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	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
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(17): Show GAGAGAGAGAGAGAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0023 a0001c0002t0007g0023	1	446	0.0022	24	c.-45 others(35): Show c.-4522_-4521insAGAGAGAGAGAGAGAAAGAAAGAA		RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding					4415		chr17	TogoVar
RPL7_chr8_73285242_73298633	73291271	T T	TTTAAGAT others(17): Show TTTAAGATTATTAAAGTTGCAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	448	0.0022	24	c.539 others(37): Show c.539-43_539-20dupTTTTTGCAACTTTAATAATCTTAA		RPL7	ENSG00000147604.14	transcript	ENST00000352983.7	protein_coding	5/6						chr8	TogoVar
RPN2_chr20_37174330_37246619	37187501	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	346	0.0029	24	c.207 others(41): Show c.207+3147_207+3148insAAAAAAAAAAAAAAAAAAAAAAAA		RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
RPRD2_chr1_150359147_150481566	150422340	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0022 a0003c0005t0022	a0003c0005t0022g0208 a0003c0005t0022g0208	1	318	0.0031	24	c.335 others(41): Show c.335+4621_335+4644dupTAATAATAATAATAATAATAATAA		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150422367	T T	TAATAATA others(17): Show TAATAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03831.hp1 HG04228.hp1 HG00639.hp2 HG03831.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0039 a0001c0001t0004 a0001c0001t0039	a0001c0001t0004g0260 a0001c0001t0004g0265 a0001c0001t0039g0257 a0001c0001t0004g0260 a0001c0001t0004g0265 a0001c0001t0039g0257	3	318	0.0094	24	c.335 others(41): Show c.335+4644_335+4645insTAATAATAATAATAATAATAAAAA		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRML_chr17_46973156_46984253	46980666	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 NA19063.hp1 NA20905.hp1 HG00673.hp1 NA19063.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	452	0.0066	24	c.-16 others(35): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTTTTTTTT		RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding					1414		chr17	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp1 HG02258.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0055 a0001c0001t0002g0062	2	390	0.0051	24	c.-10 others(35): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding					1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG02896.hp2 others(1): Show HG01109.hp2 HG02257.hp2 HG02896.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	4	352	0.0114	24	c.-26 others(35): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS14_chr5_150437635_150454739	150439055	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG04228.hp2 NA18944.hp2 others(1): Show HG00558.hp1 HG04228.hp2 NA18944.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0056 a0001c0001t0003g0003 a0001c0002t0002g0002 others(1): Show a0001c0001t0001g0056 a0001c0001t0003g0003 a0001c0002t0002g0002 a0001c0002t0005g0008	4	414	0.0097	24	c.52 others(35): Show c.5230_*5231insCCTTCCTTCCTTCCTTCCTTCCTT		RPS14	ENSG00000164587.13	transcript	ENST00000407193.7	protein_coding					3579		chr5	TogoVar
RPS16_chr19_39428137_39440949	39431449	G G	GCTCACGC others(17): Show GCTCACGCCTGTTAATCCCAGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	410	0.0024	24	c.18 others(35): Show c.1823_*1824insAGTGCTGGGATTAACAGGCGTGAG		RPS16	ENSG00000105193.9	transcript	ENST00000251453.8	protein_coding					1687		chr19	TogoVar
RPS17_chr15_82531750_82545457	82542204	C C	CTTTATTT others(17): Show CTTTATTTATTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02965.hp1 HG02976.hp2 others(1): Show HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0004 a0001c0001t0001g0018	4	455	0.0088	24	c.-17 others(35): Show c.-1777_-1776insTAAATAAATAAATAAATAAATAAA		RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding					1748		chr15	TogoVar
RPS24_chr10_78028863_78045697	78030446	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	430	0.0023	24	c.-34 others(35): Show c.-3456_-3455insTATATATATATATATATATATATA		RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding					3416		chr10	TogoVar
RPS24_chr10_78028863_78045697	78035531	C C	CGGGAAGG others(17): Show CGGGAAGGCGACAGTGCCTAAGACA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0045 a0002c0006t0001g0045	1	430	0.0023	24	c.92_ others(30): Show c.92_115dupGGAAGGCGACAGTGCCTAAGACAG	p.Gly others(11): Show p.Gly31_Thr38dup	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding	3/6	155/534	116/393	39/130		INFO_REALIGN_3_PRIME	chr10	TogoVar
RPS6KA2_chr6_166404364_166632251	166449850	A A	AGGACCAC others(17): Show AGGACCACCATGGGAACCACCACGC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	244	0.0041	24	c.120 others(43): Show c.1207-1025_1207-1002dupGCGTGGTGGTTCCCATGGTGGTCC		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0008 a0001c0002t0013g0008	1	244	0.0041	24	c.907 others(41): Show c.907+8330_907+8353dupTATATATATATATATATATATATA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166517450	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0178 a0001c0008t0006g0178	1	244	0.0041	24	c.299 others(41): Show c.299-7094_299-7093insAAAAAAAAAAAAAAAAAAAAAAAA		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20						chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	90885552	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0239 a0001c0001t0011g0239	1	306	0.0033	24	c.183 others(43): Show c.1836+4911_1836+4934dupTTTTTTTTTTTTTTTTTTTTTTTT		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16						chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03239.hp1 NA18940.hp1 others(3): Show HG02523.hp2 HG03239.hp1 NA18940.hp1 NA18957.hp1 NA18969.hp2 NA19072.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0003 a0002c0002t0007	a0002c0002t0003g0030 a0002c0002t0003g0044 a0002c0002t0003g0045 others(3): Show a0002c0002t0003g0030 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0055 a0002c0002t0003g0068 a0002c0002t0007g0028	6	272	0.0221	24	c.501 others(41): Show c.501+4719_501+4720insATATATATATATATATATATATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213071823	T T	TTAAGTTA others(17): Show TTAAGTTAGTAAGTTCTTTTGCAGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03139.hp1 NA18906.hp2 others(1): Show HG00642.hp2 HG03139.hp1 NA18906.hp2 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0270 a0004c0004t0005g0271 a0004c0004t0005g0272 others(1): Show a0004c0004t0005g0270 a0004c0004t0005g0271 a0004c0004t0005g0272 a0004c0004t0005g0273	4	330	0.0121	24	c.141 others(39): Show c.141+784_141+807dupAAGTTAGTAAGTTCTTTTGCAGAT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00558.hp2 others(22): Show HG00099.hp1 HG00140.hp1 HG00558.hp2 HG01261.hp1 HG01943.hp1 HG02300.hp2 HG02976.hp1 HG03453.hp2 HG03654.hp2 HG03834.hp1 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18983.hp1 NA18985.hp2 NA19010.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0015 a0001c0005t0006 a0002c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0035 others(22): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0012g0315 a0001c0001t0015g0219 a0001c0005t0006g0232 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0267	25	330	0.0758	24	c.104 others(45): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATTTAT others(17): Show TTATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	330	0.0030	24	c.104 others(45): Show c.1045-24958_1045-24957insTTATATATATATATATATATATAT		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(17): Show GATATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	330	0.0030	24	c.104 others(45): Show c.1045-24945_1045-24944insGATATATATATATATATATATATA		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(17): Show TGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	24	c.-37 others(35): Show c.-3744_-3743insGCACACACACACACACACACACAC		RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding					3703		chr9	TogoVar
RPS9_chr19_54195858_54212647	54197713	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG03927.hp2 HG02738.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	2	457	0.0044	24	c.-32 others(35): Show c.-3201_-3200insTTTTTTTTTTTTTTTTTTTTTTTT		RPS9	ENSG00000170889.14	transcript	ENST00000302907.9	protein_coding					3144		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80617987	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0070 a0001c0070	a0001c0070t0020 a0001c0070t0020	a0001c0070t0020g0003 a0001c0070t0020g0003	1	196	0.0051	24	c.163 others(41): Show c.163-7693_163-7692insTTTTTTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665520	T T	TGTCCTTT others(17): Show TGTCCTTTCCTTTCATGTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0087 a0001c0006t0087	a0001c0006t0087g0013 a0001c0006t0087g0013	1	196	0.0051	24	c.348 others(43): Show c.348+21710_348+21711insGTCCTTTCCTTTCATGTCCTTTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80676029	A A	ATGTAGCA others(17): Show ATGTAGCAGAGTGTCTAGTATCAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(19): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG01361.hp1 HG01978.hp1 HG02015.hp1 HG02165.hp1 HG02486.hp2 HG02602.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp2 HG03453.hp1 HG03540.hp1 HG04204.hp1 NA18747.hp1 NA18963.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(15): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0001c0023 a0001c0024 a0001c0031 a0001c0034 a0001c0058 a0001c0066 a0001c0074	a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 others(17): Show a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0004t0001 a0001c0008t0036 a0001c0008t0054 a0001c0009t0001 a0001c0013t0013 a0001c0015t0008 a0001c0016t0029 a0001c0018t0017 a0001c0019t0003 a0001c0022t0001 a0001c0023t0008 a0001c0024t0003 a0001c0031t0027 a0001c0034t0004 a0001c0058t0004 a0001c0066t0058 a0001c0074t0032	a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 others(19): Show a0001c0002t0008g0131 a0001c0002t0017g0118 a0001c0003t0001g0154 a0001c0004t0001g0152 a0001c0008t0036g0002 a0001c0008t0054g0169 a0001c0009t0001g0125 a0001c0013t0013g0062 a0001c0015t0008g0139 a0001c0015t0008g0146 a0001c0016t0029g0193 a0001c0018t0017g0140 a0001c0019t0003g0135 a0001c0022t0001g0132 a0001c0022t0001g0170 a0001c0023t0008g0134 a0001c0024t0003g0129 a0001c0031t0027g0173 a0001c0034t0004g0133 a0001c0058t0004g0156 a0001c0066t0058g0126 a0001c0074t0032g0061	22	196	0.1122	24	c.349 others(43): Show c.349-31806_349-31805insAGAGTGTCTAGTATCAAGTGTAGC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685602	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0048 a0001c0024t0002g0048	1	196	0.0051	24	c.349 others(43): Show c.349-22236_349-22213dupATATATATATATATATATATATAT		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(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0024 a0001c0011t0024	a0001c0011t0024g0147 a0001c0011t0024g0147	1	196	0.0051	24	c.349 others(43): Show c.349-22213_349-22212insATATATATATATATATATATATTT		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(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA20300.hp1 NA18747.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0013 a0001c0002t0002 a0001c0006t0013	a0001c0002t0002g0027 a0001c0006t0013g0068 a0001c0002t0002g0027 a0001c0006t0013g0068	2	196	0.0102	24	c.349 others(43): Show c.349-22213_349-22212insATATATATATATATATATATTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80711744	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02630.hp2 others(3): Show HG02145.hp2 HG02258.hp2 HG02630.hp2 HG02922.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0009 others(3): Show a0001c0005 a0001c0006 a0001c0009 a0001c0021 a0001c0047 a0001c0056	a0001c0005t0083 a0001c0006t0082 a0001c0009t0006 others(3): Show a0001c0005t0083 a0001c0006t0082 a0001c0009t0006 a0001c0021t0065 a0001c0047t0012 a0001c0056t0001	a0001c0005t0083g0017 a0001c0006t0082g0015 a0001c0009t0006g0142 others(3): Show a0001c0005t0083g0017 a0001c0006t0082g0015 a0001c0009t0006g0142 a0001c0021t0065g0112 a0001c0047t0012g0150 a0001c0056t0001g0107	6	196	0.0306	24	c.507 others(41): Show c.507+3761_507+3762insTTTTTTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80728446	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18980.hp1 HG01099.hp2 NA18980.hp1	a0001 a0001	a0001c0006 a0001c0055 a0001c0006 a0001c0055	a0001c0006t0022 a0001c0055t0049 a0001c0006t0022 a0001c0055t0049	a0001c0006t0022g0090 a0001c0055t0049g0083 a0001c0006t0022g0090 a0001c0055t0049g0083	2	196	0.0102	24	c.508 others(41): Show c.508-2111_508-2088dupGTGTGTGTGTGTGTGTGTGTGTGT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963403	G G	GTGCGGCC others(17): Show GTGCGGCCCTCACCCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	196	0.0051	24	c.393 others(41): Show c.3939+361_3939+362insCGTCCCCTCTGCGGCCCTCACCCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963472	G G	GTGCGGCC others(17): Show GTGCGGCCCTCACCCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	24	c.393 others(41): Show c.3939+430_3939+431insCGTCCCCTCTGCGGCCCTCACCCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD4_chr11_126197096_126216650	126210520	T T	TACATACA others(17): Show TACATACATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19030.hp1 HG01123.hp1 NA19030.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0067 a0002c0001t0001g0068	2	416	0.0048	24	c.355 others(39): Show c.355+369_355+370insGTGTGTGTGTGTGTGTATGTATGT		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding	2/6						chr11	TogoVar
RRAD_chr16_66916685_66930535	66924678	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19070.hp1 NA19076.hp1 NA19063.hp1 NA19070.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	3	386	0.0078	24	c.370 others(39): Show c.370+131_370+132insATTATTATTATTATTATTATTATT		RRAD	ENSG00000166592.13	transcript	ENST00000299759.11	protein_coding	2/4						chr16	TogoVar
RRAGB_chrX_55712749_55763774	55744387	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	276	0.0036	24	c.517 others(41): Show c.517-6697_517-6696insAAAAAAAAAAAAAAAAAAAAAAAA		RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
RRAGD_chr6_89359616_89417273	89382400	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp1 HG02273.hp2 others(4): Show HG01261.hp2 HG02148.hp1 HG02273.hp2 HG03453.hp2 NA18946.hp2 NA18956.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0119 others(4): Show a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0043g0032	7	372	0.0188	24	c.445 others(41): Show c.445-2034_445-2033insATATATATATATATATATATATAT		RRAGD	ENSG00000025039.15	transcript	ENST00000369415.9	protein_coding	2/6						chr6	TogoVar
RRAS2_chr11_14272922_14364183	14293124	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	279	0.0036	24	c.408 others(41): Show c.408+1323_408+1346dupATATATATATATATATATATATAT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	4/5						chr11	TogoVar
RRAS2_chr11_14272922_14364183	14302073	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19065.hp2 HG02004.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0135 a0001c0001t0003g0273 a0001c0001t0002g0135 a0001c0001t0003g0273	2	279	0.0072	24	c.109 others(41): Show c.109-6242_109-6219dupGTGTGTGTGTGTGTGTGTGTGTGT		RRAS2	ENSG00000133818.14	transcript	ENST00000256196.9	protein_coding	1/5						chr11	TogoVar
RRBP1_chr20_17608679_17687242	17685254	A A	AGAAGGGG others(17): Show AGAAGGGGAAGGGGAAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01167.hp1 HG01243.hp2 others(36): Show HG00423.hp1 HG01167.hp1 HG01243.hp2 HG02055.hp2 HG02129.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0005 others(15): Show a0001 a0002 a0005 a0012 a0016 a0017 a0018 a0020 a0022 a0036 a0043 a0049 a0052 a0053 a0055 a0056 a0060 a0073	a0001c0012 a0002c0001 a0002c0095 others(18): Show a0001c0012 a0002c0001 a0002c0095 a0005c0008 a0012c0018 a0012c0019 a0016c0015 a0017c0020 a0017c0083 a0018c0017 a0020c0067 a0022c0075 a0036c0070 a0043c0044 a0049c0105 a0052c0108 a0053c0091 a0055c0052 a0056c0118 a0060c0084 a0073c0068	a0001c0012t0005 a0002c0001t0001 a0002c0095t0001 others(19): Show a0001c0012t0005 a0002c0001t0001 a0002c0095t0001 a0005c0008t0002 a0005c0008t0011 a0012c0018t0002 a0012c0019t0002 a0016c0015t0002 a0017c0020t0002 a0017c0083t0002 a0018c0017t0002 a0020c0067t0002 a0022c0075t0002 a0036c0070t0002 a0043c0044t0002 a0049c0105t0002 a0052c0108t0002 a0053c0091t0003 a0055c0052t0002 a0056c0118t0016 a0060c0084t0002 a0073c0068t0008	a0001c0012t0005g0006 a0001c0012t0005g0149 a0002c0001t0001g0228 others(32): Show a0001c0012t0005g0006 a0001c0012t0005g0149 a0002c0001t0001g0228 a0002c0095t0001g0158 a0005c0008t0002g0247 a0005c0008t0002g0248 a0005c0008t0002g0252 a0005c0008t0002g0253 a0005c0008t0002g0254 a0005c0008t0002g0257 a0005c0008t0011g0249 a0012c0018t0002g0011 a0012c0018t0002g0287 a0012c0019t0002g0286 a0016c0015t0002g0141 a0016c0015t0002g0148 a0016c0015t0002g0160 a0016c0015t0002g0282 a0017c0020t0002g0161 a0017c0020t0002g0163 a0017c0020t0002g0164 a0017c0083t0002g0162 a0018c0017t0002g0003 a0018c0017t0002g0285 a0020c0067t0002g0157 a0022c0075t0002g0289 a0036c0070t0002g0284 a0043c0044t0002g0159 a0049c0105t0002g0250 a0052c0108t0002g0251 a0053c0091t0003g0239 a0055c0052t0002g0255 a0056c0118t0016g0256 a0060c0084t0002g0288 a0073c0068t0008g0015	39	350	0.1114	24	c.-33 others(35): Show c.-3326_-3325insCCCTTCCCCTTCCCCTTCCCCTTC		RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding					3013		chr20	TogoVar
RREB1_chr6_7102961_7256980	7117388	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0005 a0010c0015t0005	a0010c0015t0005g0010 a0010c0015t0005g0010	1	292	0.0034	24	c.-28 others(43): Show c.-285+9342_-285+9365dupTTTTTTTTTTTTTTTTTTTTTTTT		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
RREB1_chr6_7102961_7256980	7211338	A A	AGATGGAT others(17): Show AGATGGATGGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0004 a0005c0002t0004	a0005c0002t0004g0081 a0005c0002t0004g0081	1	292	0.0034	24	c.571 others(39): Show c.571-205_571-182dupATGGATGGATGGATGGATGGATGG		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
RRM1_chr11_4089799_4143932	4130066	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01981.hp1 HG02135.hp1 others(11): Show HG01978.hp2 HG01981.hp1 HG02135.hp1 HG02148.hp2 HG02280.hp2 HG02895.hp1 HG02897.hp1 HG03942.hp2 NA18612.hp1 NA18970.hp2 NA18974.hp1 NA18984.hp1 NA19007.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0196 a0001c0001t0001g0289 a0001c0001t0001g0297 others(11): Show a0001c0001t0001g0196 a0001c0001t0001g0289 a0001c0001t0001g0297 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0335 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0040 a0001c0003t0002g0051 a0001c0003t0002g0056 a0001c0003t0002g0062 a0001c0003t0002g0066	14	368	0.0380	24	c.176 others(41): Show c.1769+937_1769+938insATATATATATATATATATATATAT		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(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG01891.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0166 a0001c0001t0001g0168	2	386	0.0052	24	c.685 others(41): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTT		RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8						chr8	TogoVar
RRP12_chr10_97351701_97406340	97404752	A A	AATAGATA others(17): Show AATAGATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01361.hp1 others(19): Show HG01069.hp2 HG01071.hp1 HG01361.hp1 HG01884.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03209.hp2 HG03453.hp2 HG03927.hp1 HG04204.hp1 HG04204.hp2 NA18941.hp1 NA19043.hp2 NA19082.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0004 a0001c0005 a0001c0006 others(7): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0017 a0001c0018 a0003c0002 a0007c0016	a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 others(7): Show a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0014t0001 a0001c0017t0001 a0001c0018t0001 a0003c0002t0001 a0007c0016t0001	a0001c0004t0001g0197 a0001c0005t0001g0160 a0001c0006t0001g0219 others(18): Show a0001c0004t0001g0197 a0001c0005t0001g0160 a0001c0006t0001g0219 a0001c0006t0001g0229 a0001c0006t0001g0239 a0001c0007t0001g0220 a0001c0007t0001g0222 a0001c0007t0001g0247 a0001c0007t0001g0248 a0001c0008t0001g0213 a0001c0008t0001g0215 a0001c0014t0001g0202 a0001c0017t0001g0014 a0001c0018t0001g0207 a0001c0018t0001g0208 a0003c0002t0001g0224 a0003c0002t0001g0270 a0003c0002t0001g0279 a0003c0002t0001g0314 a0003c0002t0001g0328 a0007c0016t0001g0241	22	400	0.0550	24	c.-35 others(35): Show c.-3545_-3522dupCTATCTATCTATCTATCTATCTAT		RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding					3413		chr10	TogoVar
RRP7A_chr22_42503344_42524796	42509850	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG01891.hp1 others(18): Show HG00609.hp1 HG00621.hp1 HG01891.hp1 HG02080.hp1 HG02132.hp1 HG02818.hp2 HG03710.hp1 NA18944.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp1 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19078.hp1 NA19086.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0034 a0002c0001t0006 a0002c0001t0042 others(4): Show a0001c0006t0034 a0002c0001t0006 a0002c0001t0042 a0002c0001t0059 a0002c0001t0061 a0002c0001t0063 a0002c0001t0079	a0001c0006t0034g0044 a0002c0001t0006g0008 a0002c0001t0006g0011 others(8): Show a0001c0006t0034g0044 a0002c0001t0006g0008 a0002c0001t0006g0011 a0002c0001t0006g0034 a0002c0001t0006g0067 a0002c0001t0006g0076 a0002c0001t0042g0030 a0002c0001t0059g0081 a0002c0001t0061g0083 a0002c0001t0063g0065 a0002c0001t0079g0098	21	388	0.0541	24	c.30 others(35): Show c.3059_*3060insACACACACACACACACACACACAC		RRP7A	ENSG00000189306.11	transcript	ENST00000323013.7	protein_coding	7/7				3059		chr22	TogoVar
RSAD1_chr17_50473860_50490974	50476060	T T	TGCCTGCC others(17): Show TGCCTGCCCCCTTACCTCCCAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG03239.hp1 HG01361.hp1 HG03239.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0005	2	382	0.0052	24	c.-28 others(35): Show c.-2825_-2824insGCCTGCCCCCTTACCTCCCAGCGC		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2799		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476060	T T	TGCCTGCC others(17): Show TGCCTGCCCCCTTACCTCGCAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	382	0.0052	24	c.-28 others(35): Show c.-2825_-2824insGCCTGCCCCCTTACCTCGCAGCGC		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2799		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476198	C C	CCAGCGCG others(17): Show CCAGCGCGCCTGCCCCCTTACCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0003 a0001c0003t0002g0003	1	382	0.0026	24	c.-26 others(35): Show c.-2687_-2686insCAGCGCGCCTGCCCCCTTACCTCG		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2661		chr17	TogoVar

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