| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(226): Show |
upstream_gene_variant | MODIFIER | NA19087.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0001 | a0001c0001t0002g0186a0001c0013t0001g0094 | 2 | 384 | 0.0052 | 233 | c.-41 others(244): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(226): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 384 | 0.0026 | 233 | c.-41 others(244): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | |||||||
| NCS1_chr9_130167404_130242303 | 130221881 | A | AATATAAA others(226): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0129a0001c0001t0006g0131 | 2 | 348 | 0.0058 | 233 | c.308 others(248): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NEGR1_chr1_71390943_72287539 | 71793264 | A | ATATATAT others(226): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 64 | 0.0156 | 233 | c.410 others(252): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241807023 | A | ACCCTCCC others(226): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 319 | 0.0031 | 233 | c.-22 others(244): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2169 | chr2 | TogoVar | |||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(226): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 316 | 0.0032 | 233 | c.133 others(254): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(226): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0074 | 1 | 362 | 0.0028 | 233 | c.-75 others(252): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NGEF_chr2_232873701_233018256 | 232995389 | C | CTGTATAC others(226): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0252 | 1 | 362 | 0.0028 | 233 | c.-75 others(252): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
| NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(226): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0174 | 1 | 440 | 0.0023 | 233 | c.319 others(248): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
| NPIPB13_chr16_30217897_30253479 | 30224220 | C | CGGCAGGT others(226): Show |
frameshift_variant others(1): Show |
HIGH | HG02683.hp2 | a0049 | a0049c0021 | a0049c0021t0001 | a0049c0021t0001g0040 | 1 | 145 | 0.0069 | 233 | c.222 others(242): Show |
p.Val others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4968/6292 | 2225/3417 | 742/1138 | chr16 | TogoVar | |||
| NPIPB13_chr16_30217897_30253479 | 30224831 | C | CGGCAGGT others(226): Show |
frameshift_variant | HIGH | HG02683.hp2 | a0049 | a0049c0021 | a0049c0021t0001 | a0049c0021t0001g0040 | 1 | 145 | 0.0069 | 233 | c.161 others(242): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4357/6292 | 1614/3417 | 538/1138 | chr16 | TogoVar | |||
| NRXN2_chr11_64601174_64728197 | 64706162 | A | ATATATAA others(226): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 308 | 0.0033 | 233 | c.730 others(250): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NUP210L_chr1_153987690_154160073 | 154047230 | T | TAAAAATA others(226): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02896.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108a0001c0006t0001g0109 | 2 | 290 | 0.0069 | 233 | c.348 others(250): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 25/39 | chr1 | TogoVar | |||||||
| NUTM2F_chr9_94313198_94333644 | 94313318 | A | ATAATATA others(226): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 322 | 0.0031 | 233 | c.*51 others(244): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4879 | chr9 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841437 | A | AGCAGGTC others(226): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 242 | 0.0041 | 233 | c.361 others(252): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841443 | T | TCCCCCCT others(226): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 242 | 0.0041 | 233 | c.361 others(252): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(226): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 242 | 0.0041 | 233 | c.361 others(252): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| OR10R2_chr1_158467220_158485936 | 158473774 | T | TCCTCCCT others(226): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0070 | 1 | 446 | 0.0022 | 233 | c.27+ others(248): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(226): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 HG01433.hp2 HG02293.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 6 | 426 | 0.0141 | 233 | c.*33 others(244): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | |||||||
| OR2T12_chr1_248285139_248308424 | 248306558 | C | CCTGAGCG others(226): Show |
upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | 233 | c.-34 others(244): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3135 | chr1 | TogoVar | |||||||
| OR4F17_chr19_102104_118156 | 107958 | T | TTATAATA others(226): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 227 | 0.0044 | 233 | c.-55 others(248): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(226): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 302 | 0.0033 | 233 | c.155 others(250): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
| PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(226): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0022 | a0022c0027 | a0022c0027t0009 | a0022c0027t0009g0292 | 1 | 308 | 0.0033 | 233 | c.226 others(252): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PARD3_chr10_34104561_34820296 | 34605524 | C | CTATATAT others(226): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 100 | 0.0100 | 233 | c.223 others(252): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(226): Show |
upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0100 | 1 | 336 | 0.0030 | 233 | c.-37 others(244): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(226): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0130 | 1 | 336 | 0.0030 | 233 | c.-37 others(244): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
| PHKA1_chrX_72573814_72719306 | 72681898 | A | AGGGGGGG others(226): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 237 | 0.0042 | 233 | c.537 others(250): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 5/31 | chrX | TogoVar | |||||||
| PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(226): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0087 | 1 | 346 | 0.0029 | 233 | c.176 others(252): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
| PKD2L1_chr10_100283149_100335228 | 100314983 | G | GGGAAGGG others(226): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0243 | 2 | 306 | 0.0065 | 233 | c.349 others(252): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
| PKP3_chr11_389209_409908 | 401443 | C | CGGACCCG others(226): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03492.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0165a0001c0003t0001g0166 | 2 | 216 | 0.0093 | 233 | c.173 others(250): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401443 | C | CGGCCCCG others(226): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 216 | 0.0046 | 233 | c.173 others(250): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401443 | C | CGGCCCCG others(226): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01943.hp1 HG01943.hp2 others(12): Show |
a0001a0010a0019 | a0001c0002a0001c0003a0001c0016others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0016t0001others(3): Show | a0001c0002t0001g0105a0001c0002t0001g0133a0001c0002t0001g0176others(12): Show | 15 | 216 | 0.0694 | 233 | c.173 others(250): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401443 | C | CGGCCCCG others(226): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0017a0001c0010t0003g0018 | 2 | 216 | 0.0093 | 233 | c.173 others(250): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401443 | C | CGGCCCCG others(226): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02074.hp1 HG03017.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141a0001c0002t0001g0143a0001c0002t0001g0144others(1): Show | 4 | 216 | 0.0185 | 233 | c.173 others(250): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 175594 | T | TGCACCCC others(226): Show |
intron_variant | MODIFIER | HG03139.hp1 HG06807.hp1 |
a0001 | a0001c0036a0001c0051 | a0001c0036t0077a0001c0051t0078 | a0001c0036t0077g0149a0001c0051t0078g0148 | 2 | 210 | 0.0095 | 233 | c.440 others(252): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PRDM15_chr21_41793225_41884344 | 41806689 | C | CCACCACC others(226): Show |
intron_variant | MODIFIER | HG01981.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0003 | 2 | 406 | 0.0049 | 233 | c.265 others(252): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
| PRDM15_chr21_41793225_41884344 | 41845132 | G | GACACACA others(226): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0282 | 1 | 406 | 0.0025 | 233 | c.640 others(250): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 6/23 | chr21 | TogoVar | |||||||
| PRIMPOL_chr4_184644738_184699952 | 184676452 | T | TCTCCCTT others(226): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01258.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0086others(12): Show | 15 | 328 | 0.0457 | 233 | c.845 others(250): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151855127 | C | CCTCCACA others(226): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 252 | 0.0040 | 233 | c.114 others(252): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
| PYM1_chr12_55896413_55932894 | 55905876 | T | TTAGATAT others(226): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 344 | 0.0029 | 233 | c.38- others(248): Show |
PYM1 | ENSG00000170473.17 | transcript | ENST00000408946.7 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 458501 | C | CCACAGGG others(226): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0036 | 1 | 295 | 0.0034 | 233 | c.715 others(250): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(226): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0045 | 1 | 295 | 0.0034 | 233 | c.715 others(250): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(226): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0036a0001c0001t0005g0281 | 3 | 452 | 0.0066 | 233 | c.757 others(248): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| RBCK1_chr20_403299_437139 | 420671 | C | CTCCATCC others(226): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0364 | 1 | 452 | 0.0022 | 233 | c.757 others(248): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | chr20 | TogoVar | |||||||
| RER1_chr1_2386841_2410436 | 2401360 | C | CTCCCTCC others(226): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 354 | 0.0028 | 233 | c.365 others(248): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43280957 | T | TTGGCCAC others(226): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0059 | 1 | 280 | 0.0036 | 233 | c.484 others(252): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
| SCUBE1_chr22_43192280_43348372 | 43281314 | T | TTGGCCAC others(226): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0003a0001c0003t0064a0002c0005t0001 | a0001c0003t0003g0001a0001c0003t0064g0167a0002c0005t0001g0131 | 4 | 280 | 0.0143 | 233 | c.484 others(250): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
| SEMA5A_chr5_9030033_9551075 | 9353241 | A | AAAGGAAA others(226): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0030 | 1 | 134 | 0.0075 | 233 | c.125 others(252): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401321 | G | GCCCCGCT others(226): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 242 | 0.0041 | 233 | c.*45 others(244): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4394 | chr11 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401378 | C | CCCCGGCC others(226): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 242 | 0.0041 | 233 | c.*45 others(244): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4337 | chr11 | TogoVar |