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
RPL5_chr1_92827040_92846924	92846871	A A	ATATACAT others(11): Show ATATACATATATATACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	331	0.0030	18	c.50 others(29): Show c.5006_*5007insTATACATATATATACGTG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4948		chr1	TogoVar
RPP40_chr6_4989717_5009037	5004046	A A	ACGCCCCG others(11): Show ACGCCCCGCCCCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	360	0.0028	18	c.-45 others(25): Show c.-45_-44insGGAGGAAGGGGCGGGGCG	RPP40	ENSG00000124787.14	transcript	ENST00000380051.7	protein_coding		10		chr6	TogoVar
RPRD1A_chr18_35984824_36072559	36008568	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0305 a0001c0002t0003g0305	1	318	0.0031	18	c.790 others(37): Show c.790-15269_790-15268insATATATATATATATATAT	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp2 NA18947.hp2 others(7): Show HG02056.hp2 HG02080.hp2 NA18947.hp2 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA19002.hp2 NA19060.hp1 NA19078.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011	a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0036 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0049 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0007g0058 a0001c0001t0011g0032	10	318	0.0315	18	c.790 others(37): Show c.790-15272_790-15271insTATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01975.hp2 HG02273.hp2 others(1): Show HG01934.hp1 HG01975.hp2 HG02273.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 others(1): Show a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0044	4	318	0.0126	18	c.790 others(37): Show c.790-15276_790-15275insTATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03471.hp2 HG02886.hp1 HG02922.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008	3	318	0.0094	18	c.790 others(37): Show c.790-15278_790-15277insTATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1B_chr20_38028746_38097364	38030528	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG03041.hp2 others(1): Show HG02486.hp2 HG02572.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(1): Show a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268	4	384	0.0104	18	c.-34 others(29): Show c.-3420_-3419insACACACACACACACACAC	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding		3217		chr20	TogoVar
RPRD1B_chr20_38028746_38097364	38096407	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0295 a0001c0002t0002g0295	1	384	0.0026	18	c.65 others(29): Show c.6532_*6533insATATATATATATATATAT	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding		4044		chr20	TogoVar
RPRD2_chr1_150359147_150481566	150395365	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19004.hp2 NA19091.hp2 HG02145.hp1 NA19004.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0006 a0001c0002 a0001c0004 a0004c0006	a0001c0002t0019 a0001c0004t0046 a0004c0006t0048 a0001c0002t0019 a0001c0004t0046 a0004c0006t0048	a0001c0002t0019g0039 a0001c0004t0046g0227 a0004c0006t0048g0272 a0001c0002t0019g0039 a0001c0004t0046g0227 a0004c0006t0048g0272	3	318	0.0094	18	c.206 others(37): Show c.206-22213_206-22196dupGTGTGTGTGTGTGTGTGT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150422340	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00738.hp1 HG00738.hp2 others(18): Show HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01515.hp2 HG01975.hp2 HG02015.hp2 HG02559.hp1 HG03239.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp2 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18994.hp2 NA19010.hp1 NA19063.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0005 a0004c0006 a0001c0001 a0003c0005 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0041 a0003c0005t0005 a0003c0005t0013 a0003c0005t0022 a0004c0006t0002 a0004c0006t0043	a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0284 others(18): Show a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0016g0290 a0001c0001t0041g0236 a0003c0005t0005g0207 a0003c0005t0005g0212 a0003c0005t0013g0209 a0003c0005t0013g0211 a0003c0005t0022g0210 a0004c0006t0002g0273 a0004c0006t0002g0281 a0004c0006t0002g0291 a0004c0006t0043g0278	21	318	0.0660	18	c.335 others(35): Show c.335+4627_335+4644dupTAATAATAATAATAATAA	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(11): Show TAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04199.hp2 HG04184.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0004 a0001c0013t0004 a0001c0001t0004 a0001c0013t0004	a0001c0001t0004g0267 a0001c0013t0004g0266 a0001c0001t0004g0267 a0001c0013t0004g0266	2	318	0.0063	18	c.335 others(35): Show c.335+4644_335+4645insTAATAATAATAATAAAAA	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19063.hp2 NA18939.hp2 NA19063.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0008 a0002c0003 a0006c0008	a0002c0003t0014 a0006c0008t0011 a0002c0003t0014 a0006c0008t0011	a0002c0003t0014g0096 a0006c0008t0011g0059 a0002c0003t0014g0096 a0006c0008t0011g0059	2	318	0.0063	18	c.336 others(35): Show c.336-9443_336-9426dupTTTTTTTTTTTTTTTTTT	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(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(66): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG01069.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02523.hp1 HG02735.hp2 HG03491.hp2 HG03669.hp1 HG03710.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0004c0006t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0004c0006t0001g0000	69	452	0.1527	18	c.-16 others(29): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTT	RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding		1414		chr17	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03516.hp1 NA18970.hp2 others(1): Show HG01433.hp1 HG03516.hp1 NA18970.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0103 others(1): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0103 a0001c0001t0002g0104	4	390	0.0103	18	c.322 others(33): Show c.322+511_322+528dupTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5			chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	390	0.0026	18	c.-10 others(29): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01167.hp1 others(13): Show HG00738.hp1 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01517.hp2 HG02451.hp1 NA18945.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA18992.hp1 NA18998.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0022	16	352	0.0455	18	c.-26 others(29): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS11_chr19_49491434_49504708	49493848	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01515.hp1 HG03492.hp1 HG01074.hp2 HG01515.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	352	0.0085	18	c.-26 others(29): Show c.-2609_-2608insTTTTTTTTTTTTTTTTTG	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2585		chr19	TogoVar
RPS17_chr15_82531750_82545457	82535087	G G	GTATATAT others(11): Show GTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG02559.hp2 HG02683.hp1 others(1): Show HG00099.hp1 HG02559.hp2 HG02683.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	4	455	0.0088	18	c.17 others(29): Show c.1713_*1714insTATATATATATATATATA	RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding		1662		chr15	TogoVar
RPS20_chr8_56068054_56079506	56068807	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	331	0.0030	18	c.42 others(29): Show c.4265_*4282dupAAAAAAAAAAAAAAAAAA	RPS20	ENSG00000008988.11	transcript	ENST00000009589.8	protein_coding		4246		chr8	TogoVar
RPS24_chr10_78028863_78045697	78030446	C C	CTATATAT others(11): Show CTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01978.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG01978.hp1 HG03017.hp1 NA18963.hp2 NA18979.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008	7	430	0.0163	18	c.-34 others(29): Show c.-3456_-3455insTATATATATATATATATA	RPS24	ENSG00000138326.21	transcript	ENST00000372360.9	protein_coding		3416		chr10	TogoVar
RPS29_chr14_49578577_49591380	49582012	C C	CCAAAAAA others(11): Show CCAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02280.hp2 HG03195.hp2 others(2): Show HG01358.hp2 HG02280.hp2 HG03195.hp2 HG03471.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0004 a0001c0001t0001g0029	5	335	0.0149	18	c.16 others(29): Show c.1654_*1655insTTTTTTTTTTTTTTTTTG	RPS29	ENSG00000213741.11	transcript	ENST00000245458.11	protein_coding		1564		chr14	TogoVar
RPS6KA1_chr1_26524761_26580025	26529622	G G	GGGCCGGC others(11): Show GGGCCGGCCCTCGGGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0016 a0001c0013t0016	a0001c0013t0016g0046 a0001c0013t0016g0046	1	330	0.0030	18	c.-29 others(27): Show c.-299_-298insGGCCGGCCCTCGGGGCGC	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding		138		chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166468856	T T	TCCATCTC others(11): Show TCCATCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0146 a0001c0025t0001g0146	1	244	0.0041	18	c.972 others(33): Show c.972+984_972+985insTTTTTTTTTTTGAGATGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	11/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18982.hp1 HG02698.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0001 a0001c0002t0007 a0001c0004t0001	a0001c0002t0007g0082 a0001c0004t0001g0242 a0001c0002t0007g0082 a0001c0004t0001g0242	2	244	0.0082	18	c.907 others(35): Show c.907+8336_907+8353dupTATATATATATATATATA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166517450	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0046 a0001c0028t0001g0046	1	244	0.0041	18	c.299 others(35): Show c.299-7094_299-7093insAAAAAAAAAAAAAAAAAA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166550994	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp2 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0047 a0001c0002t0002 a0001c0001t0047 a0001c0002t0002	a0001c0001t0047g0231 a0001c0002t0002g0174 a0001c0001t0047g0231 a0001c0002t0002g0174	2	244	0.0082	18	c.100 others(37): Show c.100-12211_100-12210insTTTTTTTTTTTTTTTTTT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20			chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	90885552	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02559.hp1 HG01346.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0150 a0001c0001t0001 a0001c0001t0150	a0001c0001t0001g0256 a0001c0001t0150g0055 a0001c0001t0001g0256 a0001c0001t0150g0055	2	306	0.0065	18	c.183 others(37): Show c.1836+4917_1836+4934dupTTTTTTTTTTTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	14/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91035847	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0294 a0001c0001t0005g0294	1	306	0.0033	18	c.103 others(37): Show c.103+24467_103+24484dupTTTTTTTTTTTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91040312	G G	GCCGGAGA others(11): Show GCCGGAGAATCGCTTGAAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0174 a0001c0001t0174	a0001c0001t0174g0125 a0001c0001t0174g0125	1	306	0.0033	18	c.103 others(37): Show c.103+20002_103+20019dupGTTCAAGCGATTCTCCGG	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA5_chr14_90842861_91065641	91062558	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0232 a0001c0001t0008g0232	1	306	0.0033	18	c.-21 others(29): Show c.-2125_-2124insATATATTTTTTTTTTTTT	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding		1918		chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84062952	T T	TAGTAGTA others(11): Show TAGTAGTAGTAGTAGCAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0162 a0002c0002t0048g0162	1	272	0.0037	18	c.13 others(29): Show c.1324_*1325insGCTGCTACTACTACTACT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	22/22	1324		chrX	TogoVar
RPS6KB2_chr11_67423494_67440401	67424861	C C	CCACACAC others(11): Show CCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02132.hp2 HG02723.hp1 others(5): Show HG00621.hp1 HG02132.hp2 HG02723.hp1 NA18612.hp1 NA18950.hp2 NA18999.hp1 NA19058.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0002c0002t0002g0005 a0002c0002t0002g0017 a0001c0001t0001g0001 a0002c0002t0002g0005 a0002c0002t0002g0017	8	378	0.0212	18	c.-36 others(29): Show c.-3685_-3684insCACACACACACACACACA	RPS6KB2	ENSG00000175634.15	transcript	ENST00000312629.10	protein_coding		3632		chr11	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 NA18988.hp2 others(4): Show HG01069.hp1 HG01071.hp2 NA18988.hp2 NA19058.hp1 NA19079.hp2 NA19087.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0104 others(4): Show a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0217 a0001c0001t0001g0310 a0002c0002t0001g0263	7	330	0.0212	18	c.472 others(33): Show c.472+612_472+629dupAAAAAAAAAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213137777	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	330	0.0030	18	c.835 others(35): Show c.835+7889_835+7890insCTCTCTCTCTCTCTATAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213137777	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	330	0.0061	18	c.835 others(35): Show c.835+7889_835+7890insCTCTCTCTCTCTCTCTAT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp1 HG01433.hp2 others(12): Show HG00544.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02083.hp2 HG03195.hp2 HG03516.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19005.hp1 NA19080.hp1 NA19083.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0009 a0001c0001 a0002c0002 a0007c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0002c0002t0001 a0007c0009t0018	a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0081 others(12): Show a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0294 a0001c0001t0001g0313 a0001c0001t0008g0034 a0001c0001t0008g0056 a0001c0001t0013g0231 a0002c0002t0001g0247 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0265 a0002c0002t0001g0268 a0007c0009t0018g0280	15	330	0.0455	18	c.104 others(39): Show c.1045-24951_1045-24950insTATATATATATATATATA	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(11): Show GATATAGATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	330	0.0030	18	c.104 others(39): Show c.1045-24945_1045-24944insGATATATATATATATATA	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(11): Show TGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	18	c.-37 others(29): Show c.-3744_-3743insGCACACACACACACACAC	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding		3703		chr9	TogoVar
RPSA2_chr19_23758004_23833868	23824580	C C	CTTTCTTT others(11): Show CTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0351 a0001c0001t0025g0351	1	366	0.0027	18	c.-92 others(35): Show c.-92-2487_-92-2486insCTTTTTTTTTTTTTTTTT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPSA_chr3_39401720_39417542	39415809	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	384	0.0026	18	c.34 others(29): Show c.3441_*3442insAAAAAAAAAAAAAAAAAA	RPSA	ENSG00000168028.15	transcript	ENST00000301821.11	protein_coding		3268		chr3	TogoVar
RPTOR_chr17_80539838_80971368	80665533	T T	TCCTTTCC others(11): Show TCCTTTCCTTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG03041.hp2 others(3): Show HG01884.hp2 HG02723.hp2 HG03041.hp2 HG03654.hp2 NA18906.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0027 a0001c0039 others(3): Show a0001c0007 a0001c0027 a0001c0039 a0001c0060 a0001c0070 a0002c0063	a0001c0007t0084 a0001c0027t0096 a0001c0039t0061 others(3): Show a0001c0007t0084 a0001c0027t0096 a0001c0039t0061 a0001c0060t0001 a0001c0070t0020 a0002c0063t0020	a0001c0007t0084g0007 a0001c0027t0096g0060 a0001c0039t0061g0177 others(3): Show a0001c0007t0084g0007 a0001c0027t0096g0060 a0001c0039t0061g0177 a0001c0060t0001g0130 a0001c0070t0020g0003 a0002c0063t0020g0001	6	196	0.0306	18	c.348 others(37): Show c.348+21734_348+21751dupTCCTTTCCCCTTTCCTTT	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(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0009 a0001c0023t0009	a0001c0023t0009g0071 a0001c0023t0009g0071	1	196	0.0051	18	c.349 others(37): Show c.349-22213_349-22212insATATATATATATATTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80728446	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01168.hp2 others(8): Show HG00140.hp2 HG01074.hp1 HG01168.hp2 HG01175.hp2 HG01934.hp2 HG02258.hp1 HG02486.hp1 HG02683.hp1 HG02895.hp1 HG03654.hp2 NA18963.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0011 others(6): Show a0001c0003 a0001c0010 a0001c0011 a0001c0015 a0001c0020 a0001c0024 a0001c0027 a0001c0033 a0001c0049	a0001c0003t0014 a0001c0010t0056 a0001c0010t0071 others(8): Show a0001c0003t0014 a0001c0010t0056 a0001c0010t0071 a0001c0011t0047 a0001c0015t0046 a0001c0020t0048 a0001c0024t0037 a0001c0027t0016 a0001c0027t0096 a0001c0033t0023 a0001c0049t0011	a0001c0003t0014g0102 a0001c0010t0056g0183 a0001c0010t0071g0184 others(8): Show a0001c0003t0014g0102 a0001c0010t0056g0183 a0001c0010t0071g0184 a0001c0011t0047g0076 a0001c0015t0046g0079 a0001c0020t0048g0094 a0001c0024t0037g0092 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0033t0023g0075 a0001c0049t0011g0078	11	196	0.0561	18	c.508 others(35): Show c.508-2105_508-2088dupGTGTGTGTGTGTGTGTGT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743731	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0077 a0001c0057t0077	a0001c0057t0077g0016 a0001c0057t0077g0016	1	196	0.0051	18	c.655 others(37): Show c.655-10265_655-10264insCTGTCCTGGCTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743755	C C	CTACTAGC others(11): Show CTACTAGCACAGCCCTGGT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0008 a0001c0023t0008	a0001c0023t0008g0134 a0001c0023t0008g0134	1	196	0.0051	18	c.655 others(37): Show c.655-10246_655-10245insAGCCCTGGTTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743809	C C	CTACTAGC others(11): Show CTACTAGCACTCTCCTGGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	18	c.655 others(37): Show c.655-10193_655-10192insCTCTCCTGGTTACTAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743836	C C	CTCTCCTG others(11): Show CTCTCCTGGTTACTAGCAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0008 a0001c0043t0008	a0001c0043t0008g0176 a0001c0043t0008g0176	1	196	0.0051	18	c.655 others(37): Show c.655-10174_655-10173insTCTCCTGGTTACTAGCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743849	T T	TAGCACTG others(11): Show TAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02970.hp1 HG02809.hp2 HG02970.hp1	a0001 a0001	a0001c0020 a0001c0045 a0001c0020 a0001c0045	a0001c0020t0093 a0001c0045t0091 a0001c0020t0093 a0001c0045t0091	a0001c0020t0093g0034 a0001c0045t0091g0036 a0001c0020t0093g0034 a0001c0045t0091g0036	2	196	0.0102	18	c.655 others(37): Show c.655-10157_655-10156insCTGTCCTGGTTACGAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743875	C C	CCCTGGCT others(11): Show CCCTGGCTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0186 a0001c0003t0001g0186	1	196	0.0051	18	c.655 others(37): Show c.655-10129_655-10112dupCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(11): Show GAGCCCTGGCTACTAGCAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19011.hp1 HG03209.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0062 a0001c0004 a0002c0062	a0001c0004t0033 a0002c0062t0018 a0001c0004t0033 a0002c0062t0018	a0001c0004t0033g0023 a0002c0062t0018g0191 a0001c0004t0033g0023 a0002c0062t0018g0191	2	196	0.0102	18	c.655 others(37): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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