NA18942.hp1 NA18942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0020a0001c0001t0002g0181a0001c0001t0009g0198 | 6 | 420 | 0.0143 | -1 | c.-24 others(8): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM8_chr6_87317588_87347329 | 87335845 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(100): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(52): Show | 103 | 420 | 0.2452 | -1 | c.-23 others(9): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM8_chr6_87317588_87347329 | 87336735 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0022 | a0001c0001t0018g0071a0001c0001t0022g0073a0001c0001t0022g0074 | 4 | 420 | 0.0095 | -1 | c.-23 others(8): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM8_chr6_87317588_87347329 | 87338906 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG02155.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0150a0001c0001t0001g0167a0001c0001t0002g0030others(6): Show | 10 | 420 | 0.0238 | -1 | c.136 others(9): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMIM8_chr6_87317588_87347329 | 87340939 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(192): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0008others(131): Show | 195 | 420 | 0.4643 | -1 | c.*68 others(5): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 4/4 | 680 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMIM8_chr6_87317588_87347329 | 87341386 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(13): Show | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0008others(110): Show | 168 | 420 | 0.4000 | -1 | c.*11 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 4/4 | 1113 | chr6 | TogoVar | |||||
SMIM8_chr6_87317588_87347329 | 87343261 | TC | T | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0028 | 3 | 420 | 0.0071 | -1 | c.*29 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 933 | chr6 | TogoVar | ||||||
SMIM8_chr6_87317588_87347329 | 87345940 | AT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01074.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0003a0001c0002t0010others(1): Show | a0001c0001t0014g0030a0001c0001t0014g0038a0001c0002t0003g0006others(25): Show | 44 | 420 | 0.1048 | -1 | c.*56 others(6): Show |
SMIM8 | ENSG00000111850.11 | transcript | ENST00000392863.6 | protein_coding | 3612 | chr6 | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154819152 | AG | A | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 300 | 0.0033 | -1 | c.*46 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4195 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154819162 | GC | G | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -1 | c.*45 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4185 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154819879 | GC | G | downstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -1 | c.*38 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 3468 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154821887 | GT | G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 300 | 0.0033 | -1 | c.*18 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 1460 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154822576 | GA | G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 300 | 0.0033 | -1 | c.*11 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 771 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154824355 | CA | C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 300 | 0.0033 | -1 | c.273 others(8): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154825391 | CA | C | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 300 | 0.0033 | -1 | c.273 others(9): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154831725 | AT | A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-99 others(8): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 2/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154833188 | TA | T | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-20 others(9): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 1/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154833224 | TA | T | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 300 | 0.0033 | -1 | c.-20 others(9): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 1/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154834517 | GA | G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-21 others(8): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 1/4 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154835192 | TA | T | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-84 others(5): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 531 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154835201 | CT | C | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0062 | 1 | 300 | 0.0033 | -1 | c.-84 others(5): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 540 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154835960 | CT | C | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-16 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 1299 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154837303 | AG | A | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 300 | 0.0033 | -1 | c.-29 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 2642 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154837508 | CA | C | upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 300 | 0.0033 | -1 | c.-31 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 2847 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154837544 | TG | T | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -1 | c.-31 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 2883 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154838376 | CA | C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -1 | c.-40 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 3715 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154838903 | TA | T | upstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 300 | 0.0033 | -1 | c.-45 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4242 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154839118 | CT | C | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 300 | 0.0033 | -1 | c.-47 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4457 | chrX | TogoVar | ||||||
SMIM9_chrX_154818348_154839662 | 154839363 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00733.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0002g0003others(12): Show | 39 | 300 | 0.1300 | -1 | c.-50 others(6): Show |
SMIM9 | ENSG00000203870.6 | transcript | ENST00000369529.2 | protein_coding | 4702 | chrX | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129498463 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(158): Show |
a0001a0005a0006 | a0001c0001a0005c0006a0006c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(51): Show | 161 | 422 | 0.3815 | -1 | c.-43 others(6): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 4067 | chr7 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129499488 | CT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0045others(4): Show | 8 | 422 | 0.0190 | -1 | c.-33 others(6): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129500808 | GA | G | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0041 | 12 | 422 | 0.0284 | -1 | c.-20 others(6): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1722 | chr7 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129505338 | CT | C | intron_variant | MODIFIER | NA18940.hp2 NA18971.hp2 NA18977.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 7 | 422 | 0.0166 | -1 | c.3+2 others(7): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129507018 | AT | A | intron_variant | MODIFIER | HG01099.hp2 HG02451.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0024a0001c0001t0001g0046a0001c0001t0001g0052others(8): Show | 12 | 422 | 0.0284 | -1 | c.3+4 others(7): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SMKR1_chr7_129497531_129517918 | 129509672 | CT | C | intron_variant | MODIFIER | NA18940.hp2 NA18971.hp2 NA18977.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 7 | 422 | 0.0166 | -1 | c.4-2 others(7): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
SMKR1_chr7_129497531_129517918 | 129516704 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(62): Show | 175 | 422 | 0.4147 | -1 | c.*42 others(6): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3787 | chr7 | TogoVar |