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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
H6PD_chr1_9229774_9276337 | 9260216 | GTGTTGCT others(65): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 NA20129.hp1 |
a0006 | a0006c0016 | a0006c0016t0030a0006c0016t0083 | a0006c0016t0030g0036 a0006c0016t0083g0163 |
3 | 404 | 0.0074 | -72 | c.746 others(89): Show |
H6PD | ENSG00000049239.13 | transcript | ENST00000377403.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239102025 | CGGGTCCA others(65): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0057 a0001c0001t0001g0121 a0001c0001t0001g0138 others(47): Show |
50 | 242 | 0.2066 | -72 | c.223 others(89): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 16/26 | chr2 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239348120 | GTGACCAC others(65): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG02717.hp1 |
a0001 | a0001c0016a0001c0027 | a0001c0016t0003a0001c0027t0009 | a0001c0016t0003g0029 a0001c0027t0009g0148 |
2 | 242 | 0.0083 | -72 | c.22+ others(87): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(65): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02056.hp2 HG02071.hp2 others(11): Show |
a0001a0002a0011 | a0001c0001a0002c0004a0011c0028 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0156 a0001c0001t0003g0030 a0001c0001t0003g0058 others(11): Show |
14 | 270 | 0.0519 | -72 | c.178 others(89): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682254 | TGTGTGTG others(65): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0004others(3): Show | a0001c0001t0003g0148 a0002c0002t0002g0289 a0002c0002t0002g0290 others(52): Show |
55 | 392 | 0.1403 | -72 | c.148 others(89): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210465849 | TATTGCAA others(65): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01258.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0155 others(12): Show |
15 | 268 | 0.0560 | -72 | c.100 others(91): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656820 | AAAGAAAG others(65): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01256.hp2 others(39): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0001c0017others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(5): Show | a0001c0002t0002g0005 a0001c0002t0002g0081 a0001c0002t0002g0120 others(38): Show |
42 | 374 | 0.1123 | -72 | c.903 others(87): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35383451 | GCAGTGCC others(65): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 384 | 0.0026 | -72 | c.144 others(87): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HNRNPCL2_chr1_13110488_13121854 | 13119117 | CATCTAAA others(65): Show |
C | upstream_gene_variant | MODIFIER | HG02735.hp2 | a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0024 | 1 | 425 | 0.0024 | -72 | c.-25 others(83): Show |
HNRNPCL2 | ENSG00000275774.3 | transcript | ENST00000621994.3 | protein_coding | 2264 | chr1 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213343 | GGGGGGAA others(65): Show |
G | downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | -72 | c.*25 others(83): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1616 | chr20 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25873306 | CCATCCAT others(65): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01168.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0004g0096 others(2): Show |
5 | 164 | 0.0305 | -72 | c.734 others(93): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87378823 | TATATATA others(65): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 a0001c0002t0002g0021 |
2 | 390 | 0.0051 | -72 | c.318 others(89): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
IER3_chr6_30738199_30749547 | 30745923 | CACTTGAG others(65): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 449 | 0.0134 | -72 | c.-14 others(83): Show |
IER3 | ENSG00000137331.12 | transcript | ENST00000259874.6 | protein_coding | 1377 | chr6 | TogoVar | |||||||
IGBP1C_chr17_58655424_58697045 | 58658892 | GGGATCAA others(65): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 368 | 0.0027 | -72 | c.*16 others(83): Show |
IGBP1C | ENSG00000266826.3 | transcript | ENST00000583666.3 | protein_coding | 1531 | chr17 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51311109 | GGGGCCTG others(65): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(116): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0003 others(101): Show |
119 | 418 | 0.2847 | -72 | c.-73 others(81): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 534 | chr19 | TogoVar | |||||||
IL11_chr19_55359382_55375463 | 55361868 | ACCCTCAG others(65): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 352 | 0.0057 | -72 | c.*40 others(83): Show |
IL11 | ENSG00000095752.7 | transcript | ENST00000264563.7 | protein_coding | 2513 | chr19 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1365736 | GGGGTGAG others(65): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 115 | 0.0087 | -72 | c.874 others(87): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366278 | AGCCGGGT others(65): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 115 | 0.0087 | -72 | c.874 others(89): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366897 | AGCCGGGT others(65): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0011 | a0011c0014 | a0011c0014t0004 | a0011c0014t0004g0044 | 1 | 115 | 0.0087 | -72 | c.874 others(89): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367512 | CGGGTGCG others(65): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 115 | 0.0087 | -72 | c.874 others(89): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34683427 | TACATATA others(65): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0308 a0001c0002t0009g0309 a0001c0002t0009g0311 |
3 | 316 | 0.0095 | -72 | c.158 others(91): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111539168 | GAAGGAAG others(65): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01074.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 others(9): Show |
12 | 84 | 0.1429 | -72 | c.-2- others(89): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111539172 | GAAGGAAG others(65): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 84 | 0.0119 | -72 | c.-2- others(89): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132634313 | GGAGAGGC others(65): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 204 | 0.0049 | -72 | c.118 others(91): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSIG2_chr2_118083471_118115997 | 118092889 | CGAGGAGA others(65): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0032 a0001c0002t0004g0257 a0001c0002t0004g0258 others(2): Show |
7 | 440 | 0.0159 | -72 | c.-13 others(91): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197904023 | CATATATA others(65): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02818.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0125 a0001c0004t0001g0126 a0001c0004t0001g0130 |
3 | 280 | 0.0107 | -72 | c.963 others(89): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ISG20_chr15_88634016_88661483 | 88652409 | CCCCCTCC others(65): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 436 | 0.0023 | -72 | c.429 others(87): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52910956 | ATACACTA others(65): Show |
A | intron_variant | MODIFIER | NA18970.hp2 NA18982.hp2 NA18988.hp1 others(1): Show |
a0003 | a0003c0005a0003c0008 | a0003c0005t0003a0003c0005t0081a0003c0008t0003others(1): Show | a0003c0005t0003g0241 a0003c0005t0081g0146 a0003c0008t0003g0216 others(1): Show |
4 | 322 | 0.0124 | -72 | c.185 others(89): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334657 | CTTCCTTC others(65): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 a0001c0001t0004g0115 |
2 | 244 | 0.0082 | -72 | c.*29 others(83): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1781 | chr16 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629189 | ATGTGTCC others(65): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0015 a0002c0004t0001g0016 |
2 | 342 | 0.0059 | -72 | c.652 others(89): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629230 | CCCATGTT others(65): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03486.hp1 |
a0000a0001a0020 | a0000c0056a0001c0054a0020c0052 | a0000c0056t0039a0001c0054t0001a0020c0052t0062 | a0000c0056t0039g0256 a0001c0054t0001g0009 a0020c0052t0062g0014 |
3 | 342 | 0.0088 | -72 | c.652 others(89): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629248 | TCCATGTT others(65): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01346.hp2 others(42): Show |
a0000a0001a0002others(7): Show | a0000c0034a0000c0038a0000c0042others(14): Show | a0000c0034t0004a0000c0038t0004a0000c0042t0033others(26): Show | a0000c0034t0004g0313 a0000c0038t0004g0276 a0000c0042t0033g0275 others(42): Show |
45 | 342 | 0.1316 | -72 | c.652 others(89): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629266 | TCCATGTT others(65): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA18944.hp1 NA18947.hp2 others(4): Show |
a0000a0001a0002others(2): Show | a0000c0011a0001c0001a0002c0004others(2): Show | a0000c0011t0007a0001c0001t0001a0001c0001t0049others(3): Show | a0000c0011t0007g0137 a0001c0001t0001g0162 a0001c0001t0001g0167 others(4): Show |
7 | 342 | 0.0205 | -72 | c.652 others(89): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251385 | GTATATAT others(65): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 224 | 0.0045 | -72 | c.312 others(89): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87693663 | CGAGACTC others(65): Show |
C | intron_variant | MODIFIER | NA18955.hp1 NA18967.hp2 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0284 a0001c0001t0001g0299 a0001c0001t0001g0300 others(1): Show |
4 | 380 | 0.0105 | -72 | c.216 others(91): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528724 | AAAGAAAG others(65): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0039 | 1 | 80 | 0.0125 | -72 | c.61+ others(91): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528732 | AAAGAAAG others(65): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | -72 | c.61+ others(91): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ3_chr2_154693695_154863354 | 154835444 | AATATGAA others(65): Show |
A | intron_variant | MODIFIER | HG02071.hp1 NA18612.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0040 | a0001c0001t0016g0185 a0001c0001t0016g0202 a0001c0001t0016g0270 others(1): Show |
4 | 284 | 0.0141 | -72 | c.920 others(91): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2570167 | GGTTCCTG others(65): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 208 | 0.0048 | -72 | c.478 others(87): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2570239 | AGTTCCTG others(65): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0055 a0001c0001t0007g0159 a0001c0001t0009g0026 |
3 | 208 | 0.0144 | -72 | c.478 others(87): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63432477 | TCCACCCT others(65): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 |
a0002 | a0002c0001 | a0002c0001t0056a0002c0001t0060 | a0002c0001t0056g0078 a0002c0001t0060g0097 |
2 | 330 | 0.0061 | -72 | c.111 others(91): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941398 | TCCTCCTT others(65): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0013 | a0001c0001t0029g0046 a0001c0002t0013g0042 a0001c0002t0013g0043 |
3 | 80 | 0.0375 | -72 | c.399 others(91): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KLHDC7B_chr22_50540899_50556023 | 50547870 | CCATCCCC others(65): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(264): Show |
a0001a0004a0005others(17): Show | a0001c0001a0001c0005a0001c0009others(35): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(43): Show | a0001c0001t0001g0000 a0001c0001t0017g0000 a0001c0001t0019g0000 others(43): Show |
267 | 432 | 0.6181 | -72 | c.168 others(81): Show |
p.Leu others(13): Show |
KLHDC7B | ENSG00000130487.9 | transcript | ENST00000648057.3 | protein_coding | 1/1 | 2033/5125 | 1688/3708 | 563/1235 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
KLHL18_chr3_47277944_47351816 | 47316531 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0075 | 1 | 338 | 0.0030 | -72 | c.130 others(89): Show |
KLHL18 | ENSG00000114648.12 | transcript | ENST00000232766.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHL6_chr3_183482551_183560706 | 183534073 | CCTTTAAA others(65): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0021 | 1 | 298 | 0.0034 | -72 | c.294 others(89): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
KLK4_chr19_50901351_50916395 | 50913628 | CTGTCTGT others(65): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 414 | 0.0024 | -72 | c.-23 others(83): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2234 | chr19 | TogoVar | |||||||
KLK7_chr19_50971468_50988917 | 50982495 | ACTCAGAC others(65): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 384 | 0.0026 | -72 | c.-58 others(86): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
KLK7_chr19_50971468_50988917 | 50982962 | GCTCCTCC others(65): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 384 | 0.0026 | -72 | c.-58 others(87): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
KLK7_chr19_50971468_50988917 | 50983108 | CTCCTCCT others(65): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0006a0001c0006t0002 | a0001c0002t0006g0042 a0001c0006t0002g0021 |
3 | 384 | 0.0078 | -72 | c.-59 others(87): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
KLK7_chr19_50971468_50988917 | 50983195 | GCCCAGGA others(65): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0002a0001c0002t0001a0001c0007t0001 | a0001c0001t0002g0093 a0001c0002t0001g0129 a0001c0007t0001g0130 |
3 | 384 | 0.0078 | -72 | c.-59 others(87): Show |
KLK7 | ENSG00000169035.12 | transcript | ENST00000595820.6 | protein_coding | 1/5 | chr19 | TogoVar |