| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SEMA3G_chr3_52428035_52450103 | 52444654 | GGGCACAC others(46): Show |
G | intron_variant | MODIFIER | HG02523.hp1 HG04204.hp1 NA19058.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0014 | a0001c0003t0004g0028a0001c0003t0004g0030a0001c0003t0014g0029 | 3 | 310 | 0.0097 | -53 | c.115 others(68): Show |
SEMA3G | ENSG00000010319.7 | transcript | ENST00000231721.7 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| SERTAD2_chr2_64626621_64658913 | 64644667 | ATAAAACA others(46): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 424 | 0.0024 | -53 | c.-4- others(68): Show |
SERTAD2 | ENSG00000179833.4 | transcript | ENST00000313349.3 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| SGSH_chr17_80204276_80225333 | 80217586 | AGTGGGTA others(46): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02258.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0112a0005c0005t0001g0011a0005c0005t0001g0111 | 6 | 420 | 0.0143 | -53 | c.89- others(66): Show |
SGSH | ENSG00000181523.13 | transcript | ENST00000326317.11 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| SH2D5_chr1_20714731_20737703 | 20733477 | AACTCTGT others(46): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0015a0001c0001t0005g0056 | 2 | 410 | 0.0049 | -53 | c.-13 others(64): Show |
SH2D5 | ENSG00000189410.12 | transcript | ENST00000444387.7 | protein_coding | 775 | chr1 | TogoVar | ||||||
| SH3RF2_chr5_145931578_146068292 | 146064721 | AGAAAGAA others(46): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 272 | 0.0037 | -53 | c.*20 others(64): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1430 | chr5 | TogoVar | ||||||
| SH3TC1_chr4_8194290_8246103 | 8234008 | TTTATCCA others(46): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0036 | a0036c0075 | a0036c0075t0001 | a0036c0075t0001g0109 | 1 | 374 | 0.0027 | -53 | c.328 others(70): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM2_chrX_9781429_9954443 | 9792093 | ATAGAATA others(46): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0039 | a0039c0065 | a0039c0065t0004 | a0039c0065t0004g0122 | 1 | 256 | 0.0039 | -53 | c.165 others(70): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | ||||||
| SHROOM4_chrX_50581796_50819194 | 50795101 | GATATATA others(46): Show |
G | intron_variant | MODIFIER | HG03654.hp1 NA18967.hp1 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0034 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0018g0074others(1): Show | 4 | 175 | 0.0229 | -53 | c.117 others(72): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 402106 | CCCCCGAC others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 242 | 0.0041 | -53 | c.*37 others(64): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3609 | chr11 | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 402577 | CCCCGCTC others(46): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03225.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0171a0001c0001t0001g0217a0001c0001t0001g0237others(2): Show | 5 | 242 | 0.0207 | -53 | c.*32 others(64): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3138 | chr11 | TogoVar | ||||||
| SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(46): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0136a0001c0001t0001g0188a0001c0001t0009g0140others(1): Show | 4 | 376 | 0.0106 | -53 | c.177 others(70): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1045683 | GCGAGTTA others(46): Show |
G | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 118 | 0.0085 | -53 | c.*66 others(64): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 4700 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1069992 | CAGCCCCC others(46): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG02976.hp1 HG04184.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0009t0002others(2): Show | a0001c0001t0001g0112a0001c0001t0001g0115a0001c0003t0003g0002others(4): Show | 7 | 118 | 0.0593 | -53 | c.224 others(72): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072126 | GCCCCCAG others(46): Show |
G | intron_variant | MODIFIER | NA19091.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0023a0002c0004t0001 | a0001c0001t0023g0033a0002c0004t0001g0041 | 2 | 118 | 0.0170 | -53 | c.224 others(72): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072176 | CAGCCCCC others(46): Show |
C | intron_variant | MODIFIER | HG03710.hp2 NA19065.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052a0001c0001t0001g0056a0001c0001t0001g0117 | 3 | 118 | 0.0254 | -53 | c.224 others(72): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1073025 | CAGCCCCC others(46): Show |
C | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 118 | 0.0085 | -53 | c.224 others(70): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1073120 | CAGCCCCC others(46): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01255.hp1 HG01255.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0023others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0039a0001c0001t0001g0051others(11): Show | 14 | 118 | 0.1186 | -53 | c.224 others(70): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| SLC17A6_chr11_22333381_22384503 | 22339130 | TTATATAT others(46): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02965.hp2 HG03139.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0046a0001c0001t0001g0047others(5): Show | 8 | 450 | 0.0178 | -53 | c.86+ others(66): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SLC17A9_chr20_62947709_62974585 | 62954025 | CGCCTTCA others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(52): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0054others(29): Show | 55 | 432 | 0.1273 | -53 | c.59+ others(68): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC25A41_chr19_6421037_6438763 | 6429045 | TATATTAT others(46): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 | 1 | 350 | 0.0029 | -53 | c.624 others(68): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SLC26A11_chr17_80215427_80258500 | 80217586 | AGTGGGTA others(46): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020a0001c0001t0003g0144a0001c0001t0003g0172others(2): Show | 6 | 366 | 0.0164 | -53 | c.-31 others(64): Show |
SLC26A11 | ENSG00000181045.15 | transcript | ENST00000361193.8 | protein_coding | 2840 | chr17 | TogoVar | ||||||
| SLC2A14_chr12_7807514_7877915 | 7874869 | CATATATA others(46): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG02135.hp2 HG02572.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0003a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0002t0003g0196a0001c0003t0001g0186a0001c0004t0001g0185others(8): Show | 11 | 350 | 0.0314 | -53 | c.-21 others(64): Show |
SLC2A14 | ENSG00000173262.12 | transcript | ENST00000431042.7 | protein_coding | 1955 | chr12 | TogoVar | ||||||
| SLC30A9_chr4_41985530_42095461 | 42073012 | CCACTGGC others(46): Show |
C | intron_variant | MODIFIER | HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0024a0001c0004t0025 | a0001c0004t0024g0149a0001c0004t0025g0150 | 2 | 164 | 0.0122 | -53 | c.141 others(72): Show |
SLC30A9 | ENSG00000014824.14 | transcript | ENST00000264451.12 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC35F4_chr14_57558920_57871092 | 57720961 | GTGAGTTA others(46): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0055a0001c0002t0001g0129 | 2 | 218 | 0.0092 | -53 | c.104 others(74): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140362658 | CGTCCGGG others(46): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0242 | 1 | 346 | 0.0029 | -53 | c.375 others(70): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 5/14 | chr7 | TogoVar | ||||||
| SLC39A14_chr8_22362278_22427736 | 22396486 | AGAGAGAG others(46): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0161 | 1 | 324 | 0.0031 | -53 | c.-15 others(70): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SLC9A3_chr5_465456_529449 | 487464 | CACCACAC others(46): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 1 | 218 | 0.0046 | -53 | c.675 others(68): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| SMAD2_chr18_47803957_47935659 | 47850796 | ATATATAT others(46): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0243 | a0001c0001t0026g0110a0001c0001t0026g0111a0001c0001t0243g0011 | 3 | 310 | 0.0097 | -53 | c.784 others(68): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
| SNIP1_chr1_37529449_37559293 | 37550978 | CCAGCTAC others(46): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224 | 1 | 394 | 0.0025 | -53 | c.327 others(70): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| SNRPD3_chr22_24550999_24579971 | 24561040 | TTTTTTTC others(46): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0233 | 1 | 400 | 0.0025 | -53 | c.126 others(70): Show |
SNRPD3 | ENSG00000100028.12 | transcript | ENST00000215829.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106451 | CGGGTGCA others(46): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(41): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0002c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(13): Show | a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0025others(41): Show | 44 | 190 | 0.2316 | -53 | c.325 others(70): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1221624 | CGTGTCGG others(46): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02602.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0109a0001c0002t0002g0076a0002c0003t0001g0092 | 3 | 190 | 0.0158 | -53 | c.719 others(72): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
| SON_chr21_33538038_33582481 | 33577649 | ACACACAC others(46): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0211 | 1 | 364 | 0.0028 | -53 | c.*12 others(64): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 169 | chr21 | TogoVar | ||||||
| SORCS2_chr4_7187538_7747827 | 7566219 | CAGAGATG others(46): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp2 HG03017.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0005a0001c0005t0004a0001c0009t0051others(1): Show | a0001c0001t0005g0130a0001c0005t0004g0101a0001c0009t0051g0042others(1): Show | 4 | 168 | 0.0238 | -53 | c.648 others(72): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPATC1L_chr21_46156160_46189459 | 46184458 | ACAACCCA others(46): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG01517.hp1 others(7): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0006 | a0001c0001t0011a0004c0005t0018a0004c0005t0023others(1): Show | a0001c0001t0011g0184a0001c0001t0011g0185a0001c0001t0011g0186others(7): Show | 10 | 251 | 0.0398 | -53 | c.-11 others(64): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 1/5 | 1643 | chr21 | TogoVar | |||||
| SPIC_chr12_101470336_101491997 | 101479254 | GAAGGAAG others(46): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 398 | 0.0025 | -53 | c.98- others(66): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SPTBN4_chr19_40462001_40581464 | 40537726 | CCTCCCTG others(46): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0002 | 1 | 234 | 0.0043 | -53 | c.435 others(72): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SRBD1_chr2_45383680_45616267 | 45414871 | CAATATAG others(46): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02258.hp1 HG02976.hp1 others(3): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0006a0002c0002t0001g0009a0002c0002t0001g0010others(3): Show | 6 | 358 | 0.0168 | -53 | c.233 others(72): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | ||||||
| SSBP3_chr1_54220432_54411394 | 54240074 | GTGTGTGT others(46): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0062a0001c0001t0005g0070 | 2 | 280 | 0.0071 | -53 | c.856 others(68): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | ||||||
| SSH2_chr17_29620938_29935228 | 29833775 | CTCCCTCC others(46): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 232 | 0.0043 | -53 | c.144 others(72): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 2/15 | chr17 | TogoVar | ||||||
| ST6GAL1_chr3_186925526_187083553 | 186984764 | CTCCTTCC others(46): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA19057.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0163a0001c0001t0005g0164a0001c0001t0006g0225 | 3 | 362 | 0.0083 | -53 | c.-18 others(74): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| STIM1_chr11_3850664_4098208 | 3895683 | CTTCTTTC others(46): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0097 | 1 | 300 | 0.0033 | -53 | c.139 others(72): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| STK32C_chr10_132202492_132312950 | 132299209 | GTCCACCA others(46): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0025 | a0001c0001t0001a0001c0006t0002a0001c0025t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0006t0002g0036others(1): Show | 4 | 368 | 0.0109 | -53 | c.262 others(70): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
| STK38_chr6_36488892_36552479 | 36492780 | AGGAAACA others(46): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 398 | 0.0025 | -53 | c.*29 others(64): Show |
STK38 | ENSG00000112079.9 | transcript | ENST00000229812.8 | protein_coding | 1111 | chr6 | TogoVar | ||||||
| STON1_chr2_48525154_48603513 | 48564505 | TTCTTCTT others(46): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0324a0003c0004t0004g0326 | 2 | 376 | 0.0053 | -53 | c.-47 others(72): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| STX2_chr12_130784600_130844250 | 130843379 | ATATATAT others(46): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(320): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(36): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(294): Show | 323 | 380 | 0.8500 | -53 | c.-43 others(64): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4130 | chr12 | TogoVar | ||||||
| STXBP3_chr1_108741674_108814523 | 108771452 | CATATATA others(46): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 334 | 0.0030 | -53 | c.439 others(70): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STXBP3_chr1_108741674_108814523 | 108772334 | CATATATA others(46): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 334 | 0.0030 | -53 | c.439 others(68): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SUN1_chr7_827476_879934 | 834070 | TTGTAGGC others(46): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG02056.hp1 others(32): Show |
a0001a0010a0017 | a0001c0004a0010c0014a0017c0015 | a0001c0004t0002a0001c0004t0008a0001c0004t0022others(3): Show | a0001c0004t0002g0008a0001c0004t0002g0026a0001c0004t0002g0241others(29): Show | 35 | 418 | 0.0837 | -53 | c.77+ others(68): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SYTL3_chr6_158645054_158769871 | 158705219 | GACAGGGT others(46): Show |
G | intron_variant | MODIFIER | HG00423.hp2 NA18939.hp1 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0002c0002t0001g0135a0002c0002t0001g0277 | 3 | 292 | 0.0103 | -53 | c.395 others(70): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | chr6 | TogoVar |