| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HRH3_chr20_62209960_62225278 | 62213430 | GGGGATGG others(34): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0023 | 2 | 368 | 0.0054 | -41 | c.*25 others(52): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1529 | chr20 | TogoVar | |||||||
| HRH3_chr20_62209960_62225278 | 62223196 | CCTAGCTT others(34): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 368 | 0.0027 | -41 | c.-32 others(52): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 2919 | chr20 | TogoVar | |||||||
| HS6ST3_chr13_96085107_96844562 | 96118648 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 116 | 0.0086 | -41 | c.707 others(60): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| HS6ST3_chr13_96085107_96844562 | 96118662 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 116 | 0.0086 | -41 | c.707 others(60): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| HS6ST3_chr13_96085107_96844562 | 96254445 | AAAAATAT others(34): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0089a0001c0001t0004g0098 | 2 | 116 | 0.0172 | -41 | c.707 others(62): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| HS6ST3_chr13_96085107_96844562 | 96254447 | AAATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00099.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0097a0001c0001t0002g0006 | 2 | 116 | 0.0172 | -41 | c.707 others(62): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| HSD3B2_chr1_119410150_119428034 | 119421432 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 442 | 0.0023 | -41 | c.308 others(56): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
| HYDIN_chr16_70797084_71235722 | 70864330 | CAAAAAAA others(34): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0043 | a0002c0043t0002 | a0002c0043t0002g0011 | 1 | 174 | 0.0058 | -41 | c.114 others(62): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 67/85 | chr16 | TogoVar | |||||||
| IFIT5_chr10_89409568_89425997 | 89412281 | ATTGTAAA others(34): Show |
A | upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -41 | c.-25 others(52): Show |
IFIT5 | ENSG00000152778.10 | transcript | ENST00000371795.5 | protein_coding | 2286 | chr10 | TogoVar | |||||||
| IFNLR1_chr1_24149168_24192289 | 24153389 | GCCCTCCT others(34): Show |
G | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 396 | 0.0025 | -41 | c.*37 others(52): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 778 | chr1 | TogoVar | |||||||
| IFNW1_chr9_21135632_21146832 | 21145150 | ATTAGCCT others(34): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 480 | 0.0021 | -41 | c.-36 others(52): Show |
IFNW1 | ENSG00000177047.7 | transcript | ENST00000380229.4 | protein_coding | 3319 | chr9 | TogoVar | |||||||
| IFT140_chr16_1505427_1617072 | 1512159 | TGGTGGGG others(34): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp1 others(4): Show |
a0006a0011 | a0006c0007a0011c0012 | a0006c0007t0003a0011c0012t0003 | a0006c0007t0003g0159a0006c0007t0003g0160a0006c0007t0003g0161others(4): Show | 7 | 334 | 0.0210 | -41 | c.418 others(60): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 30/30 | chr16 | TogoVar | |||||||
| IFT140_chr16_1505427_1617072 | 1537184 | AGCCAGGG others(34): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0008 | a0008c0015 | a0008c0015t0003 | a0008c0015t0003g0055 | 1 | 334 | 0.0030 | -41 | c.240 others(62): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 19/30 | chr16 | TogoVar | |||||||
| IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(34): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG02976.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0003a0002c0015others(4): Show | a0001c0002t0007a0002c0003t0001a0002c0003t0064others(5): Show | a0001c0002t0007g0091a0002c0003t0001g0241a0002c0003t0064g0213others(5): Show | 8 | 310 | 0.0258 | -41 | c.684 others(60): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
| IKBIP_chr12_98619249_98649788 | 98648580 | GCATACAT others(34): Show |
G | upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0341 | 1 | 414 | 0.0024 | -41 | c.-39 others(52): Show |
IKBIP | ENSG00000166130.15 | transcript | ENST00000299157.5 | protein_coding | 3793 | chr12 | TogoVar | |||||||
| IL17F_chr6_52231681_52249500 | 52248286 | TTATCTTT others(34): Show |
T | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 432 | 0.0023 | -41 | c.-38 others(52): Show |
IL17F | ENSG00000112116.11 | transcript | ENST00000336123.5 | protein_coding | 3787 | chr6 | TogoVar | |||||||
| IL17REL_chr22_49986811_50017765 | 49999678 | CGGAGGTG others(34): Show |
C | intron_variant | MODIFIER | HG01074.hp1 NA18955.hp1 NA18964.hp1 |
a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0067a0003c0004t0016g0070a0003c0004t0016g0073 | 3 | 440 | 0.0068 | -41 | c.690 others(56): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
| IL17REL_chr22_49986811_50017765 | 49999738 | GGGTGGGC others(34): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0316 | 1 | 440 | 0.0023 | -41 | c.690 others(54): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
| IL1RAPL2_chrX_104561199_105772829 | 104585190 | CATGTATA others(34): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(5): Show | 8 | 141 | 0.0567 | -41 | c.-20 others(60): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL36B_chr2_113017089_113057867 | 113051004 | TGATCCTT others(34): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 404 | 0.0025 | -41 | c.-58 others(58): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
| IMPA1_chr8_81651914_81691325 | 81684266 | GTATACCA others(34): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0013a0001c0001t0007g0026a0001c0001t0007g0096others(10): Show | 16 | 380 | 0.0421 | -41 | c.-25 others(58): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| IMPA1_chr8_81651914_81691325 | 81684842 | GTAGTATA others(34): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(200): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0016a0001c0001t0001g0037others(127): Show | 203 | 380 | 0.5342 | -41 | c.-25 others(58): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
| INPP5D_chr2_233055342_233212903 | 233125538 | GCTGATGG others(34): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0182 | 1 | 310 | 0.0032 | -41 | c.350 others(56): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| INPP5E_chr9_136423619_136444845 | 136431266 | CCCCCCCA others(34): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 382 | 0.0026 | -41 | c.155 others(58): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
| INPP5E_chr9_136423619_136444845 | 136431451 | CTCCTCAT others(34): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03654.hp1 HG04228.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0170a0001c0003t0003g0171a0001c0003t0003g0172 | 3 | 382 | 0.0079 | -41 | c.154 others(58): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7124557 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0018 | a0001c0018t0072 | a0001c0018t0072g0079 | 1 | 300 | 0.0033 | -41 | c.325 others(58): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7124565 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0005 | a0001c0005t0016 | a0001c0005t0016g0120 | 1 | 300 | 0.0033 | -41 | c.325 others(58): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7124567 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0193 | 1 | 300 | 0.0033 | -41 | c.325 others(58): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
| INSR_chr19_7107265_7299414 | 7124569 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 NA20129.hp1 |
a0001 | a0001c0006a0001c0024 | a0001c0006t0016a0001c0006t0051a0001c0024t0119 | a0001c0006t0016g0104a0001c0006t0051g0031a0001c0024t0119g0265 | 3 | 300 | 0.0100 | -41 | c.325 others(58): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
| INS_chr11_2154779_2166209 | 2161592 | ACACCCCT others(34): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp2 NA18967.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 376 | 0.0080 | -41 | c.-48 others(50): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 384 | chr11 | TogoVar | |||||||
| IPO11_chr5_62407763_62633582 | 62598453 | TCTCTCTC others(34): Show |
T | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 330 | 0.0030 | -41 | c.267 others(60): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | chr5 | TogoVar | |||||||
| IRAK2_chr3_10159919_10248745 | 10237604 | GAGACCAT others(34): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0247 | 1 | 292 | 0.0034 | -41 | c.147 others(60): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| IRAK3_chr12_66184214_66259622 | 66257872 | TTACTATA others(34): Show |
T | downstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0145 | 1 | 346 | 0.0029 | -41 | c.*97 others(52): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 3251 | chr12 | TogoVar | |||||||
| ITGA11_chr15_68291532_68437163 | 68397249 | TTTTATAA others(34): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(82): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(73): Show | a0001c0001t0003g0122a0001c0001t0003g0161a0001c0001t0004g0073others(82): Show | 85 | 242 | 0.3512 | -41 | c.164 others(58): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
| ITGA3_chr17_50051110_50095481 | 50092635 | GTCTCAGT others(34): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp1 HG03579.hp2 HG03831.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0022a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0022t0001others(1): Show | a0001c0001t0001g0051a0001c0001t0002g0332a0001c0022t0001g0268others(1): Show | 4 | 402 | 0.0100 | -41 | c.*35 others(52): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 2155 | chr17 | TogoVar | |||||||
| ITGA8_chr10_15508954_15724922 | 15644453 | TATATATA others(34): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 220 | 0.0046 | -41 | c.120 others(58): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 12/29 | chr10 | TogoVar | |||||||
| ITGAM_chr16_31254975_31337877 | 31334500 | CTTTCCCT others(34): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0030 | 1 | 244 | 0.0041 | -41 | c.*27 others(52): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1624 | chr16 | TogoVar | |||||||
| ITIH2_chr10_7698316_7754520 | 7737631 | ATATTCTA others(34): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 380 | 0.0026 | -41 | c.195 others(58): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| JHY_chr11_122877759_122968862 | 122887307 | ATTATATC others(34): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0150 | 1 | 332 | 0.0030 | -41 | c.344 others(58): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
| JOSD1_chr22_38680543_38705943 | 38705128 | AAAGTGGT others(34): Show |
A | upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 376 | 0.0027 | -41 | c.-50 others(52): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 4186 | chr22 | TogoVar | |||||||
| JPH2_chr20_44101590_44192188 | 44133997 | ATATATAA others(34): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02155.hp2 NA20905.hp2 |
a0001 | a0001c0007 | a0001c0007t0024a0001c0007t0028 | a0001c0007t0024g0087a0001c0007t0028g0238a0001c0007t0028g0285 | 3 | 338 | 0.0089 | -41 | c.117 others(62): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
| JPH2_chr20_44101590_44192188 | 44134264 | TTTATTAT others(34): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0020 | a0002c0020t0091 | a0002c0020t0091g0251 | 1 | 338 | 0.0030 | -41 | c.117 others(62): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
| JPT1_chr17_75130248_75159512 | 75142588 | AGGGAGGG others(34): Show |
A | intron_variant | MODIFIER | NA18945.hp1 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 2 | 388 | 0.0052 | -41 | c.316 others(58): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
| KAZN_chr1_14593685_15123043 | 14681623 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0045 | 1 | 146 | 0.0069 | -41 | c.226 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 14681631 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG01258.hp1 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0007a0002c0006t0006 | a0001c0001t0007g0111a0002c0006t0006g0112 | 2 | 146 | 0.0137 | -41 | c.226 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 14681633 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0013t0021others(4): Show | a0001c0001t0002g0060a0001c0001t0002g0109a0001c0001t0003g0056others(8): Show | 11 | 146 | 0.0753 | -41 | c.226 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 14681635 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0100 | 1 | 146 | 0.0069 | -41 | c.226 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 14918688 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047a0002c0002t0001g0134 | 2 | 146 | 0.0137 | -41 | c.227 others(60): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KCNA10_chr1_110512217_110524175 | 110516187 | GCACTTTC others(34): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | -41 | c.*10 others(52): Show |
KCNA10 | ENSG00000143105.7 | transcript | ENST00000369771.4 | protein_coding | 1029 | chr1 | TogoVar | |||||||
| KCNC2_chr12_75035078_75214839 | 75179704 | GTATATCT others(34): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 316 | 0.0032 | -41 | c.687 others(60): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar |