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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3RF1_chr4_169089259_169275956 | 169178281 | TAAATAAG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(85): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0065others(85): Show | 88 | 216 | 0.4074 | -52 | c.394 others(71): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943314 | TGTGTGTG others(45): Show |
T | intron_variant | MODIFIER | HG02293.hp1 HG02293.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0064 | a0001c0001t0010g0130a0001c0001t0010g0188a0001c0001t0064g0112 | 3 | 214 | 0.0140 | -52 | c.691 others(71): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISA9_chr16_12896598_13245416 | 13198202 | ATGTGTGT others(45): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01993.hp2 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0055a0001c0001t0071others(2): Show | a0001c0001t0004g0006a0001c0001t0055g0118a0001c0001t0071g0007others(2): Show | 5 | 214 | 0.0234 | -52 | c.692 others(69): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHROOM4_chrX_50581796_50819194 | 50618277 | CCCCTTCC others(45): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0009 | a0009c0009 | a0009c0009t0027 | a0009c0009t0027g0045 | 1 | 175 | 0.0057 | -52 | c.295 others(71): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402134 | GGCTCCAC others(45): Show |
G | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0226 | 1 | 242 | 0.0041 | -52 | c.*37 others(63): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3581 | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 402592 | CCCCGCTC others(45): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 242 | 0.0041 | -52 | c.*32 others(63): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3123 | chr11 | TogoVar | ||||||
SIGLEC12_chr19_51486227_51506800 | 51495246 | TGGACGGG others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01433.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0016 | a0001c0002t0005a0002c0001t0001a0003c0016t0005 | a0001c0002t0005g0032a0002c0001t0001g0041a0003c0016t0005g0049 | 4 | 432 | 0.0093 | -52 | c.159 others(71): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412587 | GAAAGAAA others(45): Show |
G | intron_variant | MODIFIER | HG02135.hp2 NA18747.hp2 NA18963.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0222a0002c0002t0001g0230a0002c0002t0007g0176 | 3 | 320 | 0.0094 | -52 | c.116 others(71): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412591 | GAAAGAAA others(45): Show |
G | intron_variant | MODIFIER | HG03239.hp1 NA19005.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232a0002c0002t0001g0257 | 2 | 320 | 0.0063 | -52 | c.116 others(71): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SIM1_chr6_100380009_100469921 | 100412595 | GAAAGAAA others(45): Show |
G | intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 320 | 0.0031 | -52 | c.116 others(71): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(45): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0057a0001c0001t0001g0137others(3): Show | 8 | 376 | 0.0213 | -52 | c.177 others(69): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1061351 | ACCCGCCG others(45): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG03098.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0014a0002c0012 | a0001c0003t0003a0001c0014t0003a0002c0012t0003others(1): Show | a0001c0003t0003g0002a0001c0003t0003g0004a0001c0003t0003g0006others(5): Show | 8 | 118 | 0.0678 | -52 | c.274 others(69): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1071991 | GCCCCAGT others(45): Show |
G | intron_variant | MODIFIER | HG00733.hp2 NA19011.hp1 |
a0001a0002 | a0001c0009a0002c0034 | a0001c0009t0002a0002c0034t0002 | a0001c0009t0002g0114a0002c0034t0002g0091 | 2 | 118 | 0.0170 | -52 | c.224 others(71): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072108 | GGGCATCA others(45): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0023 | a0001c0001t0001a0002c0023t0004 | a0001c0001t0001g0115a0002c0023t0004g0010 | 2 | 118 | 0.0170 | -52 | c.224 others(71): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072221 | CCCCCAGT others(45): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG03927.hp2 |
a0001 | a0001c0014a0001c0030 | a0001c0014t0003a0001c0030t0001 | a0001c0014t0003g0093a0001c0030t0001g0105 | 2 | 118 | 0.0170 | -52 | c.224 others(71): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072504 | CCCCCAGT others(45): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0093 | 1 | 118 | 0.0085 | -52 | c.224 others(71): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072700 | CAGCCCCC others(45): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0024 | a0002c0024t0002 | a0002c0024t0002g0060 | 1 | 118 | 0.0085 | -52 | c.224 others(69): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072794 | CAGCCCCC others(45): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0114 | 1 | 118 | 0.0085 | -52 | c.224 others(69): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC22A25_chr11_63153437_63248599 | 63197792 | ACAGAATG others(45): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0022a0002c0002t0046 | a0002c0002t0004g0156a0002c0002t0022g0061a0002c0002t0046g0304 | 3 | 344 | 0.0087 | -52 | c.831 others(71): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 7/11 | chr11 | TogoVar | ||||||
SLC25A21_chr14_36672921_37177606 | 37098734 | TAGATAGA others(45): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 164 | 0.0061 | -52 | c.70+ others(69): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar | ||||||
SLC25A22_chr11_785475_803281 | 801741 | GAGCAGGA others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0003t0006 | a0001c0001t0003g0004a0001c0001t0007g0012a0001c0003t0006g0010 | 12 | 410 | 0.0293 | -52 | c.-37 others(63): Show |
SLC25A22 | ENSG00000177542.11 | transcript | ENST00000628067.3 | protein_coding | 3461 | chr11 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6437437 | TTGTAGAT others(45): Show |
T | upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 350 | 0.0029 | -52 | c.-37 others(63): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 3675 | chr19 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84889677 | TTTCCTTC others(45): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0389a0001c0004t0001g0240 | 2 | 396 | 0.0051 | -52 | c.186 others(67): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SLC35C1_chr11_45800149_45818016 | 45815611 | GTATCAAT others(45): Show |
G | downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 428 | 0.0023 | -52 | c.*42 others(63): Show |
SLC35C1 | ENSG00000181830.9 | transcript | ENST00000314134.4 | protein_coding | 2596 | chr11 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22396391 | GAGAGAGA others(45): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0216 | 1 | 324 | 0.0031 | -52 | c.-15 others(69): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22396507 | GAGAGAGA others(45): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0160 | 1 | 324 | 0.0031 | -52 | c.-15 others(69): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
SLC43A2_chr17_1564268_1633834 | 1605551 | AGGCTGGG others(45): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG02071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0043others(1): Show | a0001c0001t0001g0348a0001c0001t0009g0355a0001c0001t0043g0119others(1): Show | 4 | 382 | 0.0105 | -52 | c.501 others(69): Show |
SLC43A2 | ENSG00000167703.15 | transcript | ENST00000301335.10 | protein_coding | 5/13 | chr17 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75330125 | ACACACAC others(45): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0136a0001c0003t0001g0073a0001c0004t0001g0145others(1): Show | 4 | 156 | 0.0256 | -52 | c.101 others(69): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | ||||||
SLC4A1_chr17_44243390_44273135 | 44262742 | GCTGAGGC others(45): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0058 | 1 | 406 | 0.0025 | -52 | c.15+ others(63): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 2/19 | chr17 | TogoVar | ||||||
SLC9A2_chr2_102614553_102716355 | 102632095 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 344 | 0.0029 | -52 | c.289 others(71): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC9A8_chr20_49807828_49897242 | 49884227 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0301 | 1 | 360 | 0.0028 | -52 | c.149 others(69): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | chr20 | TogoVar | ||||||
SLIT1_chr10_96993038_97190959 | 97119129 | AAAGTCAA others(45): Show |
A | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 256 | 0.0039 | -52 | c.413 others(71): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17739827 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029a0001c0001t0004g0032 | 2 | 254 | 0.0079 | -52 | c.239 others(69): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168255 | AGAAAGAA others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG03710.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0000a0001c0001t0014g0000 | 3 | 397 | 0.0076 | -52 | c.-31 others(63): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2938 | chr12 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39619190 | TTAATTTA others(45): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0248a0001c0001t0003g0037a0001c0001t0004g0338others(2): Show | 5 | 344 | 0.0145 | -52 | c.-35 others(71): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168518393 | TTGTGTAT others(45): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0005 | a0001c0001t0001g0168a0001c0002t0002g0052a0001c0002t0002g0054others(2): Show | 5 | 180 | 0.0278 | -52 | c.257 others(69): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560493 | GGCCCTGA others(45): Show |
G | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 180 | 0.0056 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560505 | TGAGGCTC others(45): Show |
T | intron_variant | MODIFIER | HG01069.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0172a0001c0001t0003g0109 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 180 | 0.0056 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560676 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0144 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560858 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0097a0001c0003t0001g0155 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168560936 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18943.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0139a0001c0001t0001g0158a0001c0001t0003g0171 | 3 | 180 | 0.0167 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561066 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02129.hp2 NA18963.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0002 | a0001c0001t0015g0163a0001c0002t0002g0028 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561092 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG03579.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0108a0001c0001t0001g0158a0001c0002t0002g0063 | 3 | 180 | 0.0167 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561222 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 180 | 0.0056 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561248 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02735.hp2 NA18990.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0003a0004c0009t0003 | a0001c0001t0001g0143a0001c0001t0001g0166a0001c0001t0003g0171others(1): Show | 4 | 180 | 0.0222 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561305 | TGGAGGAG others(45): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 180 | 0.0056 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561357 | CGGAGGAG others(45): Show |
C | intron_variant | MODIFIER | NA19000.hp1 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015a0001c0002t0002g0055 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561430 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp1 NA18963.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0002 | a0001c0001t0001g0121a0001c0001t0015g0163a0001c0002t0002g0039 | 3 | 180 | 0.0167 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SMOC2_chr6_168436184_168672992 | 168561456 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA18941.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0082a0001c0002t0002g0056 | 2 | 180 | 0.0111 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |