view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(825): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0354 | 1 | 285 | 0.0035 | 832 | c.666 others(849): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(825): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 285 | 0.0035 | 832 | c.666 others(849): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925820 | A | ATGGATGG others(825): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0324 | 1 | 318 | 0.0031 | 832 | c.666 others(849): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925861 | A | ATGGATGG others(825): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0073 | 1 | 322 | 0.0031 | 832 | c.666 others(849): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925861 | A | ATGGATGG others(825): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0005 | a0002c0005t0036 | a0002c0005t0036g0170 | 1 | 322 | 0.0031 | 832 | c.666 others(849): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(825): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0004a0001c0002t0009others(1): Show | a0001c0001t0011g0027 a0001c0002t0004g0032 a0001c0002t0009g0009 others(1): Show |
4 | 37 | 0.1081 | 832 | c.55+ others(851): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(825): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0012a0001c0002t0002others(10): Show | a0001c0001t0008g0075 a0001c0001t0012g0008 a0001c0002t0002g0042 others(11): Show |
14 | 47 | 0.2979 | 832 | c.55+ others(851): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471437 | T | TTATGTAT others(825): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 240 | 0.0042 | 832 | c.125 others(849): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198004765 | A | ACATCTAT others(825): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0022 | 1 | 202 | 0.0050 | 832 | c.131 others(851): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364766 | G | GCTTACAT others(825): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0112 | 1 | 273 | 0.0037 | 832 | c.129 others(849): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(825): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01975.hp1 HG01981.hp1 others(5): Show |
a0001a0002 | a0001c0007a0002c0016 | a0001c0007t0002a0001c0007t0019a0002c0016t0002 | a0001c0007t0002g0064 a0001c0007t0002g0136 a0001c0007t0002g0201 others(5): Show |
8 | 15 | 0.5333 | 832 | c.115 others(849): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877256 | G | GCTTATGG others(825): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0146 | 1 | 265 | 0.0038 | 832 | c.224 others(851): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(825): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 8 | 0.1250 | 832 | c.250 others(847): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(825): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0060 | 1 | 353 | 0.0028 | 832 | c.-7- others(845): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTACCCC others(825): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0024 | 2 | 354 | 0.0056 | 832 | c.-7- others(845): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTATCCC others(825): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 353 | 0.0028 | 832 | c.-7- others(845): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTATCCC others(825): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 353 | 0.0028 | 832 | c.-7- others(845): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(825): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 210 | 0.0048 | 832 | c.-5+ others(847): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(825): Show |
intron_variant | MODIFIER | HG02280.hp2 NA19064.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 a0002c0002t0001g0263 |
2 | 277 | 0.0072 | 832 | c.195 others(849): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(825): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0171 | 1 | 4 | 0.2500 | 832 | c.279 others(847): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(825): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0167 | 1 | 4 | 0.2500 | 832 | c.279 others(847): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(825): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0170 | 1 | 4 | 0.2500 | 832 | c.279 others(847): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(825): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0186 | 1 | 4 | 0.2500 | 832 | c.279 others(847): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949090 | G | GGCCTCCT others(825): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 128 | 0.0078 | 832 | c.360 others(851): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(825): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02976.hp2 |
a0001 | a0001c0009 | a0001c0009t0003a0001c0009t0011 | a0001c0009t0003g0201 a0001c0009t0011g0205 |
2 | 122 | 0.0164 | 832 | c.201 others(849): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(825): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 a0001c0002t0001g0168 a0001c0002t0001g0170 |
5 | 125 | 0.0400 | 832 | c.201 others(849): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(825): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 a0001c0001t0002g0314 |
2 | 32 | 0.0625 | 832 | c.*27 others(843): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(825): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0026 | 1 | 338 | 0.0030 | 832 | c.*16 others(843): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(825): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02886.hp2 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0026 a0002c0005t0005g0103 |
2 | 339 | 0.0059 | 832 | c.*16 others(843): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTATCCC others(825): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 338 | 0.0030 | 832 | c.*16 others(843): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTATCCC others(825): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 338 | 0.0030 | 832 | c.*16 others(843): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88713207 | C | CCGAGAGC others(825): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0027a0074 | a0027c0034a0074c0136 | a0027c0034t0019a0074c0136t0013 | a0027c0034t0019g0192 a0074c0136t0013g0011 |
2 | 275 | 0.0073 | 832 | c.*23 others(843): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2130 | chr16 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483442 | C | CCCTCCCT others(825): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 54 | 0.0185 | 832 | c.-31 others(849): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(825): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03654.hp2 |
a0001 | a0001c0002a0001c0041 | a0001c0002t0001a0001c0041t0010 | a0001c0002t0001g0092 a0001c0041t0010g0093 |
2 | 3 | 0.6667 | 832 | c.-12 others(851): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678994 | G | GATGGGAA others(825): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0074 | a0001c0003t0074g0073 | 1 | 144 | 0.0069 | 832 | c.257 others(851): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203465 | A | AGAGAGAG others(825): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 | 1 | 146 | 0.0068 | 832 | c.*81 others(843): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3708 | chr8 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852526 | T | TCTCACCC others(825): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03041.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0012 a0001c0008t0001g0022 |
2 | 214 | 0.0093 | 832 | c.646 others(849): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(825): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 219 | 0.0046 | 832 | c.*73 others(843): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772609 | T | TATATATG others(825): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 36 | 0.0278 | 832 | c.62+ others(847): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273665 | A | ACACATCA others(825): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18952.hp2 NA18975.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 a0001c0003t0001g0272 |
3 | 375 | 0.0080 | 832 | c.228 others(851): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 360211 | T | TGACAGTC others(825): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0010 | a0003c0010t0044 | a0003c0010t0044g0138 | 1 | 361 | 0.0028 | 832 | c.*19 others(843): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1535 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 361651 | G | GGCTGGTT others(825): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0009 | a0005c0009t0008 | a0005c0009t0008g0123 | 1 | 347 | 0.0029 | 832 | c.*54 others(841): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 95 | chr19 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(825): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0264 | 1 | 264 | 0.0038 | 832 | c.189 others(849): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437763 | C | CCCCATCA others(825): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0326 | 1 | 340 | 0.0029 | 832 | c.141 others(851): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(825): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0197 |
2 | 150 | 0.0133 | 832 | c.129 others(849): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(825): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 149 | 0.0067 | 832 | c.129 others(849): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237126 | G | GAGGGAGA others(825): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 221 | 0.0045 | 832 | c.375 others(845): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236756800 | T | AATAGAGT others(826): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 194 | 0.0052 | 833 | c.215 others(850): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236756923 | C | CGCTGCCA others(826): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00609.hp2 others(31): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0003a0001c0003t0003a0001c0003t0021others(2): Show | a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 others(31): Show |
34 | 338 | 0.1006 | 833 | c.215 others(850): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140344 | G | GGCCAGCC others(826): Show |
intron_variant | MODIFIER | HG02602.hp2 NA18951.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0129 a0002c0002t0002g0128 |
2 | 155 | 0.0129 | 833 | c.217 others(852): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |