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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2746): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 322 | 0.0031 | 2753 | c.989 others(2770): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2746): Show |
intron_variant | MODIFIER | HG03491.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0072 | 2 | 312 | 0.0064 | 2753 | c.796 others(2768): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2746): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0306 | 1 | 386 | 0.0026 | 2753 | c.138 others(2772): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2746): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18947.hp2 |
a0002 | a0002c0003a0002c0012 | a0002c0003t0002a0002c0012t0002 | a0002c0003t0002g0060a0002c0012t0002g0295 | 2 | 386 | 0.0052 | 2753 | c.138 others(2772): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2746): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp2 HG03017.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0021a0002c0003t0029 | a0002c0003t0002g0293a0002c0003t0002g0313a0002c0003t0002g0325others(3): Show | 6 | 386 | 0.0155 | 2753 | c.138 others(2772): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2746): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0323 | 1 | 386 | 0.0026 | 2753 | c.138 others(2772): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2746): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0278 | 1 | 386 | 0.0026 | 2753 | c.138 others(2772): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344420 | G | GTGTGTGT others(2747): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 268 | 0.0037 | 2754 | c.62+ others(2767): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2747): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0049 | 1 | 418 | 0.0024 | 2754 | c.96+ others(2769): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105238500 | G | GTCGCCCA others(2747): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 72 | 0.0139 | 2754 | c.694 others(2771): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2747): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0028 | 1 | 66 | 0.0152 | 2754 | c.56- others(2767): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2747): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0030 | 1 | 66 | 0.0152 | 2754 | c.56- others(2767): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2747): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0149 | 1 | 274 | 0.0037 | 2754 | c.127 others(2773): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2747): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 314 | 0.0032 | 2754 | c.-25 others(2771): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2747): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 368 | 0.0027 | 2754 | c.353 others(2771): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2747): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 358 | 0.0028 | 2754 | c.339 others(2771): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
REEP5_chr5_112871385_112927227 | 112912649 | G | GGACCATA others(2747): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0245 | 1 | 340 | 0.0029 | 2754 | c.212 others(2771): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
RNF216_chr7_5615047_5786663 | 5655735 | T | TAAAATGT others(2747): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0242 | 1 | 274 | 0.0037 | 2754 | c.206 others(2773): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(2747): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 376 | 0.0027 | 2754 | c.101 others(2773): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18970.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0026a0003c0003t0002 | a0002c0002t0026g0314a0003c0003t0002g0101 | 2 | 322 | 0.0062 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0092 | 1 | 322 | 0.0031 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0225 | 1 | 322 | 0.0031 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0002a0001c0014t0002a0002c0002t0002others(3): Show | a0001c0001t0002g0108a0001c0001t0002g0125a0001c0001t0002g0174others(12): Show | 15 | 322 | 0.0466 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0232 | 1 | 322 | 0.0031 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0064 | 1 | 322 | 0.0031 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2747): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 322 | 0.0031 | 2754 | c.989 others(2771): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2747): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 378 | 0.0027 | 2754 | c.372 others(2769): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2747): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 378 | 0.0027 | 2754 | c.372 others(2769): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2747): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2754 | c.*32 others(2765): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2747): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01256.hp2 HG01258.hp1 others(1): Show |
a0003a0007 | a0003c0005a0007c0010 | a0003c0005t0002a0007c0010t0002 | a0003c0005t0002g0070a0003c0005t0002g0073a0007c0010t0002g0002 | 4 | 312 | 0.0128 | 2754 | c.796 others(2769): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2747): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0320 | 1 | 386 | 0.0026 | 2754 | c.138 others(2773): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2747): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0294 | 1 | 386 | 0.0026 | 2754 | c.138 others(2773): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2748): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0174 | 1 | 418 | 0.0024 | 2755 | c.96+ others(2770): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
CLEC16A_chr16_10939564_11187186 | 11139019 | T | TAAGGCAA others(2748): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 274 | 0.0037 | 2755 | c.264 others(2776): Show |
CLEC16A | ENSG00000038532.17 | transcript | ENST00000409790.6 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2748): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0041 | 1 | 66 | 0.0152 | 2755 | c.56- others(2768): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DYNC2I1_chr7_158851558_158951189 | 158915958 | G | GTGGTTGA others(2748): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214a0001c0001t0003g0217 | 2 | 274 | 0.0073 | 2755 | c.179 others(2774): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2748): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0096 | a0096c0053 | a0096c0053t0026 | a0096c0053t0026g0011 | 1 | 292 | 0.0034 | 2755 | c.218 others(2770): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172685023 | T | TAGCGGCT others(2748): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0078 | 1 | 332 | 0.0030 | 2755 | c.138 others(2774): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
NCEH1_chr3_172625249_172716067 | 172685023 | T | TAGCGGCT others(2748): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0081 | 1 | 332 | 0.0030 | 2755 | c.138 others(2774): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 322 | 0.0031 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0002c0007t0002 | a0001c0001t0002g0007a0002c0007t0002g0033 | 2 | 322 | 0.0062 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 | 1 | 322 | 0.0031 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0254 | 1 | 322 | 0.0031 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 322 | 0.0031 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2748): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03471.hp1 NA18941.hp1 |
a0001a0002a0005 | a0001c0006a0002c0002a0005c0005 | a0001c0006t0002a0002c0002t0002a0005c0005t0002 | a0001c0006t0002g0087a0002c0002t0002g0270a0005c0005t0002g0113 | 3 | 322 | 0.0093 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2748): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18942.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0078others(1): Show | 4 | 378 | 0.0106 | 2755 | c.372 others(2770): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2748): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 378 | 0.0027 | 2755 | c.372 others(2770): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2748): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0088 | 1 | 312 | 0.0032 | 2755 | c.796 others(2770): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2748): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0084 | 1 | 312 | 0.0032 | 2755 | c.796 others(2770): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCTGC others(2748): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0007 | 1 | 312 | 0.0032 | 2755 | c.796 others(2770): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |