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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1L_chr16_27782528_28068714 | 27888477 | TCTTTCCT others(67): Show |
T | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0073 | 1 | 240 | 0.0042 | -74 | c.398 others(91): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696962 | GTATATAT others(67): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0097 a0001c0003t0001g0018 |
2 | 236 | 0.0085 | -74 | c.-58 others(83): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 364 | chr12 | TogoVar | |||||||
HAUS1_chr18_46099385_46133333 | 46112410 | ATATATTC others(67): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0166 |
2 | 372 | 0.0054 | -74 | c.206 others(91): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044392 | GGAAGGAA others(67): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0317 | 1 | 352 | 0.0028 | -74 | c.782 others(91): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372540 | CATATAAA others(67): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0003g0103 others(4): Show |
7 | 226 | 0.0310 | -74 | c.123 others(95): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HDAC4_chr2_239043168_239406020 | 239346021 | TCCTAACA others(67): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02970.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0068 a0001c0003t0004g0017 |
2 | 242 | 0.0083 | -74 | c.22+ others(89): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60042366 | TGGCTGTG others(67): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025 | a0001c0001t0015g0015 a0001c0001t0015g0109 a0001c0001t0015g0111 others(2): Show |
6 | 250 | 0.0240 | -74 | c.*11 others(85): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 1123 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042491 | TGTCAGCA others(67): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01516.hp2 others(14): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0008a0002c0002t0009a0002c0002t0031others(4): Show | a0002c0002t0008g0021 a0002c0002t0008g0023 a0002c0002t0008g0203 others(11): Show |
17 | 250 | 0.0680 | -74 | c.*99 others(84): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 998 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042625 | CGGCTGTG others(67): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG02630.hp2 |
a0003 | a0003c0003 | a0003c0003t0030 | a0003c0003t0030g0174 a0003c0003t0030g0179 |
2 | 250 | 0.0080 | -74 | c.*86 others(83): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 864 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042676 | TGTCAGCA others(67): Show |
T | 3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0014 | a0001c0014t0085 | a0001c0014t0085g0029 | 1 | 250 | 0.0040 | -74 | c.*81 others(83): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 813 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042919 | CGGCTGTG others(67): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0150 | 1 | 250 | 0.0040 | -74 | c.*57 others(83): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 570 | chr17 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682214 | TGTGTGTG others(67): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0322 | 1 | 392 | 0.0026 | -74 | c.148 others(91): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682252 | TGTGTGTG others(67): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01261.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0105 a0002c0002t0002g0298 a0002c0002t0002g0308 others(6): Show |
9 | 392 | 0.0230 | -74 | c.148 others(91): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HIVEP2_chr6_142746469_142950176 | 142862421 | CATGTATC others(67): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG01928.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0011 a0001c0001t0001g0040 a0001c0009t0002g0077 |
3 | 288 | 0.0104 | -74 | c.-64 others(95): Show |
HIVEP2 | ENSG00000010818.11 | transcript | ENST00000367603.8 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
HNF1A_chr12_120973543_121007512 | 120994742 | TCCACTAC others(67): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0181 | 1 | 410 | 0.0024 | -74 | c.955 others(89): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48834493 | TCTGGACT others(67): Show |
T | intron_variant | MODIFIER | NA18941.hp2 NA19009.hp1 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 |
3 | 394 | 0.0076 | -74 | c.128 others(89): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834509 | TGAGGAAG others(67): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01975.hp1 HG03688.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 others(7): Show |
10 | 394 | 0.0254 | -74 | c.128 others(89): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48834704 | AGGGCTGG others(67): Show |
A | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 394 | 0.0025 | -74 | c.128 others(89): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48835228 | AGCCTGGA others(67): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 others(2): Show |
5 | 394 | 0.0127 | -74 | c.127 others(89): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48835265 | GGCCTGGA others(67): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00639.hp1 others(34): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0294 a0002c0002t0001g0295 others(33): Show |
37 | 394 | 0.0939 | -74 | c.127 others(89): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
IDUA_chr4_982044_1009564 | 1007606 | TCCTCCAG others(67): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02572.hp1 others(6): Show |
a0004 | a0004c0008a0004c0014 | a0004c0008t0001a0004c0014t0001 | a0004c0008t0001g0168 a0004c0008t0001g0169 a0004c0008t0001g0192 others(4): Show |
9 | 426 | 0.0211 | -74 | c.*32 others(85): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 3043 | chr4 | TogoVar | |||||||
IDUA_chr4_982044_1009564 | 1007809 | GTCCTCTA others(67): Show |
G | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0182 | 1 | 426 | 0.0024 | -74 | c.*34 others(85): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 3246 | chr4 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(67): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02258.hp1 others(6): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0004a0003c0007others(3): Show | a0001c0002t0071a0001c0004t0034a0001c0004t0044others(4): Show | a0001c0002t0071g0194 a0001c0004t0034g0126 a0001c0004t0044g0153 others(6): Show |
9 | 310 | 0.0290 | -74 | c.684 others(93): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51310494 | TGGGTCTG others(67): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 418 | 0.0048 | -74 | c.-13 others(85): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1149 | chr19 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51310790 | TGGGTCTG others(67): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02895.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0001 | a0001c0001t0018g0309 a0001c0001t0018g0310 a0001c0003t0001g0052 |
4 | 418 | 0.0096 | -74 | c.-10 others(84): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 853 | chr19 | TogoVar | |||||||
IL33_chr9_6210807_6262983 | 6218751 | TATATATA others(67): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0002c0003t0006 | a0001c0002t0006g0320 a0002c0003t0006g0046 |
2 | 362 | 0.0055 | -74 | c.-12 others(91): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34683425 | TATACATA others(67): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0310 | 1 | 316 | 0.0032 | -74 | c.158 others(93): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357818 | AAATATAT others(67): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0191 a0001c0001t0006g0162 |
2 | 264 | 0.0076 | -74 | c.-12 others(85): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1016 | chr6 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62598418 | TTCTTTCT others(67): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 330 | 0.0030 | -74 | c.267 others(93): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197904023 | CATATATA others(67): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp2 HG02027.hp1 others(15): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0033 others(15): Show |
18 | 280 | 0.0643 | -74 | c.963 others(91): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31334547 | CTTCCTTC others(67): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0016 | 1 | 244 | 0.0041 | -74 | c.*28 others(85): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737660 | CTATATTA others(67): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01261.hp1 HG01358.hp1 others(40): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(40): Show |
43 | 380 | 0.1132 | -74 | c.195 others(91): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566792 | AAGAAGAA others(67): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02723.hp2 |
a0003 | a0003c0055a0003c0081 | a0003c0055t0041a0003c0081t0001 | a0003c0055t0041g0005 a0003c0081t0001g0288 |
2 | 342 | 0.0059 | -74 | c.215 others(91): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251413 | GTATATAT others(67): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0069 others(3): Show |
6 | 224 | 0.0268 | -74 | c.312 others(91): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251509 | GTATATAT others(67): Show |
G | intron_variant | MODIFIER | NA19002.hp1 NA19064.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0035 a0003c0002t0001g0188 |
2 | 224 | 0.0089 | -74 | c.312 others(91): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132164761 | TGCTTGTT others(67): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0019 | a0001c0019t0015 | a0001c0019t0015g0085 | 1 | 158 | 0.0063 | -74 | c.249 others(90): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 21/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132180666 | CGTGTGTG others(67): Show |
C | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0022 a0003c0021t0001g0023 |
2 | 158 | 0.0127 | -74 | c.*11 others(95): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNN4_chr19_43761533_43785973 | 43780500 | TCCCTCCT others(67): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02559.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0070 others(10): Show |
15 | 440 | 0.0341 | -74 | c.159 others(89): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
KDELR1_chr19_48377575_48396551 | 48389838 | CCCAGGAG others(67): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03239.hp2 HG03491.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0001g0115 a0001c0001t0001g0116 others(2): Show |
7 | 432 | 0.0162 | -74 | c.193 others(89): Show |
KDELR1 | ENSG00000105438.9 | transcript | ENST00000330720.7 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240780926 | CCACACAC others(67): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02698.hp2 HG02965.hp1 others(1): Show |
a0002 | a0002c0014 | a0002c0014t0002a0002c0014t0004a0002c0014t0024 | a0002c0014t0002g0117 a0002c0014t0004g0060 a0002c0014t0024g0043 others(1): Show |
4 | 330 | 0.0121 | -74 | c.882 others(91): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245618580 | TTGTCCAA others(67): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 NA19240.hp1 |
a0001a0002a0018 | a0001c0002a0002c0003a0018c0043 | a0001c0002t0001a0002c0003t0022a0018c0043t0039 | a0001c0002t0001g0125 a0002c0003t0022g0006 a0018c0043t0039g0133 |
3 | 160 | 0.0188 | -74 | c.209 others(93): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF4A_chrX_70285104_70425886 | 70349282 | TGGGTAGA others(67): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 |
2 | 259 | 0.0077 | -74 | c.143 others(93): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KIT_chr4_54652957_54745715 | 54711649 | CGGTGGCT others(67): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0040 others(69): Show |
75 | 268 | 0.2799 | -74 | c.123 others(93): Show |
KIT | ENSG00000157404.17 | transcript | ENST00000288135.6 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
KLF6_chr10_3770996_3790209 | 3774108 | GCATCTAA others(67): Show |
G | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0116 | 1 | 458 | 0.0022 | -74 | c.*53 others(85): Show |
KLF6 | ENSG00000067082.15 | transcript | ENST00000497571.6 | protein_coding | 1887 | chr10 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87704356 | AGGGAAGG others(67): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(144): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0007a0001c0018others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(25): Show | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0031 others(144): Show |
147 | 380 | 0.3868 | -74 | c.*36 others(85): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 3455 | chr16 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133155641 | ATTTGAAA others(67): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0014 | 1 | 332 | 0.0030 | -74 | c.-48 others(85): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 4577 | chr10 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133155658 | AACTGTGG others(67): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01123.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005others(1): Show | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0004t0001g0101 a0002c0002t0001g0088 a0002c0002t0002g0089 others(4): Show |
7 | 332 | 0.0211 | -74 | c.-48 others(85): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 4560 | chr10 | TogoVar | |||||||
KNDC1_chr10_133155219_133231412 | 133156343 | AATTGGAA others(67): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02922.hp1 HG03098.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0035a0001c0038a0002c0006others(3): Show | a0001c0035t0005a0001c0038t0005a0002c0006t0010others(3): Show | a0001c0035t0005g0263 a0001c0038t0005g0270 a0002c0006t0010g0315 others(3): Show |
6 | 332 | 0.0181 | -74 | c.-41 others(85): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 3875 | chr10 | TogoVar | |||||||
KRR1_chr12_75485863_75516609 | 75516512 | TGTAAATC others(67): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0028 | 1 | 368 | 0.0027 | -74 | c.-49 others(85): Show |
KRR1 | ENSG00000111615.14 | transcript | ENST00000229214.9 | protein_coding | 4904 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62313922 | GAGAGACG others(67): Show |
G | intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 | 1 | 186 | 0.0054 | -74 | c.850 others(91): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 62/79 | chr20 | TogoVar |