| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(729): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0196 | 1 | 270 | 0.0037 | 736 | c.162 others(757): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATATATA others(729): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02965.hp2 |
a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0069a0007c0010t0003g0070 | 2 | 264 | 0.0076 | 736 | c.181 others(755): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(729): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03710.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0244 | 3 | 448 | 0.0067 | 736 | c.51+ others(751): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978290 | A | ATATTTAT others(729): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0094 | 1 | 94 | 0.0106 | 736 | c.-2+ others(753): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(729): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0036 | 1 | 167 | 0.0060 | 736 | c.646 others(751): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
| CTNND2_chr5_10966836_11909446 | 11143969 | C | CCTACCAT others(729): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0013 | 2 | 26 | 0.0769 | 736 | c.215 others(757): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 12/21 | chr5 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(729): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0068 | 1 | 88 | 0.0114 | 736 | c.158 others(753): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400354 | T | TCCCACCA others(729): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19005.hp1 |
a0017 | a0017c0023 | a0017c0023t0005 | a0017c0023t0005g0207a0017c0023t0005g0208 | 2 | 256 | 0.0078 | 736 | c.323 others(755): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EEF1A2_chr20_63483014_63504083 | 63486901 | A | ACCCTGAC others(729): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 374 | 0.0027 | 736 | c.*13 others(747): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1112 | chr20 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTCCACCC others(729): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0060 | 1 | 374 | 0.0027 | 736 | c.*13 others(747): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTTCCCCC others(729): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 374 | 0.0027 | 736 | c.*13 others(747): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355621 | G | GGAGGAAG others(729): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 82 | 0.0122 | 736 | c.757 others(751): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(729): Show |
intron_variant | MODIFIER | HG00639.hp1 HG04115.hp1 |
a0001a0016 | a0001c0002a0016c0033 | a0001c0002t0001a0016c0033t0002 | a0001c0002t0001g0049a0016c0033t0002g0164 | 2 | 230 | 0.0087 | 736 | c.126 others(753): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(729): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0062 | 1 | 230 | 0.0044 | 736 | c.126 others(753): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(729): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0149 | 1 | 230 | 0.0044 | 736 | c.126 others(753): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(729): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0184 | 1 | 208 | 0.0048 | 736 | c.-97 others(753): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(729): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0015 | 1 | 282 | 0.0036 | 736 | c.684 others(749): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(729): Show |
intron_variant | MODIFIER | HG03654.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0027 | a0001c0001t0001g0068a0001c0002t0027g0191 | 2 | 282 | 0.0071 | 736 | c.737 others(755): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| GRM4_chr6_34013643_34151087 | 34073265 | C | CCCCACAC others(729): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03834.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0010 | a0001c0003t0003g0010a0001c0003t0010g0273 | 2 | 282 | 0.0071 | 736 | c.737 others(755): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834641 | C | CCTGGACT others(729): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 394 | 0.0025 | 736 | c.128 others(751): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48835291 | G | GAGGTGCT others(729): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 394 | 0.0025 | 736 | c.127 others(751): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(729): Show |
intron_variant | MODIFIER | NA18612.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122a0001c0001t0002g0256 | 2 | 282 | 0.0071 | 736 | c.290 others(755): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(729): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019 | 1 | 282 | 0.0036 | 736 | c.290 others(755): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163272 | C | CCCTCCCT others(729): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0171 | 1 | 282 | 0.0036 | 736 | c.258 others(753): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(729): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308a0001c0001t0001g0309a0001c0001t0001g0310 | 3 | 312 | 0.0096 | 736 | c.-41 others(751): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LAIR1_chr19_54346384_54369931 | 54349677 | A | AGGGTGAA others(729): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 HG03139.hp1 |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0005c0008t0048 | a0001c0003t0001g0075a0005c0008t0048g0145 | 2 | 462 | 0.0043 | 736 | c.*55 others(747): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1706 | chr19 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(729): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 290 | 0.0035 | 736 | c.129 others(753): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364477 | C | CCACCCTT others(729): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0281 | 1 | 290 | 0.0035 | 736 | c.129 others(753): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(729): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0067 | a0067c0080 | a0067c0080t0002 | a0067c0080t0002g0214 | 1 | 292 | 0.0034 | 736 | c.218 others(751): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(729): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 272 | 0.0037 | 736 | c.250 others(751): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| NKAIN2_chr6_123798865_124830640 | 124687566 | T | TATATTCC others(729): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0024a0001c0001t0019g0021 | 2 | 66 | 0.0303 | 736 | c.474 others(755): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| NMRK2_chr19_3928069_3947416 | 3937930 | A | ACCCTCCT others(729): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 404 | 0.0025 | 736 | c.166 others(751): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(729): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0060 | 2 | 439 | 0.0046 | 736 | c.-15 others(747): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811228 | C | CCTTCCCT others(729): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 178 | 0.0056 | 736 | c.773 others(751): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585602 | C | CCTTTCCA others(729): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0247 | 1 | 279 | 0.0036 | 736 | c.215 others(753): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585602 | C | CCTTTCCA others(729): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19240.hp2 |
a0006 | a0006c0008 | a0006c0008t0004a0006c0008t0010 | a0006c0008t0004g0178a0006c0008t0010g0068 | 2 | 279 | 0.0072 | 736 | c.215 others(753): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585602 | C | CCTTTCCA others(729): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 NA18906.hp1 |
a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0080a0006c0008t0004g0081a0006c0008t0004g0121 | 3 | 279 | 0.0108 | 736 | c.215 others(753): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(729): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 279 | 0.0036 | 736 | c.215 others(753): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PJA2_chr5_109329722_109414974 | 109353955 | G | GTCTATGA others(729): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0061 | 1 | 346 | 0.0029 | 736 | c.176 others(755): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(729): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0160 | 1 | 250 | 0.0040 | 736 | c.309 others(755): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLEKHA4_chr19_48832097_48873617 | 48834641 | C | CCTGGACT others(729): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 300 | 0.0033 | 736 | c.*26 others(747): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2455 | chr19 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48835291 | G | GAGGTGCT others(729): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0008 | 1 | 300 | 0.0033 | 736 | c.*19 others(747): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 1805 | chr19 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977668 | C | CCAACCCC others(729): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0010 | a0010c0037 | a0010c0037t0004 | a0010c0037t0004g0096 | 1 | 422 | 0.0024 | 736 | c.*30 others(747): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1804 | chr1 | TogoVar | ||||||
| PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(729): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0181 | 1 | 272 | 0.0037 | 736 | c.-12 others(757): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(729): Show |
intron_variant | MODIFIER | HG03209.hp1 NA21309.hp2 |
a0001 | a0001c0008a0001c0018 | a0001c0008t0005a0001c0018t0003 | a0001c0008t0005g0037a0001c0018t0003g0030 | 2 | 62 | 0.0323 | 736 | c.88+ others(755): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(729): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0217 | 1 | 304 | 0.0033 | 736 | c.66+ others(751): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RBPMS_chr8_30379541_30577256 | 30388644 | C | CTAACTTA others(729): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 304 | 0.0033 | 736 | c.66+ others(751): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(729): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0003 | a0003c0016a0003c0017 | a0003c0016t0001a0003c0017t0001 | a0003c0016t0001g0207a0003c0017t0001g0206 | 2 | 312 | 0.0064 | 736 | c.188 others(755): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289928 | C | CCGTGTCT others(729): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 290 | 0.0035 | 736 | c.166 others(753): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(729): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011 | 1 | 370 | 0.0027 | 736 | c.284 others(755): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar |