| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTNNA2_chr2_79508051_80653780 | 80238001 | T | TGACGTGT others(339): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0003 | 1 | 68 | 0.0147 | 346 | c.105 others(369): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CX3CR1_chr3_39258496_39285036 | 39263895 | T | TGGATGAC others(339): Show |
3_prime_UTR_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0176 | 1 | 420 | 0.0024 | 346 | c.*15 others(357): Show |
CX3CR1 | ENSG00000168329.14 | transcript | ENST00000399220.3 | protein_coding | 2/2 | 1546 | chr3 | TogoVar | |||||
| CXorf51A_chrX_146809106_146819744 | 146812296 | T | TGTACATA others(339): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 264 | 0.0038 | 346 | c.*19 others(357): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146812296 | T | TGTACATA others(339): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 272 | 0.0037 | 346 | c.*19 others(357): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397707 | T | TGTGGGGG others(339): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 367 | 0.0027 | 346 | c.-42 others(357): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4177 | chr16 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2298616 | A | ACGCACAC others(339): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 50 | 0.0200 | 346 | c.287 others(363): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 608564 | C | CACACACA others(339): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 88 | 0.0114 | 346 | c.85+ others(363): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(339): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0007 | a0007c0012 | a0007c0012t0002 | a0007c0012t0002g0205 | 1 | 284 | 0.0035 | 346 | c.124 others(367): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(339): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG02040.hp1 others(21): Show |
a0001a0002a0003others(7): Show | a0001c0007a0002c0010a0003c0051others(8): Show | a0001c0007t0002a0002c0010t0002a0003c0051t0002others(9): Show | a0001c0007t0002g0103a0002c0010t0002g0272a0002c0010t0002g0277others(21): Show | 24 | 284 | 0.0845 | 346 | c.124 others(367): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(339): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0011 | a0011c0116 | a0011c0116t0001 | a0011c0116t0001g0191 | 1 | 284 | 0.0035 | 346 | c.124 others(367): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(339): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 284 | 0.0035 | 346 | c.124 others(367): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DNAH8_chr6_38710311_39035792 | 38964350 | G | GGACGGGG others(339): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0050 | 1 | 284 | 0.0035 | 346 | c.124 others(367): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 50841728 | T | TTATTGTT others(339): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18947.hp2 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0109a0001c0001t0001g0118others(1): Show | 4 | 212 | 0.0189 | 346 | c.162 others(359): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 262448 | T | TAAAAAAA others(339): Show |
intron_variant | MODIFIER | HG02523.hp1 HG03490.hp1 |
a0003 | a0003c0004a0003c0133 | a0003c0004t0001a0003c0133t0001 | a0003c0004t0001g0141a0003c0133t0001g0142 | 2 | 256 | 0.0078 | 346 | c.54- others(361): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634674 | C | CCCTTCCT others(339): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 250 | 0.0040 | 346 | c.105 others(363): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DPYSL2_chr8_26509031_26663175 | 26556341 | A | ATATATAT others(339): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 316 | 0.0032 | 346 | c.355 others(365): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DRICH1_chr22_23603452_23637321 | 23628412 | T | TAAAAATT others(339): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0007 | a0007c0005 | a0007c0005t0004 | a0007c0005t0004g0094 | 1 | 446 | 0.0022 | 346 | c.209 others(363): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63487017 | G | GCTGCCCA others(339): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 374 | 0.0027 | 346 | c.*12 others(357): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 996 | chr20 | TogoVar | ||||||
| EFEMP1_chr2_55860967_55928782 | 55873983 | T | TAAAAACA others(339): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074a0001c0001t0005g0253 | 2 | 350 | 0.0057 | 346 | c.100 others(363): Show |
EFEMP1 | ENSG00000115380.20 | transcript | ENST00000355426.8 | protein_coding | 9/11 | chr2 | TogoVar | ||||||
| EIF4G3_chr1_20801479_21181897 | 21166095 | T | TGACTATA others(339): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 312 | 0.0032 | 346 | c.-27 others(367): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 2/36 | chr1 | TogoVar | ||||||
| ELMOD3_chr2_85349769_85396748 | 85362448 | T | TAAGATAA others(339): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 NA18964.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0322a0001c0001t0001g0326others(1): Show | 7 | 386 | 0.0181 | 346 | c.129 others(361): Show |
ELMOD3 | ENSG00000115459.18 | transcript | ENST00000409013.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ELOVL6_chr4_110040846_110203615 | 110084414 | C | CATGATAT others(339): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206 | 1 | 338 | 0.0030 | 346 | c.221 others(365): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084414 | C | CATGATAT others(339): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0264 | 1 | 338 | 0.0030 | 346 | c.221 others(365): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ENTPD8_chr9_137429364_137446357 | 137441074 | C | CCCCCCAG others(339): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0068 | 1 | 392 | 0.0026 | 346 | c.-21 others(361): Show |
ENTPD8 | ENSG00000188833.10 | transcript | ENST00000371506.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 29100313 | C | CAAAAAAA others(339): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011 | a0001c0001t0002g0104a0001c0001t0005g0153a0001c0001t0005g0177others(1): Show | 4 | 312 | 0.0128 | 346 | c.231 others(365): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ERBB4_chr2_211370717_212543802 | 212060587 | T | TAAGAGTA others(339): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0010 | 1 | 56 | 0.0179 | 346 | c.234 others(365): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 2/27 | chr2 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1122207 | C | CTCTATCT others(339): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0062 | 1 | 162 | 0.0062 | 346 | c.156 others(365): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ESYT1_chr12_56123267_56149674 | 56124524 | T | TAAAAAAT others(339): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 370 | 0.0027 | 346 | c.-37 others(357): Show |
ESYT1 | ENSG00000139641.13 | transcript | ENST00000394048.10 | protein_coding | 3742 | chr12 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 519226 | C | CCACCGAG others(339): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03942.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0204a0001c0001t0001g0215a0001c0001t0022g0214 | 3 | 272 | 0.0110 | 346 | c.238 others(367): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 519226 | C | CCACCGAG others(339): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0167 | 1 | 272 | 0.0037 | 346 | c.238 others(367): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOG_chr3_38491340_38531303 | 38500143 | T | TAAAAAGT others(339): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 412 | 0.0024 | 346 | c.314 others(363): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FAM135B_chr8_138125023_138502261 | 138313722 | T | TAAGATAC others(339): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0074 | 1 | 212 | 0.0047 | 346 | c.78- others(361): Show |
FAM135B | ENSG00000147724.12 | transcript | ENST00000395297.6 | protein_coding | 2/19 | chr8 | TogoVar | ||||||
| FARS2_chr6_5256513_5776583 | 5525242 | T | TTGGTGTA others(339): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 170 | 0.0059 | 346 | c.905 others(365): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FBXL20_chr17_39247663_39406626 | 39249140 | T | TAAAACAC others(339): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0097 | 1 | 230 | 0.0044 | 346 | c.*12 others(359): Show |
FBXL20 | ENSG00000108306.13 | transcript | ENST00000264658.11 | protein_coding | 3522 | chr17 | TogoVar | ||||||
| FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(339): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121 | 1 | 370 | 0.0027 | 346 | c.*39 others(357): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | ||||||
| FRMPD3_chrX_107444652_107610251 | 107570243 | T | TGAAATGT others(339): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02809.hp2 others(5): Show |
a0001a0005 | a0001c0002a0005c0009 | a0001c0002t0002a0005c0009t0011 | a0001c0002t0002g0029a0001c0002t0002g0038a0001c0002t0002g0056others(5): Show | 8 | 183 | 0.0437 | 346 | c.129 others(365): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12332026 | A | ATATATAT others(339): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0018 | 1 | 174 | 0.0058 | 346 | c.42- others(365): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GABRG3_chr15_26966181_27546984 | 27307365 | A | ATAGGTTT others(339): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0060 | 1 | 92 | 0.0109 | 346 | c.271 others(365): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805198 | T | TGCAGGCC others(339): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 314 | 0.0032 | 346 | c.*10 others(357): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 912 | chr2 | TogoVar | ||||||
| GALNT17_chr7_71127144_71718599 | 71272976 | C | CACGATCA others(339): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0016 | 1 | 76 | 0.0132 | 346 | c.239 others(365): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT17_chr7_71127144_71718599 | 71272976 | C | CACGATCA others(339): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 76 | 0.0132 | 346 | c.239 others(365): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132244423 | T | TGGGGCTG others(339): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 | 1 | 183 | 0.0055 | 346 | c.107 others(365): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132244459 | C | CGGGGGCG others(339): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19063.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165a0001c0003t0001g0166 | 2 | 183 | 0.0109 | 346 | c.107 others(365): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132244630 | C | CGGGGGCG others(339): Show |
intron_variant | MODIFIER | NA19080.hp1 NA19080.hp2 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0002 | a0001c0003t0001g0123a0001c0012t0002g0179 | 2 | 183 | 0.0109 | 346 | c.107 others(365): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42625748 | T | TAAGATAT others(339): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 210 | 0.0048 | 346 | c.71- others(361): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GHR_chr5_42418439_42726878 | 42719833 | T | TGTTGTTT others(339): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG02015.hp2 HG02083.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0007a0004c0004t0012g0009a0004c0004t0012g0130others(1): Show | 4 | 210 | 0.0191 | 346 | c.*41 others(355): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 10/10 | 420 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(339): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0184 | 1 | 188 | 0.0053 | 346 | c.229 others(365): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
| GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(339): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02451.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0004a0002c0002t0004a0002c0002t0013others(1): Show | a0001c0001t0004g0022a0002c0002t0004g0035a0002c0002t0013g0027others(1): Show | 4 | 188 | 0.0213 | 346 | c.229 others(365): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63608418 | C | CCTGTGAC others(339): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0041 | 1 | 330 | 0.0030 | 346 | c.132 others(363): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77475028 | T | TCCAGTGT others(339): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0228 | 1 | 240 | 0.0042 | 346 | c.310 others(365): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar |