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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMPX_chrX_21700978_21763116 | 21728214 | TTCTCTCT others(19): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0036 others(9): Show |
16 | 33 | 0.4848 | -26 | c.*14 others(43): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp1 others(43): Show |
a0001 | a0001c0002a0001c0007a0001c0012 | a0001c0002t0001a0001c0002t0002a0001c0007t0002others(1): Show | a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0024 others(36): Show |
46 | 197 | 0.2335 | -26 | c.400 others(43): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54185487 | AATAAATA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00733.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0051 others(11): Show |
50 | 411 | 0.1217 | -26 | c.-19 others(43): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(19): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0118 | 1 | 166 | 0.0060 | -26 | c.56- others(41): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0247 | 1 | 120 | 0.0083 | -26 | c.56- others(41): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99119003 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 4 | 0.2500 | -26 | c.55+ others(43): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 NA19043.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0070 a0004c0004t0003g0027 a0004c0004t0003g0028 others(1): Show |
4 | 13 | 0.3077 | -26 | c.173 others(45): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245813860 | CTATATAT others(19): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00735.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0031 others(23): Show |
26 | 84 | 0.3095 | -26 | c.107 others(47): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993577 | AAAAGATA others(19): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 114 | 0.0088 | -26 | c.532 others(45): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246116201 | GACACACA others(19): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02486.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0002c0003t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0003 a0002c0003t0002g0122 a0002c0003t0002g0124 others(4): Show |
7 | 27 | 0.2593 | -26 | c.532 others(47): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246299881 | GGGTACTA others(19): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0029 others(65): Show |
68 | 150 | 0.4533 | -26 | c.531 others(45): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246299893 | GAAAAATG others(19): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01981.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 others(27): Show |
30 | 150 | 0.2000 | -26 | c.531 others(45): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246395698 | ATGGCTGG others(19): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 | 1 | 150 | 0.0067 | -26 | c.165 others(45): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246395721 | ACACCAGT others(19): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 a0002c0007t0001g0140 |
2 | 139 | 0.0144 | -26 | c.165 others(45): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83610722 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 364 | 0.0027 | -26 | c.885 others(39): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136373567 | ACACCAGG others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 378 | 0.0026 | -26 | c.*22 others(37): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 2003 | chr9 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127953151 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01496.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0146 others(10): Show |
13 | 37 | 0.3514 | -26 | c.166 others(47): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 NA19004.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0002a0002c0010t0002 | a0001c0001t0002g0085 a0002c0010t0002g0019 |
2 | 13 | 0.1538 | -26 | c.732 others(41): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 52446 | CAAAAAAA others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18970.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 23 | 0.0870 | -26 | c.-15 others(37): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1381 | chr16 | TogoVar | |||||||
SNRPD1_chr18_21607314_21638520 | 21610219 | TTACCAGG others(19): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0219 | 1 | 356 | 0.0028 | -26 | c.-22 others(37): Show |
SNRPD1 | ENSG00000167088.11 | transcript | ENST00000300413.10 | protein_coding | 2094 | chr18 | TogoVar | |||||||
SNTB1_chr8_120530756_120817046 | 120561313 | CCATCTCA others(19): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0250 | 1 | 252 | 0.0040 | -26 | c.113 others(47): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69292364 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0178 a0001c0001t0002g0091 a0001c0001t0002g0109 |
3 | 215 | 0.0140 | -26 | c.134 others(45): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69292392 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02602.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0043others(1): Show | a0001c0001t0002g0134 a0001c0001t0007g0151 a0001c0001t0007g0153 others(8): Show |
11 | 209 | 0.0526 | -26 | c.134 others(45): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50259510 | AAGAAAGA others(19): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02895.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0020a0001c0001t0023others(2): Show | a0001c0001t0006g0051 a0001c0001t0006g0066 a0001c0001t0020g0043 others(3): Show |
6 | 71 | 0.0845 | -26 | c.-28 others(45): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50734800 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | NA18906.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0037 | a0001c0001t0017g0057 a0001c0001t0037g0034 |
2 | 81 | 0.0247 | -26 | c.128 others(47): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNX11_chr17_48102766_48128601 | 48119535 | TCTGCCTC others(19): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 414 | 0.0024 | -26 | c.539 others(41): Show |
SNX11 | ENSG00000002919.15 | transcript | ENST00000359238.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SNX13_chr7_17785761_17945494 | 17801009 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0254 | 1 | 13 | 0.0769 | -26 | c.229 others(43): Show |
SNX13 | ENSG00000071189.21 | transcript | ENST00000428135.7 | protein_coding | 22/25 | chr7 | TogoVar | |||||||
SNX15_chr11_65022439_65045572 | 65029799 | ACTCCTGA others(19): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0074 | 1 | 336 | 0.0030 | -26 | c.99+ others(41): Show |
SNX15 | ENSG00000110025.13 | transcript | ENST00000377244.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNX16_chr8_81794583_81847185 | 81842468 | CAGAGAGA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 51 | 0.0196 | -26 | c.-46 others(35): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 284 | chr8 | TogoVar | |||||||
SNX27_chr1_151607050_151704080 | 151676270 | ATTTTTTT others(19): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG03098.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0031a0001c0003t0044others(1): Show | a0001c0001t0001g0280 a0001c0001t0001g0339 a0001c0001t0031g0007 others(3): Show |
7 | 8 | 0.8750 | -26 | c.115 others(45): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12476377 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 161 | 0.0062 | -26 | c.203 others(45): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12575843 | TTTTTGTT others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01081.hp1 others(10): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(10): Show | a0001c0001t0002g0020 a0001c0001t0008g0175 a0001c0001t0013g0009 others(10): Show |
13 | 174 | 0.0747 | -26 | c.*72 others(37): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 1557 | chr16 | TogoVar | |||||||
SNX31_chr8_100567889_100654665 | 100581311 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0005a0006c0006t0002 | a0002c0002t0005g0038 a0006c0006t0002g0037 |
2 | 290 | 0.0069 | -26 | c.117 others(45): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34559014 | CACACACA others(19): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 others(3): Show |
6 | 320 | 0.0188 | -26 | c.*40 others(37): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 2078 | chr14 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98663252 | GGTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG02132.hp1 NA18977.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 a0002c0003t0001g0130 |
2 | 12 | 0.1667 | -26 | c.180 others(43): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2317251 | CTTTTTTT others(19): Show |
C | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02155.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0119 a0001c0001t0009g0106 a0001c0001t0009g0111 |
3 | 13 | 0.2308 | -26 | c.-28 others(37): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 2811 | chr7 | TogoVar | |||||||
SOAT1_chr1_179288797_179363680 | 179344352 | GGTTTTTT others(19): Show |
G | intron_variant | MODIFIER | NA18978.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0054a0001c0002t0024 | a0001c0001t0054g0068 a0001c0002t0024g0243 |
2 | 10 | 0.2000 | -26 | c.988 others(41): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SOAT1_chr1_179288797_179363680 | 179348760 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(23): Show | a0001c0001t0002g0311 a0001c0001t0002g0326 a0001c0001t0004g0005 others(131): Show |
137 | 151 | 0.9073 | -26 | c.121 others(41): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107656344 | AGAAAGAA others(19): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp1 HG01081.hp2 others(38): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0110 a0001c0001t0001g0228 a0001c0001t0002g0002 others(38): Show |
41 | 294 | 0.1395 | -26 | c.*4- others(41): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
SOCS7_chr17_38346844_38410593 | 38388027 | CTCCCAAA others(19): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0058 | 1 | 288 | 0.0035 | -26 | c.168 others(45): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36852287 | TGGGCCAC others(19): Show |
T | intron_variant | MODIFIER | HG03017.hp2 HG03688.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0186 others(1): Show |
4 | 280 | 0.0143 | -26 | c.687 others(45): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36858463 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 a0001c0001t0005g0232 |
2 | 181 | 0.0110 | -26 | c.687 others(43): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577604 | TACACACA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01099.hp2 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0036 others(19): Show |
22 | 80 | 0.2750 | -26 | c.*11 others(37): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 124 | chr21 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33577677 | ACACACAC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0055 | 1 | 361 | 0.0028 | -26 | c.*12 others(37): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 197 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95340827 | GCTGGGAT others(19): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01109.hp2 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0155 a0001c0001t0003g0009 a0001c0001t0003g0023 others(78): Show |
81 | 298 | 0.2718 | -26 | c.267 others(43): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 28/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731854 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0021 | 1 | 310 | 0.0032 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731858 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0096 | 1 | 299 | 0.0033 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731864 | CTCTATAT others(19): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0273 | 1 | 261 | 0.0038 | -26 | c.-41 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185735493 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0307 | 1 | 310 | 0.0032 | -26 | c.-96 others(43): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106606274 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
a0001a0007a0011 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0025 a0001c0001t0001g0110 a0001c0001t0002g0003 others(20): Show |
23 | 68 | 0.3382 | -26 | c.316 others(43): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar |