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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRR2_chr6_89249464_89320299 | 89292361 | TATATATA others(92): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0215 | 1 | 366 | 0.0027 | -99 | c.220 others(116): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805903 | TCCCCCCT others(92): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01346.hp2 HG02004.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0187a0001c0001t0001g0215a0001c0001t0002g0001others(4): Show | 7 | 314 | 0.0223 | -99 | c.*17 others(110): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1617 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805941 | CTCCCCCC others(92): Show |
C | downstream_gene_variant | MODIFIER | HG03139.hp1 HG04228.hp2 NA18970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0250a0001c0001t0002g0196a0002c0002t0002g0004 | 3 | 314 | 0.0096 | -99 | c.*17 others(110): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1655 | chr2 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71679983 | CCCTCCCT others(92): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(21): Show | 24 | 76 | 0.3158 | -99 | c.150 others(118): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71680032 | TCTCCCTT others(92): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0052 | 1 | 76 | 0.0132 | -99 | c.150 others(118): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132232572 | AGAGGAGA others(92): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 183 | 0.0055 | -99 | c.107 others(120): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132235019 | AGAGGAGA others(92): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 183 | 0.0055 | -99 | c.107 others(120): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GET4_chr7_871554_901436 | 893531 | AGGCGTGG others(92): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0097 | 1 | 384 | 0.0026 | -99 | c.747 others(113): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GGT5_chr22_24214660_24250082 | 24238796 | TATATATA others(92): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01891.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0015a0002c0002t0001g0016a0002c0002t0001g0199others(3): Show | 8 | 420 | 0.0191 | -99 | c.174 others(116): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58396621 | CCCCCACC others(92): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 434 | 0.0023 | -99 | c.186 others(116): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GJD2_chr15_34746032_34759998 | 34759285 | GGGATTAA others(92): Show |
G | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -99 | c.-48 others(110): Show |
GJD2 | ENSG00000159248.5 | transcript | ENST00000290374.5 | protein_coding | 4288 | chr15 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11826269 | AGAGGAGG others(92): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(138): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(110): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0161others(138): Show | 141 | 248 | 0.5686 | -99 | c.722 others(116): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11826269 | AGAGGAGG others(92): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(159): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(107): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0080others(159): Show | 162 | 284 | 0.5704 | -99 | c.491 others(116): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GOLGA3_chr12_132763914_132833869 | 132817191 | ACCTCCAC others(92): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 308 | 0.0033 | -99 | c.134 others(114): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817248 | CCCCTCCA others(92): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(134): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0009a0001c0023others(16): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(54): Show | a0001c0003t0001g0151a0001c0003t0001g0167a0001c0003t0002g0196others(134): Show | 137 | 308 | 0.4448 | -99 | c.134 others(114): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132817578 | GCCCTCCA others(92): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0018a0003c0004others(3): Show | a0001c0001t0003a0001c0018t0019a0003c0004t0001others(4): Show | a0001c0001t0003g0116a0001c0001t0003g0122a0001c0018t0019g0132others(7): Show | 10 | 308 | 0.0325 | -99 | c.134 others(114): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA6L24_chr15_28342851_28363084 | 28351165 | TCTCCTCC others(92): Show |
T | conservative_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 NA19001.hp2 |
a0029a0030a0031 | a0029c0036a0030c0038a0031c0037 | a0029c0036t0007a0030c0038t0007a0031c0037t0009 | a0029c0036t0007g0064a0030c0038t0007g0066a0031c0037t0009g0065 | 3 | 200 | 0.0150 | -99 | c.148 others(108): Show |
p.Glu others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1645/4304 | 1486/2499 | 496/832 | chr15 | TogoVar | ||
GPALPP1_chr13_44984538_45035305 | 45024163 | GTGTGTGT others(92): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 348 | 0.0029 | -99 | c.805 others(116): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPBP1_chr5_57169059_57269673 | 57221233 | TTTACACA others(92): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG01952.hp2 HG02074.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0010 | a0001c0001t0001a0001c0001t0010a0002c0003t0001others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(15): Show | 18 | 290 | 0.0621 | -99 | c.63+ others(114): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPM6A_chr4_175627937_175817264 | 175637650 | AAATATAA others(92): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01515.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042a0001c0001t0005g0043a0001c0001t0005g0090others(4): Show | 7 | 270 | 0.0259 | -99 | c.684 others(116): Show |
GPM6A | ENSG00000150625.17 | transcript | ENST00000393658.7 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
GPR146_chr7_1039546_1064261 | 1061775 | AACTCCCC others(92): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0077a0001c0001t0001g0148a0001c0001t0001g0149others(7): Show | 11 | 434 | 0.0254 | -99 | c.*32 others(110): Show |
GPR146 | ENSG00000164849.10 | transcript | ENST00000444847.2 | protein_coding | 2515 | chr7 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113330745 | TGGGAGCC others(92): Show |
T | intron_variant | MODIFIER | HG02809.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0264a0001c0001t0002g0028 | 2 | 288 | 0.0069 | -99 | c.563 others(116): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654091 | AGAAAAGA others(92): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00733.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0007 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(4): Show | 16 | 364 | 0.0440 | -99 | c.-22 others(110): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2007 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654118 | AAAGAAAG others(92): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 364 | 0.0028 | -99 | c.-22 others(110): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1980 | chr1 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015381 | TCTGAGCC others(92): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0181 | 1 | 370 | 0.0027 | -99 | c.160 others(116): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
H1-7_chr12_48323980_48335279 | 48332597 | CCCCCCCC others(92): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 424 | 0.0071 | -99 | c.*25 others(110): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2319 | chr12 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602294 | TCTCTCCT others(92): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0042 | a0001c0042t0004 | a0001c0042t0004g0015 | 1 | 408 | 0.0025 | -99 | c.633 others(116): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210585098 | ATATAGAG others(92): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02717.hp1 |
a0003a0004 | a0003c0007a0004c0012 | a0003c0007t0002a0003c0007t0004a0004c0012t0002 | a0003c0007t0002g0169a0003c0007t0004g0133a0004c0012t0002g0166 | 3 | 268 | 0.0112 | -99 | c.104 others(118): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962209 | TACACATA others(92): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0002c0002t0004a0003c0003t0003 | a0001c0001t0003g0028a0001c0001t0003g0205a0002c0002t0004g0027others(2): Show | 6 | 268 | 0.0224 | -99 | c.202 others(116): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
IDI2_chr10_1013910_1030859 | 1015381 | TCTGAGCC others(92): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0013 | a0003c0013t0012 | a0003c0013t0012g0069 | 1 | 434 | 0.0023 | -99 | c.*40 others(110): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3528 | chr10 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366094 | GGTGCGCG others(92): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 115 | 0.0087 | -99 | c.874 others(114): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1367512 | CGGGTGCG others(92): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | -99 | c.874 others(116): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132767250 | GAGCTTGG others(92): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0007a0001c0005t0001a0001c0005t0018others(3): Show | a0001c0001t0007g0131a0001c0001t0007g0137a0001c0001t0007g0138others(6): Show | 9 | 204 | 0.0441 | -99 | c.977 others(116): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 133630 | CAGGTTAG others(92): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18947.hp2 |
a0001a0011 | a0001c0003a0011c0058 | a0001c0003t0002a0011c0058t0027 | a0001c0003t0002g0219a0011c0058t0027g0272 | 2 | 282 | 0.0071 | -99 | c.904 others(116): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRGQ_chr19_43579367_43601134 | 43592517 | CCAGCAGC others(92): Show |
C | conservative_inframe_deletion | MODERATE | NA18967.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0063 | 1 | 426 | 0.0024 | -99 | c.128 others(108): Show |
p.Pro others(13): Show |
IRGQ | ENSG00000167378.10 | transcript | ENST00000422989.6 | protein_coding | 3/3 | 1535/9686 | 1282/1872 | 428/623 | chr19 | TogoVar | ||
JPH3_chr16_87597508_87703156 | 87681346 | TCCGGGAG others(92): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 | 1 | 380 | 0.0026 | -99 | c.116 others(118): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883296 | AAAAGAAA others(92): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0006a0001c0001t0003g0050a0001c0001t0003g0146others(2): Show | 5 | 146 | 0.0343 | -99 | c.227 others(118): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990411 | CGGGCCTT others(92): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 389 | 0.0026 | -99 | c.-90 others(118): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990939 | GGGGCCTT others(92): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03486.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013 | a0001c0001t0001g0163a0001c0001t0006g0121a0001c0001t0013g0149 | 3 | 389 | 0.0077 | -99 | c.-90 others(118): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990965 | GTGCTGCG others(92): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0175 | 1 | 389 | 0.0026 | -99 | c.-90 others(118): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNJ6_chr21_37602373_37921457 | 37756936 | CAGATTCC others(92): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01433.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0027a0001c0001t0101a0001c0001t0166others(6): Show | a0001c0001t0027g0048a0001c0001t0101g0063a0001c0001t0166g0146others(6): Show | 9 | 198 | 0.0455 | -99 | c.26- others(116): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144466988 | CTATATAT others(92): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0038a0001c0001t0001g0081a0001c0001t0001g0083others(4): Show | 7 | 156 | 0.0449 | -99 | c.833 others(116): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
KDM6A_chrX_44868188_45117779 | 45040727 | CCCCCCCA others(92): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03486.hp1 NA20300.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0002a0003c0005t0001g0003a0003c0005t0001g0004 | 3 | 199 | 0.0151 | -99 | c.654 others(116): Show |
KDM6A | ENSG00000147050.18 | transcript | ENST00000611820.5 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
KIF15_chr3_44756794_44858256 | 44820956 | CGGGGTGG others(92): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0164 | 1 | 232 | 0.0043 | -99 | c.255 others(118): Show |
KIF15 | ENSG00000163808.17 | transcript | ENST00000326047.9 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409924 | GTCCGGGA others(92): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(87): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0014a0001c0001t0002g0038others(23): Show | 90 | 370 | 0.2432 | -99 | c.-37 others(110): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3590 | chr12 | TogoVar | ||||||
LAMC1_chr1_183018420_183150592 | 183149943 | CACCCCTC others(92): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG03195.hp2 others(2): Show |
a0001a0002 | a0001c0016a0002c0001 | a0001c0016t0001a0002c0001t0001 | a0001c0016t0001g0094a0001c0016t0001g0096a0002c0001t0001g0169others(2): Show | 5 | 308 | 0.0162 | -99 | c.*71 others(110): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4352 | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507135 | GGGGTTAG others(92): Show |
G | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 260 | 0.0039 | -99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507156 | TGGGAGGG others(92): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 260 | 0.0039 | -99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507300 | AGGTGTGG others(92): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 260 | 0.0039 | -99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124507586 | GAGTATTT others(92): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03927.hp1 NA18947.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0070a0001c0001t0003g0035a0001c0001t0012g0027others(2): Show | 5 | 260 | 0.0192 | -99 | c.624 others(116): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |