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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMCHD1_chr18_2650726_2810017 | 2809293 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(257): Show |
a0001a0002a0004others(10): Show | a0001c0002a0001c0004a0001c0005others(23): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(64): Show | a0001c0002t0001g0176a0001c0002t0001g0178a0001c0002t0001g0179others(257): Show | 260 | 340 | 0.7647 | -1 | c.*67 others(6): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 4277 | chr18 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196502054 | GA | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(57): Show |
a0001a0003a0006 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(36): Show | 60 | 398 | 0.1508 | -1 | c.*58 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 4824 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196505847 | GA | G | downstream_gene_variant | MODIFIER | HG01168.hp2 HG02132.hp2 HG02602.hp2 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0002a0002c0002t0002a0004c0004t0012others(2): Show | a0001c0001t0002g0004a0002c0002t0002g0150a0002c0002t0002g0151others(10): Show | 14 | 398 | 0.0352 | -1 | c.*20 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1031 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196508936 | CA | C | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0003 | a0001c0001t0001g0089a0001c0001t0001g0103a0001c0007t0003g0030others(2): Show | 6 | 398 | 0.0151 | -1 | c.200 others(8): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196509216 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(70): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0081a0001c0001t0001g0094a0001c0001t0001g0103others(35): Show | 73 | 398 | 0.1834 | -1 | c.200 others(8): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196509780 | CT | C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02109.hp2 others(30): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0002c0002t0005others(3): Show | a0001c0001t0001g0086a0002c0002t0002g0011a0002c0002t0002g0023others(21): Show | 33 | 398 | 0.0829 | -1 | c.51- others(7): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196512509 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01070.hp1 others(18): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0106a0001c0001t0001g0118others(9): Show | 21 | 398 | 0.0528 | -1 | c.50+ others(8): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196513627 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(74): Show | 227 | 398 | 0.5704 | -1 | c.50+ others(8): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196515986 | AG | A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02148.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0003 | a0001c0001t0002g0067a0001c0001t0002g0138a0001c0007t0003g0062 | 3 | 398 | 0.0075 | -1 | c.-77 others(5): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 641 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196517104 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(60): Show | 175 | 398 | 0.4397 | -1 | c.-18 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 1759 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196517580 | AC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(147): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0025others(92): Show | 150 | 398 | 0.3769 | -1 | c.-23 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 2235 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196517622 | CT | C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02965.hp2 HG02970.hp2 others(2): Show |
a0001a0002a0006 | a0001c0008a0002c0002a0006c0006 | a0001c0008t0002a0002c0002t0002a0006c0006t0003 | a0001c0008t0002g0122a0002c0002t0002g0023a0002c0002t0002g0043others(1): Show | 5 | 398 | 0.0126 | -1 | c.-24 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 2277 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196518181 | GT | G | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03710.hp1 HG03831.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0004 | a0001c0001t0001g0025a0001c0001t0001g0054a0001c0001t0001g0087others(7): Show | 11 | 398 | 0.0276 | -1 | c.-29 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 2836 | chr3 | TogoVar | ||||||
SMCO1_chr3_196501879_196520346 | 196519935 | CG | C | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02258.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0039a0001c0001t0002g0004a0001c0001t0002g0028others(8): Show | 16 | 398 | 0.0402 | -1 | c.-47 others(6): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 4590 | chr3 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27447728 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(229): Show |
a0000a0001a0002others(6): Show | a0000c0006a0000c0010a0000c0017others(18): Show | a0000c0006t0005a0000c0006t0006a0000c0010t0006others(31): Show | a0000c0006t0005g0015a0000c0006t0005g0289a0000c0006t0005g0290others(214): Show | 232 | 360 | 0.6444 | -1 | c.-11 others(8): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27459186 | CA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0171a0001c0001t0001g0186a0001c0001t0001g0187others(65): Show | 74 | 360 | 0.2056 | -1 | c.-10 others(10): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27464716 | CA | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(37): Show |
a0000a0001a0002others(1): Show | a0000c0006a0001c0001a0001c0004others(4): Show | a0000c0006t0005a0001c0001t0001a0001c0001t0004others(7): Show | a0000c0006t0005g0294a0001c0001t0001g0165a0001c0001t0001g0241others(33): Show | 40 | 360 | 0.1111 | -1 | c.-10 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27465028 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01169.hp2 others(31): Show |
a0000a0001a0002others(3): Show | a0000c0006a0001c0001a0001c0004others(7): Show | a0000c0006t0005a0001c0001t0001a0001c0001t0002others(10): Show | a0000c0006t0005g0293a0001c0001t0001g0163a0001c0001t0001g0183others(30): Show | 34 | 360 | 0.0944 | -1 | c.-10 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27465056 | GA | G | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp2 HG03195.hp2 |
a0000a0002 | a0000c0017a0002c0005a0002c0021 | a0000c0017t0005a0002c0005t0001a0002c0021t0001 | a0000c0017t0005g0020a0002c0005t0001g0018a0002c0021t0001g0019 | 3 | 360 | 0.0083 | -1 | c.-10 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27465066 | GA | G | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp2 HG03195.hp2 |
a0000a0002 | a0000c0017a0002c0005a0002c0021 | a0000c0017t0005a0002c0005t0001a0002c0021t0001 | a0000c0017t0005g0020a0002c0005t0001g0018a0002c0021t0001g0019 | 3 | 360 | 0.0083 | -1 | c.-10 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27477210 | GT | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01069.hp1 others(29): Show |
a0001a0004a0006 | a0001c0001a0001c0008a0004c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(3): Show | a0001c0001t0001g0171a0001c0001t0001g0179a0001c0001t0001g0180others(28): Show | 32 | 360 | 0.0889 | -1 | c.512 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27480709 | CT | C | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03017.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0020 | a0001c0001t0001a0007c0020t0001 | a0001c0001t0001g0241a0001c0001t0001g0284a0001c0001t0001g0285others(4): Show | 7 | 360 | 0.0194 | -1 | c.512 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27484851 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(89): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0014others(84): Show | 92 | 360 | 0.2556 | -1 | c.513 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27484872 | AT | A | intron_variant | MODIFIER | HG00673.hp1 HG01258.hp1 NA18939.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0164a0001c0001t0002g0072a0001c0001t0002g0073others(7): Show | 10 | 360 | 0.0278 | -1 | c.513 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27485450 | GT | G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(69): Show |
a0000a0001a0002others(2): Show | a0000c0006a0001c0001a0001c0008others(6): Show | a0000c0006t0005a0001c0001t0001a0001c0001t0002others(10): Show | a0000c0006t0005g0015a0000c0006t0005g0166a0000c0006t0005g0167others(62): Show | 72 | 360 | 0.2000 | -1 | c.513 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27487753 | CT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(65): Show |
a0000a0001a0002others(1): Show | a0000c0006a0000c0022a0001c0001others(4): Show | a0000c0006t0005a0000c0022t0006a0001c0001t0001others(8): Show | a0000c0006t0005g0015a0000c0006t0005g0166a0000c0006t0005g0167others(59): Show | 68 | 360 | 0.1889 | -1 | c.513 others(8): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27493532 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(63): Show |
a0000a0001a0002others(1): Show | a0000c0006a0000c0010a0000c0022others(7): Show | a0000c0006t0006a0000c0010t0006a0000c0022t0006others(9): Show | a0000c0006t0006g0006a0000c0006t0006g0033a0000c0010t0006g0238others(57): Show | 66 | 360 | 0.1833 | -1 | c.601 others(8): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27497732 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0003others(2): Show | a0001c0001t0001g0181a0001c0001t0001g0231a0001c0001t0001g0271others(7): Show | 10 | 360 | 0.0278 | -1 | c.833 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27500148 | AT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00733.hp2 others(97): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0005a0003c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0001others(13): Show | a0001c0001t0001g0164a0001c0001t0002g0326a0001c0001t0002g0327others(87): Show | 100 | 360 | 0.2778 | -1 | c.834 others(9): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO2_chr12_27441736_27507185 | 27501415 | CA | C | intron_variant | MODIFIER | HG00544.hp2 HG01255.hp2 HG01433.hp1 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(4): Show | a0001c0001t0001g0179a0001c0001t0002g0007a0001c0001t0002g0036others(21): Show | 25 | 360 | 0.0694 | -1 | c.834 others(8): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SMCO3_chr12_14799650_14819182 | 14803323 | AG | A | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG01884.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0001 | a0001c0001t0002g0018a0001c0001t0002g0049a0003c0003t0001g0010others(3): Show | 13 | 390 | 0.0333 | -1 | c.*26 others(6): Show |
SMCO3 | ENSG00000179256.2 | transcript | ENST00000316048.2 | protein_coding | 1326 | chr12 | TogoVar | ||||||
SMCO3_chr12_14799650_14819182 | 14803983 | GA | G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0042a0001c0001t0002g0049 | 5 | 390 | 0.0128 | -1 | c.*20 others(6): Show |
SMCO3 | ENSG00000179256.2 | transcript | ENST00000316048.2 | protein_coding | 666 | chr12 | TogoVar | ||||||
SMCO3_chr12_14799650_14819182 | 14811772 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 3 | 390 | 0.0077 | -1 | c.-17 others(9): Show |
SMCO3 | ENSG00000179256.2 | transcript | ENST00000316048.2 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93478308 | TC | T | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02886.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0003g0317a0001c0001t0003g0323others(1): Show | 4 | 412 | 0.0097 | -1 | c.*70 others(5): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 163 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93480509 | AG | A | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160a0001c0001t0003g0317a0001c0001t0003g0323 | 3 | 412 | 0.0073 | -1 | c.-80 others(9): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93484688 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0013a0001c0001t0002g0023others(112): Show | 124 | 412 | 0.3010 | -1 | c.-80 others(9): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93500660 | AG | A | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0132a0001c0001t0011g0299a0001c0001t0011g0334others(1): Show | 4 | 412 | 0.0097 | -1 | c.-15 others(10): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93509297 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(224): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(199): Show | 227 | 412 | 0.5510 | -1 | c.-15 others(10): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93511767 | CA | C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0020 | a0001c0001t0001g0036a0001c0001t0008g0048a0001c0001t0008g0267others(4): Show | 7 | 412 | 0.0170 | -1 | c.-15 others(11): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93520865 | AG | A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0076a0001c0001t0001g0077others(42): Show | 52 | 412 | 0.1262 | -1 | c.-15 others(11): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93534190 | CA | C | intron_variant | MODIFIER | HG01256.hp2 HG02738.hp1 HG03490.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0062a0001c0001t0001g0149a0001c0001t0001g0301others(6): Show | 9 | 412 | 0.0218 | -1 | c.-15 others(10): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93545507 | GA | G | upstream_gene_variant | MODIFIER | HG02717.hp2 HG03130.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0004 | a0001c0001t0011g0345a0001c0002t0004g0346a0001c0002t0004g0347others(1): Show | 4 | 412 | 0.0097 | -1 | c.-23 others(6): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 2117 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93545588 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(153): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0012others(140): Show | 156 | 412 | 0.3786 | -1 | c.-24 others(6): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 2198 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93546787 | AT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01081.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0306a0001c0001t0001g0318others(9): Show | 13 | 412 | 0.0316 | -1 | c.-36 others(6): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 3397 | chr11 | TogoVar | ||||||
SMCP_chr1_152873322_152890047 | 152874454 | CA | C | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02055.hp2 HG02630.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0020others(3): Show | 9 | 418 | 0.0215 | -1 | c.-40 others(6): Show |
SMCP | ENSG00000163206.6 | transcript | ENST00000368765.4 | protein_coding | 3867 | chr1 | TogoVar | ||||||
SMCP_chr1_152873322_152890047 | 152875007 | TA | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(162): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0011others(30): Show | 165 | 418 | 0.3947 | -1 | c.-34 others(6): Show |
SMCP | ENSG00000163206.6 | transcript | ENST00000368765.4 | protein_coding | 3314 | chr1 | TogoVar | ||||||
SMCP_chr1_152873322_152890047 | 152885262 | TA | T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01256.hp2 HG01943.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0020others(2): Show | 20 | 418 | 0.0479 | -1 | c.*49 others(5): Show |
SMCP | ENSG00000163206.6 | transcript | ENST00000368765.4 | protein_coding | 216 | chr1 | TogoVar | ||||||
SMCP_chr1_152873322_152890047 | 152885668 | GT | G | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 7 | 418 | 0.0168 | -1 | c.*89 others(5): Show |
SMCP | ENSG00000163206.6 | transcript | ENST00000368765.4 | protein_coding | 622 | chr1 | TogoVar | ||||||
SMCP_chr1_152873322_152890047 | 152888505 | CT | C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01433.hp1 HG01891.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(11): Show | 32 | 418 | 0.0766 | -1 | c.*37 others(6): Show |
SMCP | ENSG00000163206.6 | transcript | ENST00000368765.4 | protein_coding | 3459 | chr1 | TogoVar | ||||||
SMCR8_chr17_18310293_18333056 | 18311031 | CA | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02132.hp2 HG02135.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0036 | a0002c0002t0005g0011a0002c0002t0036g0011 | 4 | 422 | 0.0095 | -1 | c.-47 others(6): Show |
SMCR8 | ENSG00000176994.11 | transcript | ENST00000406438.5 | protein_coding | 4261 | chr17 | TogoVar |