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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TALDO1_chr11_742464_770012 | 749186 | CGAGGTCA others(3984): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 416 | 0.0024 | -3991 | c.97+ others(15): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FANCA_chr16_89732549_89821647 | 89817414 | GGACCTCA others(3982): Show |
G | upstream_gene_variant | MODIFIER | NA19002.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0167 | 1 | 334 | 0.0030 | -3989 | c.-47 others(10): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 768 | chr16 | TogoVar | |||||||
TSNAXIP1_chr16_67801889_67833068 | 67816132 | ATTTTTTT others(3982): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 256 | 0.0039 | -3989 | c.147 others(16): Show |
TSNAXIP1 | ENSG00000102904.15 | transcript | ENST00000561639.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113982944 | TGAATTCC others(3981): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01167.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0007t0002others(3): Show | a0001c0001t0002g0032 a0001c0002t0002g0004 a0001c0002t0002g0019 others(14): Show |
17 | 67 | 0.2537 | -3988 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
TTC8_chr14_88819651_88882988 | 88879012 | TAAATAAA others(3969): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 400 | 0.0025 | -3976 | c.*16 others(11): Show |
TTC8 | ENSG00000165533.19 | transcript | ENST00000380656.7 | protein_coding | 1025 | chr14 | TogoVar | |||||||
DOCK5_chr8_25179689_25420711 | 25209162 | AGGCTCAG others(3967): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp1 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(70): Show | a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0147 others(91): Show |
94 | 210 | 0.4476 | -3974 | c.43+ others(17): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181682014 | TGGCAATG others(3961): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0040 | a0001c0009t0040g0141 | 1 | 206 | 0.0049 | -3968 | c.105 others(21): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1370823 | ATCTCCAA others(3958): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 115 | 0.0087 | -3965 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48716258 | AGCCAAAA others(3956): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0003a0001c0023 | a0001c0003t0003a0001c0003t0013a0001c0023t0003 | a0001c0003t0003g0217 a0001c0003t0003g0218 a0001c0003t0003g0221 others(10): Show |
13 | 282 | 0.0461 | -3963 | c.-38 others(19): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 1/63 | chr4 | TogoVar | |||||||
IKBKB_chr8_42266302_42337460 | 42332913 | GCTTGAAC others(3956): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(139): Show |
146 | 278 | 0.5252 | -3963 | c.*19 others(11): Show |
IKBKB | ENSG00000104365.16 | transcript | ENST00000520810.6 | protein_coding | 454 | chr8 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1369914 | GGGCCTCA others(3955): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 115 | 0.0087 | -3962 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16424661 | ACCTCAGC others(3955): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02074.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(1): Show |
4 | 352 | 0.0114 | -3962 | c.34+ others(15): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129573768 | GATAACAG others(3954): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 94 | 0.0106 | -3961 | c.969 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1369427 | CGTCTCCA others(3952): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074 | 1 | 115 | 0.0087 | -3959 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1372331 | TAAGCCGC others(3952): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(30): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0003a0005c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0103 others(30): Show |
33 | 115 | 0.2870 | -3959 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1369419 | GAAGACGG others(3951): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 115 | 0.0087 | -3958 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
KEAP1_chr19_10481125_10508356 | 10481654 | CGTGGCTC others(3945): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02135.hp2 NA18945.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 a0001c0002t0003g0030 a0001c0002t0003g0057 others(7): Show |
12 | 392 | 0.0306 | -3952 | c.*10 others(11): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 4470 | chr19 | TogoVar | |||||||
NSMCE2_chr8_125086860_125372120 | 125096672 | GTGATCTC others(3944): Show |
G | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 244 | 0.0041 | -3951 | c.-11 others(19): Show |
NSMCE2 | ENSG00000156831.8 | transcript | ENST00000287437.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637075 | CTGTGTGT others(3943): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0198 | 1 | 223 | 0.0045 | -3950 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110941848 | AAATTCTA others(3942): Show |
A | intron_variant | MODIFIER | HG00438.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0034 |
2 | 84 | 0.0238 | -3949 | c.305 others(19): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1636913 | CTGTGTGT others(3940): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0002g0161 a0002c0002t0001g0044 others(2): Show |
5 | 223 | 0.0224 | -3947 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151869543 | GTCTCTAC others(3939): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0152 a0001c0001t0001g0155 others(19): Show |
22 | 284 | 0.0775 | -3946 | c.252 others(18): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8620808 | CCATCGGC others(3937): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00642.hp1 others(12): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0006a0001c0057others(8): Show | a0001c0001t0002a0001c0006t0002a0001c0057t0002others(8): Show | a0001c0001t0002g0026 a0001c0001t0002g0301 a0001c0006t0002g0067 others(10): Show |
15 | 442 | 0.0339 | -3944 | c.*11 others(11): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 1057 | chr4 | TogoVar | |||||||
NDUFA7_chr19_8306284_8326375 | 8310729 | CTGGGTAT others(3934): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00621.hp1 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0121 | 1 | 402 | 0.0025 | -3941 | c.251 others(13): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113984701 | CCATCACT others(3928): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(42): Show |
45 | 67 | 0.6716 | -3935 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
HIBCH_chr2_190198920_190324826 | 190276671 | TACCTGAA others(3917): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0049 | 1 | 368 | 0.0027 | -3924 | c.438 others(18): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 6/13 | chr2 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1013628 | CGGTGCCT others(3914): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | -3921 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RAD51B_chr14_67814779_68483093 | 67903942 | TTCCTTCT others(3912): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 84 | 0.0119 | -3919 | c.756 others(19): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211906513 | GAAAGTAT others(3911): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0018 | a0001c0001t0008g0004 a0001c0002t0018g0010 |
2 | 56 | 0.0357 | -3918 | c.421 others(19): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89842779 | ATTTTTGT others(3908): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0028 | 1 | 312 | 0.0032 | -3915 | c.346 others(17): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
FGGY_chr1_59292094_59767730 | 59581052 | CACATGAA others(3905): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG02055.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 others(13): Show |
16 | 166 | 0.0964 | -3912 | c.904 others(19): Show |
FGGY | ENSG00000172456.18 | transcript | ENST00000303721.12 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88135612 | AGCCATTC others(3905): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG03490.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0319 | 1 | 446 | 0.0022 | -3912 | c.-10 others(14): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
GNB2_chr7_100668740_100684169 | 100668951 | AGTGGCTC others(3904): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 374 | 0.0027 | -3911 | c.-50 others(11): Show |
GNB2 | ENSG00000172354.10 | transcript | ENST00000303210.9 | protein_coding | 4788 | chr7 | TogoVar | |||||||
CNRIP1_chr2_68288010_68324949 | 68301708 | AGTGAAAC others(3897): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 424 | 0.0024 | -3904 | c.330 others(18): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
TMEM123_chr11_102391332_102457765 | 102432853 | GGTCAAAG others(3894): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0173 | 1 | 204 | 0.0049 | -3901 | c.157 others(19): Show |
TMEM123 | ENSG00000152558.15 | transcript | ENST00000398136.7 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
HPS3_chr3_149124638_149178732 | 149126713 | CTACTAAA others(3893): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG01106.hp2 | a0006 | a0006c0028 | a0006c0028t0043 | a0006c0028t0043g0304 | 1 | 392 | 0.0026 | -3900 | c.-30 others(13): Show |
HPS3 | ENSG00000163755.9 | transcript | ENST00000296051.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
TCP11L1_chr11_33034572_33078550 | 33045352 | CAAAAAAA others(3891): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0186 | 1 | 390 | 0.0026 | -3898 | c.163 others(17): Show |
TCP11L1 | ENSG00000176148.16 | transcript | ENST00000334274.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31685460 | ACATAGTT others(3888): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 270 | 0.0037 | -3895 | c.114 others(21): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1013587 | CGGACAGA others(3883): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 |
a0002 | a0002c0006a0002c0007 | a0002c0006t0021a0002c0007t0008 | a0002c0006t0021g0014 a0002c0007t0008g0040 |
2 | 40 | 0.0500 | -3890 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNRNP27_chr2_69888956_69910236 | 69891917 | GCCTCGGC others(3883): Show |
G | exon_loss_variant | HIGH | NA18963.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0047 | 1 | 440 | 0.0023 | -3890 | c.-20 others(13): Show |
SNRNP27 | ENSG00000124380.11 | transcript | ENST00000244227.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235524 | GCCTCCCG others(3881): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 | 1 | 106 | 0.0094 | -3888 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75474034 | AGATGTGG others(3881): Show |
A | splice_region_variant | LOW | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0061 | a0001c0005t0061g0128 | 1 | 358 | 0.0028 | -3888 | c.*45 others(11): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32937680 | GTGATCTT others(3880): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01346.hp1 others(24): Show |
a0001a0002a0005others(10): Show | a0001c0001a0002c0002a0005c0008others(10): Show | a0001c0001t0004a0001c0001t0005a0002c0002t0001others(13): Show | a0001c0001t0004g0048 a0001c0001t0005g0255 a0001c0001t0005g0256 others(24): Show |
27 | 284 | 0.0951 | -3887 | c.279 others(19): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 22/26 | chr20 | TogoVar | |||||||
SMARCA2_chr9_2010347_2198620 | 2147643 | CGAGACCA others(3879): Show |
C | intron_variant | MODIFIER | HG00738.hp1 NA20805.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0002 | a0001c0003t0001g0020 a0001c0008t0002g0295 |
2 | 316 | 0.0063 | -3886 | c.398 others(21): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ATL3_chr11_63619087_63676376 | 63672491 | AGGCGCGG others(3878): Show |
A | upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0051 | 1 | 242 | 0.0041 | -3885 | c.-50 others(11): Show |
ATL3 | ENSG00000184743.13 | transcript | ENST00000398868.8 | protein_coding | 1116 | chr11 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 113984471 | CGTCCATC others(3876): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0010 | 1 | 67 | 0.0149 | -3883 | c.224 others(19): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2902058 | ACGGAAGG others(3875): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0145 | 1 | 322 | 0.0031 | -3882 | c.*69 others(10): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 4083 | chr7 | TogoVar | |||||||
AGL_chr1_99845361_99929020 | 99924797 | TTTGCTTA others(3874): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0019 | 1 | 318 | 0.0031 | -3881 | c.*31 others(11): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 778 | chr1 | TogoVar | |||||||
GREB1L_chr18_21237232_21531112 | 21372742 | AGAAACCC others(3874): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 148 | 0.0068 | -3881 | c.-10 others(16): Show |
GREB1L | ENSG00000141449.16 | transcript | ENST00000424526.7 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARMC2_chr6_108843422_108979476 | 108957146 | CTTAGGCA others(3873): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 290 | 0.0035 | -3880 | c.191 others(18): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |