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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(781): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0178 | 1 | 322 | 0.0031 | 788 | c.4-1 others(801): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(781): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 322 | 0.0031 | 788 | c.4-1 others(801): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(782): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0168 | 2 | 337 | 0.0059 | 789 | c.61+ others(804): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156060 | C | CCCATCAT others(782): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0154 | 1 | 350 | 0.0029 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156068 | C | CCATTCAT others(782): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0064 | 1 | 350 | 0.0029 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(782): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0075 | 1 | 350 | 0.0029 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(782): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0064others(17): Show | a0001c0001t0003g0060a0001c0001t0013g0087a0001c0001t0064g0220others(61): Show | 66 | 350 | 0.1886 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(782): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0151 | 1 | 350 | 0.0029 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(782): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0145 | 1 | 350 | 0.0029 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45156162 | T | CCCATCCA others(782): Show |
intron_variant | MODIFIER | HG00733.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0038 | a0001c0002t0001g0084a0001c0002t0038g0048 | 2 | 350 | 0.0057 | 789 | c.-47 others(808): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | chr21 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(782): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0186 | 1 | 214 | 0.0047 | 789 | c.565 others(806): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(782): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18977.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0040a0001c0002t0002g0153 | 2 | 204 | 0.0098 | 789 | c.223 others(810): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500533 | A | AGGGTGTG others(782): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02615.hp1 others(10): Show |
a0001a0004 | a0001c0001a0001c0011a0001c0017others(5): Show | a0001c0001t0001a0001c0011t0001a0001c0017t0003others(5): Show | a0001c0001t0001g0025a0001c0001t0001g0149a0001c0001t0001g0150others(10): Show | 13 | 292 | 0.0445 | 789 | c.268 others(808): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098126 | T | TATAAAAA others(782): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 264 | 0.0038 | 789 | c.181 others(808): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(782): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 426 | 0.0024 | 789 | c.-84 others(798): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(782): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0022 | a0002c0022t0036 | a0002c0022t0036g0048 | 1 | 126 | 0.0079 | 789 | c.415 others(810): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232165 | T | TACCCGCC others(782): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 396 | 0.0025 | 789 | c.513 others(804): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99923639 | C | CGTTGAAT others(782): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 288 | 0.0035 | 789 | c.190 others(808): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | chr14 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(782): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02922.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0002a0001c0005t0002 | a0001c0003t0002g0004a0001c0003t0002g0052a0001c0005t0002g0049 | 3 | 374 | 0.0080 | 789 | c.-51 others(800): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(782): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0003 | 1 | 138 | 0.0073 | 789 | c.123 others(810): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(782): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 138 | 0.0073 | 789 | c.123 others(810): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(782): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0008 | a0008c0055 | a0008c0055t0001 | a0008c0055t0001g0079 | 1 | 174 | 0.0058 | 789 | c.193 others(808): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGTCTC others(782): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 2 | 400 | 0.0050 | 789 | c.-5+ others(802): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(782): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 282 | 0.0036 | 789 | c.684 others(802): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(782): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0035a0001c0001t0001g0061a0001c0001t0001g0092others(24): Show | 27 | 282 | 0.0957 | 789 | c.684 others(802): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(782): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 274 | 0.0037 | 789 | c.804 others(806): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(782): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 312 | 0.0032 | 789 | c.-41 others(804): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(782): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0084 | 1 | 386 | 0.0026 | 789 | c.-46 others(800): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997207 | T | TGGGGGCG others(782): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 375 | 0.0027 | 789 | c.-22 others(800): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 463 | chr6 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(782): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 789 | c.-27 others(800): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(782): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 2 | 370 | 0.0054 | 789 | c.-27 others(800): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471471 | A | ATATTTTA others(782): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 260 | 0.0039 | 789 | c.125 others(806): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(782): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 260 | 0.0039 | 789 | c.125 others(806): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(782): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01884.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0018a0002c0002t0001g0134a0002c0002t0003g0129 | 3 | 318 | 0.0094 | 789 | c.-49 others(800): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(782): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0008 | a0008c0058 | a0008c0058t0003 | a0008c0058t0003g0050 | 1 | 278 | 0.0036 | 789 | c.115 others(806): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(782): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 388 | 0.0026 | 789 | c.159 others(806): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OR11H4_chr14_20234286_20249349 | 20237635 | C | CTATATAT others(782): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 439 | 0.0023 | 789 | c.-17 others(800): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1650 | chr14 | TogoVar | ||||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0152 | 1 | 228 | 0.0044 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02451.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0091a0001c0005t0008g0092a0001c0005t0008g0093others(2): Show | 5 | 228 | 0.0219 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG03516.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0001a0002c0002t0007g0002a0002c0002t0007g0003others(2): Show | 5 | 228 | 0.0219 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03453.hp1 HG03471.hp2 |
a0002 | a0002c0002 | a0002c0002t0037a0002c0002t0038a0002c0002t0039 | a0002c0002t0037g0150a0002c0002t0038g0126a0002c0002t0039g0151 | 3 | 228 | 0.0132 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(87): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0002c0002others(1): Show | a0001c0003t0004a0001c0003t0006a0001c0003t0010others(20): Show | a0001c0003t0004g0119a0001c0003t0004g0128a0001c0003t0004g0222others(87): Show | 90 | 228 | 0.3947 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391140 | C | CTGTAATC others(782): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0125 | 1 | 228 | 0.0044 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHACTR4_chr1_28364740_28505364 | 28391165 | C | CGAGGTGG others(782): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02451.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0026a0002c0002t0030 | a0002c0002t0003g0144a0002c0002t0003g0158a0002c0002t0003g0170others(9): Show | 12 | 228 | 0.0526 | 789 | c.-38 others(808): Show |
PHACTR4 | ENSG00000204138.13 | transcript | ENST00000373839.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(782): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0164 | 1 | 250 | 0.0040 | 789 | c.328 others(808): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RBBP8_chr18_22928328_23031486 | 23022671 | A | AATAAAAT others(782): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0185 | 1 | 330 | 0.0030 | 789 | c.259 others(806): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | chr18 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(782): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0027 | 1 | 203 | 0.0049 | 789 | c.-12 others(808): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 432986 | T | TAGATGGC others(782): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0037 | 1 | 212 | 0.0047 | 789 | c.111 others(808): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | ||||||
SLC16A3_chr17_82224042_82245086 | 82227685 | C | CACCACCC others(782): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 410 | 0.0024 | 789 | c.-14 others(800): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1356 | chr17 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(782): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 350 | 0.0029 | 789 | c.624 others(804): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar |