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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 99819332 | C | CCCCTCTT others(2746): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 64 | 0.0156 | 2753 | c.56- others(2766): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2746): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0027 | 1 | 11 | 0.0909 | 2753 | c.-16 others(2774): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
NCEH1_chr3_172625249_172716067 | 172685023 | T | TAGCGGCT others(2746): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0081 | 1 | 324 | 0.0031 | 2753 | c.138 others(2772): Show |
NCEH1 | ENSG00000144959.11 | transcript | ENST00000475381.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
RNF216_chr7_5615047_5786663 | 5655735 | T | TAAAATGT others(2746): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0241 | 1 | 267 | 0.0037 | 2753 | c.206 others(2772): Show |
RNF216 | ENSG00000011275.19 | transcript | ENST00000389902.8 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18552183 | T | TTAGAAAT others(2746): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 408 | 0.0025 | 2753 | c.199 others(2772): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2746): Show |
intron_variant | MODIFIER | HG01257.hp2 NA18747.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0051 a0003c0003t0002g0107 |
2 | 255 | 0.0078 | 2753 | c.989 others(2770): 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(2746): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18954.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0140 a0002c0002t0002g0242 |
2 | 255 | 0.0078 | 2753 | c.989 others(2770): 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(2746): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 254 | 0.0039 | 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 | a0001c0001t0002g0007 a0001c0001t0002g0073 |
2 | 235 | 0.0085 | 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 | a0002c0003t0002g0301 | 1 | 325 | 0.0031 | 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 | a0002c0003t0002g0069 a0002c0012t0002g0290 |
2 | 326 | 0.0061 | 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 | a0002c0003t0002g0288 a0002c0003t0002g0308 a0002c0003t0002g0320 others(3): Show |
6 | 330 | 0.0182 | 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 | a0002c0003t0002g0318 | 1 | 325 | 0.0031 | 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 | a0002c0003t0002g0273 | 1 | 325 | 0.0031 | 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 | 119 | 0.0084 | 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 | a0004c0005t0001g0051 | 1 | 371 | 0.0027 | 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 | a0001c0001t0005g0017 | 1 | 70 | 0.0143 | 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 | a0006 | a0006c0005 | a0006c0005t0018 | a0006c0005t0018g0028 | 1 | 47 | 0.0213 | 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 | 47 | 0.0213 | 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 | a0007c0006t0001g0148 | 1 | 146 | 0.0068 | 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 | 227 | 0.0044 | 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 | 106 | 0.0094 | 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 | 351 | 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 | a0001c0001t0009 | a0001c0001t0009g0234 | 1 | 338 | 0.0030 | 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 | 267 | 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 | a0001c0001t0002g0332 | 1 | 322 | 0.0031 | 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 | a0002c0002t0026g0314 a0003c0003t0002g0098 |
2 | 255 | 0.0078 | 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 | a0001c0006t0002g0093 | 1 | 254 | 0.0039 | 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 | a0001c0006t0002g0230 | 1 | 254 | 0.0039 | 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 | a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0002g0155 others(12): Show |
15 | 268 | 0.0560 | 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 | a0002c0002t0002g0237 | 1 | 254 | 0.0039 | 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 | 254 | 0.0039 | 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 | a0001c0001t0002g0166 | 1 | 254 | 0.0039 | 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 | a0001c0001t0001g0274 | 1 | 18 | 0.0556 | 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 | a0001c0001t0001g0097 | 1 | 18 | 0.0556 | 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 | 352 | 0.0028 | 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 |
a0003a0007 | a0003c0005a0007c0010 | a0003c0005t0002a0007c0010t0002 | a0003c0005t0002g0074 a0007c0010t0002g0002 |
3 | 236 | 0.0127 | 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 | a0002c0003t0002g0315 | 1 | 325 | 0.0031 | 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 | a0002c0003t0002g0289 | 1 | 325 | 0.0031 | 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 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0173 | 1 | 288 | 0.0035 | 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 | 266 | 0.0038 | 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 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0041 | 1 | 32 | 0.0313 | 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 | a0001c0001t0003g0208 a0001c0001t0003g0211 |
2 | 261 | 0.0077 | 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 | a0065 | a0065c0053 | a0065c0053t0026 | a0065c0053t0026g0011 | 1 | 32 | 0.0313 | 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 | a0002c0002t0016g0079 | 1 | 324 | 0.0031 | 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 | a0002c0002t0016g0082 | 1 | 324 | 0.0031 | 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 | 254 | 0.0039 | 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 | a0001c0001t0002g0007 a0002c0007t0002g0033 |
2 | 255 | 0.0078 | 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 | a0002c0002t0002g0120 | 1 | 254 | 0.0039 | 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 | 254 | 0.0039 | 2755 | c.989 others(2772): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |