view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCAPER_chr15_76342904_76910340 | 76729267 | TATACACA others(19): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 312 | 0.0032 | -26 | c.202 others(43): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 16/31 | chr15 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27865577 | TTATATAT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00642.hp1 others(12): Show |
a0001a0004a0005 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0009a0001c0004t0011a0001c0004t0016others(7): Show | a0001c0002t0009g0063 a0001c0002t0009g0106 a0001c0004t0011g0175 others(12): Show |
15 | 314 | 0.0478 | -26 | c.*63 others(37): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4305 | chr8 | TogoVar | |||||||
SCARB1_chr12_124771856_124868864 | 124837568 | GAAAAGAA others(19): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0148 a0001c0002t0003g0076 a0001c0002t0003g0077 |
3 | 356 | 0.0084 | -26 | c.127 others(45): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
SCCPDH_chr1_246719409_246773137 | 246722502 | AATATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01981.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0055 others(4): Show |
10 | 410 | 0.0244 | -26 | c.-19 others(37): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 1906 | chr1 | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30703910 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG01261.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0245 a0002c0002t0001g0262 a0002c0002t0001g0280 others(3): Show |
6 | 328 | 0.0183 | -26 | c.149 others(45): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30703938 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00735.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(22): Show |
26 | 328 | 0.0793 | -26 | c.149 others(45): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD2_chr4_52867982_53371061 | 52875802 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 NA18747.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0006 | a0001c0001t0001g0011 a0001c0001t0002g0040 a0001c0004t0006g0152 |
3 | 162 | 0.0185 | -26 | c.196 others(45): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
SCG3_chr15_51676503_51726026 | 51704236 | CATACATA others(19): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 |
3 | 402 | 0.0075 | -26 | c.120 others(45): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCG3_chr15_51676503_51726026 | 51709679 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 402 | 0.0025 | -26 | c.120 others(45): Show |
SCG3 | ENSG00000104112.9 | transcript | ENST00000220478.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB1C1_chr11_188078_199575 | 191836 | ACCCTAAC others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01261.hp2 others(41): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0004 a0001c0005t0001g0010 |
44 | 354 | 0.1243 | -26 | c.-12 others(37): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1241 | chr11 | TogoVar | |||||||
SCGB1C2_chr17_132569_144067 | 141280 | AGGGGGGC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show |
109 | 402 | 0.2711 | -26 | c.*23 others(37): Show |
SCGB1C2 | ENSG00000268320.4 | transcript | ENST00000595228.4 | protein_coding | 2214 | chr17 | TogoVar | |||||||
SCGN_chr6_25647215_25706783 | 25658002 | CCTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02300.hp2 HG03130.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0258 a0001c0001t0004g0283 a0001c0001t0004g0284 others(8): Show |
11 | 368 | 0.0299 | -26 | c.154 others(43): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SCHIP1_chr3_159268244_159902359 | 159750257 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0044 a0001c0002t0001g0022 |
2 | 100 | 0.0200 | -26 | c.64- others(43): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SCML4_chr6_107697154_107829313 | 107778210 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | NA19079.hp1 NA19090.hp1 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0140 a0001c0010t0007g0141 |
2 | 250 | 0.0080 | -26 | c.-59 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107813399 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG01175.hp1 NA18988.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0007 | a0001c0001t0006g0046 a0001c0003t0007g0045 a0001c0003t0007g0047 |
3 | 250 | 0.0120 | -26 | c.-60 others(45): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38719367 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0024 | a0024c0046 | a0024c0046t0001 | a0024c0046t0001g0046 | 1 | 372 | 0.0027 | -26 | c.350 others(43): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 20/27 | chr3 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644788 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG01070.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0030 a0001c0001t0001g0132 a0001c0001t0003g0076 others(24): Show |
29 | 450 | 0.0644 | -26 | c.219 others(41): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123644794 | AGAGAGAA others(19): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 others(40): Show |
55 | 450 | 0.1222 | -26 | c.219 others(41): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555081 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0038 | a0001c0038t0016 | a0001c0038t0016g0118 | 1 | 340 | 0.0029 | -26 | c.454 others(43): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414263 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp1 HG01361.hp2 others(50): Show |
a0001a0003a0005others(4): Show | a0001c0001a0003c0003a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0001g0087 others(49): Show |
53 | 394 | 0.1345 | -26 | c.341 others(45): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191675 | ATATATAC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
a0001a0025 | a0001c0002a0001c0011a0001c0017others(1): Show | a0001c0002t0001a0001c0011t0018a0001c0017t0033others(2): Show | a0001c0002t0001g0184 a0001c0011t0018g0021 a0001c0017t0033g0291 others(2): Show |
5 | 296 | 0.0169 | -26 | c.*69 others(37): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3509 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166191696 | TATATGTA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0013 | a0013c0032 | a0013c0032t0013 | a0013c0032t0013g0082 a0013c0032t0013g0183 |
2 | 296 | 0.0068 | -26 | c.*69 others(37): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3488 | chr2 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23204288 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA18998.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show |
4 | 320 | 0.0125 | -26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204310 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0062 a0001c0002t0004g0292 |
2 | 320 | 0.0063 | -26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204312 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 320 | 0.0031 | -26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCRT2_chr20_656596_680802 | 674707 | GTGTGTGT others(19): Show |
G | intron_variant | MODIFIER | NA18962.hp2 NA18967.hp2 NA18992.hp1 others(6): Show |
a0001a0011 | a0001c0001a0011c0005 | a0001c0001t0003a0011c0005t0003 | a0001c0001t0003g0006 a0001c0001t0003g0103 a0001c0001t0003g0104 others(3): Show |
9 | 458 | 0.0197 | -26 | c.133 others(41): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444160 | TATACACA others(19): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0153 others(4): Show |
7 | 290 | 0.0241 | -26 | c.114 others(45): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444306 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 290 | 0.0035 | -26 | c.114 others(45): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444785 | ACGTACGA others(19): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0064 | 1 | 290 | 0.0035 | -26 | c.114 others(45): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628929 | CTTTCTTT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp2 others(42): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0006t0001g0011 |
45 | 411 | 0.1095 | -26 | c.-18 others(37): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1749 | chr11 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628963 | CTTTCTTT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 411 | 0.0024 | -26 | c.-18 others(37): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1783 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281480 | CCCTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG02004.hp2 HG02015.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0013a0002c0002others(6): Show | a0001c0004t0004a0001c0013t0004a0002c0002t0024others(6): Show | a0001c0004t0004g0181 a0001c0013t0004g0099 a0002c0002t0024g0182 others(7): Show |
10 | 280 | 0.0357 | -26 | c.484 others(43): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281488 | GGCCACCC others(19): Show |
G | intron_variant | MODIFIER | HG03669.hp2 NA18944.hp1 NA18950.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0007 | a0002c0002t0013a0002c0002t0056a0003c0007t0002 | a0002c0002t0013g0062 a0002c0002t0056g0159 a0003c0007t0002g0065 others(1): Show |
4 | 280 | 0.0143 | -26 | c.484 others(43): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43344508 | GCACACAC others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0034 | 1 | 280 | 0.0036 | -26 | c.-12 others(37): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1137 | chr22 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387209 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 454 | 0.0022 | -26 | c.*44 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 473 | chr2 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387211 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG03654.hp2 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 2 | 454 | 0.0044 | -26 | c.*44 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 471 | chr2 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387213 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02602.hp2 HG02735.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 18 | 454 | 0.0397 | -26 | c.*44 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 469 | chr2 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387215 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01109.hp2 HG01261.hp1 others(22): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0007t0001g0000 |
25 | 454 | 0.0551 | -26 | c.*44 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 467 | chr2 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387217 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG03491.hp1 NA18940.hp1 others(12): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0001a0002c0002t0001a0009c0010t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0009c0010t0001g0000 |
15 | 454 | 0.0330 | -26 | c.*44 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 465 | chr2 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227387219 | CTCTCTCT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp2 NA18969.hp1 NA19004.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 454 | 0.0066 | -26 | c.*43 others(35): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 463 | chr2 | TogoVar | |||||||
SDF4_chr1_1211931_1237001 | 1229060 | CGCCTTCT others(19): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01099.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0097 others(29): Show |
37 | 400 | 0.0925 | -26 | c.-17 others(43): Show |
SDF4 | ENSG00000078808.20 | transcript | ENST00000360001.12 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3403824 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02622.hp2 others(7): Show |
a0001a0002a0004 | a0001c0002a0001c0008a0001c0014others(6): Show | a0001c0002t0040a0001c0008t0007a0001c0014t0018others(6): Show | a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0014t0018g0060 others(7): Show |
10 | 116 | 0.0862 | -26 | c.298 others(47): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3655448 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0031 | a0031c0085 | a0031c0085t0045 | a0031c0085t0045g0011 | 1 | 116 | 0.0086 | -26 | c.713 others(45): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4012549 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0011 | a0011c0022 | a0011c0022t0072 | a0011c0022t0072g0007 | 1 | 116 | 0.0086 | -26 | c.242 others(43): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73483557 | GTATATGT others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp2 NA20905.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0020 | a0001c0001t0001g0192 a0001c0010t0020g0202 |
2 | 204 | 0.0098 | -26 | c.225 others(45): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483603 | GTGTATAT others(19): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02559.hp1 others(1): Show |
a0001a0005a0008 | a0001c0026a0001c0068a0005c0065others(1): Show | a0001c0026t0022a0001c0068t0007a0005c0065t0013others(1): Show | a0001c0026t0022g0115 a0001c0068t0007g0117 a0005c0065t0013g0066 others(1): Show |
4 | 204 | 0.0196 | -26 | c.225 others(45): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73483685 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0006 | a0006c0085 | a0006c0085t0095 | a0006c0085t0095g0042 | 1 | 204 | 0.0049 | -26 | c.225 others(45): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73499859 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG02717.hp1 NA21309.hp2 |
a0001a0030 | a0001c0005a0030c0117 | a0001c0005t0050a0030c0117t0094 | a0001c0005t0050g0032 a0030c0117t0094g0179 |
2 | 204 | 0.0098 | -26 | c.224 others(43): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 2/44 | chr17 | TogoVar | |||||||
SDR16C5_chr8_56295005_56325175 | 56310096 | AGAGGAGG others(19): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 398 | 0.0025 | -26 | c.466 others(43): Show |
SDR16C5 | ENSG00000170786.13 | transcript | ENST00000303749.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG03041.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0105 others(2): Show |
5 | 320 | 0.0156 | -26 | c.52- others(41): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar |