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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LEPR_chr1_65415668_65646559 | 65575256 | AGAGTTCC others(2956): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01934.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0011a0003c0004t0006a0003c0004t0018 | a0001c0001t0011g0214 a0001c0001t0011g0216 a0003c0004t0006g0028 others(2): Show |
5 | 214 | 0.0234 | -2963 | c.494 others(17): Show |
LEPR | ENSG00000116678.20 | transcript | ENST00000349533.11 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637278 | ATCCATCC others(2955): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG03491.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0146 a0002c0002t0001g0057 |
2 | 219 | 0.0091 | -2962 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1399851 | TGTCCTCC others(2953): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | -2960 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217672539 | TCAAAGAG others(2947): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 250 | 0.0040 | -2954 | c.291 others(17): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
USPL1_chr13_30612920_30665766 | 30637916 | CTCATAAG others(2941): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 304 | 0.0033 | -2948 | c.982 others(16): Show |
USPL1 | ENSG00000132952.12 | transcript | ENST00000255304.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15945450 | GCCACACT others(2939): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 264 | 0.0038 | -2946 | c.375 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176274058 | TAGATCCC others(2936): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 358 | 0.0028 | -2943 | c.130 others(19): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15945908 | CCTTTGGT others(2935): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA18953.hp2 NA18965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | 186 | 0.0323 | -2942 | c.375 others(21): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 634512 | TATGATTA others(2935): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 412 | 0.0024 | -2942 | c.994 others(17): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 7/9 | chr18 | TogoVar | |||||||
AKAP9_chr7_91935862_92115673 | 92072516 | AGTATAAA others(2934): Show |
A | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 304 | 0.0033 | -2941 | c.661 others(19): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 28/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRRC36_chr16_67321815_67390204 | 67374520 | GAGTAGCT others(2930): Show |
G | exon_loss_variant | HIGH | HG02922.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0119 | 1 | 192 | 0.0052 | -2937 | c.149 others(17): Show |
LRRC36 | ENSG00000159708.18 | transcript | ENST00000329956.11 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110714891 | AAGAGCAG others(2927): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(4): Show | a0001c0001t0002g0169 a0001c0001t0009g0174 a0001c0002t0003g0101 others(10): Show |
13 | 324 | 0.0401 | -2934 | c.628 others(19): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88079128 | GTCCCAGC others(2926): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0106 others(97): Show |
101 | 350 | 0.2886 | -2933 | c.*24 others(11): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1813 | chr16 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17658930 | GCACCTGT others(2925): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01081.hp1 others(10): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0015a0003c0004t0016a0003c0004t0030others(2): Show | a0003c0004t0015g0083 a0003c0004t0015g0084 a0003c0004t0015g0252 others(10): Show |
13 | 304 | 0.0428 | -2932 | c.121 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HACE1_chr6_104723094_104864919 | 104812951 | TGCACAAA others(2924): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(92): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0134 a0001c0001t0001g0135 others(91): Show |
95 | 344 | 0.2762 | -2931 | c.535 others(17): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
ZNF138_chr7_64789428_64838680 | 64819747 | TAAAATTT others(2922): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02257.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0117 a0002c0002t0005g0002 a0002c0002t0005g0115 others(7): Show |
14 | 430 | 0.0326 | -2929 | c.208 others(17): Show |
ZNF138 | ENSG00000197008.10 | transcript | ENST00000307355.12 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2921): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG02572.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0193 others(7): Show |
10 | 288 | 0.0347 | -2928 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429530 | CCAGCAGT others(2921): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047 | a0001c0001t0001g0340 a0001c0001t0047g0337 |
2 | 276 | 0.0072 | -2928 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(2921): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 302 | 0.0033 | -2928 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429718 | TCAGCAGT others(2921): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0246 | 1 | 349 | 0.0029 | -2928 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68133664 | ACTGAAAT others(2918): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0030 others(253): Show |
257 | 258 | 0.9961 | -2925 | c.470 others(17): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIK3C2A_chr11_17081575_17212986 | 17202071 | AATGGTGA others(2915): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 340 | 0.0029 | -2922 | c.-66 others(17): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6337120 | ATATATAT others(2913): Show |
A | intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 293 | 0.0034 | -2920 | c.791 others(17): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | |||||||
FLG_chr1_152297165_152330239 | 152307365 | GTGCCCAT others(2912): Show |
G | disruptive_inframe_deletion | MODERATE | NA18968.hp2 NA18984.hp1 NA18998.hp2 |
a0030 | a0030c0021 | a0030c0021t0001 | a0030c0021t0001g0029 | 3 | 203 | 0.0148 | -2919 | c.460 others(9): Show |
p.Gln others(15): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 7592/12793 | 4602/12186 | 1534/4061 | chr1 | TogoVar | |||
EVI5_chr1_92503696_92790108 | 92740268 | GTAGCTTT others(2911): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0152 | 1 | 166 | 0.0060 | -2918 | c.-81 others(17): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
MXI1_chr10_110202605_110292365 | 110252120 | TGATAGAA others(2910): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0026 | 1 | 370 | 0.0027 | -2917 | c.437 others(18): Show |
MXI1 | ENSG00000119950.21 | transcript | ENST00000332674.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62511732 | TCATCCCC others(2908): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG02572.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0004a0001c0006a0001c0012 | a0001c0004t0001a0001c0006t0001a0001c0006t0010others(1): Show | a0001c0004t0001g0004 a0001c0004t0001g0005 a0001c0004t0001g0006 others(3): Show |
6 | 328 | 0.0183 | -2915 | c.178 others(18): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
H1-7_chr12_48323980_48335279 | 48331683 | TGTAATTA others(2907): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(32): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0004 | a0004c0004t0001g0000 a0004c0004t0004g0000 |
35 | 422 | 0.0829 | -2914 | c.*16 others(11): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 1405 | chr12 | TogoVar | |||||||
HIC2_chr22_21412371_21456463 | 21453549 | TTGGCTCA others(2907): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 286 | 0.0035 | -2914 | c.*68 others(11): Show |
HIC2 | ENSG00000169635.10 | transcript | ENST00000407464.7 | protein_coding | 2087 | chr22 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17679248 | GTCAATTG others(2905): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0064 | 1 | 304 | 0.0033 | -2912 | c.122 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101213300 | TTTCTGGG others(2902): Show |
T | intron_variant | MODIFIER | NA18975.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0333 a0001c0001t0005g0344 |
2 | 420 | 0.0048 | -2909 | c.816 others(19): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
HSDL2_chr9_112375108_112477405 | 112434804 | CTTAAGAC others(2899): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0032 a0001c0001t0014g0031 |
2 | 364 | 0.0055 | -2906 | c.599 others(16): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111125617 | AGGCAGGC others(2896): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02135.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0055 a0001c0001t0006g0008 a0001c0001t0006g0020 others(3): Show |
10 | 396 | 0.0253 | -2903 | c.394 others(17): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41754765 | CAGAGAAC others(2896): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 198 | 0.0051 | -2903 | c.133 others(19): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 14/16 | chr5 | TogoVar | |||||||
ZFTRAF1_chr8_144444582_144467871 | 144457731 | CCACGATT others(2896): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 444 | 0.0023 | -2903 | c.372 others(17): Show |
ZFTRAF1 | ENSG00000187954.14 | transcript | ENST00000530374.6 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
RNF139_chr8_124469880_124493618 | 124480141 | AAAAAAAA others(2894): Show |
A | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 406 | 0.0025 | -2901 | c.181 others(17): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
LCE2C_chr1_152670279_152681569 | 152671316 | ACATGTAT others(2892): Show |
A | upstream_gene_variant | MODIFIER | NA18946.hp1 NA19007.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 424 | 0.0071 | -2899 | c.-40 others(11): Show |
LCE2C | ENSG00000187180.4 | transcript | ENST00000368783.2 | protein_coding | 3962 | chr1 | TogoVar | |||||||
HID1_chr17_74945742_74977759 | 74973581 | AGGCGGAT others(2891): Show |
A | upstream_gene_variant | MODIFIER | NA20752.hp1 NA20805.hp2 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0025 | 2 | 362 | 0.0055 | -2898 | c.-38 others(10): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 823 | chr17 | TogoVar | |||||||
KIRREL1_chr1_157988645_158105262 | 158016432 | TCAAAGGC others(2889): Show |
T | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 286 | 0.0035 | -2896 | c.52+ others(17): Show |
KIRREL1 | ENSG00000183853.18 | transcript | ENST00000359209.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48827270 | ACCAGCCT others(2883): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG00741.hp1 others(48): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0003a0004c0004t0005others(6): Show | a0002c0003t0001g0029 a0004c0004t0003g0072 a0004c0004t0003g0074 others(47): Show |
51 | 326 | 0.1564 | -2890 | c.-38 others(10): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 3764 | chr17 | TogoVar | |||||||
MCM9_chr6_118808455_118940159 | 118848917 | GTTTCCAA others(2882): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02895.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 others(4): Show |
7 | 346 | 0.0202 | -2889 | c.132 others(19): Show |
MCM9 | ENSG00000111877.18 | transcript | ENST00000619706.5 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
PLPPR5_chr1_98885245_99009861 | 98939287 | TATAGAGG others(2882): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0246 | 1 | 278 | 0.0036 | -2889 | c.621 others(19): Show |
PLPPR5 | ENSG00000117598.14 | transcript | ENST00000263177.5 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33384465 | TTCCAATG others(2880): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02148.hp2 HG02257.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0025a0001c0002t0001others(3): Show | a0001c0001t0001g0031 a0001c0001t0025g0087 a0001c0002t0001g0033 others(3): Show |
6 | 108 | 0.0556 | -2887 | c.893 others(16): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2874): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0063 others(37): Show |
40 | 318 | 0.1258 | -2881 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637311 | GCACAGCC others(2873): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG03834.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0163 a0002c0002t0001g0018 |
2 | 221 | 0.0090 | -2880 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637196 | GTCCATCC others(2872): Show |
G | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 215 | 0.0047 | -2879 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1430202 | GTCTTCTG others(2872): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 358 | 0.0028 | -2879 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1404214 | TGCTTACT others(2856): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02698.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004 | a0001c0002t0010a0002c0001t0003a0002c0001t0011others(2): Show | a0001c0002t0010g0008 a0002c0001t0003g0021 a0002c0001t0011g0002 others(2): Show |
5 | 40 | 0.1250 | -2863 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 210605 | TGAGACAG others(2855): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0240 | 1 | 404 | 0.0025 | -2862 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129810795 | ACAATGTC others(2854): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0056 | 1 | 92 | 0.0109 | -2861 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar |