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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPESP1_chr15_68925525_68951811 | 68943247 | T | TAAAACCC others(42): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 402 | 0.0025 | 49 | c.65- others(64): Show |
SPESP1 | ENSG00000258484.4 | transcript | ENST00000310673.4 | protein_coding | 1/1 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89541008 | C | CTAGAAGA others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0240 a0001c0001t0001g0327 |
3 | 358 | 0.0084 | 49 | c.132 others(68): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89541145 | C | CTACGCAG others(42): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 358 | 0.0028 | 49 | c.132 others(68): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113480931 | A | AGAAAGAA others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007 | a0001c0002t0003g0275 a0001c0002t0003g0301 a0001c0002t0003g0309 others(2): Show |
5 | 364 | 0.0137 | 49 | c.611 others(66): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPINK13_chr5_148263794_148291255 | 148264087 | A | ACTGGTCC others(42): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 376 | 0.0027 | 49 | c.-48 others(60): Show |
SPINK13 | ENSG00000214510.10 | transcript | ENST00000398450.5 | protein_coding | 4706 | chr5 | TogoVar | |||||||
SPINK2_chr4_56804861_56826701 | 56821746 | A | AGGGCGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02572.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 a0002c0002t0002g0198 a0002c0002t0002g0212 |
3 | 428 | 0.0070 | 49 | c.-85 others(56): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 46 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205307 | T | TATTATAG others(42): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 144 | 0.0069 | 49 | c.189 others(68): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205520 | A | ATATATTA others(42): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 144 | 0.0069 | 49 | c.189 others(68): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1175015 | G | GCCCTCCA others(42): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0075 | 1 | 432 | 0.0023 | 49 | c.-24 others(60): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 2433 | chr4 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65339119 | T | TCCCGGCC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(139): Show |
142 | 276 | 0.5145 | 49 | c.205 others(66): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65339130 | C | CGCCCCGT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 others(41): Show |
44 | 276 | 0.1594 | 49 | c.205 others(66): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38556676 | G | GGGGGGTC others(42): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 261 | 0.0038 | 49 | c.220 others(68): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 11/18 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062566 | T | TTATATAA others(42): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0001 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0056 others(11): Show |
16 | 365 | 0.0438 | 49 | c.562 others(64): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062578 | C | CATTATAT others(42): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 365 | 0.0027 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062606 | T | TAATATAC others(42): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 365 | 0.0027 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062740 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 365 | 0.0027 | 49 | c.562 others(66): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0073 | a0005c0073t0001 | a0005c0073t0001g0355 | 1 | 412 | 0.0024 | 49 | c.138 others(66): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02155.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0285 |
2 | 412 | 0.0049 | 49 | c.138 others(66): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSX2B_chrX_52746252_52766536 | 52748038 | T | TTTTATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 55 | 0.0182 | 49 | c.-33 others(60): Show |
SSX2B | ENSG00000268447.6 | transcript | ENST00000596480.6 | protein_coding | 3213 | chrX | TogoVar | |||||||
ST7_chr7_116948501_117235176 | 117027463 | A | AAAAGTAA others(42): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0092 |
2 | 188 | 0.0106 | 49 | c.152 others(68): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643940 | C | CTGTCTGG others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0033 | a0033c0055 | a0033c0055t0002 | a0033c0055t0002g0238 | 1 | 256 | 0.0039 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | chr12 | TogoVar | |||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCCGGG others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0032 | a0032c0095 | a0032c0095t0001 | a0032c0095t0001g0050 | 1 | 256 | 0.0039 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCCGGG others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02055.hp2 HG02109.hp2 others(18): Show |
a0001a0004a0006others(8): Show | a0001c0004a0001c0039a0001c0096others(13): Show | a0001c0004t0001a0001c0004t0004a0001c0039t0001others(14): Show | a0001c0004t0001g0098 a0001c0004t0004g0012 a0001c0039t0001g0038 others(17): Show |
21 | 256 | 0.0820 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0019 | a0019c0144 | a0019c0144t0001 | a0019c0144t0001g0216 | 1 | 256 | 0.0039 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(166): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0002a0001c0003others(100): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(105): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0095 others(164): Show |
169 | 256 | 0.6602 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAB2_chr12_103582273_103771719 | 103643941 | C | CGTCTGGG others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 NA20129.hp1 |
a0001 | a0001c0012a0001c0042 | a0001c0012t0001a0001c0042t0003 | a0001c0012t0001g0240 a0001c0042t0003g0010 |
2 | 256 | 0.0078 | 49 | c.104 others(68): Show |
STAB2 | ENSG00000136011.15 | transcript | ENST00000388887.7 | protein_coding | 9/68 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73846666 | G | GTATAAGT others(42): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0039 | 1 | 368 | 0.0027 | 49 | c.376 others(64): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 384 | 0.0026 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 384 | 0.0026 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP1B_chr7_22414444_22505188 | 22456972 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0250 | 1 | 384 | 0.0026 | 49 | c.762 others(68): Show |
STEAP1B | ENSG00000105889.16 | transcript | ENST00000678116.1 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
STEAP4_chr7_88265892_88311894 | 88266123 | C | CTCCCTCC others(42): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0038 | 1 | 318 | 0.0031 | 49 | c.*13 others(62): Show |
STEAP4 | ENSG00000127954.13 | transcript | ENST00000380079.9 | protein_coding | 4768 | chr7 | TogoVar | |||||||
STK10_chr5_172037079_172193224 | 172076207 | T | TGTTGTGG others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0028 | a0006c0028t0026 | a0006c0028t0026g0222 | 1 | 232 | 0.0043 | 49 | c.198 others(68): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 12/18 | chr5 | TogoVar | |||||||
STK10_chr5_172037079_172193224 | 172076390 | C | CGTCCTGT others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0009 a0001c0001t0015g0048 |
2 | 232 | 0.0086 | 49 | c.198 others(68): Show |
STK10 | ENSG00000072786.13 | transcript | ENST00000176763.10 | protein_coding | 12/18 | chr5 | TogoVar | |||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0160 | 1 | 404 | 0.0025 | 49 | c.483 others(66): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18999.hp1 NA19070.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 a0003c0003t0001g0094 a0003c0003t0001g0106 others(1): Show |
4 | 404 | 0.0099 | 49 | c.483 others(66): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23730878 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0084 | 1 | 404 | 0.0025 | 49 | c.483 others(66): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK31_chr7_23705219_23837513 | 23750067 | T | TCCCCCCC others(42): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0152 | 1 | 404 | 0.0025 | 49 | c.101 others(68): Show |
STK31 | ENSG00000196335.13 | transcript | ENST00000355870.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27240998 | C | CTATGTAT others(42): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 374 | 0.0027 | 49 | c.-33 others(60): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3287 | chr12 | TogoVar | |||||||
STK39_chr2_167949022_168252595 | 167950975 | T | TTCTAGTG others(42): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087 | 1 | 270 | 0.0037 | 49 | c.*45 others(60): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 3046 | chr2 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988193 | A | AATATATT others(42): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18747.hp1 NA18975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0059 a0001c0001t0001g0069 others(2): Show |
6 | 396 | 0.0152 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988194 | T | TTATATTT others(42): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001 | a0001c0001t0004g0046 a0001c0001t0004g0047 a0002c0002t0001g0048 |
3 | 396 | 0.0076 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988320 | T | TGATATTT others(42): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0244 | 1 | 396 | 0.0025 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988320 | T | TGATATTT others(42): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 |
2 | 396 | 0.0051 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988320 | T | TTATATTT others(42): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 396 | 0.0025 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988444 | T | TTATATTT others(42): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 396 | 0.0025 | 49 | c.52+ others(64): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48555327 | C | CCCCCCAC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(219): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(219): Show |
222 | 376 | 0.5904 | 49 | c.-48 others(68): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48555327 | C | CCCCCCAC others(42): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0179 a0001c0003t0002g0185 |
2 | 376 | 0.0053 | 49 | c.-48 others(68): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771655 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01192.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(6): Show |
9 | 334 | 0.0270 | 49 | c.439 others(66): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771719 | T | TATATAAA others(42): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0161 a0001c0001t0001g0164 others(12): Show |
18 | 334 | 0.0539 | 49 | c.439 others(64): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771727 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 334 | 0.0030 | 49 | c.439 others(64): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |