| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DIP2B_chr12_50499985_50753657 | 50593744 | T | TCCTCTCC others(163): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0046 | 2 | 284 | 0.0070 | 170 | c.101 others(189): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 608180 | A | AGCCCCCC others(163): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0084 | 1 | 88 | 0.0114 | 170 | c.85+ others(187): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 785566 | C | CCCTCCCC others(163): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | 170 | c.18+ others(187): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DNAH10_chr12_123757301_123940714 | 123912111 | T | TGGGGGGG others(163): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0036 | 1 | 170 | 0.0059 | 170 | c.101 others(189): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| DNAH17_chr17_78418697_78582396 | 78541132 | G | GTGAGCGG others(163): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0009 | a0009c0140 | a0009c0140t0001 | a0009c0140t0001g0071 | 1 | 252 | 0.0040 | 170 | c.253 others(189): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78541139 | G | GGGTGGGG others(163): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0010 | a0010c0090 | a0010c0090t0001 | a0010c0090t0001g0039 | 1 | 252 | 0.0040 | 170 | c.253 others(189): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947606 | T | TTGGTGGT others(163): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0045 | 1 | 136 | 0.0074 | 170 | c.47- others(187): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOCK1_chr10_126900428_127457516 | 126947906 | T | TTGGTGGT others(163): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0051 | a0004c0051t0003 | a0004c0051t0003g0026 | 1 | 136 | 0.0074 | 170 | c.47- others(187): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOP1A_chr6_83062671_83173471 | 83145181 | G | GTATATAT others(163): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 298 | 0.0034 | 170 | c.554 others(187): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137566520 | T | TGTGAGGA others(163): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 340 | 0.0029 | 170 | c.641 others(187): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DUSP8_chr11_1549051_1577271 | 1551118 | T | TCCATCCA others(163): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(66): Show | 153 | 367 | 0.4169 | 170 | c.*53 others(181): Show |
DUSP8 | ENSG00000184545.11 | transcript | ENST00000397374.8 | protein_coding | 2932 | chr11 | TogoVar | ||||||
| DYNC1LI1_chr3_32520974_32575858 | 32538010 | T | TATATATA others(163): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02572.hp1 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0007 | a0001c0004t0002g0287a0001c0004t0007g0286 | 2 | 336 | 0.0060 | 170 | c.739 others(185): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | ||||||
| EIF3A_chr10_119028670_119085817 | 119078890 | C | CGAACACA others(163): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 350 | 0.0029 | 170 | c.49+ others(185): Show |
EIF3A | ENSG00000107581.14 | transcript | ENST00000369144.8 | protein_coding | 1/21 | chr10 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084188 | T | TATATGTG others(163): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0110 | 1 | 338 | 0.0030 | 170 | c.221 others(189): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELP1_chr9_108862517_108939124 | 108900756 | A | ACACACAC others(163): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0228 | 1 | 416 | 0.0024 | 170 | c.201 others(187): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 18/36 | chr9 | TogoVar | ||||||
| EPHB1_chr3_134790260_135265467 | 135192301 | A | AAAAACAA others(163): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0007a0001c0001t0012a0001c0004t0001others(1): Show | a0001c0001t0007g0027a0001c0001t0012g0076a0001c0004t0001g0022others(1): Show | 4 | 134 | 0.0299 | 170 | c.188 others(187): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| EPPK1_chr8_143852324_143883467 | 143878395 | C | CCCGCACC others(163): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0068 | a0068c0146 | a0068c0146t0003 | a0068c0146t0003g0213 | 1 | 424 | 0.0024 | 170 | c.-46 others(183): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| ERBB3_chr12_56075165_56108505 | 56091334 | A | ATATATAT others(163): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0039 | 1 | 392 | 0.0026 | 170 | c.111 others(189): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERRFI1_chr1_8006727_8031309 | 8026946 | A | ATGAGGGA others(163): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(110): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(31): Show | 113 | 402 | 0.2811 | 170 | c.-86 others(179): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 638 | chr1 | TogoVar | ||||||
| ERRFI1_chr1_8006727_8031309 | 8026946 | A | ATGAGGGA others(163): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | 170 | c.-86 others(179): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 638 | chr1 | TogoVar | ||||||
| EVI5_chr1_92503696_92790108 | 92529368 | T | TAGCAGTG others(163): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0042 | 1 | 168 | 0.0060 | 170 | c.216 others(191): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 19/19 | chr1 | TogoVar | ||||||
| EVPLL_chr17_18372778_18394647 | 18388032 | A | ATATATAT others(163): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0045 | 1 | 408 | 0.0025 | 170 | c.877 others(185): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137328951 | G | GCTACACG others(163): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 82 | 0.0122 | 170 | c.199 others(189): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137329456 | T | TACACAGG others(163): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0075 | 1 | 82 | 0.0122 | 170 | c.199 others(189): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 501566 | A | ATATATAT others(163): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 272 | 0.0037 | 170 | c.238 others(189): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515574 | A | AGTCCTAG others(163): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0154 | 1 | 272 | 0.0037 | 170 | c.238 others(191): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515574 | A | AGTCCTAG others(163): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02135.hp2 HG03017.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(5): Show | a0001c0001t0001g0049a0001c0001t0001g0120a0001c0001t0004g0143others(6): Show | 9 | 272 | 0.0331 | 170 | c.238 others(191): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 515691 | C | CGTAATCA others(163): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0022 | a0001c0022t0007 | a0001c0022t0007g0163 | 1 | 272 | 0.0037 | 170 | c.238 others(191): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 64295412 | A | AAGGAGAA others(163): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0005 | 1 | 24 | 0.0417 | 170 | c.619 others(191): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
| FAF2_chr5_176443385_176515074 | 176451879 | T | TATACACA others(163): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 372 | 0.0027 | 170 | c.63+ others(185): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FAM111B_chr11_59102237_59132412 | 59106681 | G | GCCGCCAG others(163): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009a0001c0001t0005g0017 | 3 | 414 | 0.0073 | 170 | c.-74 others(179): Show |
FAM111B | ENSG00000189057.11 | transcript | ENST00000343597.4 | protein_coding | 555 | chr11 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92631160 | T | TTACGTAT others(163): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0142 | 1 | 394 | 0.0025 | 170 | c.345 others(185): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM210A_chr18_13658347_13731558 | 13675079 | A | ATTATTTC others(163): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0011a0001c0001t0024others(1): Show | a0001c0001t0003g0013a0001c0001t0003g0014a0001c0001t0003g0110others(13): Show | 18 | 326 | 0.0552 | 170 | c.474 others(187): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | ||||||
| FBXL16_chr16_687500_710801 | 707647 | T | TCCACCTC others(163): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0120 | 1 | 372 | 0.0027 | 170 | c.-21 others(181): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1847 | chr16 | TogoVar | ||||||
| FBXL16_chr16_687500_710801 | 707711 | A | ACCCTCCA others(163): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 | 1 | 372 | 0.0027 | 170 | c.-22 others(181): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1911 | chr16 | TogoVar | ||||||
| FBXL16_chr16_687500_710801 | 707726 | C | CACCAGCT others(163): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 372 | 0.0027 | 170 | c.-22 others(181): Show |
FBXL16 | ENSG00000127585.13 | transcript | ENST00000397621.6 | protein_coding | 1926 | chr16 | TogoVar | ||||||
| FGD6_chr12_95071749_95222467 | 95148910 | A | ATATATAA others(163): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 384 | 0.0026 | 170 | c.268 others(189): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60860431 | T | TCATATGT others(163): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 46 | 0.0217 | 170 | c.-11 others(191): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27998891 | T | TTATATAT others(163): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 292 | 0.0034 | 170 | c.*51 others(181): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4382 | chr13 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180614208 | T | TGGTGGAT others(163): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00733.hp2 others(40): Show |
a0001a0002a0010others(2): Show | a0001c0009a0001c0023a0002c0002others(4): Show | a0001c0009t0001a0001c0023t0008a0002c0002t0001others(5): Show | a0001c0009t0001g0019a0001c0009t0001g0063a0001c0023t0008g0377others(39): Show | 43 | 388 | 0.1108 | 170 | c.322 others(185): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | ||||||
| FOLR1_chr11_72187140_72201299 | 72201298 | G | GTATACAC others(163): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 412 | 0.0024 | 170 | c.*51 others(181): Show |
FOLR1 | ENSG00000110195.14 | transcript | ENST00000393676.5 | protein_coding | 5000 | chr11 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71158113 | G | GAGGAAGG others(163): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0031 | a0001c0001t0012g0063a0001c0001t0031g0079 | 2 | 96 | 0.0208 | 170 | c.180 others(189): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 6/20 | chr3 | TogoVar | ||||||
| GABRG1_chr4_46030769_46129054 | 46117784 | G | GTATATAC others(163): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0021 | a0001c0002t0001g0257a0001c0002t0002g0084a0001c0002t0002g0104others(6): Show | 9 | 308 | 0.0292 | 170 | c.104 others(187): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| GABRG1_chr4_46030769_46129054 | 46118024 | A | ATATACAT others(163): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 308 | 0.0033 | 170 | c.104 others(187): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113836850 | G | GGGGGAGG others(163): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 143 | 0.0070 | 170 | c.590 others(187): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113836850 | G | GGGGGAGG others(163): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02293.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0063a0001c0001t0001g0099a0001c0001t0004g0141others(2): Show | 5 | 143 | 0.0350 | 170 | c.590 others(187): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63609073 | A | ACATCCAT others(163): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0041 | 1 | 330 | 0.0030 | 170 | c.132 others(187): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63609138 | C | CCCACACC others(163): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0131 | 1 | 330 | 0.0030 | 170 | c.132 others(187): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| GNG13_chr16_793041_805734 | 795580 | G | GCCCTTCT others(163): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0039 | 1 | 422 | 0.0024 | 170 | c.*31 others(181): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | ||||||
| GPHN_chr14_66503147_67186803 | 66683367 | T | TATATATA others(163): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 234 | 0.0043 | 170 | c.143 others(187): Show |
GPHN | ENSG00000171723.16 | transcript | ENST00000478722.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |