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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(839): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0307 | 1 | 308 | 0.0033 | 846 | c.371 others(863): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166217 | G | GTAATGCT others(839): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0007 | a0001c0007t0109 | a0001c0007t0109g0147 | 1 | 210 | 0.0048 | 846 | c.347 others(865): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLG_chr15_89311320_89339824 | 89325057 | A | AGAGTGAG others(839): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 398 | 0.0025 | 846 | c.194 others(863): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGCATGAC others(839): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18940.hp1 |
a0002 | a0002c0004 | a0002c0004t0002a0002c0004t0010 | a0002c0004t0002g0186a0002c0004t0010g0153 | 2 | 340 | 0.0059 | 846 | c.227 others(863): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(839): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0157 | 1 | 340 | 0.0029 | 846 | c.227 others(863): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3181692 | G | GGTCTTAC others(839): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 |
a0001 | a0001c0012 | a0001c0012t0009 | a0001c0012t0009g0113a0001c0012t0009g0193 | 2 | 210 | 0.0095 | 846 | c.38- others(861): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(839): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0164 | 1 | 220 | 0.0046 | 846 | c.24+ others(863): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(839): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0126 | 1 | 220 | 0.0046 | 846 | c.24+ others(863): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130641462 | A | ATCACGGG others(839): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0013 | a0005c0013t0003 | a0005c0013t0003g0141 | 1 | 180 | 0.0056 | 846 | c.-35 others(867): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(839): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 160 | 0.0063 | 846 | c.389 others(867): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(839): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 160 | 0.0063 | 846 | c.389 others(867): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744371 | G | GAGCACAG others(839): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0146 | 1 | 196 | 0.0051 | 846 | c.655 others(863): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RUSC2_chr9_35485111_35566895 | 35495159 | T | TTTTATAT others(839): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 322 | 0.0031 | 846 | c.-93 others(863): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(839): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp2 others(4): Show |
a0004a0006 | a0004c0012a0006c0026a0006c0027 | a0004c0012t0002a0004c0012t0005a0004c0012t0007others(3): Show | a0004c0012t0002g0074a0004c0012t0005g0137a0004c0012t0005g0139others(4): Show | 7 | 314 | 0.0223 | 846 | c.916 others(863): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(839): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 322 | 0.0031 | 846 | c.597 others(863): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(839): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0112 | 1 | 322 | 0.0031 | 846 | c.597 others(863): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628458 | A | ACGGGGTG others(839): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0142 | 1 | 352 | 0.0028 | 846 | c.299 others(863): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(839): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0285 | 1 | 352 | 0.0028 | 846 | c.299 others(863): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377397 | G | GCCCCCAC others(839): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0097 | 1 | 370 | 0.0027 | 846 | c.-14 others(857): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1372 | chr19 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161650 | G | GACCCCTG others(839): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0096 | 1 | 388 | 0.0026 | 846 | c.*25 others(857): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2278 | chr11 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0014 | a0014c0064 | a0014c0064t0001 | a0014c0064t0001g0120 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG01496.hp1 others(4): Show |
a0001a0023 | a0001c0012a0023c0050 | a0001c0012t0001a0001c0012t0004a0023c0050t0004 | a0001c0012t0001g0157a0001c0012t0001g0189a0001c0012t0001g0364others(4): Show | 7 | 398 | 0.0176 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(92): Show |
a0001a0002a0004others(5): Show | a0001c0009a0001c0015a0001c0057others(13): Show | a0001c0009t0001a0001c0015t0001a0001c0057t0001others(20): Show | a0001c0009t0001g0107a0001c0009t0001g0137a0001c0009t0001g0139others(92): Show | 95 | 398 | 0.2387 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0016 | a0016c0062 | a0016c0062t0004 | a0016c0062t0004g0001 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0323 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0368 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18522.hp1 |
a0002a0013 | a0002c0045a0013c0036 | a0002c0045t0003a0013c0036t0004 | a0002c0045t0003g0077a0013c0036t0004g0003 | 2 | 398 | 0.0050 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 |
a0002a0028 | a0002c0001a0028c0049 | a0002c0001t0002a0028c0049t0003 | a0002c0001t0002g0130a0028c0049t0003g0002 | 2 | 398 | 0.0050 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0104 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TJP3_chr19_3703384_3755813 | 3742670 | T | TGGTGGCT others(839): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0391 | 1 | 398 | 0.0025 | 846 | c.184 others(865): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121748026 | G | GGTAGAAG others(839): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0074 | 1 | 314 | 0.0032 | 846 | c.189 others(861): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8466718 | A | AGGTGGTG others(839): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 271 | 0.0037 | 846 | c.*33 others(855): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 209 | chrX | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(840): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 286 | 0.0035 | 847 | c.539 others(860): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(840): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0171 | 1 | 246 | 0.0041 | 847 | c.-16 others(858): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCCGTG others(840): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 246 | 0.0041 | 847 | c.-18 others(858): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | ||||||
AVL9_chr7_32490489_32593726 | 32586357 | T | TGGGAGGT others(840): Show |
3_prime_UTR_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0271 | 1 | 330 | 0.0030 | 847 | c.*24 others(858): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 16/16 | 2468 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(840): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 847 | c.-70 others(856): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185607 | G | GGGCCGGG others(840): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0047 | a0047c0082 | a0047c0082t0003 | a0047c0082t0003g0072 | 1 | 338 | 0.0030 | 847 | c.300 others(864): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(840): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0122 | 1 | 214 | 0.0047 | 847 | c.92+ others(864): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(840): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0023 | 1 | 252 | 0.0040 | 847 | c.-29 others(858): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(840): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0252 | 1 | 270 | 0.0037 | 847 | c.162 others(868): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(840): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 |
a0002a0003 | a0002c0015a0003c0012 | a0002c0015t0002a0003c0012t0002 | a0002c0015t0002g0317a0003c0012t0002g0316 | 2 | 344 | 0.0058 | 847 | c.85- others(864): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(840): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0299 | 1 | 396 | 0.0025 | 847 | c.513 others(862): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(840): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 396 | 0.0025 | 847 | c.513 others(862): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(840): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 396 | 0.0025 | 847 | c.513 others(862): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20075553 | C | CGAGACCA others(840): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0001 | 1 | 419 | 0.0024 | 847 | c.-51 others(858): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 4687 | chr22 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522750 | A | ACCCAGCC others(840): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0013 | a0003c0008t0013g0244 | 1 | 358 | 0.0028 | 847 | c.236 others(866): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DSC1_chr18_31124236_31167856 | 31152938 | T | TTGCAAGT others(840): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 378 | 0.0027 | 847 | c.627 others(864): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31152938 | T | TTGCAAGT others(840): Show |
intron_variant | MODIFIER | NA18944.hp1 NA19085.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0194a0001c0004t0001g0239 | 2 | 378 | 0.0053 | 847 | c.627 others(864): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31152938 | T | TTGCAAGT others(840): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(114): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0018a0002c0002others(5): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(9): Show | a0001c0004t0001g0026a0001c0004t0001g0152a0001c0004t0001g0170others(96): Show | 117 | 378 | 0.3095 | 847 | c.627 others(864): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 5/15 | chr18 | TogoVar |