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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A3_chr20_62812050_62846159 | 62830651 | C | CACCCCCC others(214): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0021 | a0021c0060 | a0021c0060t0002 | a0021c0060t0002g0139 | 1 | 412 | 0.0024 | 221 | c.128 others(236): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COPG1_chr3_129244606_129282773 | 129274104 | A | ATGACCCC others(214): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 326 | 0.0031 | 221 | c.225 others(238): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COPS4_chr4_83030183_83080818 | 83034520 | A | ATTTTTTT others(214): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0218 |
2 | 372 | 0.0054 | 221 | c.-70 others(230): Show |
COPS4 | ENSG00000138663.9 | transcript | ENST00000264389.7 | protein_coding | 662 | chr4 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588004 | C | CGTGTCAC others(214): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 348 | 0.0029 | 221 | c.928 others(236): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(214): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0347 | 1 | 370 | 0.0027 | 221 | c.*56 others(232): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CYTH3_chr7_6156779_6277624 | 6259823 | T | TATAATAG others(214): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0001 | 1 | 348 | 0.0029 | 221 | c.34+ others(238): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
DBNDD1_chr16_89999871_90024456 | 90004417 | C | CACGTGGG others(214): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 412 | 0.0024 | 221 | c.*19 others(232): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 453 | chr16 | TogoVar | |||||||
DFFB_chr1_3852476_3890429 | 3868659 | G | GCCACACC others(214): Show |
intron_variant | MODIFIER | NA19240.hp1 NA20129.hp2 |
a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0263 a0002c0008t0007g0271 |
2 | 404 | 0.0050 | 221 | c.510 others(236): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593835 | C | CCCCCTCC others(214): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 284 | 0.0035 | 221 | c.101 others(240): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 429404 | C | CCCCCCCG others(214): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 88 | 0.0114 | 221 | c.395 others(238): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1255259 | T | TGCTGTGT others(214): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 40 | 0.0250 | 221 | c.74- others(236): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(214): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0033 | 1 | 256 | 0.0039 | 221 | c.323 others(240): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400719 | C | CCACCTCC others(214): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0039 | a0004c0039t0004 | a0004c0039t0004g0056 | 1 | 256 | 0.0039 | 221 | c.323 others(240): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619366 | C | CCCCCCTG others(214): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0049 | 1 | 250 | 0.0040 | 221 | c.-10 others(240): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556341 | A | ATATATAT others(214): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0131 | 1 | 316 | 0.0032 | 221 | c.355 others(240): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716276 | G | GTTGGTGT others(214): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 170 | 0.0059 | 221 | c.86- others(234): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315777 | A | ACCATCAC others(214): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 250 | 0.0040 | 221 | c.259 others(240): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316108 | C | CTCACCAC others(214): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0162 | 1 | 250 | 0.0040 | 221 | c.259 others(240): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110083967 | G | GATATAAC others(214): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0216 a0001c0001t0026g0330 |
2 | 338 | 0.0059 | 221 | c.221 others(240): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 501566 | A | ATATATAT others(214): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 272 | 0.0037 | 221 | c.238 others(240): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
F7_chr13_113100791_113125685 | 113108964 | G | GGGTGTCC others(214): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149 | 1 | 400 | 0.0025 | 221 | c.65- others(236): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FAM111B_chr11_59102237_59132412 | 59106681 | G | GCCGCCAG others(214): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0009 a0001c0002t0003g0010 |
2 | 414 | 0.0048 | 221 | c.-74 others(230): Show |
FAM111B | ENSG00000189057.11 | transcript | ENST00000343597.4 | protein_coding | 555 | chr11 | TogoVar | |||||||
FAM13A_chr4_88720960_89062185 | 89042101 | C | CAAGGTGA others(214): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0007 | 1 | 208 | 0.0048 | 221 | c.28- others(238): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9022293 | T | TATTACAT others(214): Show |
downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 258 | 0.0039 | 221 | c.*31 others(232): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1938 | chrX | TogoVar | |||||||
FKBP6_chr7_73323161_73363625 | 73327288 | C | CTAACAAG others(214): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 320 | 0.0031 | 221 | c.-11 others(232): Show |
FKBP6 | ENSG00000077800.13 | transcript | ENST00000252037.5 | protein_coding | 872 | chr7 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998809 | T | TAAATATA others(214): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 292 | 0.0034 | 221 | c.*52 others(232): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4464 | chr13 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145735 | T | TGCCCTCC others(214): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0002a0001c0004t0002 | a0001c0001t0002g0140 a0001c0002t0002g0121 a0001c0004t0002g0141 others(1): Show |
4 | 230 | 0.0174 | 221 | c.109 others(236): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88831691 | C | CGAGCACG others(214): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182 | 1 | 404 | 0.0025 | 221 | c.100 others(238): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GALNT8_chr12_4715400_4777726 | 4734671 | T | TTAAAATG others(214): Show |
intron_variant | MODIFIER | HG03579.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 a0001c0001t0002g0285 |
2 | 338 | 0.0059 | 221 | c.510 others(238): Show |
GALNT8 | ENSG00000130035.9 | transcript | ENST00000252318.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GATD1_chr11_762222_782487 | 763236 | C | CCCCCGCC others(214): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 | 1 | 430 | 0.0023 | 221 | c.*76 others(232): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3985 | chr11 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9116180 | T | TTATATAT others(214): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0290 | 1 | 404 | 0.0025 | 221 | c.384 others(238): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88687579 | A | ATATATTA others(214): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 184 | 0.0054 | 221 | c.912 others(240): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653270 | T | TCCTCCCC others(214): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 290 | 0.0035 | 221 | c.427 others(238): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323569 | T | TGTAGCCG others(214): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0011 | a0011c0031 | a0011c0031t0005 | a0011c0031t0005g0104 | 1 | 155 | 0.0065 | 221 | c.-47 others(232): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4774 | chrX | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709709 | G | GTTATATA others(214): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 256 | 0.0039 | 221 | c.183 others(240): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602072 | C | CCCTCCTG others(214): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03579.hp2 |
a0001 | a0001c0018a0001c0114 | a0001c0018t0001a0001c0114t0004 | a0001c0018t0001g0040 a0001c0114t0004g0041 |
2 | 408 | 0.0049 | 221 | c.633 others(238): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HMCES_chr3_129273870_129311186 | 129274104 | A | ATGACCCC others(214): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 340 | 0.0029 | 221 | c.-48 others(232): Show |
HMCES | ENSG00000183624.14 | transcript | ENST00000383463.9 | protein_coding | 4765 | chr3 | TogoVar | |||||||
HMGB4_chr1_33859079_33869791 | 33864929 | A | AGGAGAGG others(214): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | 221 | c.*17 others(230): Show |
HMGB4 | ENSG00000176256.11 | transcript | ENST00000681531.1 | protein_coding | 139 | chr1 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834897 | G | GGCCTGGA others(214): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18959.hp1 NA18962.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0216 others(6): Show |
12 | 394 | 0.0305 | 221 | c.128 others(236): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(214): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301 a0001c0001t0002g0302 |
2 | 314 | 0.0064 | 221 | c.661 others(238): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322332 | A | AATATATA others(214): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0031 | 1 | 323 | 0.0031 | 221 | c.-27 others(232): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2637 | chr21 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29914762 | C | CTGTTTTG others(214): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03540.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0003g0030 a0001c0001t0007g0066 |
3 | 135 | 0.0222 | 221 | c.779 others(238): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGACAGG others(214): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 204 | 0.0049 | 221 | c.978 others(238): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5E_chr9_136423619_136444845 | 136431390 | C | CCCCCCCA others(214): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 2 | 382 | 0.0052 | 221 | c.155 others(238): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 131042 | C | CTCCTCAG others(214): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0104 | 1 | 282 | 0.0036 | 221 | c.903 others(238): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(214): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 426 | 0.0024 | 221 | c.-86 others(230): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37712635 | C | CTCCTCCC others(214): Show |
intron_variant | MODIFIER | HG02897.hp2 HG03041.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0090a0001c0001t0102a0001c0001t0103others(1): Show | a0001c0001t0090g0157 a0001c0001t0102g0107 a0001c0001t0103g0049 others(1): Show |
4 | 198 | 0.0202 | 221 | c.946 others(238): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNN4_chr19_43761533_43785973 | 43780500 | T | TCCCTCCT others(214): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 440 | 0.0023 | 221 | c.159 others(236): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(214): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0163 | a0001c0001t0163g0391 | 1 | 398 | 0.0025 | 221 | c.64+ others(238): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507611 | C | CAGGATTT others(214): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 260 | 0.0039 | 221 | c.624 others(238): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |