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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(285): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0071 | 1 | 218 | 0.0046 | 292 | c.40+ others(307): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(285): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19070.hp1 |
a0001a0037 | a0001c0001a0037c0068 | a0001c0001t0005a0037c0068t0005 | a0001c0001t0005g0075 a0037c0068t0005g0076 |
2 | 219 | 0.0091 | 292 | c.40+ others(307): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(285): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02027.hp2 NA18947.hp2 others(1): Show |
a0001a0003a0014 | a0001c0001a0001c0070a0003c0003others(1): Show | a0001c0001t0005a0001c0070t0001a0003c0003t0006others(1): Show | a0001c0001t0005g0077 a0001c0070t0001g0061 a0003c0003t0006g0079 others(1): Show |
4 | 221 | 0.0181 | 292 | c.40+ others(307): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZFPM1_chr16_88448280_88542031 | 88461013 | G | GGCGGGGC others(285): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0128 | 1 | 315 | 0.0032 | 292 | c.40+ others(307): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370753 | T | TACATCAT others(285): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 HG03239.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0080 |
2 | 341 | 0.0059 | 292 | c.-37 others(303): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3615 | chr10 | TogoVar | |||||||
ZNF81_chrX_47831902_47930627 | 47912089 | T | TTTTTTTT others(285): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp1 HG02486.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0005 a0002c0002t0004g0018 a0002c0002t0004g0019 others(4): Show |
8 | 220 | 0.0364 | 292 | c.278 others(309): Show |
ZNF81 | ENSG00000197779.15 | transcript | ENST00000338637.13 | protein_coding | 4/4 | chrX | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(285): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 59 | 0.0169 | 292 | c.532 others(307): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(285): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0140 |
3 | 61 | 0.0492 | 292 | c.532 others(307): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173171 | T | TCCACCCC others(286): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0044 | 1 | 322 | 0.0031 | 293 | c.61+ others(308): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACOD1_chr13_76943511_76963638 | 76961647 | T | TAAAAAGC others(286): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 397 | 0.0025 | 293 | c.*36 others(304): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 3010 | chr13 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73915264 | A | AATCCCAG others(286): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0351 a0001c0001t0001g0354 others(20): Show |
24 | 404 | 0.0594 | 293 | c.805 others(308): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73915264 | A | AATCCCAG others(286): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0003t0001others(2): Show | a0001c0001t0005g0371 a0001c0001t0007g0036 a0001c0003t0001g0392 others(7): Show |
10 | 390 | 0.0256 | 293 | c.805 others(308): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(286): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 300 | 0.0033 | 293 | c.401 others(310): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(286): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0030 | 1 | 300 | 0.0033 | 293 | c.401 others(310): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111307 | C | CCTCCCTC others(286): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0034 | 1 | 326 | 0.0031 | 293 | c.401 others(310): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318187 | A | ACCCTGCA others(286): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 a0001c0001t0003g0260 |
2 | 64 | 0.0313 | 293 | c.-36 others(304): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3526 | chr5 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38570972 | T | TATATATT others(286): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 150 | 0.0067 | 293 | c.70- others(310): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AP1AR_chr4_112226787_112278110 | 112256035 | T | TAAAAATG others(286): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0171 | 1 | 394 | 0.0025 | 293 | c.159 others(310): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
API5_chr11_43306996_43349529 | 43310873 | A | AATATATA others(286): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 34 | 0.0294 | 293 | c.-12 others(304): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 1122 | chr11 | TogoVar | |||||||
ARFGEF2_chr20_48916711_49041693 | 48959479 | C | CCTTCCCT others(286): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 80 | 0.0125 | 293 | c.839 others(310): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | chr20 | TogoVar | |||||||
ARHGAP40_chr20_38596809_38655653 | 38653257 | G | GTGTTGGT others(286): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0233 | 1 | 314 | 0.0032 | 293 | c.*34 others(304): Show |
ARHGAP40 | ENSG00000124143.11 | transcript | ENST00000373345.9 | protein_coding | 2605 | chr20 | TogoVar | |||||||
ARHGEF7_chr13_111110310_111310732 | 111221375 | A | ATATGTCT others(286): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0205 | 1 | 266 | 0.0038 | 293 | c.670 others(310): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 5 | 0.2000 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18962.hp2 |
a0001a0003 | a0001c0005a0003c0007 | a0001c0005t0001a0003c0007t0011 | a0001c0005t0001g0087 a0003c0007t0011g0106 |
2 | 6 | 0.3333 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0110 | 1 | 5 | 0.2000 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0101 | 1 | 5 | 0.2000 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0113 | 1 | 5 | 0.2000 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(286): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0084 | 1 | 5 | 0.2000 | 293 | c.39+ others(310): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(286): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0003t0001g0008 |
5 | 300 | 0.0167 | 293 | c.*36 others(304): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 374863 | G | GGGAGGGA others(286): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0009 | a0009c0012 | a0009c0012t0003 | a0009c0012t0003g0023 | 1 | 182 | 0.0055 | 293 | c.784 others(308): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1441860 | C | CCCCCATT others(286): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0254 | 1 | 357 | 0.0028 | 293 | c.414 others(308): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145624 | T | TATATAAT others(286): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 358 | 0.0028 | 293 | c.*39 others(304): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3381 | chr22 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404388 | G | GACGGGTC others(286): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0161 | 1 | 277 | 0.0036 | 293 | c.*27 others(304): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1056 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404709 | A | ATGGGGTC others(286): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 217 | 0.0046 | 293 | c.*23 others(304): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 735 | chr19 | TogoVar | |||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CACACTTC others(286): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 43 | 0.0233 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CACCCACA others(286): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 43 | 0.0233 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACA others(286): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 43 | 0.0233 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACA others(286): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(102): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(14): Show |
105 | 147 | 0.7143 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACA others(286): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 43 | 0.0233 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACA others(286): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 others(11): Show |
87 | 129 | 0.6744 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515291 | C | CATCCACA others(286): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(64): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(7): Show |
67 | 109 | 0.6147 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515296 | A | ACACTTCC others(286): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02300.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 448 | 0.0067 | 293 | c.79+ others(306): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | chr8 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2572370 | C | CCTCTTCC others(286): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0004 | a0004c0034a0004c0039 | a0004c0034t0009a0004c0039t0009 | a0004c0034t0009g0041 a0004c0039t0009g0040 |
2 | 6 | 0.3333 | 293 | c.189 others(312): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(286): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02004.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0037 a0002c0003t0001g0054 |
2 | 63 | 0.0317 | 293 | c.100 others(312): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
CAP1_chr1_40035729_40077648 | 40059014 | T | TTGCAAAT others(286): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0184 | 1 | 302 | 0.0033 | 293 | c.-10 others(308): Show |
CAP1 | ENSG00000131236.18 | transcript | ENST00000372805.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181462 | C | CACACCCA others(286): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 372 | 0.0027 | 293 | c.193 others(310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182285 | C | CCACACTC others(286): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02300.hp2 HG02738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
11 | 177 | 0.0621 | 293 | c.193 others(310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182285 | C | CCACACTC others(286): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 168 | 0.0119 | 293 | c.193 others(310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182285 | C | CCACACTC others(286): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01167.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0045 others(1): Show |
6 | 172 | 0.0349 | 293 | c.193 others(310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182324 | C | CACAACCA others(286): Show |
intron_variant | MODIFIER | HG00544.hp1 HG03710.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0010 a0001c0001t0005g0001 a0001c0001t0005g0009 |
3 | 383 | 0.0078 | 293 | c.193 others(310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |