regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0027 | a0002c0003t0027g0233 | 1 | 254 | 0.0039 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1010): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0203 | 1 | 254 | 0.0039 | 1017 | c.305 others(1034): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(1010): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 142 | 0.0070 | 1017 | c.245 others(1034): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(1010): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 370 | 0.0027 | 1017 | c.891 others(1034): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1581197 | A | ACACAGTC others(1010): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | 1017 | c.144 others(1038): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1010): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0041 | a0041c0122 | a0041c0122t0001 | a0041c0122t0001g0227 | 1 | 252 | 0.0040 | 1017 | c.118 others(1036): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1010): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0149 | a0149c0227 | a0149c0227t0001 | a0149c0227t0001g0142 | 1 | 252 | 0.0040 | 1017 | c.118 others(1036): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49067407 | A | AGTGTTAT others(1010): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02071.hp1 HG02257.hp1 others(16): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0005 | a0001c0001t0007a0001c0001t0037a0001c0001t0038others(6): Show | a0001c0001t0007g0002a0001c0001t0007g0105a0001c0001t0007g0106others(16): Show | 19 | 290 | 0.0655 | 1017 | c.202 others(1038): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928218 | G | GTGGTGGT others(1010): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0240 | 1 | 288 | 0.0035 | 1017 | c.190 others(1036): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(1010): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0308 | 1 | 366 | 0.0027 | 1017 | c.666 others(1034): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(1010): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0281 | 1 | 282 | 0.0036 | 1017 | c.684 others(1030): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(1010): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0037a0001c0001t0071others(2): Show | a0001c0001t0020g0002a0001c0001t0020g0003a0001c0001t0020g0207others(5): Show | 8 | 282 | 0.0284 | 1017 | c.684 others(1030): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(1010): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 155 | 0.0065 | 1017 | c.112 others(1036): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1010): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0099 | 1 | 350 | 0.0029 | 1017 | c.94- others(1030): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(1010): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 274 | 0.0037 | 1017 | c.804 others(1034): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1010): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 276 | 0.0036 | 1017 | c.*65 others(1028): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(1010): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 370 | 0.0027 | 1017 | c.-27 others(1028): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1010): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 276 | 0.0036 | 1017 | c.100 others(1036): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877117 | G | GGGAGGTT others(1010): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 274 | 0.0037 | 1017 | c.224 others(1036): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(1010): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0111 | 1 | 250 | 0.0040 | 1017 | c.225 others(1034): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1010): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0030a0001c0001t0004g0029a0001c0001t0004g0031others(4): Show | 7 | 286 | 0.0245 | 1017 | c.143 others(1036): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1010): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0241 | 1 | 286 | 0.0035 | 1017 | c.143 others(1036): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097052 | T | TCCTCACT others(1010): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0024a0003c0004t0001g0029 | 2 | 66 | 0.0303 | 1017 | c.234 others(1032): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OPRL1_chr20_64075082_64105633 | 64097052 | T | TCCTCACT others(1010): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01169.hp1 HG01496.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0022others(7): Show | 12 | 66 | 0.1818 | 1017 | c.234 others(1032): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1010): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0140 | 1 | 308 | 0.0033 | 1017 | c.371 others(1034): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1010): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0011 | a0011c0012 | a0011c0012t0001 | a0011c0012t0001g0141 | 1 | 308 | 0.0033 | 1017 | c.371 others(1034): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1010): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0013 | a0013c0014 | a0013c0014t0001 | a0013c0014t0001g0056 | 1 | 308 | 0.0033 | 1017 | c.371 others(1034): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971149 | T | TGAGGAGG others(1010): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0211 | 1 | 384 | 0.0026 | 1017 | c.157 others(1036): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STK3_chr8_98449633_98830688 | 98671102 | T | TAACACAC others(1010): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 170 | 0.0059 | 1017 | c.684 others(1036): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCCCGAC others(1010): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0190 | 1 | 258 | 0.0039 | 1017 | c.113 others(1034): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCGACAC others(1010): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0147 | 1 | 258 | 0.0039 | 1017 | c.113 others(1034): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TRAF6_chr11_36478769_36515272 | 36507363 | C | CATACGTA others(1010): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 388 | 0.0026 | 1017 | c.-23 others(1034): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1010): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1017 | c.*24 others(1028): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1010): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1017 | c.*24 others(1028): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844254 | A | AGGGAGGA others(1010): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0001 | 1 | 341 | 0.0029 | 1017 | c.*23 others(1026): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 112 | chrX | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1011): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 318 | 0.0031 | 1018 | c.285 others(1037): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1011): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0265 | 1 | 318 | 0.0031 | 1018 | c.285 others(1037): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1011): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02027.hp1 others(6): Show |
a0001 | a0001c0009a0001c0015a0001c0022 | a0001c0009t0001a0001c0009t0002a0001c0009t0022others(2): Show | a0001c0009t0001g0043a0001c0009t0001g0266a0001c0009t0002g0054others(6): Show | 9 | 290 | 0.0310 | 1018 | c.166 others(1037): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(1011): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 292 | 0.0034 | 1018 | c.*21 others(1033): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1011): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0072 | a0072c0123 | a0072c0123t0006 | a0072c0123t0006g0059 | 1 | 338 | 0.0030 | 1018 | c.300 others(1035): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1011): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(47): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0087a0001c0091others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0052a0001c0001t0001g0079a0001c0001t0001g0198others(46): Show | 50 | 338 | 0.1479 | 1018 | c.300 others(1035): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185961 | T | TGCGTAGG others(1011): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18943.hp2 NA18944.hp2 others(5): Show |
a0001a0002a0048 | a0001c0001a0002c0057a0048c0093 | a0001c0001t0001a0001c0001t0002a0002c0057t0002others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(5): Show | 8 | 338 | 0.0237 | 1018 | c.300 others(1035): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1011): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0073 | a0009c0073t0001 | a0009c0073t0001g0197 | 1 | 284 | 0.0035 | 1018 | c.411 others(1035): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GAAGGGGG others(1011): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0122 | 1 | 344 | 0.0029 | 1018 | c.85- others(1035): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478083 | G | GGAAAAGA others(1011): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0084 | 1 | 88 | 0.0114 | 1018 | c.158 others(1035): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378347 | T | TGGTGTCA others(1011): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0138 | 2 | 384 | 0.0052 | 1018 | c.215 others(1035): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1011): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0012 | a0012c0027 | a0012c0027t0002 | a0012c0027t0002g0244 | 1 | 292 | 0.0034 | 1018 | c.228 others(1035): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1011): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0014 | a0004c0014t0006 | a0004c0014t0006g0063 | 1 | 369 | 0.0027 | 1018 | c.-49 others(1029): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1011): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01361.hp2 HG02015.hp2 others(11): Show |
a0002a0015 | a0002c0003a0015c0013 | a0002c0003t0001a0015c0013t0008 | a0002c0003t0001g0017a0002c0003t0001g0365a0002c0003t0001g0366others(10): Show | 14 | 408 | 0.0343 | 1018 | c.-14 others(1037): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1011): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 408 | 0.0025 | 1018 | c.-14 others(1037): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |