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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA31D4_chr9_81923428_81939998 | 81930201 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 37 | 0.0270 | 33 | c.293 others(46): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017189 | A | AGGGGAGA others(26): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 63 | 0.2857 | 33 | c.187 others(54): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4600507 | G | GAGAGAGA others(26): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0019 | 1 | 404 | 0.0025 | 33 | c.*30 others(42): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 12/12 | 3672 | chr9 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0096 | 1 | 135 | 0.0074 | 33 | c.39+ others(48): 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(26): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0208 | 1 | 135 | 0.0074 | 33 | c.39+ others(48): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(26): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 27 | 0.0370 | 33 | c.957 others(48): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(26): Show |
3_prime_UTR_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0145 | a0001c0001t0145g0066 | 1 | 76 | 0.0132 | 33 | c.*71 others(42): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPDYE17_chr7_77017306_77037361 | 77036265 | T | TGTGTAAC others(26): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 294 | 0.0034 | 33 | c.-44 others(44): Show |
SPDYE17 | ENSG00000186645.11 | transcript | ENST00000671986.3 | protein_coding | 3905 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547813 | G | GGAAGAAA others(26): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0132 | 1 | 160 | 0.0063 | 33 | c.-38 others(44): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3412 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102548040 | G | GGCGCACA others(26): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0013 | 1 | 164 | 0.0061 | 33 | c.-36 others(44): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3185 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24272383 | T | TAAAAACA others(26): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 324 | 0.0031 | 33 | c.-14 others(52): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | A | ATTTTTTT others(26): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 5 | 0.2000 | 33 | c.308 others(54): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20251224 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0107 | 1 | 54 | 0.0185 | 33 | c.259 others(52): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35687915 | A | ATTGCAAG others(26): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0156 | 1 | 265 | 0.0038 | 33 | c.152 others(52): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35713908 | T | TATATTTT others(26): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01884.hp1 HG02486.hp1 others(4): Show |
a0001a0004a0011others(1): Show | a0001c0003a0004c0012a0011c0015others(1): Show | a0001c0003t0001a0004c0012t0001a0011c0015t0001others(1): Show | a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0264 others(4): Show |
7 | 115 | 0.0609 | 33 | c.291 others(52): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35713947 | T | TATATTTT others(26): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0043 | a0043c0026 | a0043c0026t0001 | a0043c0026t0001g0256 | 1 | 266 | 0.0038 | 33 | c.291 others(52): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPI1_chr11_47349860_47383547 | 47381507 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 374 | 0.0027 | 33 | c.-31 others(44): Show |
SPI1 | ENSG00000066336.13 | transcript | ENST00000378538.8 | protein_coding | 2961 | chr11 | TogoVar | |||||||
SPICE1_chr3_113437718_113520156 | 113480931 | A | AGAAAGAA others(26): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02630.hp2 others(13): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0013 | a0001c0002t0003a0001c0002t0007a0002c0003t0005others(2): Show | a0001c0002t0003g0007 a0001c0002t0003g0246 a0001c0002t0003g0252 others(12): Show |
16 | 295 | 0.0542 | 33 | c.611 others(50): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | |||||||
SPINK4_chr9_33235167_33253567 | 33251886 | G | GAGAAGGG others(26): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0010 a0001c0001t0001g0048 a0002c0002t0002g0026 |
4 | 36 | 0.1111 | 33 | c.*34 others(44): Show |
SPINK4 | ENSG00000122711.9 | transcript | ENST00000379721.4 | protein_coding | 3320 | chr9 | TogoVar | |||||||
SPINK5_chr5_148058980_148142382 | 148123414 | T | TTATATAT others(26): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0233 | 1 | 222 | 0.0045 | 33 | c.253 others(50): Show |
SPINK5 | ENSG00000133710.17 | transcript | ENST00000256084.8 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPINK6_chr5_148198042_148220137 | 148212577 | T | TATTTATA others(26): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 436 | 0.0023 | 33 | c.82- others(48): Show |
SPINK6 | ENSG00000178172.7 | transcript | ENST00000325630.3 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38289484 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 130 | 0.0077 | 33 | c.391 others(48): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0036 | 1 | 138 | 0.0072 | 33 | c.372 others(52): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89869045 | A | ACATATAT others(26): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG02080.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0002a0002c0002t0002a0005c0007t0002 | a0001c0001t0002g0036 a0002c0002t0002g0253 a0005c0007t0002g0275 |
3 | 324 | 0.0093 | 33 | c.180 others(50): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 30 | 0.0333 | 33 | c.180 others(50): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0128 |
2 | 31 | 0.0645 | 33 | c.180 others(50): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(26): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18940.hp2 NA18967.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0052 a0001c0001t0001g0146 a0003c0004t0001g0065 |
3 | 32 | 0.0938 | 33 | c.180 others(50): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAATAT others(26): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03831.hp2 NA18969.hp1 |
a0001 | a0001c0001a0001c0027 | a0001c0001t0001a0001c0001t0004a0001c0027t0001 | a0001c0001t0001g0177 a0001c0001t0004g0116 a0001c0027t0001g0021 |
3 | 32 | 0.0938 | 33 | c.180 others(50): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS2_chr17_4493881_4544035 | 4494974 | T | TAAAAAAA others(26): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0095 a0001c0001t0002g0338 a0001c0001t0011g0362 others(6): Show |
9 | 50 | 0.1800 | 33 | c.-40 others(44): Show |
SPNS2 | ENSG00000183018.9 | transcript | ENST00000329078.8 | protein_coding | 3906 | chr17 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4458627 | T | TTCTTTCT others(26): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0031 | a0001c0031t0005 | a0001c0031t0005g0033 | 1 | 360 | 0.0028 | 33 | c.111 others(52): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(26): Show |
upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 35 | 0.0286 | 33 | c.-12 others(44): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167116716 | T | TATATGTA others(26): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02056.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0005 | a0001c0001t0001g0032 a0001c0001t0013g0100 a0001c0002t0005g0074 |
3 | 141 | 0.0213 | 33 | c.190 others(52): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14160729 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0192 | 1 | 222 | 0.0045 | 33 | c.825 others(52): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14160739 | A | ATATATAT others(26): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0040 a0001c0002t0003g0219 |
2 | 122 | 0.0164 | 33 | c.825 others(52): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(26): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107 | 1 | 67 | 0.0149 | 33 | c.*69 others(44): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2349162 | C | CTCTCCAC others(26): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0015a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0031 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
138 | 389 | 0.3548 | 33 | c.135 others(52): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2349162 | C | CTCTCCAC others(26): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0293 a0001c0001t0016g0294 |
2 | 253 | 0.0079 | 33 | c.135 others(52): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2349340 | C | CTCTCCAC others(26): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 405 | 0.0049 | 33 | c.135 others(52): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPPL3_chr12_120757510_120909358 | 120830407 | G | GGAGGGGG others(26): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 318 | 0.0031 | 33 | c.24- others(50): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155616130 | C | CTCTCTCT others(26): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0129 | 1 | 116 | 0.0086 | 33 | c.-28 others(52): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAGAGA others(26): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03492.hp2 |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0285 a0001c0009t0007g0288 |
2 | 137 | 0.0146 | 33 | c.-47 others(50): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(26): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0016 | a0001c0016t0005 | a0001c0016t0005g0099 | 1 | 129 | 0.0078 | 33 | c.149 others(52): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64751927 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 151 | 0.0066 | 33 | c.660 others(52): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 33/35 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77529620 | C | CTTTCTTT others(26): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 26 | 0.0385 | 33 | c.130 others(52): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531463 | T | TTCTCCTC others(26): Show |
intron_variant | MODIFIER | HG02293.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0178 a0001c0001t0005g0181 |
2 | 209 | 0.0096 | 33 | c.130 others(52): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18622086 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 200 | 0.0050 | 33 | c.61- others(48): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179823531 | C | CTAGGGAT others(26): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0146 | 1 | 460 | 0.0022 | 33 | c.302 others(48): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SREK1IP1_chr5_64713148_64773691 | 64731521 | C | CAAAAAAA others(26): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0035 | 1 | 276 | 0.0036 | 33 | c.206 others(50): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
SRF_chr6_43166269_43186506 | 43181532 | C | CTACTTAG others(26): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | 33 | c.*23 others(44): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 27 | chr6 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64144233 | T | TTTGTTGT others(26): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0031 | 1 | 103 | 0.0097 | 33 | c.*15 others(44): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 1583 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |