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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA2_chr15_60342151_60402986 | 60349903 | C | CAGGGGAA others(911): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 334 | 0.0030 | 918 | c.838 others(933): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687405 | A | ACCCCGTG others(911): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 246 | 0.0041 | 918 | c.-18 others(929): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1560 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(911): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0154 | 1 | 246 | 0.0041 | 918 | c.-18 others(929): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105240774 | G | GCAGCCCC others(911): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 72 | 0.0139 | 918 | c.694 others(933): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099023 | C | CAGAGAGG others(911): Show |
intron_variant | MODIFIER | NA18951.hp1 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0258a0001c0002t0002g0259 | 2 | 326 | 0.0061 | 918 | c.-13 others(937): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2520147 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0046 | 1 | 104 | 0.0096 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG01496.hp2 HG03098.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0001c0015a0003c0027 | a0001c0001t0004a0001c0015t0034a0003c0027t0011 | a0001c0001t0004g0038a0001c0015t0034g0075a0003c0027t0011g0013 | 3 | 104 | 0.0289 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0001c0008a0003c0016 | a0001c0001t0015a0001c0008t0033a0003c0016t0011 | a0001c0001t0015g0030a0001c0008t0033g0051a0003c0016t0011g0082 | 3 | 104 | 0.0289 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01071.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(6): Show | a0001c0001t0002g0049a0001c0001t0002g0096a0001c0001t0004g0104others(11): Show | 14 | 104 | 0.1346 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0021 | a0001c0021t0027 | a0001c0021t0027g0087 | 1 | 104 | 0.0096 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0017a0001c0002t0001others(4): Show | a0001c0001t0004g0008a0001c0001t0017g0101a0001c0002t0001g0016others(6): Show | 9 | 104 | 0.0865 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520198 | A | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02273.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0038 | a0001c0002t0001g0043a0001c0008t0038g0044 | 2 | 104 | 0.0192 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520249 | C | ACCAATGG others(911): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0023 | a0003c0023t0011 | a0003c0023t0011g0048 | 1 | 104 | 0.0096 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2520259 | G | GTGTGCTT others(911): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03017.hp1 |
a0001 | a0001c0004a0001c0014 | a0001c0004t0010a0001c0014t0032 | a0001c0004t0010g0020a0001c0014t0032g0023 | 2 | 104 | 0.0192 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520300 | C | CCCAATGG others(911): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0029 | a0001c0029t0019 | a0001c0029t0019g0060 | 1 | 104 | 0.0096 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2520360 | C | CGTGTGCT others(911): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0024a0001c0003t0018 | a0001c0001t0024g0080a0001c0003t0018g0068 | 2 | 104 | 0.0192 | 918 | c.139 others(937): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1186005 | A | ACGGCGTG others(911): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 338 | 0.0030 | 918 | c.300 others(935): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC88C_chr14_91266323_91422820 | 91293470 | A | ACCTGCCA others(911): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0065 | a0001c0001t0001a0001c0001t0010a0001c0065t0001 | a0001c0001t0001g0243a0001c0001t0010g0269a0001c0001t0010g0270others(1): Show | 4 | 284 | 0.0141 | 918 | c.411 others(935): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(911): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0019 | a0019c0048 | a0019c0048t0008 | a0019c0048t0008g0246 | 1 | 284 | 0.0035 | 918 | c.411 others(935): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CDCA2_chr8_25454233_25512911 | 25465572 | A | ATCAAACT others(911): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02717.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0233a0001c0001t0001g0279others(3): Show | 6 | 326 | 0.0184 | 918 | c.388 others(933): Show |
CDCA2 | ENSG00000184661.14 | transcript | ENST00000330560.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45501058 | G | GGGGGTGT others(911): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0005 | a0005c0036 | a0005c0036t0001 | a0005c0036t0001g0245 | 1 | 292 | 0.0034 | 918 | c.268 others(937): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(911): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0035 | a0035c0055 | a0035c0055t0002 | a0035c0055t0002g0069 | 1 | 170 | 0.0059 | 918 | c.101 others(937): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(911): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 208 | 0.0048 | 918 | c.282 others(937): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(911): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0146a0004c0005t0001g0191 | 2 | 208 | 0.0096 | 918 | c.282 others(937): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(911): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 208 | 0.0048 | 918 | c.282 others(937): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(911): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 366 | 0.0027 | 918 | c.666 others(935): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179a0001c0001t0001g0180a0001c0001t0001g0190 | 3 | 314 | 0.0096 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0097 | 1 | 314 | 0.0032 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(120): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(8): Show | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0148others(120): Show | 123 | 314 | 0.3917 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0037 | 1 | 314 | 0.0032 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0104 | 1 | 314 | 0.0032 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(911): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 314 | 0.0032 | 918 | c.310 others(933): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
HS3ST6_chr16_1906475_1923415 | 1920388 | A | AGTCCCCA others(911): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 NA19043.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0045a0004c0006t0001g0057 | 2 | 433 | 0.0046 | 918 | c.-20 others(929): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 1974 | chr16 | TogoVar | ||||||
HS3ST6_chr16_1906475_1923415 | 1920388 | A | AGTCCCCA others(911): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0004 | a0004c0019 | a0004c0019t0003 | a0004c0019t0003g0046 | 1 | 433 | 0.0023 | 918 | c.-20 others(929): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 1974 | chr16 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322304 | A | AATATATA others(911): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 323 | 0.0031 | 918 | c.-27 others(929): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2665 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163370 | C | CTCCCTCC others(911): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0215 | 1 | 282 | 0.0036 | 918 | c.258 others(935): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(911): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 114 | 0.0088 | 918 | c.56- others(935): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(911): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0014 | 1 | 114 | 0.0088 | 918 | c.56- others(935): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(911): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02080.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0013a0005c0008t0001 | a0001c0001t0013g0066a0005c0008t0001g0108 | 2 | 114 | 0.0175 | 918 | c.56- others(935): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(911): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02280.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0039a0003c0002t0001g0040 | 2 | 186 | 0.0108 | 918 | c.956 others(935): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(911): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0262 | 1 | 284 | 0.0035 | 918 | c.126 others(935): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(911): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0009 | a0009c0026 | a0009c0026t0002 | a0009c0026t0002g0067 | 1 | 288 | 0.0035 | 918 | c.483 others(933): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(911): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 194 | 0.0052 | 918 | c.-12 others(937): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAGGTT others(911): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0004 | a0004c0022 | a0004c0022t0001 | a0004c0022t0001g0222 | 1 | 274 | 0.0037 | 918 | c.224 others(937): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AAAGGGAG others(911): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 250 | 0.0040 | 918 | c.225 others(935): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532188 | T | TCGGCAGA others(911): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 322 | 0.0031 | 918 | c.*46 others(929): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2866 | chr18 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150101 | C | CCACACCC others(911): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0203 | 1 | 294 | 0.0034 | 918 | c.902 others(933): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCTCCTCT others(911): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 326 | 0.0031 | 918 | c.433 others(935): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(911): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0004 | a0004c0042 | a0004c0042t0001 | a0004c0042t0001g0107 | 1 | 308 | 0.0033 | 918 | c.371 others(935): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325263 | T | TGAGTGAG others(911): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0061 | 1 | 398 | 0.0025 | 918 | c.194 others(935): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar |