| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IL1RAPL1_chrX_28582446_29961718 | 29323709 | TTTTTTAT others(25): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 135 | 0.0074 | -32 | c.362 others(51): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29323713 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 135 | 0.0074 | -32 | c.362 others(51): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29363810 | GATGGTGC others(25): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 135 | 0.0074 | -32 | c.363 others(51): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29406690 | TTTAAGTC others(25): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0061a0001c0001t0001g0068others(8): Show | 11 | 135 | 0.0815 | -32 | c.703 others(49): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29562107 | ATCTATCT others(25): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0041a0001c0001t0007g0066 | 2 | 135 | 0.0148 | -32 | c.704 others(53): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | chrX | TogoVar | ||||||
| IL1RAPL1_chrX_28582446_29961718 | 29802759 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0066 | 1 | 135 | 0.0074 | -32 | c.779 others(53): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29802994 | TATGTATG others(25): Show |
T | intron_variant | MODIFIER | HG01943.hp1 HG01952.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0099a0001c0001t0005g0065a0001c0001t0008g0059 | 3 | 135 | 0.0222 | -32 | c.779 others(53): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29906460 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03492.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0021a0001c0001t0002g0053a0001c0001t0003g0026others(2): Show | 5 | 135 | 0.0370 | -32 | c.779 others(51): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29953859 | TCAGTTGA others(25): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01258.hp1 HG01261.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0063a0001c0001t0001g0075a0001c0001t0002g0018others(3): Show | 6 | 135 | 0.0444 | -32 | c.120 others(49): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL2_chrX_104561199_105772829 | 104599650 | GCACACAC others(25): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 141 | 0.0071 | -32 | c.-20 others(51): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL2_chrX_104561199_105772829 | 104818244 | TGAGGCAG others(25): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 141 | 0.0071 | -32 | c.82+ others(51): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RL1_chr2_102306563_102357037 | 102311986 | TATTATAT others(25): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02559.hp2 others(5): Show |
a0002a0003a0010 | a0002c0002a0003c0007a0010c0018 | a0002c0002t0001a0003c0007t0001a0010c0018t0001 | a0002c0002t0001g0023a0002c0002t0001g0062a0002c0002t0001g0063others(4): Show | 8 | 348 | 0.0230 | -32 | c.-15 others(49): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
| IL20RB_chr3_136952983_137016085 | 137008994 | GACTGCAC others(25): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 320 | 0.0031 | -32 | c.826 others(49): Show |
IL20RB | ENSG00000174564.13 | transcript | ENST00000329582.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IL23R_chr1_67161454_67264979 | 67227940 | ATCTTTCT others(25): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0013 | a0004c0004t0001g0035a0004c0004t0013g0056 | 2 | 290 | 0.0069 | -32 | c.955 others(49): Show |
IL23R | ENSG00000162594.17 | transcript | ENST00000347310.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IL2RA_chr10_6005689_6067367 | 6031442 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0095a0001c0001t0001g0113a0001c0001t0001g0114others(15): Show | 19 | 414 | 0.0459 | -32 | c.65- others(47): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
| IL31_chr12_122167029_122179221 | 122177657 | ACCATGCC others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -32 | c.-35 others(43): Show |
IL31 | ENSG00000204671.2 | transcript | ENST00000377035.2 | protein_coding | 3437 | chr12 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1355163 | AGGAGGGG others(25): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01433.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0081a0001c0001t0003g0107 | 3 | 115 | 0.0261 | -32 | c.617 others(49): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL4R_chr16_27308974_27369778 | 27365670 | GGGGTATT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG01069.hp2 others(38): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0007a0003c0003t0002others(3): Show | a0001c0001t0002g0187a0001c0001t0007g0061a0001c0001t0007g0063others(35): Show | 41 | 332 | 0.1235 | -32 | c.*18 others(43): Show |
IL4R | ENSG00000077238.14 | transcript | ENST00000395762.7 | protein_coding | 893 | chr16 | TogoVar | ||||||
| IL4_chr5_132668989_132687678 | 132683729 | CTGTGTGT others(25): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00609.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0012others(29): Show | 63 | 422 | 0.1493 | -32 | c.*11 others(43): Show |
IL4 | ENSG00000113520.11 | transcript | ENST00000231449.7 | protein_coding | 1052 | chr5 | TogoVar | ||||||
| IL6ST_chr5_55930095_55999963 | 55939709 | GTGGTTAG others(25): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0241 | 1 | 278 | 0.0036 | -32 | c.*13 others(43): Show |
IL6ST | ENSG00000134352.21 | transcript | ENST00000381298.7 | protein_coding | 17/17 | 1341 | chr5 | TogoVar | |||||
| ILDR2_chr1_166903187_166980540 | 166909749 | ATATATAT others(25): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03471.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0056a0001c0001t0132 | a0001c0001t0056g0135a0001c0001t0132g0285 | 2 | 342 | 0.0059 | -32 | c.*95 others(43): Show |
ILDR2 | ENSG00000143195.13 | transcript | ENST00000271417.8 | protein_coding | 10/10 | 9574 | chr1 | TogoVar | |||||
| IMMP2L_chr7_110657644_111567492 | 111281140 | CAGAAAGA others(25): Show |
C | intron_variant | MODIFIER | HG04184.hp1 NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017 | a0001c0001t0001g0036a0001c0001t0011g0025a0001c0001t0017g0083 | 3 | 84 | 0.0357 | -32 | c.239 others(53): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| IMMP2L_chr7_110657644_111567492 | 111539176 | GAAGGAAG others(25): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0006 | 1 | 84 | 0.0119 | -32 | c.-2- others(49): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| IMP3_chr15_75634093_75645224 | 75638959 | TGAGGCAG others(25): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 400 | 0.0025 | -32 | c.*62 others(41): Show |
IMP3 | ENSG00000177971.9 | transcript | ENST00000403490.3 | protein_coding | 133 | chr15 | TogoVar | ||||||
| IMPA2_chr18_11976507_12035877 | 11999396 | TCACGTCA others(25): Show |
T | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217 | 1 | 364 | 0.0028 | -32 | c.230 others(47): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| IMPG2_chr3_101217546_101325575 | 101226225 | TTATATAT others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01975.hp1 HG02809.hp2 HG02922.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0084a0002c0003t0018 | a0002c0002t0084g0086a0002c0003t0018g0219a0002c0003t0018g0220others(3): Show | 6 | 360 | 0.0167 | -32 | c.*71 others(41): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 19/19 | 712 | chr3 | TogoVar | |||||
| IMPG2_chr3_101217546_101325575 | 101256145 | AAAAGAAA others(25): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 360 | 0.0028 | -32 | c.115 others(51): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 10/18 | chr3 | TogoVar | ||||||
| INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02970.hp2 HG03098.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0041a0001c0001t0042a0001c0003t0002others(2): Show | a0001c0001t0041g0213a0001c0001t0042g0031a0001c0003t0002g0250others(5): Show | 8 | 334 | 0.0240 | -32 | c.-12 others(51): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142061885 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(44): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0002g0028others(44): Show | 47 | 90 | 0.5222 | -32 | c.264 others(53): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 25/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142581466 | GGAAATAG others(25): Show |
G | intron_variant | MODIFIER | HG02015.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0009a0001c0002t0002a0001c0006t0006others(3): Show | a0001c0001t0009g0034a0001c0002t0002g0050a0001c0006t0006g0051others(3): Show | 6 | 90 | 0.0667 | -32 | c.-19 others(55): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142693483 | TAAAAAAA others(25): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0003 | 1 | 90 | 0.0111 | -32 | c.-19 others(53): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(25): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0250 | 1 | 310 | 0.0032 | -32 | c.235 others(49): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| INPP5E_chr9_136423619_136444845 | 136443254 | CGGGCCTG others(25): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0018 | a0001c0018t0021 | a0001c0018t0021g0140 | 1 | 382 | 0.0026 | -32 | c.-38 others(43): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 3410 | chr9 | TogoVar | ||||||
| INPP5F_chr10_119721050_119834147 | 119771864 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019 | 2 | 328 | 0.0061 | -32 | c.179 others(49): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INSC_chr11_15109923_15252208 | 15229963 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG03139.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0024 | a0001c0001t0001g0237a0001c0001t0005g0063a0001c0001t0005g0130others(1): Show | 4 | 270 | 0.0148 | -32 | c.117 others(51): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124562 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA19066.hp2 |
a0001 | a0001c0003a0001c0047 | a0001c0003t0069a0001c0047t0158 | a0001c0003t0069g0017a0001c0047t0158g0288 | 2 | 300 | 0.0067 | -32 | c.325 others(49): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124564 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0144 | a0001c0003t0144g0259 | 1 | 300 | 0.0033 | -32 | c.325 others(49): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7149936 | AGAAGGAA others(25): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(19): Show |
a0001a0005 | a0001c0006a0001c0010a0001c0012others(12): Show | a0001c0006t0065a0001c0010t0008a0001c0010t0030others(19): Show | a0001c0006t0065g0011a0001c0010t0008g0257a0001c0010t0030g0263others(19): Show | 22 | 300 | 0.0733 | -32 | c.226 others(49): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 11/21 | chr19 | TogoVar | ||||||
| INTS11_chr1_1306600_1329660 | 1324139 | GGGGGCTG others(25): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG02280.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0147a0001c0001t0001g0148a0001c0001t0001g0149others(6): Show | 9 | 354 | 0.0254 | -32 | c.28+ others(45): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | ||||||
| INTS3_chr1_153723050_153779808 | 153770058 | GGTGTGTG others(25): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01167.hp1 others(35): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0002t0001g0008a0001c0002t0001g0035a0001c0002t0001g0057others(33): Show | 38 | 349 | 0.1089 | -32 | c.239 others(48): Show |
INTS3 | ENSG00000143624.14 | transcript | ENST00000318967.7 | protein_coding | 23/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| INVS_chr9_100094243_100307175 | 100185516 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0138 | 1 | 182 | 0.0055 | -32 | c.274 others(51): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| IPCEF1_chr6_154149496_154361803 | 154152323 | GAAAGAAA others(25): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 264 | 0.0038 | -32 | c.*74 others(43): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2172 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154354996 | TCACACAC others(25): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0004a0001c0001t0005g0002a0001c0001t0007g0003 | 3 | 264 | 0.0114 | -32 | c.-62 others(49): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IQANK1_chr8_143729139_143795645 | 143772494 | AGAGGTGT others(25): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0012 | a0012c0017 | a0012c0017t0001 | a0012c0017t0001g0195 | 1 | 349 | 0.0029 | -32 | c.789 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQANK1_chr8_143729139_143795645 | 143772507 | CCGGGAGG others(25): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0137 | 2 | 349 | 0.0057 | -32 | c.789 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQCA1_chr2_236319151_236512476 | 236416708 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 208 | 0.0048 | -32 | c.113 others(51): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 8/18 | chr2 | TogoVar | ||||||
| IQCJ_chr3_159064319_159268747 | 159091647 | TACACACA others(25): Show |
T | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0221 | 1 | 252 | 0.0040 | -32 | c.9+2 others(47): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159116614 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 252 | 0.0040 | -32 | c.9+4 others(47): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159116639 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0070a0001c0001t0001g0167others(8): Show | 11 | 252 | 0.0437 | -32 | c.9+4 others(47): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCM_chr4_149346709_149820843 | 149582307 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02897.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0124a0001c0001t0001g0161others(6): Show | 9 | 252 | 0.0357 | -32 | c.749 others(49): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 9/13 | chr4 | TogoVar |