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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L1_chr15_23122066_23141822 | 23136637 | TGGGGATG others(48): Show |
T | frameshift_variant | HIGH | NA18974.hp2 | a0033 | a0033c0061 | a0033c0061t0001 | a0033c0061t0001g0104 | 1 | 204 | 0.0049 | -55 | c.40_ others(60): Show |
p.His others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 185/3822 | 40/2007 | 14/668 | chr15 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55029338 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0405 | 1 | 441 | 0.0023 | -55 | c.326 others(72): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453307 | CGCTCCCA others(48): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA20752.hp2 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0050a0002c0007t0001g0321 | 2 | 398 | 0.0050 | -55 | c.167 others(72): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92527152 | GAAAGAAA others(48): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 42 | 0.0238 | -55 | c.156 others(78): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GRHPR_chr9_37417696_37441990 | 37418280 | TAACACAT others(48): Show |
T | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | -55 | c.-44 others(66): Show |
GRHPR | ENSG00000137106.18 | transcript | ENST00000318158.11 | protein_coding | 4415 | chr9 | TogoVar | ||||||
GRIN2B_chr12_13532337_13986602 | 13607170 | AATATATA others(48): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0028 | a0001c0028t0045 | a0001c0028t0045g0042 | 1 | 194 | 0.0052 | -55 | c.201 others(74): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59234327 | AACATATT others(48): Show |
A | downstream_gene_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -55 | c.*38 others(66): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3557 | chr18 | TogoVar | ||||||
GRP_chr18_59215158_59235771 | 59234362 | AACATATT others(48): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016 | 4 | 408 | 0.0098 | -55 | c.*38 others(66): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3592 | chr18 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27888427 | TCTTTCTT others(48): Show |
T | intron_variant | MODIFIER | HG02293.hp2 HG02717.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0035a0001c0002t0047 | a0001c0001t0003g0115a0001c0002t0035g0032a0001c0002t0047g0160 | 3 | 240 | 0.0125 | -55 | c.398 others(72): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315819 | CACACACA others(48): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02451.hp1 others(1): Show |
a0001a0010 | a0001c0003a0010c0031 | a0001c0003t0002a0010c0031t0005 | a0001c0003t0002g0084a0001c0003t0002g0085a0001c0003t0002g0101others(1): Show | 4 | 155 | 0.0258 | -55 | c.488 others(70): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14696953 | ATATAAAG others(48): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01109.hp1 others(36): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0130a0001c0001t0001g0135others(35): Show | 39 | 236 | 0.1653 | -55 | c.-56 others(64): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 355 | chr12 | TogoVar | ||||||
H3-7_chr1_143900510_143910977 | 143909167 | ACCCGGGA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 300 | 0.0033 | -55 | c.-32 others(66): Show |
H3-7 | ENSG00000273213.4 | transcript | ENST00000392948.5 | protein_coding | 3191 | chr1 | TogoVar | ||||||
HCAR1_chr12_122721076_122735844 | 122734131 | CTGGTCAG others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0000 | 1 | 436 | 0.0023 | -55 | c.-38 others(66): Show |
HCAR1 | ENSG00000196917.6 | transcript | ENST00000432564.3 | protein_coding | 3288 | chr12 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239263275 | GCCCAGCC others(48): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(7): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0003a0001c0001t0052a0001c0001t0056others(7): Show | a0001c0001t0003g0093a0001c0001t0052g0073a0001c0001t0056g0127others(7): Show | 10 | 242 | 0.0413 | -55 | c.23- others(72): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
HERC4_chr10_67916905_68080283 | 68059681 | CATAATAT others(48): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0196a0001c0002t0005g0197a0001c0002t0005g0198 | 3 | 360 | 0.0083 | -55 | c.226 others(74): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 3/24 | chr10 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41605128 | AAGGGAAG others(48): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0116 | 1 | 134 | 0.0075 | -55 | c.-52 others(76): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
HMSD_chr18_63944301_63966835 | 63949289 | GCCCGCCT others(48): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18992.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0027 | 2 | 404 | 0.0050 | -55 | c.-21 others(64): Show |
HMSD | ENSG00000221887.6 | transcript | ENST00000408945.5 | protein_coding | 1/4 | 4112 | chr18 | TogoVar | |||||
HNF4A_chr20_44350699_44437845 | 44435982 | TTGTGGTT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0318 | 1 | 322 | 0.0031 | -55 | c.*63 others(66): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 3138 | chr20 | TogoVar | ||||||
HNRNPL_chr19_38831370_38854986 | 38854871 | CCACCTCA others(48): Show |
C | upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 392 | 0.0026 | -55 | c.-49 others(66): Show |
HNRNPL | ENSG00000104824.18 | transcript | ENST00000221419.10 | protein_coding | 4886 | chr19 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23277641 | GAGGCTGA others(48): Show |
G | intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0138 | 1 | 394 | 0.0025 | -55 | c.41- others(68): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
HOXA3_chr7_27102010_27157583 | 27151625 | CATCGAAA others(48): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 326 | 0.0031 | -55 | c.-49 others(72): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25710453 | ATTTTTAC others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 164 | 0.7378 | -55 | c.734 others(74): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HUNK_chr21_31868020_32009064 | 31919043 | GGGGCTGG others(48): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0228 | 1 | 328 | 0.0031 | -55 | c.262 others(72): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
IFNLR1_chr1_24149168_24192289 | 24162723 | CTTTTCTT others(48): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0332a0001c0002t0001g0169 | 2 | 396 | 0.0051 | -55 | c.368 others(72): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(48): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG01255.hp2 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0036others(3): Show | a0001c0001t0005a0001c0001t0035a0001c0002t0007others(4): Show | a0001c0001t0005g0114a0001c0001t0005g0115a0001c0001t0005g0120others(9): Show | 12 | 310 | 0.0387 | -55 | c.684 others(74): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
IL15_chr4_141631583_141738987 | 141712586 | TTATATAT others(48): Show |
T | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 298 | 0.0034 | -55 | c.-99 others(72): Show |
IL15 | ENSG00000164136.17 | transcript | ENST00000320650.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
IL33_chr9_6210807_6262983 | 6218751 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01123.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0009a0001c0001t0001g0064a0001c0001t0001g0065others(10): Show | 14 | 362 | 0.0387 | -55 | c.-12 others(72): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IL33_chr9_6210807_6262983 | 6218770 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0005g0036others(2): Show | 5 | 362 | 0.0138 | -55 | c.-12 others(72): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1366944 | CGGGGTGC others(48): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 115 | 0.0087 | -55 | c.874 others(72): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IMPA1_chr8_81651914_81691325 | 81685202 | TAGATACT others(48): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0245 | 1 | 380 | 0.0026 | -55 | c.-25 others(71): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
INO80_chr15_40973880_41121280 | 41031557 | GGGAGGAA others(48): Show |
G | intron_variant | MODIFIER | HG02074.hp1 HG04204.hp2 |
a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0001a0001c0004t0011g0002 | 2 | 282 | 0.0071 | -55 | c.290 others(74): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132741723 | TGTCCGCT others(48): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(114): Show | 117 | 204 | 0.5735 | -55 | c.733 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764435 | CGGTGGGA others(48): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0018a0001c0005t0019 | a0001c0005t0001g0185a0001c0005t0001g0186a0001c0005t0018g0038others(1): Show | 4 | 204 | 0.0196 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764478 | TCAGTCCT others(48): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0002g0029 | 3 | 204 | 0.0147 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764662 | CGTGGTGA others(48): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0111 | 2 | 204 | 0.0098 | -55 | c.904 others(72): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764977 | CGGTGGGA others(48): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0001t0002g0094a0001c0004t0002g0013a0001c0004t0002g0014others(4): Show | 7 | 204 | 0.0343 | -55 | c.904 others(70): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5K_chr17_1489577_1521612 | 1508734 | GTGGGGCA others(48): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(89): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0010others(49): Show | 92 | 420 | 0.2191 | -55 | c.554 others(70): Show |
INPP5K | ENSG00000132376.20 | transcript | ENST00000421807.7 | protein_coding | 5/11 | chr17 | TogoVar | ||||||
INPP5K_chr17_1489577_1521612 | 1508782 | CGGTCAGC others(48): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 420 | 0.0024 | -55 | c.554 others(70): Show |
INPP5K | ENSG00000132376.20 | transcript | ENST00000421807.7 | protein_coding | 5/11 | chr17 | TogoVar | ||||||
INSIG2_chr2_118083471_118115997 | 118093442 | TGATGATG others(48): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 3 | 440 | 0.0068 | -55 | c.-13 others(74): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236357749 | TATATAAA others(48): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0044a0001c0001t0002g0191a0001c0001t0004g0052others(6): Show | 9 | 208 | 0.0433 | -55 | c.186 others(74): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2583866 | TGCTGGGT others(48): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0015 | a0001c0010t0009a0002c0015t0002 | a0001c0010t0009g0005a0002c0015t0002g0075a0002c0015t0002g0076others(1): Show | 4 | 416 | 0.0096 | -55 | c.774 others(70): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2583928 | CGGCGGGG others(48): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03453.hp2 HG03579.hp1 others(1): Show |
a0009 | a0009c0013 | a0009c0013t0022a0009c0013t0068 | a0009c0013t0022g0051a0009c0013t0022g0084a0009c0013t0022g0154others(1): Show | 4 | 416 | 0.0096 | -55 | c.774 others(70): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2591875 | ACCTCCCA others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0010others(29): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(82): Show | a0001c0001t0001g0343a0001c0001t0005g0028a0001c0001t0005g0041others(162): Show | 166 | 416 | 0.3990 | -55 | c.124 others(72): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 130968 | CCCCCACA others(48): Show |
C | intron_variant | MODIFIER | HG02280.hp2 NA19030.hp2 |
a0008 | a0008c0016 | a0008c0016t0007a0008c0016t0061 | a0008c0016t0007g0058a0008c0016t0061g0015 | 2 | 282 | 0.0071 | -55 | c.903 others(72): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ISG20_chr15_88634016_88661483 | 88652417 | TCCTCCCC others(48): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 436 | 0.0023 | -55 | c.429 others(70): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ITGA8_chr10_15508954_15724922 | 15694316 | TATATATG others(48): Show |
T | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 220 | 0.0046 | -55 | c.344 others(72): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37511989 | TTTTCTTT others(48): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0046 | 1 | 168 | 0.0060 | -55 | c.898 others(72): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37512120 | CTTTCTTT others(48): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0011a0001c0001t0006g0056 | 2 | 168 | 0.0119 | -55 | c.898 others(72): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4807092 | GCTTACAA others(48): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0004a0001c0001t0001g0037a0001c0001t0001g0142others(53): Show | 56 | 176 | 0.3182 | -55 | c.727 others(72): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR2_chr12_26330352_26838194 | 26783979 | GAAAAGGA others(48): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(33): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0013others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0008others(31): Show | a0001c0001t0002g0095a0001c0001t0003g0096a0001c0002t0008g0100others(33): Show | 36 | 142 | 0.2535 | -55 | c.163 others(72): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar |