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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SETD7_chr4_139501038_139561219 | 139544290 | CTAAAATA others(8): Show |
C | intron_variant | MODIFIER | HG02155.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0274 |
2 | 145 | 0.0138 | -15 | c.170 others(32): Show |
SETD7 | ENSG00000145391.14 | transcript | ENST00000274031.8 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SETDB1_chr1_150921363_150969737 | 150923910 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 others(97): Show |
109 | 119 | 0.9160 | -15 | c.-26 others(26): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 2452 | chr1 | TogoVar | |||||||
SETX_chr9_132256356_132359986 | 132278437 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02257.hp2 others(7): Show |
a0002a0006a0019 | a0002c0002a0006c0007a0019c0025 | a0002c0002t0006a0006c0007t0005a0019c0025t0034 | a0002c0002t0006g0024 a0002c0002t0006g0028 a0002c0002t0006g0029 others(7): Show |
10 | 23 | 0.4348 | -15 | c.665 others(32): Show |
SETX | ENSG00000107290.14 | transcript | ENST00000224140.6 | protein_coding | 20/25 | chr9 | TogoVar | |||||||
SEZ6L2_chr16_29866159_29904550 | 29889614 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(44): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0010 | a0001c0001t0013a0003c0003t0002a0003c0003t0004others(3): Show | a0001c0001t0013g0120 a0003c0003t0002g0001 a0003c0003t0002g0011 others(26): Show |
47 | 143 | 0.3287 | -15 | c.854 others(30): Show |
SEZ6L2 | ENSG00000174938.15 | transcript | ENST00000617533.5 | protein_coding | 5/17 | chr16 | TogoVar | |||||||
SEZ6L_chr22_26164462_26388596 | 26304361 | AAAAGAAA others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0197 | 1 | 231 | 0.0043 | -15 | c.134 others(34): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26330250 | TCTGCTAT others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(77): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0155 others(77): Show |
80 | 238 | 0.3361 | -15 | c.201 others(36): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26356642 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(56): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0002g0054 others(56): Show |
59 | 71 | 0.8310 | -15 | c.259 others(34): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SF1_chr11_64759606_64783542 | 64760864 | TCACCCCA others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 340 | 0.0029 | -15 | c.*49 others(26): Show |
SF1 | ENSG00000168066.22 | transcript | ENST00000377390.8 | protein_coding | 3741 | chr11 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967677 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0010 | a0001c0003t0002g0012 a0001c0003t0010g0013 a0001c0003t0010g0014 others(1): Show |
4 | 8 | 0.5000 | -15 | c.137 others(32): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197413920 | CCTCAGCC others(8): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 342 | 0.0029 | -15 | c.666 others(32): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 6/24 | chr2 | TogoVar | |||||||
SF3B1_chr2_197384784_197440028 | 197418234 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 12 | 0.0833 | -15 | c.495 others(30): Show |
SF3B1 | ENSG00000115524.17 | transcript | ENST00000335508.11 | protein_coding | 5/24 | chr2 | TogoVar | |||||||
SF3B3_chr16_70518816_70582668 | 70525957 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0038 | a0001c0001t0037g0035 a0001c0001t0038g0034 |
2 | 276 | 0.0072 | -15 | c.-70 others(30): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31497655 | AAAGCTAG others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0020a0001c0035others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0130 a0001c0001t0001g0183 a0001c0001t0001g0210 others(192): Show |
195 | 320 | 0.6094 | -15 | c.-31 others(32): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31582219 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 320 | 0.0031 | -15 | c.124 others(34): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 12/32 | chr22 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52923874 | AAGAAAGT others(8): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp2 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 others(3): Show |
6 | 326 | 0.0184 | -15 | c.113 others(34): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 10/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 52949568 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00738.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 others(18): Show |
21 | 193 | 0.1088 | -15 | c.123 others(32): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014472 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02630.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(11): Show |
14 | 320 | 0.0438 | -15 | c.-13 others(36): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53014476 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0186 a0001c0001t0001g0322 a0001c0001t0002g0308 |
3 | 34 | 0.0882 | -15 | c.-13 others(36): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT1_chr3_52898572_53051073 | 53040968 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | NA19012.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0056 |
2 | 52 | 0.0385 | -15 | c.-13 others(34): Show |
SFMBT1 | ENSG00000163935.14 | transcript | ENST00000394752.8 | protein_coding | 1/20 | chr3 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7346988 | TCAAAACA others(8): Show |
T | intron_variant | MODIFIER | HG01517.hp2 HG01993.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0031 | a0001c0001t0001g0113 a0001c0001t0002g0057 a0001c0001t0031g0032 |
3 | 106 | 0.0283 | -15 | c.436 others(34): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
SFMBT2_chr10_7153624_7416034 | 7393019 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG03041.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0033others(2): Show | a0001c0001t0002g0039 a0001c0001t0004g0051 a0001c0001t0033g0070 others(2): Show |
5 | 142 | 0.0352 | -15 | c.-51 others(34): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
SFN_chr1_26858149_26869456 | 26868247 | TTTCTCTC others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 320 | 0.0031 | -15 | c.*42 others(26): Show |
SFN | ENSG00000175793.12 | transcript | ENST00000339276.6 | protein_coding | 3792 | chr1 | TogoVar | |||||||
SFPQ_chr1_35177936_35198145 | 35192804 | CGGCTGCT others(8): Show |
C | disruptive_inframe_deletion | MODERATE | NA19058.hp1 | a0006 | a0006c0013 | a0006c0013t0003 | a0006c0013t0003g0083 | 1 | 378 | 0.0026 | -15 | c.231 others(22): Show |
p.Pro others(11): Show |
SFPQ | ENSG00000116560.12 | transcript | ENST00000357214.6 | protein_coding | 1/10 | 341/3740 | 231/2124 | 77/707 | chr1 | TogoVar | |||
SFRP1_chr8_41256962_41314473 | 41290886 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0026others(2): Show | a0001c0001t0001g0199 a0001c0001t0010g0217 a0001c0001t0010g0218 others(5): Show |
8 | 131 | 0.0611 | -15 | c.622 others(34): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
SFRP1_chr8_41256962_41314473 | 41313346 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0068 a0001c0001t0001g0198 a0001c0001t0003g0107 others(5): Show |
8 | 131 | 0.0611 | -15 | c.-42 others(26): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 3874 | chr8 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131738885 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012a0001c0031 | a0001c0001t0002a0001c0012t0001a0001c0031t0001 | a0001c0001t0002g0019 a0001c0012t0001g0044 a0001c0012t0001g0045 others(1): Show |
4 | 34 | 0.1176 | -15 | c.108 others(36): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFSWAP_chr12_131706090_131804738 | 131739536 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 178 | 0.0056 | -15 | c.108 others(36): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SFTPB_chr2_85652314_85673199 | 85662840 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03471.hp1 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0072 a0002c0003t0009g0073 a0002c0003t0009g0078 |
3 | 299 | 0.0100 | -15 | c.100 others(32): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
SFTPB_chr2_85652314_85673199 | 85669441 | AGGCCATT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 424 | 0.0024 | -15 | c.-12 others(26): Show |
SFTPB | ENSG00000168878.19 | transcript | ENST00000519937.7 | protein_coding | 1243 | chr2 | TogoVar | |||||||
SFTPC_chr8_22156798_22169479 | 22166607 | AAGTGGCA others(8): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 464 | 0.0022 | -15 | c.*23 others(26): Show |
SFTPC | ENSG00000168484.13 | transcript | ENST00000679463.1 | protein_coding | 2129 | chr8 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175513294 | TGTAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0072 | 1 | 370 | 0.0027 | -15 | c.597 others(30): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SFXN1_chr5_175473560_175534742 | 175524122 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 332 | 0.0030 | -15 | c.872 others(32): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN5_chr2_72937036_73076712 | 73047236 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0248 | 1 | 248 | 0.0040 | -15 | c.172 others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SFXN5_chr2_72937036_73076712 | 73047238 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0005g0015 others(5): Show |
8 | 246 | 0.0325 | -15 | c.172 others(32): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
SGCA_chr17_50161005_50180928 | 50172797 | GTACGCTA others(8): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01071.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0015 a0001c0002t0002g0020 others(6): Show |
23 | 414 | 0.0556 | -15 | c.983 others(32): Show |
SGCA | ENSG00000108823.17 | transcript | ENST00000262018.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 4 | 0.2500 | -15 | c.34- others(28): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156444098 | CTCTCTCT others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0025 a0001c0001t0001g0116 a0001c0001t0025g0035 |
3 | 148 | 0.0203 | -15 | c.193 others(34): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156757263 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 18 | 0.0556 | -15 | c.576 others(30): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCE_chr7_94579980_94661133 | 94604844 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 388 | 0.0026 | -15 | c.663 others(32): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SGCE_chr7_94579980_94661133 | 94657925 | CAGCGCGC others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 388 | 0.0026 | -15 | c.-18 others(26): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 1793 | chr7 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23281341 | GTAATAAT others(8): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01071.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0073 a0001c0001t0002g0312 a0001c0001t0003g0168 others(17): Show |
20 | 74 | 0.2703 | -15 | c.505 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299409 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0349 | 1 | 352 | 0.0028 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23299429 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA18980.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0032 a0001c0001t0005g0122 |
2 | 352 | 0.0057 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23299431 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01934.hp2 NA19002.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0001 | a0001c0001t0001g0207 a0001c0001t0018g0256 a0001c0002t0001g0233 |
3 | 352 | 0.0085 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23299433 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01081.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0047 others(26): Show |
29 | 343 | 0.0845 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23299435 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02723.hp2 NA18747.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0186 a0001c0001t0002g0232 a0001c0002t0001g0056 others(2): Show |
5 | 346 | 0.0145 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23299437 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 343 | 0.0029 | -15 | c.578 others(32): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCG_chr13_23175979_23330162 | 23324653 | TCCAGAGG others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02486.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0008a0001c0003t0016a0001c0004t0008others(1): Show | a0001c0003t0008g0069 a0001c0003t0016g0152 a0001c0004t0008g0068 others(8): Show |
11 | 352 | 0.0313 | -15 | c.*11 others(24): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 8/8 | 113 | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14239901 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(3): Show | a0001c0001t0001g0092 a0001c0001t0002g0079 a0001c0001t0002g0086 others(4): Show |
7 | 78 | 0.0897 | -15 | c.337 others(32): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14702729 | AATGATAG others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0002g0095 a0001c0001t0005g0090 a0001c0001t0006g0083 others(6): Show |
9 | 85 | 0.1059 | -15 | c.40- others(34): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar |