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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG16_chr2_213279464_214415501 | 214031598 | T | TAATAAAA others(18): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0044 | 1 | 24 | 0.0417 | 25 | c.152 others(46): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100168687 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01261.hp2 HG02683.hp2 others(11): Show |
a0003a0013 | a0003c0004a0003c0006a0003c0018others(1): Show | a0003c0004t0001a0003c0006t0001a0003c0018t0001others(1): Show | a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0053 others(11): Show |
14 | 125 | 0.1120 | 25 | c.300 others(42): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | NA18984.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 116 | 0.0172 | 25 | c.-58 others(34): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AGAAAGAA others(18): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 25 | c.-58 others(34): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 136 | 0.0074 | 25 | c.-18 others(36): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0070 |
8 | 143 | 0.0559 | 25 | c.-18 others(36): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 136 | 0.0074 | 25 | c.-18 others(36): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51037691 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0002g0216 |
3 | 239 | 0.0126 | 25 | c.741 others(42): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083776 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 100 | 0.0100 | 25 | c.416 others(42): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190169 | T | TCATATAA others(18): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 316 | 0.0032 | 25 | c.-11 others(46): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24190169 | T | TCATATAA others(18): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0014a0001c0009t0010 | a0001c0001t0002g0190 a0001c0001t0014g0250 a0001c0009t0010g0288 |
3 | 318 | 0.0094 | 25 | c.-11 others(46): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24190169 | T | TTATTATA others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0021a0001c0002t0081a0001c0005t0045others(1): Show | a0001c0002t0021g0356 a0001c0002t0081g0061 a0001c0005t0045g0014 others(1): Show |
4 | 319 | 0.0125 | 25 | c.-11 others(46): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02148.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0034 | a0001c0001t0001g0172 a0001c0004t0034g0251 |
2 | 26 | 0.0769 | 25 | c.520 others(42): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA22_chr17_3435019_3476819 | 3458855 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 116 | 0.0086 | 25 | c.329 others(42): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930201 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp2 HG01361.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0053 others(2): Show |
33 | 69 | 0.4783 | 25 | c.293 others(38): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122992956 | T | TGTGTGTG others(18): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0071 | 1 | 258 | 0.0039 | 25 | c.186 others(46): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123095042 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0092 | 1 | 225 | 0.0044 | 25 | c.234 others(44): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATS1_chr6_44337650_44385179 | 44369880 | C | CATAAAAT others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02895.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0004a0001c0001t0009a0001c0001t0047others(2): Show | a0001c0001t0004g0020 a0001c0001t0009g0060 a0001c0001t0009g0192 others(5): Show |
10 | 116 | 0.0862 | 25 | c.696 others(40): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0142 | 1 | 135 | 0.0074 | 25 | c.39+ others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0043 | a0001c0001t0003g0003 a0001c0001t0043g0277 |
2 | 136 | 0.0147 | 25 | c.39+ others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0289 | 1 | 135 | 0.0074 | 25 | c.39+ others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 135 | 0.0074 | 25 | c.39+ others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0275 | 1 | 135 | 0.0074 | 25 | c.39+ others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468379 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0198 | 1 | 298 | 0.0034 | 25 | c.957 others(40): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49378261 | G | GTTTATTT others(18): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 105 | 0.0095 | 25 | c.-24 others(44): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(18): Show |
3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00642.hp1 others(48): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0017a0001c0001t0029others(22): Show | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0029 others(37): Show |
51 | 126 | 0.4048 | 25 | c.*71 others(34): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPC25_chr2_168865891_168895430 | 168887421 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0054 | 1 | 175 | 0.0057 | 25 | c.199 others(42): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74955851 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 NA19070.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0208 a0001c0001t0006g0282 a0001c0002t0001g0056 |
3 | 36 | 0.0833 | 25 | c.114 others(42): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76539081 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03195.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0090 a0003c0003t0002g0091 |
2 | 179 | 0.0112 | 25 | c.380 others(40): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76539081 | T | TTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02630.hp1 HG03540.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 |
3 | 180 | 0.0167 | 25 | c.380 others(40): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547841 | G | GAAAGAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0033 | 1 | 162 | 0.0062 | 25 | c.-38 others(36): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3384 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547867 | A | AAAGAAAG others(18): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0089 | 1 | 163 | 0.0061 | 25 | c.-38 others(36): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3358 | chr7 | TogoVar | |||||||
SPDYE6_chr7_102340746_102361444 | 102359659 | G | GAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG02004.hp1 HG02300.hp2 others(2): Show |
a0003a0008 | a0003c0003a0008c0011 | a0003c0003t0003a0008c0011t0003 | a0003c0003t0003g0003 a0003c0003t0003g0117 a0008c0011t0003g0133 |
5 | 9 | 0.5556 | 25 | c.-36 others(36): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 3216 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24288615 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 101 | 0.0099 | 25 | c.-38 others(44): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20194502 | A | ATTATTTT others(18): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0136 | 1 | 43 | 0.0233 | 25 | c.284 others(42): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20251224 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG02074.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0082others(8): Show | a0001c0001t0002g0114 a0001c0001t0002g0200 a0001c0001t0004g0165 others(9): Show |
12 | 65 | 0.1846 | 25 | c.259 others(44): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35713781 | A | ATATATTA others(18): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0222 | 1 | 259 | 0.0039 | 25 | c.291 others(42): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35757049 | T | TACTATTA others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0002c0001others(8): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(8): Show | a0001c0002t0001g0022 a0001c0002t0001g0044 a0001c0003t0001g0003 others(76): Show |
79 | 265 | 0.2981 | 25 | c.346 others(44): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15904452 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 64 | 0.0156 | 25 | c.882 others(42): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPHK1_chr17_76379609_76392855 | 76388640 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 156 | 0.0064 | 25 | c.*10 others(36): Show |
SPHK1 | ENSG00000176170.14 | transcript | ENST00000592299.6 | protein_coding | 786 | chr17 | TogoVar | |||||||
SPHK2_chr19_48614506_48635405 | 48616643 | C | CCAGCACA others(18): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG02027.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0009 others(5): Show |
9 | 205 | 0.0439 | 25 | c.-30 others(36): Show |
SPHK2 | ENSG00000063176.16 | transcript | ENST00000245222.9 | protein_coding | 2862 | chr19 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47356329 | A | ATTCACAA others(18): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 388 | 0.0026 | 25 | c.494 others(40): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47366822 | A | AAAAAGAA others(18): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 35 | 0.0286 | 25 | c.143 others(42): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47381507 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 374 | 0.0027 | 25 | c.-31 others(36): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2961 | chr11 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113480931 | A | AGAAAGAA others(18): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03195.hp2 NA19006.hp1 |
a0001a0008 | a0001c0001a0001c0002a0008c0018 | a0001c0001t0002a0001c0002t0003a0008c0018t0003 | a0001c0001t0002g0023 a0001c0002t0003g0268 a0008c0018t0003g0254 |
3 | 282 | 0.0106 | 25 | c.611 others(42): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPIC_chr12_101470336_101491997 | 101479242 | A | AAGAAGGA others(18): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 318 | 0.0031 | 25 | c.98- others(38): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47393673 | T | TTTTCCTT others(18): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 43 | 0.0233 | 25 | c.526 others(42): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47458323 | G | GTATTTTA others(18): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp2 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0040 others(1): Show |
4 | 58 | 0.0690 | 25 | c.109 others(46): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565992 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 74 | 0.0135 | 25 | c.109 others(46): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPIDR_chr8_47255938_47741306 | 47565992 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18954.hp1 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0002g0034 others(1): Show |
4 | 77 | 0.0519 | 25 | c.109 others(46): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |