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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGFN1_chr1_201185824_201233952 | 201210972 | C | CGGTCAAT others(209): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp1 HG02970.hp2 HG06807.hp2 |
a0020 | a0020c0029 | a0020c0029t0002 | a0020c0029t0002g0031 a0020c0029t0002g0120 |
3 | 428 | 0.0070 | 216 | c.612 others(225): Show |
p.Pro others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6255/11811 | 6124/11127 | 2042/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201210972 | C | CGGTCAAT others(209): Show |
disruptive_inframe_insertion | MODERATE | NA18957.hp1 | a0071 | a0071c0064 | a0071c0064t0003 | a0071c0064t0003g0237 | 1 | 428 | 0.0023 | 216 | c.611 others(225): Show |
p.Gly others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6250/11811 | 6119/11127 | 2040/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IGFN1_chr1_201185824_201233952 | 201210972 | C | CGGTCAAT others(209): Show |
disruptive_inframe_insertion | MODERATE | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(107): Show |
a0001a0005a0028others(19): Show | a0001c0001a0001c0013a0001c0017others(41): Show | a0001c0001t0001a0001c0013t0001a0001c0013t0011others(43): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(86): Show |
110 | 428 | 0.2570 | 216 | c.611 others(225): Show |
p.Gly others(231): Show |
IGFN1 | ENSG00000163395.17 | transcript | ENST00000335211.9 | protein_coding | 12/24 | 6250/11811 | 6119/11127 | 2040/3708 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(209): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(80): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(13): Show | a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0275 others(46): Show |
83 | 440 | 0.1886 | 216 | c.103 others(233): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81688664 | A | AAAAGAAA others(209): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0091 | 1 | 380 | 0.0026 | 216 | c.-24 others(227): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 2340 | chr8 | TogoVar | |||||||
INMT_chr7_30747135_30762602 | 30758218 | G | GGCTCACT others(209): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG03710.hp1 HG03834.hp1 |
a0007a0012 | a0007c0010a0012c0015 | a0007c0010t0033a0012c0015t0027 | a0007c0010t0033g0040 a0012c0015t0027g0020 |
3 | 434 | 0.0069 | 216 | c.*23 others(227): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 617 | chr7 | TogoVar | |||||||
INMT_chr7_30747135_30762602 | 30758252 | C | CATTCTCC others(209): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(23): Show |
a0004a0006 | a0004c0004a0006c0005 | a0004c0004t0006a0004c0004t0025a0006c0005t0006others(3): Show | a0004c0004t0006g0006 a0004c0004t0006g0008 a0004c0004t0025g0006 others(6): Show |
26 | 434 | 0.0599 | 216 | c.*24 others(227): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 651 | chr7 | TogoVar | |||||||
INMT_chr7_30747135_30762602 | 30758252 | C | CATTCTCC others(209): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0006 | a0006c0005 | a0006c0005t0006 | a0006c0005t0006g0006 | 1 | 434 | 0.0023 | 216 | c.*24 others(227): Show |
INMT | ENSG00000241644.2 | transcript | ENST00000013222.5 | protein_coding | 651 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132772532 | G | GGACACTC others(209): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 204 | 0.0049 | 216 | c.978 others(233): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(209): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0238 | 1 | 264 | 0.0038 | 216 | c.-62 others(233): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10224731 | T | TCCATCCA others(209): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18906.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0051 a0004c0005t0001g0275 |
2 | 292 | 0.0069 | 216 | c.121 others(235): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224735 | T | TCCATCCA others(209): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(79): Show |
a0001a0008a0009others(3): Show | a0001c0001a0001c0014a0001c0023others(5): Show | a0001c0001t0001a0001c0014t0001a0001c0023t0001others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0013 others(79): Show |
82 | 292 | 0.2808 | 216 | c.121 others(235): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400708 | A | AATATTAT others(209): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0013 | a0004c0013t0016 | a0004c0013t0016g0184 | 1 | 242 | 0.0041 | 216 | c.164 others(233): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400728 | A | AAATATTA others(209): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0005 | a0005c0018 | a0005c0018t0043 | a0005c0018t0043g0036 | 1 | 242 | 0.0041 | 216 | c.164 others(233): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086190 | T | TTATATAT others(209): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 402 | 0.0025 | 216 | c.292 others(235): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186605797 | A | AATATATT others(209): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0009a0001c0008t0020 | a0001c0001t0002g0002 a0001c0001t0009g0070 a0001c0008t0020g0094 |
4 | 308 | 0.0130 | 216 | c.316 others(233): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406396 | C | CGTCTTCC others(209): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0176 | a0001c0001t0176g0204 | 1 | 276 | 0.0036 | 216 | c.*43 others(225): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 437 | chr2 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26831677 | T | TTTATATA others(209): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0135 | 1 | 142 | 0.0070 | 216 | c.92+ others(231): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546511 | T | TCTTTTCT others(209): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG03669.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0021 |
3 | 426 | 0.0070 | 216 | c.-86 others(225): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 615 | chr9 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124673442 | A | ACATATAG others(209): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0005 | a0005c0047 | a0005c0047t0003 | a0005c0047t0003g0007 | 1 | 116 | 0.0086 | 216 | c.694 others(233): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 48/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124673514 | A | ACATATAG others(209): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18906.hp2 |
a0001 | a0001c0028a0001c0070 | a0001c0028t0020a0001c0070t0022 | a0001c0028t0020g0114 a0001c0070t0022g0102 |
2 | 116 | 0.0172 | 216 | c.694 others(233): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 48/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124673514 | A | ACATATAG others(209): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 |
a0001 | a0001c0030a0001c0039 | a0001c0030t0003a0001c0039t0032 | a0001c0030t0003g0018 a0001c0039t0032g0100 |
2 | 116 | 0.0172 | 216 | c.694 others(233): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 48/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88310229 | G | GATATACC others(209): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0017 a0001c0002t0017g0018 |
2 | 334 | 0.0060 | 216 | c.52+ others(233): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
KCNK9_chr8_139612121_139708123 | 139687464 | A | ATATATGT others(209): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 322 | 0.0031 | 216 | c.283 others(235): Show |
KCNK9 | ENSG00000169427.8 | transcript | ENST00000520439.3 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63432458 | C | CTCCACCC others(209): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01109.hp2 others(3): Show |
a0002 | a0002c0001a0002c0018 | a0002c0001t0020a0002c0001t0058a0002c0018t0038 | a0002c0001t0020g0204 a0002c0001t0020g0206 a0002c0001t0020g0243 others(3): Show |
6 | 330 | 0.0182 | 216 | c.111 others(235): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 8/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442752 | T | TCACCATC others(209): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0196 | 1 | 330 | 0.0030 | 216 | c.691 others(231): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442782 | C | CCACCATC others(209): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02723.hp1 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0004a0001c0016t0051 | a0001c0004t0004g0095 a0001c0016t0051g0160 |
2 | 330 | 0.0061 | 216 | c.691 others(231): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63442854 | C | CCACCACC others(209): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0041 | 1 | 330 | 0.0030 | 216 | c.691 others(231): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIAA0825_chr5_94145851_94623604 | 94608474 | A | ATATTATA others(209): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0039 | 1 | 54 | 0.0185 | 216 | c.-15 others(237): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(209): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0008 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(209): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(209): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525918 | T | TTTCTTCT others(209): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0096 |
2 | 308 | 0.0065 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTCCTT others(209): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0205 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(209): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18951.hp2 NA18987.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0068a0001c0007t0002 | a0001c0001t0002g0267 a0001c0001t0068g0249 a0001c0007t0002g0274 |
3 | 308 | 0.0097 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(209): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0221 a0001c0001t0002g0200 a0001c0001t0002g0276 others(2): Show |
5 | 308 | 0.0162 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(209): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525964 | T | TTCTTCTC others(209): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(209): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(209): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(209): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0044 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(209): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0082 | 1 | 308 | 0.0033 | 216 | c.-25 others(235): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(209): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0009a0001c0045others(9): Show | a0001c0005t0001a0001c0009t0001a0001c0009t0002others(10): Show | a0001c0005t0001g0121 a0001c0005t0001g0128 a0001c0005t0001g0178 others(23): Show |
26 | 414 | 0.0628 | 216 | c.480 others(231): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
KIF1A_chr2_240708767_240825219 | 240780984 | A | AGCTCCAC others(209): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0050 | a0005c0050t0001 | a0005c0050t0001g0234 | 1 | 330 | 0.0030 | 216 | c.882 others(233): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87726345 | G | GCCGCGCC others(209): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 380 | 0.0026 | 216 | c.759 others(231): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | |||||||
KLHL6_chr3_183482551_183560706 | 183534073 | C | CCTTTAAA others(209): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0207 | 1 | 298 | 0.0034 | 216 | c.294 others(233): Show |
KLHL6 | ENSG00000172578.12 | transcript | ENST00000341319.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409043 | C | CCTCCTCT others(209): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0033 | 1 | 370 | 0.0027 | 216 | c.-27 others(227): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2709 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360614 | A | ATGGATAG others(209): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0103 | a0103c0131 | a0103c0131t0001 | a0103c0131t0001g0070 | 1 | 186 | 0.0054 | 216 | c.450 others(233): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857498 | G | GAGTGGTG others(209): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 294 | 0.0034 | 216 | c.153 others(235): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857498 | G | GAGTGGTG others(209): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0030 | 1 | 294 | 0.0034 | 216 | c.153 others(235): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar |