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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp2 others(83): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0011a0003c0003t0017others(1): Show | a0003c0003t0002g0002 a0003c0003t0002g0008 a0003c0003t0002g0014 others(29): Show |
86 | 140 | 0.6143 | -9 | c.380 others(24): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102658086 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01517.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0017a0002c0002t0002 | a0001c0001t0014g0010 a0001c0001t0017g0010 a0002c0002t0002g0061 others(2): Show |
5 | 14 | 0.3571 | -9 | c.755 others(24): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102559454 | TCTCTACA others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03453.hp1 |
a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0010 | 2 | 164 | 0.0122 | -9 | c.755 others(24): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE5_chr7_75487320_75509316 | 75501770 | GGGAGGTG others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01109.hp2 others(27): Show |
a0002a0011 | a0002c0002a0002c0017a0011c0016 | a0002c0002t0004a0002c0002t0013a0002c0017t0004others(1): Show | a0002c0002t0004g0006 a0002c0002t0004g0009 a0002c0002t0004g0044 others(14): Show |
30 | 406 | 0.0739 | -9 | c.114 others(24): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE6_chr7_102340746_102361444 | 102358345 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | NA18948.hp2 NA18951.hp1 NA18970.hp1 others(6): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0009t0002 | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0021 others(2): Show |
9 | 83 | 0.1084 | -9 | c.-23 others(20): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 1902 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24412915 | TCACGTGA others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0061 a0001c0001t0002g0293 a0001c0001t0002g0294 others(133): Show |
137 | 324 | 0.4228 | -9 | c.326 others(26): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20093726 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG01515.hp2 HG01517.hp2 others(17): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(5): Show | a0001c0003t0007g0056 a0001c0003t0007g0059 a0001c0003t0007g0062 others(17): Show |
20 | 248 | 0.0806 | -9 | c.-21 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20295014 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02630.hp1 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(6): Show | a0001c0003t0007g0056 a0001c0003t0007g0059 a0001c0003t0007g0062 others(15): Show |
18 | 145 | 0.1241 | -9 | c.294 others(28): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35734696 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0003a0002c0001others(20): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(20): Show | a0001c0002t0001g0007 a0001c0002t0001g0020 a0001c0002t0001g0022 others(142): Show |
145 | 266 | 0.5451 | -9 | c.306 others(28): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15864167 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(211): Show |
a0001a0002a0006others(14): Show | a0001c0001a0001c0004a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(211): Show |
214 | 282 | 0.7589 | -9 | c.84- others(24): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPG11_chr15_44557696_44668662 | 44611091 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0102 a0001c0001t0001g0103 others(7): Show |
10 | 80 | 0.1250 | -9 | c.314 others(26): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 17/39 | chr15 | TogoVar | |||||||
SPG11_chr15_44557696_44668662 | 44662288 | AGAGGAGC others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(31): Show |
a0002a0003a0006others(3): Show | a0002c0002a0003c0003a0006c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0002c0002t0001g0018 a0002c0002t0001g0176 a0002c0002t0001g0177 others(31): Show |
34 | 188 | 0.1809 | -9 | c.257 others(26): Show |
SPG11 | ENSG00000104133.16 | transcript | ENST00000261866.12 | protein_coding | 1/39 | chr15 | TogoVar | |||||||
SPG7_chr16_89503403_89562766 | 89536451 | CGGTGAGG others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00673.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0005t0009others(4): Show | a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0031 others(34): Show |
37 | 354 | 0.1045 | -9 | c.132 others(28): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89543646 | ATTCTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01243.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0005others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 others(27): Show |
30 | 319 | 0.0940 | -9 | c.132 others(26): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPG7_chr16_89503403_89562766 | 89555800 | CTTTGTCC others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0009a0001c0005t0010 | a0001c0005t0005g0302 a0001c0005t0005g0305 a0001c0005t0009g0340 others(1): Show |
4 | 356 | 0.0112 | -9 | c.218 others(28): Show |
SPG7 | ENSG00000197912.16 | transcript | ENST00000645818.2 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPHKAP_chr2_227974955_228186687 | 228095099 | TGTAGATT others(2): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03130.hp2 NA19043.hp1 |
a0001a0003 | a0001c0001a0003c0005a0003c0006 | a0001c0001t0008a0003c0005t0001a0003c0006t0001 | a0001c0001t0008g0112 a0003c0005t0001g0286 a0003c0006t0001g0061 |
3 | 320 | 0.0094 | -9 | c.246 others(28): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 3/11 | chr2 | TogoVar | |||||||
SPHKAP_chr2_227974955_228186687 | 228176977 | ACTCTGTA others(2): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp2 HG04199.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0005c0004t0003 | a0001c0001t0002g0227 a0001c0001t0002g0296 a0001c0001t0002g0297 others(3): Show |
6 | 320 | 0.0188 | -9 | c.32+ others(24): Show |
SPHKAP | ENSG00000153820.13 | transcript | ENST00000392056.8 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47354547 | GTCATCAT others(2): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp2 NA18970.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0098 others(1): Show |
4 | 272 | 0.0147 | -9 | c.*67 others(18): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 312 | chr11 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479306 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01891.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(6): Show |
20 | 363 | 0.0551 | -9 | c.98- others(22): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47368343 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG03486.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0006a0004c0004t0002 | a0001c0001t0002g0047 a0001c0001t0002g0155 a0001c0001t0002g0156 others(3): Show |
6 | 24 | 0.2500 | -9 | c.526 others(28): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47658544 | CTGTTGTT others(2): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG02523.hp2 NA21309.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0003c0003t0002g0009 |
3 | 44 | 0.0682 | -9 | c.154 others(30): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88445518 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG03239.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0138 a0001c0001t0002g0047 a0001c0001t0008g0174 |
3 | 26 | 0.1154 | -9 | c.53- others(24): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPINK2_chr4_56804861_56826701 | 56805163 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(139): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(82): Show |
142 | 160 | 0.8875 | -9 | c.*49 others(20): Show |
SPINK2 | ENSG00000128040.13 | transcript | ENST00000506738.6 | protein_coding | 4697 | chr4 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12476541 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01346.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0025others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0122 a0001c0001t0001g0156 others(27): Show |
30 | 312 | 0.0962 | -9 | c.140 others(28): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 10/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12631548 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01346.hp1 HG01358.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(17): Show |
20 | 68 | 0.2941 | -9 | c.372 others(26): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12654336 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02895.hp1 others(8): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0004c0007others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0030others(3): Show | a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0273 others(8): Show |
11 | 179 | 0.0615 | -9 | c.337 others(26): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4472774 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0002others(1): Show | a0001c0001t0001g0168 a0001c0001t0001g0360 a0001c0001t0001g0361 others(3): Show |
6 | 17 | 0.3529 | -9 | c.111 others(28): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137233713 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp1 HG02080.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 others(15): Show |
18 | 39 | 0.4615 | -9 | c.232 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137293089 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0062 a0001c0001t0003g0051 others(7): Show |
10 | 17 | 0.5882 | -9 | c.187 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137449886 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG01099.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 others(28): Show |
31 | 82 | 0.3780 | -9 | c.186 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166740522 | TATTATTA others(2): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0095 others(1): Show |
4 | 142 | 0.0282 | -9 | c.994 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166792838 | CTATAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0133 |
3 | 142 | 0.0211 | -9 | c.590 others(24): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166977429 | TAGGCAAG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00621.hp2 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 others(75): Show |
78 | 142 | 0.5493 | -9 | c.350 others(28): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167067949 | CTGTTTAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02683.hp1 NA20805.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001 | a0001c0001t0001g0066 a0001c0001t0014g0062 a0001c0002t0001g0080 |
3 | 142 | 0.0211 | -9 | c.190 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167199694 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02970.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0002g0020 others(8): Show |
11 | 54 | 0.2037 | -9 | c.189 others(28): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14035614 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp2 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0059 others(69): Show |
72 | 199 | 0.3618 | -9 | c.346 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14161012 | TATATATC others(2): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02074.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0003g0179 a0001c0001t0006g0044 a0001c0002t0001g0024 others(3): Show |
6 | 222 | 0.0270 | -9 | c.825 others(28): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50698903 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(67): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(15): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0255 others(65): Show |
70 | 105 | 0.6667 | -9 | c.*88 others(20): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 3362 | chr15 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50746436 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(73): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0021others(19): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0255 others(71): Show |
76 | 191 | 0.3979 | -9 | c.584 others(26): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 5/14 | chr15 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2341095 | CCTCCCTG others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0015others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(11): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0013 others(68): Show |
103 | 412 | 0.2500 | -9 | c.956 others(22): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 8/14 | chr19 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317513 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(2): Show | a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0050 others(21): Show |
24 | 107 | 0.2243 | -9 | c.439 others(24): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65317552 | CAACAACA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 HG03486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014 a0001c0001t0002g0064 a0001c0001t0002g0065 others(5): Show |
8 | 274 | 0.0292 | -9 | c.439 others(24): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
SPRING1_chr12_116705171_116743069 | 116737531 | GGAGGAAG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(325): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(175): Show |
328 | 360 | 0.9111 | -9 | c.111 others(24): Show |
SPRING1 | ENSG00000111412.6 | transcript | ENST00000261318.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
SPRING1_chr12_116705171_116743069 | 116737541 | GAGGAAGG others(2): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0032 | a0001c0001t0014g0047 a0001c0001t0014g0182 a0001c0001t0032g0048 |
5 | 360 | 0.0139 | -9 | c.111 others(24): Show |
SPRING1 | ENSG00000111412.6 | transcript | ENST00000261318.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133429066 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp1 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0010g0006 others(21): Show |
66 | 68 | 0.9706 | -9 | c.-46 others(20): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4442 | chr10 | TogoVar | |||||||
SPRR3_chr1_152996749_153008856 | 152997080 | ACAATCAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 11 | 418 | 0.0263 | -9 | c.-47 others(20): Show |
SPRR3 | ENSG00000163209.15 | transcript | ENST00000295367.5 | protein_coding | 4668 | chr1 | TogoVar | |||||||
SPRTN_chr1_231333293_231360023 | 231343841 | GAGATAGG others(2): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0009g0071 others(1): Show |
5 | 350 | 0.0143 | -9 | c.322 others(26): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPRY1_chr4_123391795_123408755 | 123405645 | GCCAAACA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0003g0007 |
6 | 408 | 0.0147 | -9 | c.*30 others(20): Show |
SPRY1 | ENSG00000164056.11 | transcript | ENST00000651917.1 | protein_coding | 1891 | chr4 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155657926 | GGCTGCAC others(2): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0021a0001c0001t0028others(3): Show | a0001c0001t0003g0015 a0001c0001t0021g0069 a0001c0001t0028g0053 others(3): Show |
6 | 228 | 0.0263 | -9 | c.-28 others(30): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155716982 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0023others(4): Show | a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0016g0076 others(5): Show |
8 | 229 | 0.0349 | -9 | c.-28 others(30): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar |