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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0101 others(34): Show |
40 | 318 | 0.1258 | 26 | c.790 others(45): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD2_chr1_150359147_150481566 | 150431473 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 318 | 0.0031 | 26 | c.336 others(43): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS10_chr6_34412454_34431069 | 34424140 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 390 | 0.0026 | 26 | c.322 others(41): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34427078 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03471.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0057 a0001c0001t0002g0058 |
3 | 390 | 0.0077 | 26 | c.-10 others(37): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 1010 | chr6 | TogoVar | |||||||
RPS27L_chr15_63143249_63162477 | 63146250 | A | ATTTTAAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG02015.hp2 HG02027.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0042 | a0001c0001t0001g0001 a0001c0001t0007g0009 a0001c0001t0042g0106 |
12 | 430 | 0.0279 | 26 | c.*77 others(37): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 1998 | chr15 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480514 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0017 | a0001c0015t0017g0020 | 1 | 244 | 0.0041 | 26 | c.907 others(43): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84140758 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02132.hp1 NA18946.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0022others(1): Show | a0002c0002t0003g0043 a0002c0002t0003g0046 a0002c0002t0007g0035 others(2): Show |
5 | 272 | 0.0184 | 26 | c.501 others(43): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 6/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84150848 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0091 | 1 | 272 | 0.0037 | 26 | c.259 others(43): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3/21 | chrX | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84150910 | G | GAGAGGAT others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0110 | a0001c0001t0002g0165 a0001c0001t0110g0257 |
2 | 272 | 0.0074 | 26 | c.259 others(43): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3/21 | chrX | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213205536 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00741.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0084 others(7): Show |
10 | 330 | 0.0303 | 26 | c.104 others(47): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6_chr9_19370715_19385236 | 19383938 | T | TGTGTGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 |
5 | 422 | 0.0119 | 26 | c.-37 others(37): Show |
RPS6 | ENSG00000137154.13 | transcript | ENST00000380394.9 | protein_coding | 3703 | chr9 | TogoVar | |||||||
RPS7_chr2_3570260_3585920 | 3584956 | T | TGATTTTG others(19): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 26 | c.*40 others(37): Show |
RPS7 | ENSG00000171863.15 | transcript | ENST00000645674.2 | protein_coding | 4037 | chr2 | TogoVar | |||||||
RPS9_chr19_54195858_54212647 | 54197713 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 457 | 0.0022 | 26 | c.-32 others(37): Show |
RPS9 | ENSG00000170889.14 | transcript | ENST00000302907.9 | protein_coding | 3144 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80681564 | T | TTCTCTTA others(19): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 |
a0001 | a0001c0015 | a0001c0015t0008 | a0001c0015t0008g0139 a0001c0015t0008g0146 |
2 | 196 | 0.0102 | 26 | c.349 others(45): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPUSD2_chr15_40564299_40579949 | 40577080 | A | ATTTTATT others(19): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 392 | 0.0051 | 26 | c.*28 others(37): Show |
RPUSD2 | ENSG00000166133.18 | transcript | ENST00000315616.12 | protein_coding | 2132 | chr15 | TogoVar | |||||||
RPUSD4_chr11_126197096_126216650 | 126210520 | T | TACATACA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0069 | 1 | 416 | 0.0024 | 26 | c.355 others(41): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
RRAD_chr16_66916685_66930535 | 66921293 | T | TCTGGTTG others(19): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 386 | 0.0026 | 26 | c.*78 others(35): Show |
RRAD | ENSG00000166592.13 | transcript | ENST00000299759.11 | protein_coding | 391 | chr16 | TogoVar | |||||||
RRAGB_chrX_55712749_55763774 | 55743911 | A | AACTTTCT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 276 | 0.0036 | 26 | c.517 others(43): Show |
RRAGB | ENSG00000083750.13 | transcript | ENST00000374941.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RRAGD_chr6_89359616_89417273 | 89382400 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp2 HG03225.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0026 | a0001c0001t0002g0003 a0001c0001t0002g0106 a0001c0001t0002g0118 others(6): Show |
11 | 372 | 0.0296 | 26 | c.445 others(43): Show |
RRAGD | ENSG00000025039.15 | transcript | ENST00000369415.9 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14302073 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19055.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0102 a0001c0001t0002g0140 a0001c0001t0003g0270 |
3 | 279 | 0.0108 | 26 | c.109 others(43): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RRBP1_chr20_17608679_17687242 | 17665084 | G | GTGTATAC others(19): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0238 | 1 | 350 | 0.0029 | 26 | c.-21 others(43): Show |
RRBP1 | ENSG00000125844.17 | transcript | ENST00000377813.6 | protein_coding | 2/24 | chr20 | TogoVar | |||||||
RREB1_chr6_7102961_7256980 | 7117388 | G | GTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0155 | 1 | 292 | 0.0034 | 26 | c.-28 others(45): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7141206 | C | CGCCGATT others(19): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18946.hp2 NA18949.hp1 others(1): Show |
a0001a0007 | a0001c0049a0007c0006 | a0001c0049t0003a0007c0006t0004a0007c0006t0070 | a0001c0049t0003g0078 a0007c0006t0004g0084 a0007c0006t0004g0085 others(1): Show |
4 | 292 | 0.0137 | 26 | c.-28 others(47): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RRM1_chr11_4089799_4143932 | 4130066 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02083.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0069 a0001c0001t0001g0184 a0001c0001t0001g0205 others(7): Show |
10 | 368 | 0.0272 | 26 | c.176 others(43): Show |
RRM1 | ENSG00000167325.15 | transcript | ENST00000300738.10 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42509848 | G | GGTGTGTG others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01978.hp1 NA19007.hp1 NA19012.hp1 |
a0002a0003 | a0002c0001a0003c0004 | a0002c0001t0033a0003c0004t0130 | a0002c0001t0033g0033 a0003c0004t0130g0226 |
3 | 388 | 0.0077 | 26 | c.*30 others(37): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 7/7 | 3061 | chr22 | TogoVar | ||||||
RRP7A_chr22_42503344_42524796 | 42509850 | G | GGTGTGTG others(19): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01123.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0006a0002c0001a0004c0005others(2): Show | a0001c0006t0081a0002c0001t0004a0002c0001t0065others(7): Show | a0001c0006t0081g0204 a0002c0001t0004g0003 a0002c0001t0004g0061 others(13): Show |
29 | 388 | 0.0747 | 26 | c.*30 others(37): Show |
RRP7A | ENSG00000189306.11 | transcript | ENST00000323013.7 | protein_coding | 7/7 | 3059 | chr22 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77725244 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0004t0005 | a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0004g0144 others(2): Show |
5 | 336 | 0.0149 | 26 | c.587 others(45): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSBN1L_chr7_77691459_77788022 | 77784318 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 | 1 | 336 | 0.0030 | 26 | c.*51 others(37): Show |
RSBN1L | ENSG00000187257.16 | transcript | ENST00000334955.13 | protein_coding | 1297 | chr7 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77658011 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 NA19056.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0063a0005c0007t0064 | a0001c0001t0063g0289 a0005c0007t0064g0321 |
2 | 352 | 0.0057 | 26 | c.*89 others(37): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 1997 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77686408 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0052a0002c0003t0002 | a0001c0001t0052g0265 a0002c0003t0002g0238 |
2 | 352 | 0.0057 | 26 | c.290 others(45): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
RSF1_chr11_77655009_77825722 | 77729895 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03209.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0009 | a0001c0001t0005g0263 a0001c0001t0008g0268 a0001c0001t0009g0245 |
3 | 352 | 0.0085 | 26 | c.579 others(43): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
RSPH10B2_chr7_6749103_6803765 | 6797872 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0010 | a0010c0023 | a0010c0023t0004 | a0010c0023t0004g0090 | 1 | 108 | 0.0093 | 26 | c.243 others(43): Show |
RSPH10B2 | ENSG00000169402.16 | transcript | ENST00000404077.6 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RSPH14_chr22_23054415_23146990 | 23130496 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp2 others(40): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0167 others(40): Show |
43 | 314 | 0.1369 | 26 | c.421 others(43): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
RSPH3_chr6_158967871_159005202 | 158984434 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0178 | 1 | 302 | 0.0033 | 26 | c.347 others(41): Show |
RSPH3 | ENSG00000130363.13 | transcript | ENST00000367069.7 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
RSPH3_chr6_158967871_159005202 | 158984434 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG02027.hp1 others(3): Show |
a0002a0003a0004 | a0002c0002a0003c0004a0004c0003 | a0002c0002t0002a0002c0002t0035a0003c0004t0010others(1): Show | a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0191 others(3): Show |
6 | 302 | 0.0199 | 26 | c.347 others(41): Show |
RSPH3 | ENSG00000130363.13 | transcript | ENST00000367069.7 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
RSPRY1_chr16_57181329_57245469 | 57202878 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0348 | 1 | 358 | 0.0028 | 26 | c.-15 others(45): Show |
RSPRY1 | ENSG00000159579.14 | transcript | ENST00000394420.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158106571 | C | CAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0052 a0001c0001t0002g0265 |
2 | 276 | 0.0073 | 26 | c.-36 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3517 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 276 | 0.0036 | 26 | c.321 others(41): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158202562 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0073 others(8): Show |
11 | 276 | 0.0399 | 26 | c.321 others(41): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228865 | A | ATGTATAT others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(66): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0259 others(66): Show |
69 | 276 | 0.2500 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228957 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0262 a0001c0001t0012g0264 |
2 | 276 | 0.0073 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228963 | T | TACGTGTA others(19): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0128 a0001c0001t0008g0116 |
2 | 276 | 0.0073 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158229013 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02647.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0032 a0001c0001t0002g0251 a0001c0001t0002g0252 others(5): Show |
8 | 276 | 0.0290 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158229091 | C | CACACATA others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 276 | 0.0036 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158229350 | A | AAACATAC others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0087 | 1 | 276 | 0.0036 | 26 | c.494 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02723.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0040 a0001c0001t0014g0274 |
2 | 276 | 0.0073 | 26 | c.652 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158477798 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 276 | 0.0036 | 26 | c.652 others(45): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158549528 | A | AAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0156 a0001c0001t0014g0274 |
2 | 276 | 0.0073 | 26 | c.*52 others(37): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 3799 | chr3 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16683160 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02056.hp2 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0029others(3): Show | a0001c0001t0002g0033 a0001c0001t0004g0076 a0001c0001t0029g0010 others(3): Show |
6 | 190 | 0.0316 | 26 | c.731 others(45): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
RSU1_chr10_16585611_16822424 | 16722849 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 190 | 0.0053 | 26 | c.599 others(45): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 7/8 | chr10 | TogoVar |