| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PDCD10_chr3_167678298_167739892 | 167684952 | A | AAAAATAT others(340): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 284 | 0.0035 | 347 | c.558 others(362): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 8/8 | chr3 | TogoVar | ||||||
| PDE8B_chr5_77205680_77433256 | 77420370 | T | TAAAACCT others(340): Show |
intron_variant | MODIFIER | HG01074.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0168a0001c0001t0006g0242 | 2 | 314 | 0.0064 | 347 | c.225 others(364): Show |
PDE8B | ENSG00000113231.14 | transcript | ENST00000264917.10 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAGAAAGA others(340): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0293 | 1 | 342 | 0.0029 | 347 | c.20- others(362): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDS5B_chr13_32581452_32783019 | 32707645 | C | CTGTCATC others(340): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0037others(1): Show | a0001c0001t0001g0111a0001c0001t0010g0082a0001c0001t0010g0109others(5): Show | 8 | 334 | 0.0240 | 347 | c.196 others(364): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41429793 | T | TCTTATTT others(340): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18966.hp1 |
a0003 | a0003c0005a0003c0006 | a0003c0005t0001a0003c0006t0001 | a0003c0005t0001g0053a0003c0006t0001g0005 | 2 | 206 | 0.0097 | 347 | c.844 others(366): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEX10_chr1_2398974_2417564 | 2401351 | T | TCCTCCCT others(340): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 HG02647.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003a0001c0003t0009others(1): Show | a0001c0002t0003g0006a0001c0003t0003g0046a0001c0003t0003g0051others(3): Show | 6 | 358 | 0.0168 | 347 | c.*44 others(358): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2622 | chr1 | TogoVar | ||||||
| PI4K2A_chr10_97635671_97681434 | 97668125 | T | TAAAGAGA others(340): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 350 | 0.0029 | 347 | c.127 others(366): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PIP4K2A_chr10_22529854_22719578 | 22578645 | T | TTTGTTTA others(340): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0184a0002c0003t0007g0187 | 2 | 206 | 0.0097 | 347 | c.493 others(364): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 4/9 | chr10 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 280435 | G | GCGGGGGG others(340): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0114 | a0001c0001t0114g0013 | 1 | 176 | 0.0057 | 347 | c.-12 others(358): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 945 | chrX | TogoVar | ||||||
| PLPP1_chr5_55419854_55539964 | 55433460 | T | TTCAGTAA others(340): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 294 | 0.0034 | 347 | c.550 others(364): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
| PLXDC2_chr10_19811432_20294856 | 19843073 | T | TAAAATTT others(340): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0155 | 1 | 180 | 0.0056 | 347 | c.112 others(366): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(340): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 NA18952.hp1 NA18971.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0002a0004c0009t0002 | a0001c0001t0001g0002a0001c0001t0002g0004a0001c0001t0002g0015others(1): Show | 5 | 286 | 0.0175 | 347 | c.-50 others(358): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
| POLN_chr4_2066918_2247121 | 2217617 | G | GACAGTTT others(340): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0011 | 1 | 194 | 0.0052 | 347 | c.134 others(364): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 3/25 | chr4 | TogoVar | ||||||
| PPIH_chr1_42653423_42681758 | 42679735 | A | ATAGGGCA others(340): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 372 | 0.0027 | 347 | c.*31 others(358): Show |
PPIH | ENSG00000171960.12 | transcript | ENST00000304979.8 | protein_coding | 2978 | chr1 | TogoVar | ||||||
| PRKCE_chr2_45646675_46192990 | 45969045 | T | TAAAATAT others(340): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0126a0001c0001t0021g0038 | 2 | 168 | 0.0119 | 347 | c.413 others(364): Show |
PRKCE | ENSG00000171132.14 | transcript | ENST00000306156.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PTER_chr10_16432010_16518745 | 16506037 | T | TGAGAGAT others(340): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0331 | 1 | 378 | 0.0027 | 347 | c.839 others(362): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| RAI14_chr5_34651328_34837612 | 34717925 | T | TCCAACCC others(340): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0004 | a0001c0001t0001g0109a0002c0005t0004g0175 | 2 | 254 | 0.0079 | 347 | c.36+ others(364): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAPGEF6_chr5_131418921_131640229 | 131466294 | T | TAAGAAAT others(340): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 324 | 0.0031 | 347 | c.224 others(366): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 17/27 | chr5 | TogoVar | ||||||
| RARS1_chr5_168481471_168524301 | 168513669 | A | AAGAGTCT others(340): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 394 | 0.0025 | 347 | c.145 others(366): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114007273 | G | GGACACCA others(340): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 67 | 0.0149 | 347 | c.174 others(364): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| RBL1_chr20_36991349_37100997 | 37093331 | T | TACATTTG others(340): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 354 | 0.0028 | 347 | c.156 others(364): Show |
RBL1 | ENSG00000080839.12 | transcript | ENST00000373664.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48520837 | C | CAAAAAAG others(340): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 320 | 0.0031 | 347 | c.42+ others(362): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 4/14 | chr13 | TogoVar | ||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(340): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 318 | 0.0031 | 347 | c.*36 others(358): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
| RER1_chr1_2386841_2410436 | 2401351 | T | TCCTCCCT others(340): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02055.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0092a0001c0001t0003g0098a0001c0001t0003g0145others(3): Show | 6 | 354 | 0.0170 | 347 | c.365 others(362): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RERE_chr1_8347404_8822640 | 8441930 | T | TCAATACA others(340): Show |
intron_variant | MODIFIER | HG02602.hp2 HG04115.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0005a0001c0004t0025 | a0001c0001t0006g0181a0001c0004t0005g0123a0001c0004t0025g0080 | 3 | 204 | 0.0147 | 347 | c.120 others(368): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 11/22 | chr1 | TogoVar | ||||||
| RIMS2_chr8_103495610_104259430 | 103647377 | T | TGAGGTTT others(340): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0126 | 1 | 172 | 0.0058 | 347 | c.177 others(364): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(340): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 408 | 0.0025 | 347 | c.182 others(364): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RTN4IP1_chr6_106565771_106634498 | 106588516 | C | CAAAAAAA others(340): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0129 | 1 | 396 | 0.0025 | 347 | c.807 others(362): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
| SBK2_chr19_55523611_55542133 | 55527278 | C | CACACGCA others(340): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 NA18973.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015a0001c0001t0009g0084 | 4 | 434 | 0.0092 | 347 | c.*24 others(358): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 1332 | chr19 | TogoVar | ||||||
| SBSPON_chr8_73059543_73098172 | 73067663 | A | AGGCTGGG others(340): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0059 | 1 | 414 | 0.0024 | 347 | c.678 others(362): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
| SCAPER_chr15_76342904_76910340 | 76591242 | C | CAAGACAG others(340): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 312 | 0.0032 | 347 | c.271 others(368): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 22/31 | chr15 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(340): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 324 | 0.0031 | 347 | c.115 others(364): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(340): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 324 | 0.0031 | 347 | c.115 others(364): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(340): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 324 | 0.0031 | 347 | c.115 others(364): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| SEL1L_chr14_81466547_81538853 | 81491929 | C | CAAGAATA others(340): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 360 | 0.0028 | 347 | c.125 others(364): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 12/20 | chr14 | TogoVar | ||||||
| SERPINI1_chr3_167730721_167830569 | 167781089 | A | ACCCCCTT others(340): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156a0002c0002t0001g0157 | 2 | 232 | 0.0086 | 347 | c.-18 others(364): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SH2B3_chr12_111400923_111456623 | 111404179 | T | TGAAACAT others(340): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0022 | 1 | 326 | 0.0031 | 347 | c.-21 others(358): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 1743 | chr12 | TogoVar | ||||||
| SH3GLB2_chr9_129002036_129033331 | 129033138 | T | TTTTTTTT others(340): Show |
upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 | 1 | 436 | 0.0023 | 347 | c.-49 others(358): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 4808 | chr9 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116975247 | A | AAAATTCA others(340): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0028 | 1 | 366 | 0.0027 | 347 | c.274 others(366): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| SLC10A5_chr8_81688631_81700058 | 81691559 | A | AGGAGTAA others(340): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 426 | 0.0047 | 347 | c.*20 others(358): Show |
SLC10A5 | ENSG00000253598.3 | transcript | ENST00000518568.3 | protein_coding | 2071 | chr8 | TogoVar | ||||||
| SLC17A5_chr6_73588379_73658992 | 73632008 | T | TAAGAATG others(340): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02615.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024a0001c0001t0004g0027a0001c0001t0004g0028others(7): Show | 10 | 324 | 0.0309 | 347 | c.819 others(364): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| SLC25A18_chr22_17558498_17595995 | 17567654 | C | CTATCCTT others(340): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0329a0001c0001t0002g0377 | 2 | 410 | 0.0049 | 347 | c.-26 others(366): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SLC25A18_chr22_17558498_17595995 | 17567654 | C | CTATCCTT others(340): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033a0001c0001t0003g0031a0001c0001t0003g0032 | 3 | 410 | 0.0073 | 347 | c.-26 others(366): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SLC45A1_chr1_8313114_8349165 | 8331445 | A | AAACACTT others(340): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 388 | 0.0026 | 347 | c.144 others(364): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC4A4_chr4_71182259_71577083 | 71333881 | T | TGCCAGGC others(340): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 152 | 0.0066 | 347 | c.254 others(364): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC5A5_chr19_17866945_17900174 | 17870672 | T | TAATATTT others(340): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 414 | 0.0024 | 347 | c.-16 others(358): Show |
SLC5A5 | ENSG00000105641.4 | transcript | ENST00000222248.4 | protein_coding | 1272 | chr19 | TogoVar | ||||||
| SLC9C2_chr1_173495460_173608072 | 173547057 | T | TGACAATA others(340): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0132 | 1 | 316 | 0.0032 | 347 | c.155 others(364): Show |
SLC9C2 | ENSG00000162753.13 | transcript | ENST00000367714.4 | protein_coding | 13/27 | chr1 | TogoVar | ||||||
| SMAD9_chr13_36839831_36925238 | 36891157 | T | TAAAAACA others(340): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0339 | 1 | 358 | 0.0028 | 347 | c.-18 others(368): Show |
SMAD9 | ENSG00000120693.15 | transcript | ENST00000379826.5 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATTATA others(340): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 340 | 0.0029 | 347 | c.*17 others(366): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1372293 | T | TTTAGAAG others(340): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02976.hp1 others(2): Show |
a0004a0005 | a0004c0004a0005c0015 | a0004c0004t0001a0005c0015t0001 | a0004c0004t0001g0047a0004c0004t0001g0089a0004c0004t0001g0116others(2): Show | 5 | 190 | 0.0263 | 347 | c.*48 others(358): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4681 | chr2 | TogoVar |