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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC22A31_chr16_89190761_89205537 | 89192563 | C | CCCCCTCA others(98): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 428 | 0.0023 | 105 | c.*34 others(116): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 3197 | chr16 | TogoVar | |||||||
SLC25A11_chr17_4932130_4945046 | 4944992 | C | CAATTGAA others(98): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 105 | c.-50 others(116): Show |
SLC25A11 | ENSG00000108528.14 | transcript | ENST00000225665.12 | protein_coding | 4947 | chr17 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84928589 | T | TCTCTCTC others(98): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0054 | a0002c0054t0002 | a0002c0054t0002g0197 | 1 | 396 | 0.0025 | 105 | c.108 others(124): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC2A4RG_chr20_63734776_63749050 | 63747498 | T | TCGGGGGG others(98): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0001 a0001c0001t0008g0006 |
2 | 416 | 0.0048 | 105 | c.*45 others(116): Show |
SLC2A4RG | ENSG00000125520.14 | transcript | ENST00000266077.5 | protein_coding | 3449 | chr20 | TogoVar | |||||||
SLC43A3_chr11_57401954_57432121 | 57403523 | G | GGAGGAAG others(98): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0005 | a0005c0011 | a0005c0011t0014 | a0005c0011t0014g0162 | 1 | 330 | 0.0030 | 105 | c.*42 others(116): Show |
SLC43A3 | ENSG00000134802.18 | transcript | ENST00000395124.6 | protein_coding | 3430 | chr11 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33218661 | A | ATTTCTTT others(98): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0159 | 1 | 410 | 0.0024 | 105 | c.152 others(122): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33218666 | T | TTTCTTTT others(98): Show |
intron_variant | MODIFIER | HG00673.hp2 HG03490.hp2 HG03492.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017 a0001c0001t0001g0172 a0001c0001t0001g0347 others(3): Show |
7 | 410 | 0.0171 | 105 | c.152 others(122): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCCCG others(98): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20129.hp1 |
a0002a0005 | a0002c0005a0005c0012 | a0002c0005t0002a0005c0012t0013 | a0002c0005t0002g0153 a0005c0012t0013g0132 |
2 | 218 | 0.0092 | 105 | c.212 others(122): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A8_chr20_49807828_49897242 | 49834375 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02129.hp1 HG02148.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0039 | a0001c0002t0006g0005 a0001c0002t0006g0179 a0001c0002t0006g0180 others(8): Show |
11 | 360 | 0.0306 | 105 | c.290 others(122): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69772563 | A | AGAAAGGA others(98): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0001 | 1 | 280 | 0.0036 | 105 | c.908 others(124): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SMIM2_chr13_44138150_44166257 | 44142132 | C | CCTCGGCT others(98): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01496.hp1 HG02027.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 380 | 0.0184 | 105 | c.*17 others(116): Show |
SMIM2 | ENSG00000139656.8 | transcript | ENST00000400419.2 | protein_coding | 1017 | chr13 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168593621 | C | CGAGCTCC others(98): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 180 | 0.0056 | 105 | c.638 others(122): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168668970 | C | CGTCCCCC others(98): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 180 | 0.0056 | 105 | c.*25 others(116): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 979 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168668970 | C | CGTCCCCC others(98): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0049 | 1 | 180 | 0.0056 | 105 | c.*25 others(116): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 979 | chr6 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCAC others(98): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 105 | c.-32 others(116): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77060996 | T | TAAGAGTG others(98): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0163 | 1 | 416 | 0.0024 | 105 | c.-42 others(120): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77061016 | A | ACAAGAGT others(98): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0093 | 1 | 416 | 0.0024 | 105 | c.-42 others(120): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77061037 | A | ACAAGAGT others(98): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 2 | 416 | 0.0048 | 105 | c.-42 others(122): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE5_chr7_75487320_75509316 | 75493495 | T | TCTCTTGT others(98): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02895.hp1 HG02896.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0016 a0002c0002t0007g0039 a0002c0002t0007g0121 others(2): Show |
9 | 408 | 0.0221 | 105 | c.-42 others(120): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35713869 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 268 | 0.0037 | 105 | c.291 others(122): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35713908 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02559.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0035 a0001c0003t0001g0078 a0001c0003t0001g0079 others(2): Show |
5 | 268 | 0.0187 | 105 | c.291 others(124): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17808414 | A | ATTTTATT others(98): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0291 | 1 | 352 | 0.0028 | 105 | c.*42 others(116): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2919 | chr17 | TogoVar | |||||||
SRP68_chr17_76033785_76077517 | 76062615 | A | ATATACAT others(98): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 365 | 0.0027 | 105 | c.562 others(122): Show |
SRP68 | ENSG00000167881.15 | transcript | ENST00000307877.7 | protein_coding | 4/15 | chr17 | TogoVar | |||||||
SRPK1_chr6_35827966_35926098 | 35867968 | T | TTAATTAA others(98): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 342 | 0.0029 | 105 | c.151 others(124): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 12/15 | chr6 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62160350 | A | AGAGAGGT others(98): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0012a0002c0003t0005 | a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 others(9): Show |
14 | 316 | 0.0443 | 105 | c.231 others(120): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62160350 | A | AGAGAGGT others(98): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0032 | 1 | 316 | 0.0032 | 105 | c.231 others(120): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
STARD7_chr2_96179859_96213827 | 96197066 | C | CAAAATAA others(98): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 358 | 0.0028 | 105 | c.291 others(122): Show |
STARD7 | ENSG00000084090.14 | transcript | ENST00000337288.10 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
STARD9_chr15_42570606_42725998 | 42712111 | A | ATAATATA others(98): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0022 | a0022c0031 | a0022c0031t0002 | a0022c0031t0002g0199 | 1 | 210 | 0.0048 | 105 | c.132 others(126): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 26/32 | chr15 | TogoVar | |||||||
STK32C_chr10_132202492_132312950 | 132254445 | A | ATCAGCAC others(98): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0232 |
2 | 368 | 0.0054 | 105 | c.263 others(122): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988362 | T | TTATATAA others(98): Show |
intron_variant | MODIFIER | HG01123.hp2 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186 a0001c0001t0002g0185 |
2 | 396 | 0.0051 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988362 | T | TTATATAA others(98): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 396 | 0.0025 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988367 | T | TAATATAT others(98): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 396 | 0.0025 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988375 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18747.hp2 NA18959.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0205 others(4): Show |
9 | 396 | 0.0227 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988445 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 NA18972.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 others(3): Show |
6 | 396 | 0.0152 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988445 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00642.hp2 others(94): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(66): Show |
97 | 396 | 0.2450 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988445 | T | TATATTTT others(98): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 396 | 0.0025 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STOML3_chr13_38960925_38995831 | 38988623 | A | AATATATT others(98): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0057 |
2 | 396 | 0.0051 | 105 | c.52+ others(120): Show |
STOML3 | ENSG00000133115.12 | transcript | ENST00000379631.9 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
STX7_chr6_132440867_132518116 | 132509448 | T | TTAAACTA others(98): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 380 | 0.0026 | 105 | c.-59 others(122): Show |
STX7 | ENSG00000079950.14 | transcript | ENST00000367941.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
STX8_chr17_9245471_9580820 | 9430044 | A | ATTTATAT others(98): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 188 | 0.0053 | 105 | c.542 others(124): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47662852 | C | CGCAGGGT others(98): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0356 | 1 | 364 | 0.0028 | 105 | c.237 others(122): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 17/20 | chr20 | TogoVar | |||||||
SV2B_chr15_91095257_91307565 | 91158673 | T | TCCCTCCC others(98): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 214 | 0.0047 | 105 | c.-39 others(126): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91158688 | T | TCCCTCCC others(98): Show |
intron_variant | MODIFIER | HG02155.hp1 NA19062.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0005 | a0001c0001t0001g0032 a0001c0010t0005g0100 |
2 | 214 | 0.0094 | 105 | c.-39 others(126): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91158698 | T | TCTCTTCC others(98): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 214 | 0.0047 | 105 | c.-39 others(126): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2B_chr15_91095257_91307565 | 91158698 | T | TCTCTTCT others(98): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0010 | a0001c0010t0073 | a0001c0010t0073g0204 | 1 | 214 | 0.0047 | 105 | c.-39 others(126): Show |
SV2B | ENSG00000185518.12 | transcript | ENST00000394232.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SV2C_chr5_76078383_76338956 | 76172426 | G | GGTCGGCC others(98): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0109 | a0001c0002t0109g0209 | 1 | 234 | 0.0043 | 105 | c.581 others(124): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152603857 | A | AGATAGAT others(98): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 homoSapiens_chm13v2.hp1 |
a0058a0084a0128 | a0058c0117a0084c0026a0128c0161 | a0058c0117t0004a0084c0026t0002a0128c0161t0001 | a0058c0117t0004g0009 a0084c0026t0002g0005 a0128c0161t0001g0075 |
3 | 174 | 0.0172 | 105 | c.67+ others(122): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(98): Show |
upstream_gene_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 420 | 0.0024 | 105 | c.-64 others(114): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767584 | A | AAGAAAGA others(98): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0074 | 1 | 410 | 0.0024 | 105 | c.*37 others(116): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3653 | chr10 | TogoVar | |||||||
TBATA_chr10_70766238_70790377 | 70767588 | A | AAGAAAGA others(98): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 1 | 410 | 0.0024 | 105 | c.*37 others(116): Show |
TBATA | ENSG00000166220.14 | transcript | ENST00000456372.4 | protein_coding | 3649 | chr10 | TogoVar | |||||||
TBC1D16_chr17_79927343_80040872 | 79929984 | C | CCCTCCCC others(98): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 HG02523.hp1 NA18612.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0312 a0001c0001t0002g0273 a0001c0001t0014g0016 others(4): Show |
7 | 334 | 0.0210 | 105 | c.*10 others(118): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2358 | chr17 | TogoVar |