Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPH3AL_chr17_207389_357807	273620	A A	AGCAAGGG others(21): Show AGCAAGGGTGACGTCGGGGAGAGACCCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	83	0.0120	28	c.438 others(45): Show c.438+8147_438+8148insAGGGGTCTCTCCCCGACGTCACCCTTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	273620	A A	AGCGAGGG others(21): Show AGCGAGGGCGACGTCGGGGAGAGACCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01978.hp1 HG02055.hp1 others(5): Show HG01255.hp1 HG01978.hp1 HG02055.hp1 HG02155.hp1 HG02818.hp1 NA18959.hp1 NA18983.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0003t0018	a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0003g0080 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0128 a0001c0001t0003g0080 a0001c0001t0004g0021 a0001c0001t0004g0087 a0001c0001t0006g0120 a0001c0001t0011g0003 a0001c0003t0018g0019	8	90	0.0889	28	c.438 others(45): Show c.438+8147_438+8148insAGGGGTCTCTCCCCGACGTCGCCCTCGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287553	C C	CCTCTCTC others(21): Show CCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	120	0.0083	28	c.352 others(45): Show c.352-5727_352-5700dupAGGGTGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288811	C C	CCTCTCTC others(21): Show CCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	126	0.0079	28	c.352 others(45): Show c.352-6985_352-6958dupAGGGTGCGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp2 HG02257.hp2 HG02280.hp2 others(12): Show HG01256.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03471.hp2 NA18964.hp2 NA19003.hp1 NA19087.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0029 others(7): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0029 a0001c0001t0030 a0001c0001t0123 a0001c0001t0126 a0001c0002t0029 a0001c0002t0030 a0002c0004t0124 a0002c0004t0125	a0001c0001t0003g0015 a0001c0001t0003g0107 a0001c0001t0003g0169 others(12): Show a0001c0001t0003g0015 a0001c0001t0003g0107 a0001c0001t0003g0169 a0001c0001t0003g0191 a0001c0001t0009g0045 a0001c0001t0009g0102 a0001c0001t0009g0159 a0001c0001t0029g0215 a0001c0001t0030g0082 a0001c0001t0123g0208 a0001c0001t0126g0109 a0001c0002t0029g0049 a0001c0002t0030g0188 a0002c0004t0124g0119 a0002c0004t0125g0081	15	21	0.7143	28	c.-27 others(37): Show c.-274_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGGGAGAG others(21): Show GGGGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp2 NA20300.hp1 HG01891.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0197 a0004c0007t0198 a0001c0002t0197 a0004c0007t0198	a0001c0002t0197g0098 a0004c0007t0198g0078 a0001c0002t0197g0098 a0004c0007t0198g0078	2	8	0.2500	28	c.-28 others(37): Show c.-284_-283insGGAGAGAGAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36450	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	28	c.-17 others(39): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	18	0.0556	28	c.20 others(39): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89556751	C C	CCAAGAAG others(21): Show CCAAGAAGGCTACGTCTACATGCACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	28	c.-39 others(39): Show c.-3982_-3981insCAAGAAGGCTACGTCTACATGCACACAT	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		3930		chr16	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	254	0.0039	28	c.72 others(39): Show c.7260_*7261insTAGATAGATAGATAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTGTCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02738.hp1 NA18977.hp1 HG02132.hp2 HG02738.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0013g0013 a0001c0001t0001g0001 a0001c0001t0013g0013	3	256	0.0117	28	c.72 others(39): Show c.7260_*7261insTAGATAGATAGACAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(21): Show GTCTGTCTGTCTGTCTGTCTGTCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	254	0.0039	28	c.72 others(39): Show c.7260_*7261insTAGATAGACAGACAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	8	0.1250	28	c.192 others(45): Show c.192+1014_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 NA18522.hp1 HG01109.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	63	0.0317	28	c.26 others(39): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL27_chr17_42993419_43007959	43007847	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG04204.hp2 HG03579.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0003 a0001c0001t0001g0038	2	24	0.0833	28	c.49 others(39): Show c.4927_*4928insTATATATATATATATATATATATATATA	RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding		4889		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01516.hp1 HG02015.hp1 others(4): Show HG00408.hp2 HG01516.hp1 HG02015.hp1 NA18980.hp1 NA19070.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	7	156	0.0449	28	c.44 others(39): Show c.4408_*4409insTATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	150	0.0067	28	c.44 others(39): Show c.4408_*4409insTATATATATATATATATATATATATACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	164	0.0061	28	c.-93 others(45): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPL5_chr1_92827040_92846924	92846860	T T	TACACGTA others(21): Show TACACGTATATATATATACATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	328	0.0030	28	c.49 others(39): Show c.4995_*4996insACACGTATATATATATACATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4937		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0273 a0001c0003t0008g0273	1	235	0.0043	28	c.790 others(47): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	208	0.0048	28	c.790 others(47): Show c.790-15276_790-15275insTATATATATATATATATATATATATA TA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00738.hp2 others(15): Show HG00280.hp2 HG00423.hp2 HG00738.hp2 HG01192.hp2 HG01934.hp2 HG02004.hp2 HG02145.hp1 HG02165.hp1 HG02738.hp2 NA18522.hp1 NA18963.hp1 NA18998.hp1 NA18998.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19068.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 others(15): Show a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0016g0195	18	25	0.7200	28	c.790 others(47): Show c.790-15278_790-15277insTATATATATATATATATATATACACA CA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(21): Show GTGTGTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	8	0.1250	28	c.790 others(47): Show c.790-15278_790-15277insTATATATATATATATATACATACACA CA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	8	0.1250	28	c.790 others(47): Show c.790-15278_790-15277insTATATATATATATATATATACACACA CA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	19	0.0526	28	c.-26 others(39): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS17_chr15_82531750_82545457	82542204	C C	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03209.hp2 NA19240.hp1 others(1): Show HG03139.hp2 HG03209.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0004 a0001c0001t0001g0035	4	191	0.0209	28	c.-17 others(39): Show c.-1777_-1776insTAAATAAATAAATAAATAAATAAATAAA	RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding		1748		chr15	TogoVar
RPS20_chr8_56068054_56079506	56072625	A A	AAGGTTTA others(21): Show AAGGTTTAGTTCCTAAAACCCTAAAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp1 others(14): Show HG01243.hp1 HG01884.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0017	17	330	0.0515	28	c.46 others(37): Show c.464_*465insAAGTTTTAGGGTTTTAGGAACTAAACCT	RPS20	ENSG00000008988.11	transcript	ENST00000009589.8	protein_coding		428		chr8	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG02129.hp1 others(5): Show HG00639.hp2 HG00741.hp1 HG02129.hp1 HG02273.hp2 NA18971.hp1 NA19010.hp2 NA19064.hp1 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0021 a0002c0002t0023 a0002c0002t0006 a0002c0002t0021 a0002c0002t0023	a0002c0002t0006g0028 a0002c0002t0006g0031 a0002c0002t0006g0033 others(5): Show a0002c0002t0006g0028 a0002c0002t0006g0031 a0002c0002t0006g0033 a0002c0002t0006g0035 a0002c0002t0006g0036 a0002c0002t0006g0038 a0002c0002t0021g0016 a0002c0002t0023g0062	8	215	0.0372	28	c.501 others(45): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84150830	G G	GAGAGGAT others(21): Show GAGAGGATATATATAGGATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG02896.hp2 others(6): Show HG00735.hp1 HG00738.hp1 HG02896.hp2 HG03041.hp2 HG03225.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0029 a0001c0001t0007 a0001c0001t0028 a0001c0001t0029	a0001c0001t0007g0006 a0001c0001t0007g0073 a0001c0001t0007g0083 others(5): Show a0001c0001t0007g0006 a0001c0001t0007g0073 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0007g0089 a0001c0001t0028g0085 a0001c0001t0028g0086 a0001c0001t0029g0082	9	268	0.0336	28	c.259 others(45): Show c.259-2735_259-2708dupATATATATATATCCTATATATATCCTCT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02083.hp2 NA18949.hp2 others(1): Show HG02074.hp2 HG02083.hp2 NA18949.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0075 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0060 a0001c0001t0001g0075 a0002c0002t0001g0254	4	100	0.0400	28	c.472 others(43): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205533	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	327	0.0031	28	c.104 others(49): Show c.1045-24962_1045-24961insATATATATATATATATATATATAT ATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02148.hp2 NA18522.hp1 others(4): Show HG02129.hp2 HG02148.hp2 NA18522.hp1 NA18948.hp2 NA18970.hp1 NA19007.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0223 a0001c0001t0001g0304 a0002c0002t0001g0259	7	142	0.0493	28	c.104 others(49): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA TATA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205547	G G	GATATAGA others(21): Show GATATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	127	0.0079	28	c.104 others(49): Show c.1045-24945_1045-24944insGATATATATATATATATATATATA TATA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6_chr9_19370715_19385236	19383938	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG02895.hp1 HG02896.hp2 HG02897.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	411	0.0097	28	c.-37 others(39): Show c.-3744_-3743insGCACACACACACACACACACACACACAC	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding		3703		chr9	TogoVar
RPTOR_chr17_80539838_80971368	80617987	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0018 a0001c0012t0018	a0001c0012t0018g0185 a0001c0012t0018g0185	1	187	0.0053	28	c.163 others(45): Show c.163-7693_163-7692insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0049 a0001c0001t0019g0049	1	38	0.0263	28	c.349 others(47): Show c.349-22213_349-22212insATATATATATATATATATATTTTTTT TT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(21): Show ATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0045 a0001c0003t0013g0045	1	38	0.0263	28	c.349 others(47): Show c.349-22213_349-22212insATATATATATATATATTTTTTTTTTT TT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963814	G G	GCTGTGCG others(21): Show GCTGTGCGGCCGAGTCCTCACCCTGTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01258.hp2 HG01884.hp1 others(9): Show HG01074.hp1 HG01258.hp2 HG01884.hp1 HG02280.hp2 HG02647.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0009 a0001c0011 others(8): Show a0001c0007 a0001c0009 a0001c0011 a0001c0032 a0001c0033 a0001c0064 a0001c0066 a0001c0072 a0001c0088 a0001c0089 a0002c0063	a0001c0007t0069 a0001c0007t0090 a0001c0009t0005 others(9): Show a0001c0007t0069 a0001c0007t0090 a0001c0009t0005 a0001c0011t0047 a0001c0032t0098 a0001c0033t0099 a0001c0064t0005 a0001c0066t0058 a0001c0072t0005 a0001c0088t0006 a0001c0089t0005 a0002c0063t0020	a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0009t0005g0143 others(9): Show a0001c0007t0069g0128 a0001c0007t0090g0025 a0001c0009t0005g0143 a0001c0011t0047g0079 a0001c0032t0098g0052 a0001c0033t0099g0026 a0001c0064t0005g0074 a0001c0066t0058g0126 a0001c0072t0005g0076 a0001c0088t0006g0142 a0001c0089t0005g0159 a0002c0063t0020g0001	12	177	0.0678	28	c.394 others(45): Show c.3940-436_3940-409dupAGTCCTCACCCTGTCCCCTGTGCGGCCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp1 NA18959.hp2 others(4): Show HG00621.hp2 HG02015.hp1 NA18959.hp2 NA18963.hp1 NA19003.hp1 NA19063.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0051 a0001c0001t0002 a0001c0001t0018 a0001c0001t0051	a0001c0001t0002g0012 a0001c0001t0002g0115 a0001c0001t0002g0149 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0115 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0018g0142 a0001c0001t0051g0136	7	117	0.0598	28	c.445 others(45): Show c.445-2034_445-2033insATATATATATATATATATATATATATAT	RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6			chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03453.hp1 HG02015.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0204 a0001c0001t0001g0083 a0001c0001t0001g0204	2	53	0.0377	28	c.408 others(45): Show c.408+1319_408+1346dupATATATATATATATATATATATATATAT	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RRAS2_chr11_14272922_14364183	14293161	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	278	0.0036	28	c.408 others(45): Show c.408+1309_408+1310insGATATATATATATATATATATATATATA	RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5			chr11	TogoVar
RREB1_chr6_7102961_7256980	7103275	T T	TATATATG others(21): Show TATATATGTTAATTAACATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0214 a0001c0001t0017g0214	1	250	0.0040	28	c.-50 others(39): Show c.-5070_-5069insATATATGTTAATTAACATATAATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4685		chr6	TogoVar
RREB1_chr6_7102961_7256980	7117388	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0003 a0009c0021t0003	a0009c0021t0003g0011 a0009c0021t0003g0011	1	35	0.0286	28	c.-28 others(47): Show c.-285+9338_-285+9365dupTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01496.hp1 HG02300.hp1 others(5): Show HG00609.hp1 HG01496.hp1 HG02300.hp1 NA18942.hp2 NA18953.hp1 NA18972.hp1 NA19006.hp2 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0172 a0001c0003t0002g0242 a0001c0003t0002g0248 others(5): Show a0001c0003t0002g0172 a0001c0003t0002g0242 a0001c0003t0002g0248 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0262 a0001c0003t0002g0276	8	116	0.0690	28	c.176 others(45): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	263	0.0038	28	c.685 others(45): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RRP12_chr10_97351701_97406340	97404752	A A	AATAGATA others(21): Show AATAGATAGATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0087 a0001c0005t0001g0087	1	184	0.0054	28	c.-35 others(39): Show c.-3522_-3521insCTATCTATCTATCTATCTATCTATCTAT	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding		3413		chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509848	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18970.hp2 NA19054.hp1 NA18970.hp2 NA19054.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0032 a0002c0001t0031g0032	2	352	0.0057	28	c.30 others(39): Show c.3061_*3062insACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3061		chr22	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00621.hp2 others(26): Show HG00408.hp1 HG00438.hp1 HG00621.hp2 HG02040.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG02622.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03491.hp2 HG03579.hp1 HG03704.hp1 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18967.hp2 NA18970.hp1 NA18975.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp2 NA19064.hp1 NA19076.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0001c0017 a0002c0001 others(2): Show a0001c0006 a0001c0017 a0002c0001 a0002c0016 a0004c0005	a0001c0006t0083 a0001c0006t0121 a0001c0017t0097 others(10): Show a0001c0006t0083 a0001c0006t0121 a0001c0017t0097 a0002c0001t0005 a0002c0001t0057 a0002c0001t0058 a0002c0001t0060 a0002c0001t0064 a0002c0001t0071 a0002c0001t0078 a0002c0016t0005 a0004c0005t0088 a0004c0005t0110	a0001c0006t0083g0202 a0001c0006t0121g0199 a0001c0017t0097g0163 others(18): Show a0001c0006t0083g0202 a0001c0006t0121g0199 a0001c0017t0097g0163 a0002c0001t0005g0009 a0002c0001t0005g0010 a0002c0001t0005g0028 a0002c0001t0005g0029 a0002c0001t0005g0071 a0002c0001t0005g0074 a0002c0001t0005g0107 a0002c0001t0005g0112 a0002c0001t0005g0113 a0002c0001t0057g0064 a0002c0001t0058g0079 a0002c0001t0060g0081 a0002c0001t0064g0083 a0002c0001t0071g0098 a0002c0001t0078g0105 a0002c0016t0005g0101 a0004c0005t0088g0219 a0004c0005t0110g0226	29	157	0.1847	28	c.30 others(39): Show c.3059_*3060insACACACACACACACACACACACACACAC	RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7	3059		chr22	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19066.hp1 NA20905.hp2 HG02615.hp1 NA19066.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0003 a0001c0001t0003 a0001c0009t0003	a0001c0001t0003g0034 a0001c0001t0003g0174 a0001c0009t0003g0179 a0001c0001t0003g0034 a0001c0001t0003g0174 a0001c0009t0003g0179	3	103	0.0291	28	c.587 others(47): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	84	0.0119	28	c.51 others(39): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding		1297		chr7	TogoVar

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