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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 242540 | A | ACCTTCCT others(926): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0122 | 1 | 128 | 0.0078 | 933 | c.613 others(950): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46169626 | G | GCCCCTGC others(926): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02897.hp2 |
a0007 | a0007c0008 | a0007c0008t0012 | a0007c0008t0012g0186 a0007c0008t0012g0187 a0007c0008t0012g0188 |
3 | 246 | 0.0122 | 933 | c.194 others(948): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(926): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0059 | 1 | 149 | 0.0067 | 933 | c.*73 others(944): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(926): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 149 | 0.0067 | 933 | c.*73 others(944): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(926): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 149 | 0.0067 | 933 | c.*73 others(944): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(926): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 149 | 0.0067 | 933 | c.*73 others(944): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(926): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 149 | 0.0067 | 933 | c.*73 others(944): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(926): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046 | 2 | 286 | 0.0070 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(926): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 206 | 0.0049 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(926): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 206 | 0.0049 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(926): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18950.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 210 | 0.0238 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328682 | T | TGTGTGTG others(926): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 428 | 0.0023 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(926): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 2 | 263 | 0.0076 | 933 | c.199 others(950): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(926): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0205 | 1 | 99 | 0.0101 | 933 | c.392 others(950): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370151 | A | ATATGTGT others(926): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0359 | 1 | 424 | 0.0024 | 933 | c.-6- others(948): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(927): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0113 | 1 | 12 | 0.0833 | 934 | c.387 others(953): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(927): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0228 | 1 | 12 | 0.0833 | 934 | c.387 others(953): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(927): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0007 | a0003c0007t0010 | a0003c0007t0010g0003 | 1 | 30 | 0.0333 | 934 | c.505 others(953): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(927): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 112 | 0.0089 | 934 | c.48- others(951): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0219 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 NA18984.hp1 |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0003a0005c0005t0010a0005c0005t0029 | a0003c0003t0003g0048 a0005c0005t0010g0007 a0005c0005t0029g0002 |
3 | 114 | 0.0263 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0087 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0006 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0088 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0090 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02004.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0073 a0002c0002t0004g0077 |
2 | 113 | 0.0177 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(927): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0120 | 1 | 112 | 0.0089 | 934 | c.217 others(953): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757984 | T | TCACCTGC others(927): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0115 | 1 | 170 | 0.0059 | 934 | c.655 others(953): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(927): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0286 | 1 | 170 | 0.0059 | 934 | c.654 others(953): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AUTS2_chr7_69593475_70798506 | 70495778 | T | TCACACAC others(927): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0022 | 1 | 73 | 0.0137 | 934 | c.690 others(953): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(927): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 223 | 0.0045 | 934 | c.*36 others(945): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BCO2_chr11_112170512_112223946 | 112208430 | T | TTTTTTTT others(927): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 378 | 0.0026 | 934 | c.119 others(953): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(927): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0009 | a0009c0016 | a0009c0016t0006 | a0009c0016t0006g0113 | 1 | 308 | 0.0032 | 934 | c.300 others(951): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72114242 | T | TGGGAAGG others(927): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 97 | 0.0103 | 934 | c.245 others(951): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(927): Show |
intron_variant | MODIFIER | HG03927.hp1 HG04204.hp2 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0002a0002c0009t0031 | a0002c0005t0002g0060 a0002c0009t0031g0009 |
2 | 54 | 0.0370 | 934 | c.169 others(953): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(927): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0009 | a0009c0014 | a0009c0014t0007 | a0009c0014t0007g0006 | 1 | 4 | 0.2500 | 934 | c.342 others(953): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232039 | C | CCACCACT others(927): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 382 | 0.0026 | 934 | c.513 others(951): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008154 | G | GTCCCAAG others(927): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 220 | 0.0045 | 934 | c.319 others(949): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(927): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 279 | 0.0036 | 934 | c.-42 others(945): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948243 | G | GTGGTGAT others(927): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0027 | 1 | 129 | 0.0078 | 934 | c.47- others(951): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(927): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0047 | 1 | 10 | 0.1000 | 934 | c.310 others(949): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(927): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0141 | 1 | 10 | 0.1000 | 934 | c.310 others(949): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(927): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 13 | 0.0769 | 934 | c.978 others(951): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(927): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 5 | 0.2000 | 934 | c.-41 others(949): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(927): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0206 | 1 | 207 | 0.0048 | 934 | c.126 others(951): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507010 | T | TGTAGGGG others(927): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 226 | 0.0044 | 934 | c.624 others(951): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(927): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0045 | 1 | 6 | 0.1667 | 934 | c.368 others(951): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGC others(927): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0037 | 1 | 6 | 0.1667 | 934 | c.209 others(949): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(927): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 125 | 0.0080 | 934 | c.-49 others(945): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar |