| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SHOX_chrX_625791_656584 | 647604 | GGCCTCCC others(731): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0156 | 1 | 220 | 0.0046 | -738 | c.*30 others(11): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 3018 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| SNTG2_chr2_945849_1372613 | 1013149 | GAGAGAAG others(731): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0042 | 1 | 190 | 0.0053 | -738 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TSPAN9_chr12_3072379_3291559 | 3198150 | CCAGCACA others(731): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015a0001c0001t0071 | a0001c0001t0010g0040a0001c0001t0010g0041a0001c0001t0010g0056others(2): Show | 5 | 288 | 0.0174 | -738 | c.-17 others(17): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393283 | AGGCAGGT others(731): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG02698.hp1 HG03490.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0038a0001c0001t0095others(2): Show | a0001c0001t0007g0250a0001c0001t0038g0240a0001c0001t0095g0232others(2): Show | 5 | 346 | 0.0145 | -738 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393480 | GGTCAGGT others(731): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0108a0001c0001t0191a0001c0002t0001others(1): Show | a0001c0001t0108g0106a0001c0001t0191g0015a0001c0002t0001g0319others(1): Show | 4 | 346 | 0.0116 | -738 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1014205 | ACGGCGCC others(730): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0037 | 1 | 40 | 0.0250 | -737 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ECSCR_chr5_139443560_139467743 | 139452659 | GNNNNNNN others(730): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(363): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(151): Show | 366 | 369 | 0.9919 | -737 | c.512 others(17): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223361 | ACNNNNNN others(730): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0090others(10): Show | 13 | 183 | 0.0710 | -737 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 255015 | CGTGACTA others(730): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 133 | 0.0075 | -737 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 257147 | CGTCCCTA others(730): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0097 | 1 | 133 | 0.0075 | -737 | c.439 others(18): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057664 | CGGGGGGC others(730): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG01081.hp2 others(5): Show |
a0001a0005a0010 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(3): Show | a0001c0001t0001g0056a0001c0003t0001g0052a0001c0003t0001g0116others(5): Show | 8 | 314 | 0.0255 | -737 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291738 | CCCGTGTC others(730): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0074 | 1 | 284 | 0.0035 | -737 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82975121 | GGACTCCA others(729): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0039 | a0001c0001t0002g0133a0001c0001t0039g0260 | 2 | 266 | 0.0075 | -736 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| COPRS_chr17_31846871_31864244 | 31860896 | GACTCTAA others(729): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | -736 | c.-24 others(11): Show |
COPRS | ENSG00000172301.11 | transcript | ENST00000302362.11 | protein_coding | 1653 | chr17 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565512 | TCTGTCTG others(729): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 340 | 0.0029 | -736 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467468 | GTCTGACA others(729): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0135a0001c0001t0014g0001 | 2 | 418 | 0.0048 | -736 | c.*57 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 179 | chr5 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132303591 | GGGCACAC others(729): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0037 | a0006c0037t0001 | a0006c0037t0001g0010 | 1 | 183 | 0.0055 | -736 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| HABP4_chr9_96445169_96496336 | 96486531 | ATTTGTCC others(729): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 306 | 0.0033 | -736 | c.100 others(18): Show |
HABP4 | ENSG00000130956.14 | transcript | ENST00000375249.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| HLA-DQA1_chr6_32632406_32648684 | 32633156 | GCATGATG others(729): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG01256.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005a0002c0002t0002g0007 | 7 | 86 | 0.0814 | -736 | c.-43 others(11): Show |
HLA-DQA1 | ENSG00000196735.13 | transcript | ENST00000343139.11 | protein_coding | 4249 | chr6 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 467468 | GTCTGACA others(729): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0045 | 1 | 218 | 0.0046 | -736 | c.*51 others(11): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2987 | chr5 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(729): Show |
C | intron_variant | MODIFIER | HG03654.hp1 NA18957.hp2 NA20905.hp1 |
a0001a0003 | a0001c0001a0001c0025a0003c0007 | a0001c0001t0001a0001c0025t0001a0003c0007t0001 | a0001c0001t0001g0100a0001c0025t0001g0202a0003c0007t0001g0014 | 3 | 314 | 0.0096 | -736 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| UTP6_chr17_31855904_31906708 | 31860896 | GACTCTAA others(729): Show |
G | splice_region_variant | LOW | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0086 | 1 | 324 | 0.0031 | -736 | c.*17 others(11): Show |
UTP6 | ENSG00000108651.10 | transcript | ENST00000261708.9 | protein_coding | 19/19 | chr17 | TogoVar | ||||||
| ZC3H3_chr8_143432659_143546447 | 143487006 | CACACAGA others(729): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG03041.hp2 others(5): Show |
a0007a0015 | a0007c0008a0015c0026 | a0007c0008t0001a0015c0026t0001 | a0007c0008t0001g0170a0007c0008t0001g0171a0007c0008t0001g0172others(5): Show | 8 | 352 | 0.0227 | -736 | c.171 others(21): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | ||||||
| AASDH_chr4_56333290_56392491 | 56365117 | AAAGAAGG others(728): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0326 | 1 | 382 | 0.0026 | -735 | c.861 others(17): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236755708 | GTTAGAAC others(728): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(12): Show | a0001c0001t0001g0184a0001c0001t0002g0156a0001c0002t0002g0016others(75): Show | 78 | 344 | 0.2267 | -735 | c.215 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235524 | GCCTCCCG others(728): Show |
G | intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0011 | 1 | 106 | 0.0094 | -735 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391344 | CGCAGGGC others(728): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0003 | a0004c0003t0033 | a0004c0003t0033g0242 | 1 | 268 | 0.0037 | -735 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ASMTL_chrX_1398139_1457909 | 1408754 | GCAGGAGG others(728): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 185 | 0.0054 | -735 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408996 | GCAACACT others(728): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 185 | 0.0054 | -735 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82975029 | TTATGGGG others(728): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01361.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0032a0001c0002t0002others(6): Show | a0001c0001t0002g0058a0001c0001t0032g0162a0001c0002t0002g0086others(8): Show | 11 | 266 | 0.0414 | -735 | c.460 others(18): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1015393 | CGCCTCCA others(728): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | -735 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOCK4_chr7_111721110_112211399 | 111925913 | CCATCTCT others(728): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0003a0001c0008t0001 | a0001c0001t0001g0009a0001c0002t0003g0080a0001c0008t0001g0027 | 3 | 106 | 0.0283 | -735 | c.106 others(19): Show |
DOCK4 | ENSG00000128512.24 | transcript | ENST00000428084.6 | protein_coding | 12/52 | chr7 | TogoVar | ||||||
| GTF2H5_chr6_158163350_158204344 | 158202036 | CAACAGAG others(728): Show |
C | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0168 | 1 | 384 | 0.0026 | -735 | c.*98 others(12): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2693 | chr6 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834738 | GGAGGGGC others(728): Show |
G | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 394 | 0.0025 | -735 | c.127 others(15): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| L2HGDH_chr14_50237434_50317229 | 50240759 | CTGAGTAT others(728): Show |
C | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0278 | 1 | 360 | 0.0028 | -735 | c.*55 others(11): Show |
L2HGDH | ENSG00000087299.12 | transcript | ENST00000267436.9 | protein_coding | 1674 | chr14 | TogoVar | ||||||
| MAPKAPK5_chr12_111837228_111907222 | 111858637 | GGGTTCAA others(728): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01099.hp2 others(71): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0008others(24): Show | a0001c0001t0005g0003a0001c0001t0005g0006a0001c0001t0005g0139others(62): Show | 74 | 352 | 0.2102 | -735 | c.37- others(15): Show |
MAPKAPK5 | ENSG00000089022.15 | transcript | ENST00000550735.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| MUC4_chr3_195741771_195816929 | 195777164 | CCCATACC others(728): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG03540.hp1 |
a0097a0181 | a0097c0129a0181c0036 | a0097c0129t0002a0181c0036t0002 | a0097c0129t0002g0188a0181c0036t0002g0191 | 2 | 249 | 0.0080 | -735 | c.129 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 618540 | GGGTGTAC others(728): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 350 | 0.0029 | -735 | c.264 others(16): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZSCAN5A_chr19_56216303_56319839 | 56235075 | CCTCCACT others(728): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0080a0001c0001t0001g0183a0001c0001t0001g0240others(4): Show | 7 | 362 | 0.0193 | -735 | c.-12 others(20): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237978 | CTCCCGGT others(727): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0006 | a0006c0012 | a0006c0012t0007 | a0006c0012t0007g0006 | 1 | 106 | 0.0094 | -734 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CNTNAP4_chr16_76272401_76565757 | 76565023 | CCCTGCAG others(727): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0014a0003c0003others(2): Show | a0001c0001t0005a0002c0014t0013a0003c0003t0005others(2): Show | a0001c0001t0005g0163a0002c0014t0013g0054a0002c0014t0013g0263others(4): Show | 7 | 274 | 0.0256 | -734 | c.*63 others(11): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 4267 | chr16 | TogoVar | ||||||
| LCA5L_chr21_39400728_39450778 | 39418045 | CGTGAGCC others(727): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 340 | 0.0029 | -734 | c.975 others(17): Show |
LCA5L | ENSG00000157578.14 | transcript | ENST00000288350.8 | protein_coding | 7/10 | chr21 | TogoVar | ||||||
| MRPS26_chr20_3041052_3053250 | 3052516 | GCAGCCTG others(727): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0020 | 2 | 438 | 0.0046 | -734 | c.*46 others(11): Show |
MRPS26 | ENSG00000125901.6 | transcript | ENST00000380325.4 | protein_coding | 4267 | chr20 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686766 | TCCCCCGC others(727): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0183 | 1 | 362 | 0.0028 | -734 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| TNNI3K_chr1_74230387_74549428 | 74518835 | ACCTTACT others(727): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01261.hp1 others(40): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0032a0001c0001t0001g0033others(40): Show | 43 | 194 | 0.2217 | -734 | c.235 others(21): Show |
TNNI3K | ENSG00000116783.15 | transcript | ENST00000326637.8 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7784162 | ACTGGGAA others(727): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0051 | 1 | 250 | 0.0040 | -734 | c.83- others(17): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686243 | CCCCCCGC others(726): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 362 | 0.0028 | -733 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281059 | CGGCGGCG others(726): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0118 | 1 | 330 | 0.0030 | -733 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TLCD2_chr17_1697816_1715377 | 1700878 | TCAGCACT others(726): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp2 HG03471.hp1 HG06807.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0052a0002c0005t0027 | a0001c0001t0052g0150a0002c0005t0027g0057a0002c0005t0027g0216 | 4 | 451 | 0.0089 | -733 | c.*61 others(11): Show |
TLCD2 | ENSG00000185561.10 | transcript | ENST00000330676.8 | protein_coding | 1937 | chr17 | TogoVar | ||||||
| VSTM2B_chr19_29520994_29569551 | 29566896 | AGGGAGGG others(726): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0036a0001c0001t0001g0076a0001c0001t0001g0077others(5): Show | 10 | 406 | 0.0246 | -733 | c.*29 others(11): Show |
VSTM2B | ENSG00000187135.8 | transcript | ENST00000335523.8 | protein_coding | 2346 | chr19 | TogoVar |