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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHN1_chr1_961482_980865 | 977894 | CCACTCCC others(82): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0049 | 1 | 420 | 0.0024 | -89 | c.*33 others(100): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 2030 | chr1 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153392069 | ACACACCA others(82): Show |
A | downstream_gene_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 344 | 0.0029 | -89 | c.*47 others(100): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 3569 | chrX | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41865073 | CCACTCCC others(82): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(141): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0134 a0001c0001t0002g0199 a0001c0001t0002g0213 others(138): Show |
144 | 393 | 0.3664 | -89 | c.-9- others(104): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 1/23 | chr21 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3325970 | TCCTTGGC others(82): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 207 | 0.0048 | -89 | c.439 others(108): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3326032 | CTTGGCCA others(82): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 208 | 0.0048 | -89 | c.439 others(108): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151855385 | ACACACAC others(82): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG03688.hp2 HG03927.hp2 |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0001a0001c0007t0001a0002c0004t0023 | a0001c0001t0001g0082 a0001c0007t0001g0083 a0002c0004t0023g0087 |
3 | 248 | 0.0121 | -89 | c.114 others(108): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122133 | AGGGTCGT others(82): Show |
A | intron_variant | MODIFIER | HG01358.hp1 NA18947.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054 a0001c0001t0001g0076 a0001c0001t0001g0202 others(1): Show |
4 | 280 | 0.0143 | -89 | c.335 others(108): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRMT7_chr16_68306019_68363584 | 68362605 | GCCAGGTC others(82): Show |
G | downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 282 | 0.0035 | -89 | c.*53 others(100): Show |
PRMT7 | ENSG00000132600.18 | transcript | ENST00000441236.3 | protein_coding | 4022 | chr16 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73184305 | CCCCCCCA others(82): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0362 | 1 | 376 | 0.0027 | -89 | c.481 others(106): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PTCH1_chr9_95437980_95514266 | 95512679 | CCGGGTTT others(82): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0121 | 1 | 282 | 0.0035 | -89 | c.-44 others(100): Show |
PTCH1 | ENSG00000185920.19 | transcript | ENST00000331920.11 | protein_coding | 3414 | chr9 | TogoVar | |||||||
PTGDR_chr14_52262698_52281724 | 52277819 | TGCATGCT others(82): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0062 | 1 | 436 | 0.0023 | -89 | c.*28 others(100): Show |
PTGDR | ENSG00000168229.4 | transcript | ENST00000306051.3 | protein_coding | 1096 | chr14 | TogoVar | |||||||
PTK2B_chr8_27320552_27464386 | 27322795 | TCCTCTTT others(82): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp2 HG02630.hp1 others(15): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0008t0003others(3): Show | a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0002t0001g0226 others(15): Show |
18 | 326 | 0.0552 | -89 | c.-29 others(100): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 2756 | chr8 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972285 | AGGGGAGG others(82): Show |
A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0296 | 1 | 327 | 0.0031 | -89 | c.150 others(108): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132694562 | AGTGAGCG others(82): Show |
A | intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0005 | a0001c0004t0002g0044 a0001c0005t0005g0076 |
2 | 348 | 0.0057 | -89 | c.237 others(106): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
RAB3IP_chr12_69733860_69828199 | 69759646 | TGGGCGGG others(82): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0076a0001c0001t0078 | a0001c0001t0076g0033 a0001c0001t0078g0032 |
2 | 391 | 0.0051 | -89 | c.510 others(106): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RAB3IP_chr12_69733860_69828199 | 69759660 | ACCCCCAC others(82): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0228 | 1 | 400 | 0.0025 | -89 | c.510 others(106): Show |
RAB3IP | ENSG00000127328.22 | transcript | ENST00000247833.12 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79491053 | AGAGGGGA others(82): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 117 | 0.0085 | -89 | c.-31 others(108): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RFX4_chr12_106578004_106767803 | 106718155 | ATGCCCAA others(82): Show |
A | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 294 | 0.0034 | -89 | c.113 others(108): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 11/17 | chr12 | TogoVar | |||||||
RGPD4_chr2_107821892_107897544 | 107828218 | GCGGCGGC others(82): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0228 | 1 | 339 | 0.0029 | -89 | c.72+ others(104): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGPD8_chr2_112363369_112438645 | 112432885 | TCCGCCTC others(82): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0020 | a0005c0020t0011 | a0005c0020t0011g0065 | 1 | 199 | 0.0050 | -89 | c.72+ others(102): Show |
RGPD8 | ENSG00000169629.12 | transcript | ENST00000302558.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3440598 | TCCCAGCA others(82): Show |
T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01070.hp1 HG01070.hp2 others(70): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(25): Show | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0058 others(69): Show |
73 | 308 | 0.2370 | -89 | c.*91 others(99): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 686 | chr4 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1077858 | GGGGACTC others(82): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 321 | 0.0031 | -89 | c.-39 others(100): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3553 | chr1 | TogoVar | |||||||
RPL14_chr3_40452339_40473587 | 40464822 | TCATTGGT others(82): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0001 | 1 | 416 | 0.0024 | -89 | c.*25 others(100): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 6/6 | 2591 | chr3 | TogoVar | ||||||
RPL37_chr5_40820262_40840222 | 40821161 | GTATTATA others(82): Show |
G | downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | -89 | c.*11 others(102): Show |
RPL37 | ENSG00000145592.14 | transcript | ENST00000274242.10 | protein_coding | 4100 | chr5 | TogoVar | |||||||
RTL1_chr14_100874753_100908722 | 100875508 | TCCTCACC others(82): Show |
T | downstream_gene_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0258 | 1 | 428 | 0.0023 | -89 | c.*51 others(100): Show |
RTL1 | ENSG00000254656.3 | transcript | ENST00000649591.1 | protein_coding | 4244 | chr14 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626347 | ATATATAT others(82): Show |
A | upstream_gene_variant | MODIFIER | NA18970.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0150 a0001c0001t0015g0151 |
2 | 198 | 0.0101 | -89 | c.-24 others(100): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2050 | chr7 | TogoVar | |||||||
SAP130_chr2_127936222_128033059 | 127979499 | AAGATAGA others(82): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
a0001 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | 348 | 0.6580 | -89 | c.195 others(108): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SCGB2A2_chr11_62265158_62278160 | 62277923 | TCTCGCTC others(82): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 194 | 0.0052 | -89 | c.*49 others(100): Show |
SCGB2A2 | ENSG00000110484.7 | transcript | ENST00000227918.3 | protein_coding | 4764 | chr11 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414097 | AATATATT others(82): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0032a0001c0001t0033a0005c0005t0030others(1): Show | a0001c0001t0032g0213 a0001c0001t0033g0212 a0005c0005t0030g0042 others(1): Show |
4 | 392 | 0.0102 | -89 | c.341 others(107): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289770 | TGTCTCTG others(82): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 NA19064.hp2 |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0007 | a0002c0002t0001g0058 a0002c0002t0001g0090 a0006c0010t0007g0271 |
3 | 285 | 0.0105 | -89 | c.166 others(106): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134708537 | GTTGGCTC others(82): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 |
a0004 | a0004c0005a0004c0014 | a0004c0005t0001a0004c0014t0001 | a0004c0005t0001g0018 a0004c0014t0001g0019 |
2 | 316 | 0.0063 | -89 | c.255 others(105): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84086474 | TTATTATA others(82): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0039 others(84): Show |
87 | 273 | 0.3187 | -89 | c.453 others(108): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55829690 | ACAGCTCT others(82): Show |
A | intron_variant | MODIFIER | NA18970.hp2 NA18984.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show |
4 | 388 | 0.0103 | -89 | c.720 others(106): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235038288 | TAATATAT others(82): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02965.hp1 HG03195.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0008 a0002c0001t0001g0045 a0002c0001t0001g0333 |
3 | 341 | 0.0088 | -89 | c.119 others(106): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | chr2 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36701360 | TTGTGCTG others(82): Show |
T | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 408 | 0.0025 | -89 | c.175 others(106): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 1/10 | chr21 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1096714 | AGGAAGGA others(82): Show |
A | intron_variant | MODIFIER | HG03710.hp1 NA18984.hp2 NA19074.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0023a0002c0011t0002 | a0001c0001t0023g0033 a0002c0011t0002g0030 a0002c0011t0002g0031 others(1): Show |
4 | 118 | 0.0339 | -89 | c.125 others(106): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC26A3_chr7_107760469_107808223 | 107770153 | CTTTTTTT others(82): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(134): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0012others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0035 others(118): Show |
137 | 143 | 0.9580 | -89 | c.206 others(108): Show |
SLC26A3 | ENSG00000091138.13 | transcript | ENST00000340010.10 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234095360 | TATATCCA others(82): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG02055.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0091 a0001c0002t0002g0129 |
2 | 158 | 0.0127 | -89 | c.284 others(110): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10813776 | ATGTTGGC others(82): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0143 | 1 | 360 | 0.0028 | -89 | c.-24 others(100): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 2451 | chr3 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1392473 | GGACAGGT others(82): Show |
G | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0147 | 1 | 372 | 0.0027 | -89 | c.*21 others(100): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 320 | chr5 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168274 | AAGAAAGA others(82): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0000 | 1 | 394 | 0.0025 | -89 | c.-30 others(100): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2919 | chr12 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61781416 | CTCCAGCC others(82): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0028 | a0002c0002t0028g0067 | 1 | 354 | 0.0028 | -89 | c.826 others(104): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54513777 | TAATATAT others(82): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0163 a0001c0002t0014g0162 |
2 | 388 | 0.0052 | -89 | c.-41 others(100): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3981 | chr5 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826657 | ACAAAAGC others(82): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 300 | 0.0033 | -89 | c.12+ others(104): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7448918 | CCCTCCCT others(82): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0009 | a0001c0009t0037 | a0001c0009t0037g0042 | 1 | 167 | 0.0060 | -89 | c.548 others(108): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOX11_chr2_5687384_5706385 | 5705934 | AGGAATTG others(82): Show |
A | downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0167 | a0001c0001t0167g0000 | 1 | 431 | 0.0023 | -89 | c.*11 others(102): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4550 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706169 | ACTGGGGT others(82): Show |
A | downstream_gene_variant | MODIFIER | NA19012.hp1 NA19066.hp2 NA19067.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0052a0001c0001t0130 | a0001c0001t0008g0000 a0001c0001t0052g0000 a0001c0001t0130g0000 |
4 | 411 | 0.0097 | -89 | c.*12 others(102): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4785 | chr2 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895496 | TTATATAT others(82): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 229 | 0.0044 | -89 | c.63+ others(106): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895576 | TTATATAT others(82): Show |
T | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 225 | 0.0044 | -89 | c.63+ others(106): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895616 | TTATATAT others(82): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 210 | 0.0048 | -89 | c.63+ others(106): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar |