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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMLR1_chr6_130822406_130842135 | 130822753 | TA | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(59): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0063a0001c0001t0003g0002a0001c0001t0003g0009others(8): Show | 62 | 440 | 0.1409 | -1 | c.-46 others(6): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 4652 | chr6 | TogoVar | ||||||
SMLR1_chr6_130822406_130842135 | 130825636 | AG | A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(93): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0002g0001others(13): Show | 96 | 440 | 0.2182 | -1 | c.-17 others(6): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 1769 | chr6 | TogoVar | ||||||
SMLR1_chr6_130822406_130842135 | 130836693 | GA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002a0001c0001t0009g0062 | 7 | 440 | 0.0159 | -1 | c.*17 others(6): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 2/2 | 1741 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
SMLR1_chr6_130822406_130842135 | 130838915 | AG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00597.hp1 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0024others(9): Show | 55 | 440 | 0.1250 | -1 | c.*39 others(6): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 1781 | chr6 | TogoVar | ||||||
SMLR1_chr6_130822406_130842135 | 130840607 | GA | G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp2 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0002g0007a0001c0001t0002g0014a0001c0001t0003g0007others(15): Show | 79 | 440 | 0.1796 | -1 | c.*56 others(6): Show |
SMLR1 | ENSG00000256162.2 | transcript | ENST00000541421.2 | protein_coding | 3473 | chr6 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70920535 | CT | C | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0018others(2): Show | 5 | 36 | 0.1389 | -1 | c.-45 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 4551 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70921075 | GT | G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(13): Show | 17 | 36 | 0.4722 | -1 | c.-40 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 4011 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70921810 | CT | C | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02109.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0026a0001c0001t0002g0003a0001c0001t0002g0013others(5): Show | 8 | 36 | 0.2222 | -1 | c.-32 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 3276 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70923213 | TA | T | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0011a0001c0001t0002g0003a0001c0001t0002g0008others(10): Show | 14 | 36 | 0.3889 | -1 | c.-18 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1873 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70924129 | CA | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(12): Show | 16 | 36 | 0.4444 | -1 | c.-97 others(5): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 957 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70927608 | CA | C | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(23): Show | 27 | 36 | 0.7500 | -1 | c.81+ others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70927961 | TA | T | intron_variant | MODIFIER | HG02896.hp1 HG03195.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0002g0028a0001c0001t0003g0007 | 3 | 36 | 0.0833 | -1 | c.81+ others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70928300 | CA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001a0001c0002t0003g0005a0001c0002t0003g0006 | 4 | 36 | 0.1111 | -1 | c.81+ others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70929409 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(12): Show | 16 | 36 | 0.4444 | -1 | c.81+ others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70929880 | TA | T | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp1 HG02109.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(27): Show | 32 | 36 | 0.8889 | -1 | c.81+ others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70933340 | GC | G | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0002g0003others(9): Show | 13 | 36 | 0.3611 | -1 | c.82- others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70946513 | CT | C | intron_variant | MODIFIER | HG01169.hp1 HG02109.hp1 HG02145.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(15): Show | 19 | 36 | 0.5278 | -1 | c.834 others(8): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70950068 | CA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0016others(8): Show | 12 | 36 | 0.3333 | -1 | c.835 others(9): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN1_chr5_70920087_70958015 | 70954725 | CG | C | downstream_gene_variant | MODIFIER | HG02818.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0003g0007 | 2 | 36 | 0.0556 | -1 | c.*22 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1711 | chr5 | TogoVar | ||||||
SMN1_chr5_70920087_70958015 | 70957303 | GT | G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0016others(10): Show | 14 | 36 | 0.3889 | -1 | c.*48 others(6): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 4289 | chr5 | TogoVar | ||||||
SMN2_chr5_70044669_70082595 | 70052190 | CA | C | intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0084a0001c0001t0001g0087a0001c0002t0001g0086others(3): Show | 6 | 108 | 0.0556 | -1 | c.81+ others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70052542 | TA | T | intron_variant | MODIFIER | HG01074.hp2 HG03209.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0077a0001c0002t0001g0079others(2): Show | 7 | 108 | 0.0648 | -1 | c.81+ others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70053726 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00597.hp2 others(17): Show |
a0000a0001 | a0000c0005a0001c0001a0001c0003 | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(2): Show | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0002others(12): Show | 20 | 108 | 0.1852 | -1 | c.81+ others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70053985 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(82): Show |
a0000a0001a0002others(1): Show | a0000c0005a0001c0001a0001c0003others(5): Show | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(9): Show | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(67): Show | 85 | 108 | 0.7870 | -1 | c.81+ others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70054456 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(88): Show |
a0000a0001a0002others(1): Show | a0000c0005a0001c0001a0001c0003others(5): Show | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(10): Show | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(73): Show | 91 | 108 | 0.8426 | -1 | c.81+ others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70068367 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(78): Show |
a0000a0001a0002others(1): Show | a0000c0005a0001c0001a0001c0002others(5): Show | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(10): Show | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(63): Show | 81 | 108 | 0.7500 | -1 | c.628 others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70069072 | TG | T | intron_variant | MODIFIER | NA19009.hp2 NA19079.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023a0001c0002t0001g0067 | 2 | 108 | 0.0185 | -1 | c.628 others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
SMN2_chr5_70044669_70082595 | 70071088 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(76): Show |
a0000a0001a0002 | a0000c0005a0001c0001a0001c0002others(5): Show | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(7): Show | a0000c0005t0003g0009a0000c0005t0003g0080a0001c0001t0001g0001others(61): Show | 79 | 108 | 0.7315 | -1 | c.834 others(8): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMN2_chr5_70044669_70082595 | 70079431 | CA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(78): Show |
a0000a0001a0002 | a0000c0005a0001c0001a0001c0002others(3): Show | a0000c0005t0003a0001c0001t0001a0001c0001t0004others(7): Show | a0000c0005t0003g0009a0001c0001t0001g0001a0001c0001t0001g0002others(66): Show | 81 | 108 | 0.7500 | -1 | c.*24 others(6): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 1837 | chr5 | TogoVar | ||||||
SMN2_chr5_70044669_70082595 | 70079819 | CT | C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01192.hp2 others(5): Show |
a0000a0001 | a0000c0005a0001c0002a0001c0003others(1): Show | a0000c0005t0003a0001c0002t0001a0001c0003t0002others(2): Show | a0000c0005t0003g0080a0001c0002t0001g0086a0001c0003t0002g0021others(5): Show | 8 | 108 | 0.0741 | -1 | c.*28 others(6): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 2225 | chr5 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110287904 | TA | T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01261.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0004a0001c0001t0002g0035a0001c0001t0002g0090others(2): Show | 26 | 392 | 0.0663 | -1 | c.*62 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 2825 | chr10 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110291259 | AT | A | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG02976.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007a0001c0001t0006g0055 | 8 | 392 | 0.0204 | -1 | c.*28 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 6/6 | 2890 | chr10 | TogoVar | |||||
SMNDC1_chr10_110285730_110309920 | 110304956 | GA | G | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 5 | 392 | 0.0128 | -1 | c.-21 others(5): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 37 | chr10 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110305764 | CT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(74): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0023others(19): Show | 77 | 392 | 0.1964 | -1 | c.-10 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 845 | chr10 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110306167 | CA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01167.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0065a0001c0002t0005g0006a0001c0002t0005g0034 | 10 | 392 | 0.0255 | -1 | c.-14 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 1248 | chr10 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110307641 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(190): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0016others(51): Show | 193 | 392 | 0.4924 | -1 | c.-28 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 2722 | chr10 | TogoVar | ||||||
SMNDC1_chr10_110285730_110309920 | 110308865 | CT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0011 | a0001c0001t0002g0003a0001c0001t0002g0022a0001c0001t0002g0023others(4): Show | 37 | 392 | 0.0944 | -1 | c.-41 others(6): Show |
SMNDC1 | ENSG00000119953.14 | transcript | ENST00000369603.10 | protein_coding | 3946 | chr10 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69875977 | TA | T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01256.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0002g0003others(4): Show | 8 | 270 | 0.0296 | -1 | c.-37 others(6): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3438 | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69878488 | AC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG02074.hp1 HG02698.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0017others(15): Show | 18 | 270 | 0.0667 | -1 | c.-11 others(6): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 927 | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69880352 | AC | A | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0008a0003c0009t0001 | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0008g0002others(1): Show | 5 | 270 | 0.0185 | -1 | c.99+ others(7): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69885266 | CT | C | intron_variant | MODIFIER | HG01496.hp2 HG02886.hp2 NA18957.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0001 | a0001c0001t0001g0063a0001c0001t0001g0132a0001c0001t0003g0089others(2): Show | 5 | 270 | 0.0185 | -1 | c.99+ others(8): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69887267 | AG | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0111a0001c0001t0001g0112others(10): Show | 14 | 270 | 0.0519 | -1 | c.99+ others(8): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69895867 | CT | C | intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02074.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0073others(9): Show | 12 | 270 | 0.0444 | -1 | c.99+ others(9): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69897568 | TA | T | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01192.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0022others(27): Show | 30 | 270 | 0.1111 | -1 | c.99+ others(9): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69903900 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(142): Show | 147 | 270 | 0.5444 | -1 | c.99+ others(9): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69910598 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(197): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(193): Show | 200 | 270 | 0.7407 | -1 | c.99+ others(9): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69919910 | AC | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(80): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0022others(77): Show | 83 | 270 | 0.3074 | -1 | c.100 others(10): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SMOC1_chr14_69874416_70037366 | 69924434 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01168.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0126a0001c0001t0001g0127others(12): Show | 15 | 270 | 0.0556 | -1 | c.100 others(10): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69925064 | GT | G | intron_variant | MODIFIER | HG01517.hp2 HG02486.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0071others(2): Show | 5 | 270 | 0.0185 | -1 | c.100 others(10): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | chr14 | TogoVar | ||||||
SMOC1_chr14_69874416_70037366 | 69926047 | AT | A | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG02895.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0084others(7): Show | 11 | 270 | 0.0407 | -1 | c.100 others(10): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |