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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 245977053 | C | CAGGGAAA others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0149 | 1 | 99 | 0.0101 | 48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246348077 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0055 | 1 | 49 | 0.0204 | 48 | c.228 others(65): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246478745 | T | TCCTGGAG others(41): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0014 | 1 | 5 | 0.2000 | 48 | c.164 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246478745 | T | TCCTGGAG others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00738.hp1 others(17): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0080 a0001c0001t0001g0082 others(17): Show |
20 | 24 | 0.8333 | 48 | c.164 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403369 | C | CGGGGGAG others(41): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0084 |
2 | 322 | 0.0062 | 48 | c.-32 others(59): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3200 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403416 | C | CGGGGAAG others(41): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 327 | 0.0031 | 48 | c.-33 others(59): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3247 | chr9 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241030901 | T | TTCCTTGA others(41): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0110 | 1 | 342 | 0.0029 | 48 | c.501 others(63): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNIP1_chr1_37529449_37559293 | 37535230 | T | TTATATAT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03688.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0156 a0001c0001t0025g0170 a0001c0001t0025g0187 |
3 | 286 | 0.0105 | 48 | c.*25 others(59): Show |
SNIP1 | ENSG00000163877.11 | transcript | ENST00000296215.8 | protein_coding | 4/4 | 2517 | chr1 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69292395 | T | TATATATT others(41): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0064 a0001c0002t0015g0066 |
2 | 216 | 0.0093 | 48 | c.134 others(67): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TCTTTTCT others(41): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0076 | 1 | 34 | 0.0294 | 48 | c.-10 others(69): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
SNTG1_chr8_49906407_50801692 | 49938603 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0042 a0001c0001t0003g0019 |
2 | 35 | 0.0571 | 48 | c.-10 others(69): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031508 | T | TTTTATAT others(41): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0033 | 1 | 170 | 0.0059 | 48 | c.73- others(65): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222005 | C | CTGTCTCT others(41): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0097 | 1 | 155 | 0.0065 | 48 | c.719 others(67): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1255875 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0063 others(3): Show |
6 | 138 | 0.0435 | 48 | c.100 others(67): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26325306 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0269 |
2 | 8 | 0.2500 | 48 | c.-23 others(67): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557496 | A | ATTCTTCT others(41): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 68 | 0.0147 | 48 | c.*56 others(59): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3596 | chr14 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557555 | T | TCTTCTTC others(41): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0241 | 1 | 289 | 0.0035 | 48 | c.*55 others(59): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3537 | chr14 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2268694 | C | CCCGGCCA others(41): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0309 | 1 | 258 | 0.0039 | 48 | c.621 others(63): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 5/10 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826833 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 299 | 0.0033 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827182 | T | TTATAGTT others(41): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0265 | 1 | 289 | 0.0035 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827182 | T | TTATAGTT others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(4): Show |
7 | 295 | 0.0237 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827211 | T | TTATAGTT others(41): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02622.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(1): Show |
4 | 294 | 0.0136 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827240 | T | TTATAGTT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0267 | 1 | 298 | 0.0034 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827413 | A | ATTATAGT others(41): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 300 | 0.0033 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827442 | A | ATTATAGT others(41): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18747.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0215 others(1): Show |
4 | 293 | 0.0137 | 48 | c.12+ others(63): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157840058 | G | GGGGGTGT others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02273.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0130 others(8): Show |
12 | 134 | 0.0896 | 48 | c.12+ others(65): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157840076 | C | CGGGAAAG others(41): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 300 | 0.0033 | 48 | c.12+ others(65): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 191 | 0.0052 | 48 | c.949 others(65): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179353211 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0083 | 1 | 85 | 0.0118 | 48 | c.159 others(65): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179353211 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021 | a0001c0001t0010g0022 a0001c0001t0010g0056 a0001c0001t0010g0059 others(2): Show |
5 | 89 | 0.0562 | 48 | c.159 others(65): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT2_chr12_53098486_53129535 | 53105801 | A | AAGTTCTG others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp2 others(110): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(18): Show | a0001c0001t0001g0218 a0001c0001t0004g0211 a0001c0001t0006g0210 others(75): Show |
113 | 408 | 0.2770 | 48 | c.336 others(61): Show |
SOAT2 | ENSG00000167780.12 | transcript | ENST00000301466.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SOAT2_chr12_53098486_53129535 | 53105820 | C | CCCATGCC others(41): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(52): Show |
a0002a0003 | a0002c0002a0003c0009 | a0002c0002t0001a0002c0002t0003a0003c0009t0001 | a0002c0002t0001g0005 a0002c0002t0001g0028 a0002c0002t0001g0029 others(40): Show |
55 | 408 | 0.1348 | 48 | c.336 others(61): Show |
SOAT2 | ENSG00000167780.12 | transcript | ENST00000301466.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 2 | 48 | 0.0417 | 48 | c.-90 others(65): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38389894 | T | TATATATG others(41): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0013 a0001c0001t0013g0014 |
2 | 287 | 0.0070 | 48 | c.168 others(67): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185731449 | C | CCTCCCTC others(41): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0009a0001c0025 | a0001c0009t0004a0001c0025t0063 | a0001c0009t0004g0287 a0001c0025t0063g0213 |
2 | 300 | 0.0067 | 48 | c.-41 others(65): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7449265 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0014 | a0001c0014t0016 | a0001c0014t0016g0139 | 1 | 165 | 0.0061 | 48 | c.548 others(67): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35906547 | T | TCCACCAC others(41): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 48 | c.-33 others(59): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2942 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906589 | A | ACCACCAC others(41): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 380 | 0.0053 | 48 | c.-32 others(59): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2900 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906595 | A | ACCACCAC others(41): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | 48 | c.-32 others(59): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2894 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914071 | T | TGTGTGTG others(41): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01074.hp1 others(58): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0013g0002 others(2): Show |
61 | 398 | 0.1533 | 48 | c.*33 others(59): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2386 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914150 | G | GTGTGTGT others(41): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 418 | 0.0072 | 48 | c.*34 others(59): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2465 | chr9 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 214177908 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 84 | 0.0119 | 48 | c.172 others(69): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214177916 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 16 | 0.0625 | 48 | c.172 others(69): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22413688 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 78 | 0.0128 | 48 | c.146 others(67): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51076997 | G | GCTAGCTA others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0002 | 1 | 279 | 0.0036 | 48 | c.424 others(65): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0218 | 1 | 91 | 0.0110 | 48 | c.*65 others(59): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172960875 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0117 | 1 | 79 | 0.0127 | 48 | c.934 others(65): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123118316 | A | ATATATTA others(41): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0015a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0015g0181 a0002c0002t0001g0160 a0002c0002t0001g0162 others(8): Show |
11 | 44 | 0.2500 | 48 | c.234 others(69): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPC25_chr2_168865891_168895430 | 168889011 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 5 | 283 | 0.0177 | 48 | c.199 others(63): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994418 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0003 | 1 | 163 | 0.0061 | 48 | c.-39 others(59): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3478 | chr7 | TogoVar |