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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2043): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01346.hp2 HG01433.hp1 others(7): Show |
a0002a0005a0009others(1): Show | a0002c0005a0005c0020a0005c0041others(2): Show | a0002c0005t0010a0002c0005t0017a0002c0005t0021others(4): Show | a0002c0005t0010g0089 a0002c0005t0010g0093 a0002c0005t0010g0094 others(7): Show |
10 | 53 | 0.1887 | 2050 | c.108 others(2067): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2043): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 44 | 0.0227 | 2050 | c.108 others(2067): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2043): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 50 | 0.0200 | 2050 | c.147 others(2067): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2043): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 294 | 0.0034 | 2050 | c.147 others(2067): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(2043): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0142 | 1 | 229 | 0.0044 | 2050 | c.411 others(2067): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2043): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0237 | 1 | 232 | 0.0043 | 2050 | c.228 others(2067): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2043): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0290 | 1 | 288 | 0.0035 | 2050 | c.-49 others(2061): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4751 | chr4 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2043): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0146 | 1 | 295 | 0.0034 | 2050 | c.522 others(2065): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2043): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 295 | 0.0034 | 2050 | c.522 others(2065): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(2043): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 | 1 | 295 | 0.0034 | 2050 | c.522 others(2065): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(2043): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0022 | 1 | 5 | 0.2000 | 2050 | c.297 others(2067): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2043): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0142 | 1 | 250 | 0.0040 | 2050 | c.112 others(2067): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2044): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 50 | 0.0200 | 2051 | c.147 others(2068): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2044): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0324 | 1 | 195 | 0.0051 | 2051 | c.648 others(2068): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2044): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 195 | 0.0051 | 2051 | c.648 others(2068): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2044): Show |
intron_variant | MODIFIER | HG02965.hp2 NA19063.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0191 a0001c0002t0007g0229 |
2 | 196 | 0.0102 | 2051 | c.648 others(2068): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2044): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0023 | a0023c0059 | a0023c0059t0001 | a0023c0059t0001g0095 | 1 | 13 | 0.0769 | 2051 | c.354 others(2070): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2044): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0055 | 1 | 69 | 0.0145 | 2051 | c.*52 others(2062): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(2044): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 96 | 0.0104 | 2051 | c.119 others(2070): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(2044): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0128 | a0002c0128t0002 | a0002c0128t0002g0095 | 1 | 126 | 0.0079 | 2051 | c.193 others(2070): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586449 | C | CGGGGGGG others(2044): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0037 | 1 | 244 | 0.0041 | 2051 | c.157 others(2068): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242603 | C | CCACACCC others(2044): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006a0001c0016others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0016t0001others(1): Show | a0001c0001t0001g0072 a0001c0006t0001g0073 a0001c0006t0001g0078 others(5): Show |
8 | 171 | 0.0468 | 2051 | c.107 others(2070): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242603 | C | CCACACCC others(2044): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0077 | 1 | 164 | 0.0061 | 2051 | c.107 others(2070): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(2044): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 NA18906.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0019 | 3 | 19 | 0.1579 | 2051 | c.125 others(2068): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2044): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 32 | 0.0313 | 2051 | c.218 others(2066): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(2044): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0100 | 1 | 82 | 0.0122 | 2051 | c.147 others(2068): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2044): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0127 | 1 | 167 | 0.0060 | 2051 | c.126 others(2070): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414429 | G | ACACTGGG others(2044): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0272 a0001c0001t0006g0216 |
2 | 371 | 0.0054 | 2051 | c.115 others(2068): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132706868 | C | CAAAAGAA others(2044): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19082.hp1 |
a0009 | a0009c0009 | a0009c0009t0003 | a0009c0009t0003g0053 | 2 | 357 | 0.0056 | 2051 | c.341 others(2068): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763769 | C | CCTCTTGT others(2045): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0005 | a0005c0020 | a0005c0020t0045 | a0005c0020t0045g0133 | 1 | 215 | 0.0047 | 2052 | c.108 others(2069): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763773 | T | TTGTCCAC others(2045): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 215 | 0.0047 | 2052 | c.108 others(2069): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2045): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 50 | 0.0200 | 2052 | c.147 others(2069): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2045): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0183 | 1 | 195 | 0.0051 | 2052 | c.648 others(2069): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2045): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG01515.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0194 a0001c0001t0002g0221 a0001c0001t0002g0225 others(9): Show |
12 | 206 | 0.0583 | 2052 | c.648 others(2069): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2045): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0190 | 1 | 195 | 0.0051 | 2052 | c.648 others(2069): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
B4GALT1_chr9_33105642_33172336 | 33130550 | T | TTCAATAT others(2045): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01257.hp1 HG02165.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007a0001c0002t0012others(3): Show | a0001c0001t0002g0230 a0001c0002t0007g0180 a0001c0002t0007g0181 others(13): Show |
16 | 210 | 0.0762 | 2052 | c.648 others(2069): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2045): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0223 | 1 | 2 | 0.5000 | 2052 | c.126 others(2069): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0244 | 1 | 8 | 0.1250 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(76): Show |
a0001a0003a0004 | a0001c0001a0001c0009a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0021 others(49): Show |
79 | 86 | 0.9186 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 8 | 0.1250 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 8 | 0.1250 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(12): Show |
20 | 27 | 0.7407 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 8 | 0.1250 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 8 | 0.1250 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 2 | 9 | 0.2222 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0014 a0001c0001t0001g0061 a0001c0001t0001g0062 others(2): Show |
7 | 14 | 0.5000 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
FAM163B_chr9_133572081_133614389 | 133588612 | C | CTGAAGGA others(2045): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02055.hp2 others(19): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0016 a0001c0001t0003g0046 a0001c0001t0003g0065 others(14): Show |
22 | 29 | 0.7586 | 2052 | c.-23 others(2069): Show |
FAM163B | ENSG00000196990.10 | transcript | ENST00000673969.1 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(2045): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 154 | 0.0065 | 2052 | c.360 others(2071): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(2045): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 150 | 0.0067 | 2052 | c.655 others(2069): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(2045): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0053 | a0001c0053t0057 | a0001c0053t0057g0235 | 1 | 192 | 0.0052 | 2052 | c.89- others(2065): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar |