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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNH8_chr3_19143510_19540642 | 19472195 | CGTGTGTG others(27): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 6 | 0.1667 | -34 | c.204 others(55): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170597784 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0024 | a0001c0001t0002g0056 a0001c0001t0017g0078 a0001c0001t0024g0195 |
3 | 18 | 0.1667 | -34 | c.61+ others(51): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20916985 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0005 a0001c0001t0002g0035 a0001c0001t0011g0003 others(3): Show |
6 | 11 | 0.5455 | -34 | c.62- others(51): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21714786 | ATTATTTT others(27): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0003 | a0001c0001t0004g0067 a0001c0003t0003g0029 |
2 | 67 | 0.0299 | -34 | c.61+ others(53): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ12_chr17_21371357_21424870 | 21380781 | AGCAGTGG others(27): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 97 | 0.0103 | -34 | c.-17 others(53): Show |
KCNJ12 | ENSG00000184185.10 | transcript | ENST00000583088.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KCNJ3_chr2_154693695_154863354 | 154861397 | ATATGTTT others(27): Show |
A | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0004 | 1 | 282 | 0.0035 | -34 | c.*60 others(45): Show |
KCNJ3 | ENSG00000162989.5 | transcript | ENST00000295101.3 | protein_coding | 3044 | chr2 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37655214 | TGTGTGTG others(27): Show |
T | intron_variant | MODIFIER | NA19043.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0165a0001c0001t0166 | a0001c0001t0165g0056 a0001c0001t0166g0171 |
2 | 140 | 0.0143 | -34 | c.947 others(53): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178568797 | AGATAGAT others(27): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 232 | 0.0043 | -34 | c.-68 others(53): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760092 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0076 a0001c0001t0003g0154 |
2 | 146 | 0.0137 | -34 | c.-67 others(53): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760124 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01517.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0093 a0001c0001t0002g0118 a0001c0001t0004g0136 |
3 | 188 | 0.0160 | -34 | c.-67 others(53): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178760370 | GATATATA others(27): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0040 a0001c0001t0002g0091 others(2): Show |
5 | 134 | 0.0373 | -34 | c.-67 others(53): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN2_chr5_114357070_114501496 | 114379748 | CATATTAT others(27): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01256.hp1 HG01257.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 others(6): Show |
9 | 248 | 0.0363 | -34 | c.121 others(55): Show |
KCNN2 | ENSG00000080709.17 | transcript | ENST00000673685.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2752236 | GTGATCTG others(27): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 206 | 0.0049 | -34 | c.151 others(55): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2752285 | CTGAGTGG others(27): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 206 | 0.0049 | -34 | c.151 others(55): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63455858 | CTGCTCAC others(27): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02129.hp1 others(11): Show |
a0001a0002a0004 | a0001c0004a0001c0007a0001c0020others(2): Show | a0001c0004t0004a0001c0004t0033a0001c0007t0005others(6): Show | a0001c0004t0004g0196 a0001c0004t0004g0197 a0001c0004t0004g0198 others(11): Show |
14 | 326 | 0.0429 | -34 | c.297 others(51): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63455892 | GTGCTCAC others(27): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01081.hp2 others(32): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0011others(26): Show | a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0008g0047 others(32): Show |
35 | 326 | 0.1074 | -34 | c.297 others(51): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63456068 | TCACGGGC others(27): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG01175.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011 | a0001c0002t0023a0002c0001t0001a0002c0001t0051others(1): Show | a0001c0002t0023g0209 a0002c0001t0001g0211 a0002c0001t0001g0212 others(6): Show |
10 | 326 | 0.0307 | -34 | c.297 others(51): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015084 | AAAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 445 | 0.0045 | -34 | c.-40 others(43): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 359 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015086 | AAAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01192.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 |
6 | 444 | 0.0135 | -34 | c.-40 others(43): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 357 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015088 | AAAAAAAA others(27): Show |
A | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 428 | 0.0023 | -34 | c.-40 others(43): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 355 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015090 | AAAAAATA others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 407 | 0.0025 | -34 | c.-40 others(43): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 353 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015092 | AAAATATA others(27): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 347 | 0.0029 | -34 | c.-40 others(43): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 351 | chr13 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196296315 | CATACTTT others(27): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 a0001c0001t0002g0114 |
2 | 134 | 0.0149 | -34 | c.259 others(53): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 22/27 | chr1 | TogoVar | |||||||
KCP_chr7_128871865_128915709 | 128894162 | CCACCATG others(27): Show |
C | splice_region_variant others(1): Show |
LOW | NA19030.hp2 | a0059 | a0059c0069 | a0059c0069t0002 | a0059c0069t0002g0125 | 1 | 370 | 0.0027 | -34 | c.925 others(46): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 9/39 | chr7 | TogoVar | |||||||
KCTD13_chr16_29901339_29931226 | 29918882 | ACTCCTGA others(27): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(1): Show |
4 | 356 | 0.0112 | -34 | c.414 others(51): Show |
KCTD13 | ENSG00000174943.11 | transcript | ENST00000568000.6 | protein_coding | 2/5 | chr16 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144304171 | ACTTATTT others(27): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 156 | 0.0064 | -34 | c.832 others(53): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23017175 | TTTTATAT others(27): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 218 | 0.0046 | -34 | c.-24 others(45): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2292 | chr1 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23017177 | TTATATAT others(27): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0170 a0001c0001t0002g0185 others(23): Show |
33 | 173 | 0.1908 | -34 | c.-24 others(45): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2290 | chr1 | TogoVar | |||||||
KDM1B_chr6_18150422_18228854 | 18155122 | TCCGCGCC others(27): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(171): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0150 others(171): Show |
174 | 271 | 0.6421 | -34 | c.-50 others(43): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 299 | chr6 | TogoVar | |||||||
KDM2A_chr11_67114263_67263082 | 67247037 | TTATATAT others(27): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0001t0001g0076 others(4): Show |
7 | 179 | 0.0391 | -34 | c.196 others(51): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7104966 | GTACAAAA others(27): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00621.hp1 others(23): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0003c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0075 others(23): Show |
26 | 264 | 0.0985 | -34 | c.261 others(53): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM5C_chrX_53187158_53230207 | 53208400 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 239 | 0.0042 | -34 | c.174 others(53): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 12/25 | chrX | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61848532 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0130 | 1 | 159 | 0.0063 | -34 | c.810 others(53): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
KHDRBS2_chr6_61674961_62291225 | 61955461 | TATGTGTA others(27): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG02132.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0003t0004others(2): Show | a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0015 others(11): Show |
14 | 187 | 0.0749 | -34 | c.483 others(53): Show |
KHDRBS2 | ENSG00000112232.10 | transcript | ENST00000281156.5 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
KHDRBS3_chr8_135452456_135652610 | 135599897 | ACACAGCA others(27): Show |
A | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 340 | 0.0029 | -34 | c.808 others(51): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KHDRBS3_chr8_135452456_135652610 | 135600031 | CCTCACAG others(27): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(148): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 others(147): Show |
151 | 340 | 0.4441 | -34 | c.808 others(51): Show |
KHDRBS3 | ENSG00000131773.15 | transcript | ENST00000355849.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KIAA0930_chr22_45187244_45245894 | 45229256 | ACTCACTT others(27): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00609.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(3): Show | a0001c0001t0001g0315 a0001c0001t0003g0194 a0001c0001t0003g0367 others(5): Show |
8 | 396 | 0.0202 | -34 | c.64+ others(51): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
KIAA1217_chr10_24204138_24552843 | 24538594 | AAGGAAGG others(27): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01975.hp2 HG03471.hp2 others(8): Show |
a0001a0011a0018others(1): Show | a0001c0013a0001c0014a0001c0062others(5): Show | a0001c0013t0005a0001c0014t0002a0001c0062t0005others(5): Show | a0001c0013t0005g0008 a0001c0013t0005g0057 a0001c0013t0005g0182 others(8): Show |
11 | 237 | 0.0464 | -34 | c.353 others(53): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33530426 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0071 | 1 | 202 | 0.0050 | -34 | c.239 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33614531 | GATATATA others(27): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0004 | 1 | 145 | 0.0069 | -34 | c.528 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33614558 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0208 | 1 | 219 | 0.0046 | -34 | c.528 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33641572 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02723.hp2 others(6): Show |
a0001a0009a0013others(1): Show | a0001c0004a0001c0005a0001c0011others(6): Show | a0001c0004t0007a0001c0005t0023a0001c0011t0063others(6): Show | a0001c0004t0007g0175 a0001c0005t0023g0136 a0001c0011t0063g0080 others(6): Show |
9 | 13 | 0.6923 | -34 | c.541 others(53): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KIAA1549_chr7_138826381_138986389 | 138903792 | AGTGTGTG others(27): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02257.hp2 HG02896.hp1 others(4): Show |
a0002a0005a0006others(1): Show | a0002c0002a0005c0050a0006c0008others(1): Show | a0002c0002t0014a0002c0002t0018a0005c0050t0008others(3): Show | a0002c0002t0014g0181 a0002c0002t0018g0002 a0005c0050t0008g0062 others(3): Show |
7 | 47 | 0.1489 | -34 | c.352 others(49): Show |
KIAA1549 | ENSG00000122778.10 | transcript | ENST00000422774.2 | protein_coding | 7/19 | chr7 | TogoVar | |||||||
KIAA1671_chr22_24947716_25202448 | 25093705 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | HG03195.hp2 HG03225.hp1 NA18906.hp1 |
a0001a0005a0013 | a0001c0089a0005c0018a0013c0116 | a0001c0089t0007a0005c0018t0004a0013c0116t0032 | a0001c0089t0007g0232 a0005c0018t0004g0061 a0013c0116t0032g0164 |
3 | 252 | 0.0119 | -34 | c.453 others(55): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KIDINS220_chr2_8723858_8842613 | 8744377 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 312 | 0.0032 | -34 | c.358 others(53): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744381 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0292 | 1 | 307 | 0.0033 | -34 | c.358 others(53): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744385 | AAAAATAT others(27): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 331 | 0.0030 | -34 | c.358 others(53): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIDINS220_chr2_8723858_8842613 | 8744389 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0107 | 1 | 322 | 0.0031 | -34 | c.358 others(53): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786707 | AGGACCCC others(27): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0320 | 1 | 328 | 0.0030 | -34 | c.430 others(49): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240786741 | TGGGCCCC others(27): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0227 | 1 | 326 | 0.0031 | -34 | c.430 others(49): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar |