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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA6_chr1_48290373_48477204 | 48377374 | ACCAATAT others(14): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0192 | 1 | 320 | 0.0031 | -21 | c.909 others(38): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48380814 | CCAGGCCT others(14): Show |
C | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 320 | 0.0031 | -21 | c.909 others(38): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28819844 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | HG03927.hp1 HG03927.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0225 a0001c0001t0001g0254 |
3 | 309 | 0.0097 | -21 | c.294 others(36): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819848 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0256 | 1 | 293 | 0.0034 | -21 | c.294 others(36): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819850 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 291 | 0.0034 | -21 | c.294 others(36): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | chr2 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28823724 | TATATATA others(14): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG02738.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0247 others(1): Show |
4 | 336 | 0.0119 | -21 | c.380 others(38): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp2 HG03209.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 107 | 0.0280 | -21 | c.-39 others(32): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73101923 | GTGTCAAT others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0025 | 1 | 216 | 0.0046 | -21 | c.*35 others(32): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 2084 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73150908 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0153 | 1 | 125 | 0.0080 | -21 | c.-64 others(40): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73154800 | GGCAGCAA others(14): Show |
G | intron_variant | MODIFIER | HG02886.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0001 | a0001c0001t0015g0144 a0001c0002t0001g0049 |
2 | 216 | 0.0093 | -21 | c.-64 others(38): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76541943 | TAAGAGTG others(14): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0004 | a0002c0004t0022 | a0002c0004t0022g0124 | 1 | 170 | 0.0059 | -21 | c.-42 others(36): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76541960 | TGTACAAG others(14): Show |
T | intron_variant | MODIFIER | HG04199.hp1 NA18747.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0054 a0002c0002t0002g0064 |
2 | 247 | 0.0081 | -21 | c.-42 others(37): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76541981 | CGTACAAG others(14): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00733.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0147 others(3): Show |
7 | 206 | 0.0340 | -21 | c.-42 others(38): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77061013 | TGTACAAG others(14): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG04115.hp1 NA18983.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0022 | a0001c0001t0004g0068 a0001c0001t0010g0021 a0001c0001t0010g0121 others(2): Show |
7 | 402 | 0.0174 | -21 | c.-42 others(37): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43999396 | TCTCTTGT others(14): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 322 | 0.0031 | -21 | c.-42 others(36): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE21_chr7_67271941_67294005 | 67274831 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02622.hp1 others(6): Show |
a0007a0011 | a0007c0008a0011c0013 | a0007c0008t0007a0011c0013t0013 | a0007c0008t0007g0030 a0007c0008t0007g0053 a0007c0008t0007g0111 others(3): Show |
9 | 52 | 0.1731 | -21 | c.-26 others(32): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2109 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67278188 | CACATGAT others(14): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0176 | 1 | 437 | 0.0023 | -21 | c.-42 others(36): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102651806 | GTGATAAT others(14): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0072 | 1 | 128 | 0.0078 | -21 | c.-42 others(36): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102552713 | GTGATAAT others(14): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0071 | 1 | 164 | 0.0061 | -21 | c.-42 others(36): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE5_chr7_75487320_75509316 | 75493495 | TCTCTTGT others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01071.hp1 others(12): Show |
a0005 | a0005c0007 | a0005c0007t0008a0005c0007t0009 | a0005c0007t0008g0021 a0005c0007t0008g0032 a0005c0007t0008g0033 others(8): Show |
15 | 131 | 0.1145 | -21 | c.-42 others(36): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 others(116): Show |
120 | 124 | 0.9677 | -21 | c.308 others(42): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20032389 | AGTATGCA others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 HG02083.hp1 others(35): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0005others(1): Show | a0001c0003t0007a0001c0003t0017a0001c0003t0018others(24): Show | a0001c0003t0007g0205 a0001c0003t0007g0206 a0001c0003t0007g0207 others(35): Show |
38 | 248 | 0.1532 | -21 | c.-22 others(40): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20157059 | TATTTGAA others(14): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0057 | 1 | 248 | 0.0040 | -21 | c.283 others(40): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20291917 | TGTTGGAA others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(27): Show |
a0003 | a0003c0004a0003c0007a0003c0013 | a0003c0004t0003a0003c0004t0009a0003c0004t0013others(8): Show | a0003c0004t0003g0008 a0003c0004t0003g0072 a0003c0004t0003g0078 others(27): Show |
30 | 248 | 0.1210 | -21 | c.294 others(40): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44633324 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02970.hp2 others(5): Show |
a0001a0011a0014others(1): Show | a0001c0001a0011c0010a0014c0023others(1): Show | a0001c0001t0001a0011c0010t0001a0014c0023t0001others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(5): Show |
8 | 34 | 0.2353 | -21 | c.173 others(38): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 8/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44636937 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(12): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0003 others(12): Show |
15 | 188 | 0.0798 | -21 | c.160 others(40): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 7/39 | chr15 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228092533 | ATATATGT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(82): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0012others(12): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(16): Show | a0001c0001t0001g0093 a0001c0001t0002g0091 a0002c0002t0001g0002 others(82): Show |
85 | 315 | 0.2698 | -21 | c.246 others(40): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228124721 | TTAAAGTA others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(102): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0005others(11): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(17): Show | a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0034 others(102): Show |
105 | 320 | 0.3281 | -21 | c.138 others(38): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
SPIDR_chr8_47255938_47741306 | 47640841 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 3 | 0.3333 | -21 | c.154 others(42): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPINK1_chr5_147819582_147836671 | 147823291 | TCTCCTCC others(14): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02109.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 a0002c0002t0001g0015 |
11 | 424 | 0.0259 | -21 | c.*13 others(32): Show |
SPINK1 | ENSG00000164266.11 | transcript | ENST00000296695.10 | protein_coding | 1290 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137020456 | TATAAAAG others(14): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0112 a0001c0001t0004g0034 a0001c0001t0007g0048 others(3): Show |
6 | 152 | 0.0395 | -21 | c.590 others(40): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137292426 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 4 | 0.2500 | -21 | c.187 others(40): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166740510 | TATTATTA others(14): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02602.hp1 HG02622.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0047 others(10): Show |
13 | 142 | 0.0915 | -21 | c.994 others(38): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205530 | TTATATAA others(14): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0002g0014 a0001c0001t0002g0016 others(2): Show |
5 | 137 | 0.0365 | -21 | c.189 others(40): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14113568 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0033 a0001c0004t0001g0107 |
2 | 3 | 0.6667 | -21 | c.677 others(40): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON2_chr4_1161932_1177583 | 1172860 | CTCCCCTC others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 429 | 0.0023 | -21 | c.-34 others(30): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 278 | chr4 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1176839 | GTTCATTC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02040.hp1 HG02129.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0003 |
4 | 387 | 0.0103 | -21 | c.-43 others(32): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 4257 | chr4 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317513 | AAACAACA others(14): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0232 others(1): Show |
4 | 87 | 0.0460 | -21 | c.439 others(36): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRR1A_chr1_152979081_152990814 | 152980554 | AGGCTCCT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02922.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 400 | 0.0100 | -21 | c.-35 others(32): Show |
SPRR1A | ENSG00000169474.5 | transcript | ENST00000368762.2 | protein_coding | 3526 | chr1 | TogoVar | |||||||
SPRR5_chr1_152942206_152954255 | 152948597 | TGCTGCCC others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(81): Show |
a0002a0010 | a0002c0002a0010c0013 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0002c0002t0001g0006 a0002c0002t0001g0014 a0002c0002t0001g0017 others(6): Show |
84 | 434 | 0.1935 | -21 | c.64_ others(26): Show |
p.Arg others(11): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 2/2 | 125/762 | 64/327 | 22/108 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SPRR5_chr1_152942206_152954255 | 152948713 | TCCCCAGC others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0005 | a0004c0004t0005g0008 a0004c0004t0005g0013 a0004c0004t0005g0020 |
8 | 434 | 0.0184 | -21 | c.174 others(28): Show |
p.Pro others(11): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 2/2 | 235/762 | 174/327 | 58/108 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SPRY3_chrX_155607586_155787459 | 155692164 | AATAGTAA others(14): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0067a0001c0002t0032 | a0001c0001t0067g0093 a0001c0002t0032g0070 |
2 | 229 | 0.0087 | -21 | c.-28 others(42): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155755236 | CCAATGTC others(14): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0007g0086 a0001c0001t0010g0133 a0001c0001t0021g0120 others(1): Show |
4 | 229 | 0.0175 | -21 | c.-28 others(42): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141134030 | CTTTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 252 | 0.0040 | -21 | c.695 others(40): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40521350 | CTATTGTT others(14): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0170 | 1 | 232 | 0.0043 | -21 | c.365 others(40): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 16/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77616211 | AACCCAGA others(14): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0230 | 1 | 244 | 0.0041 | -21 | c.132 others(36): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34429928 | TCTTCCAA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(76): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(72): Show |
79 | 342 | 0.2310 | -21 | c.*52 others(32): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 2859 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161369274 | CTTCTTTC others(14): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0151 a0001c0001t0001g0152 |
5 | 410 | 0.0122 | -21 | c.-12 others(40): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31583642 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0358 | 1 | 384 | 0.0026 | -21 | c.-27 others(32): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 2705 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55343115 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02258.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0003g0024 a0001c0001t0005g0023 a0001c0001t0009g0194 others(5): Show |
8 | 13 | 0.6154 | -21 | c.-32 others(32): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 3126 | chr4 | TogoVar |