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
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG04184.hp2 NA18987.hp2 HG01074.hp1 HG04184.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0134 a0001c0001t0001g0313 a0001c0004t0001g0241 a0001c0001t0001g0134 a0001c0001t0001g0313 a0001c0004t0001g0241	3	12	0.2500	21	c.-42 others(32): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding					4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297877	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0049	1	326	0.0031	21	c.218 others(38): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTCTTTCTTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0180 a0003c0003t0001g0180	1	319	0.0031	21	c.218 others(38): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTCT		RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38286059	C C	CTCCCCTT others(14): Show CTCCCCTTCTCCTTCCTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG01109.hp1 HG01256.hp1 others(33): Show HG00280.hp1 HG01109.hp1 HG01256.hp1 HG01358.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02523.hp1 HG02630.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp1 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp1 NA18906.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp1 NA18975.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19043.hp1 NA19056.hp1 NA19072.hp1 NA20300.hp2 NA20905.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0003c0021 a0010c0012 a0003c0003 a0003c0021 a0010c0012	a0003c0003t0003 a0003c0003t0011 a0003c0021t0003 others(1): Show a0003c0003t0003 a0003c0003t0011 a0003c0021t0003 a0010c0012t0003	a0003c0003t0003g0004 a0003c0003t0003g0022 a0003c0003t0003g0025 others(23): Show a0003c0003t0003g0004 a0003c0003t0003g0022 a0003c0003t0003g0025 a0003c0003t0003g0029 a0003c0003t0003g0061 a0003c0003t0003g0062 a0003c0003t0003g0065 a0003c0003t0003g0067 a0003c0003t0003g0085 a0003c0003t0003g0086 a0003c0003t0003g0087 a0003c0003t0003g0091 a0003c0003t0003g0096 a0003c0003t0003g0099 a0003c0003t0003g0102 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0122 a0003c0003t0003g0123 a0003c0003t0003g0166 a0003c0003t0011g0063 a0003c0021t0003g0104 a0010c0012t0003g0094 a0010c0012t0003g0097 a0010c0012t0003g0098	36	298	0.1208	21	c.291 others(30): Show c.2919_2939dupAGGGGAGGAAGGAGAAGGGGA	p.Glu others(34): Show p.Glu980_Gly981insGlyGluGluGlyGluGlyGlu	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	3081/4733	2939/3459	980/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286158	C C	CTCCCCTT others(14): Show CTCCCCTTCTCCATCCTCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(103): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0002 a0018 a0021 a0002 a0018 a0021	a0002c0002 a0002c0004 a0018c0026 others(1): Show a0002c0002 a0002c0004 a0018c0026 a0021c0024	a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 others(2): Show a0002c0002t0001 a0002c0002t0007 a0002c0004t0001 a0018c0026t0001 a0021c0024t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 others(62): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0047 a0002c0002t0001g0059 a0002c0002t0001g0066 a0002c0002t0001g0081 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0118 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0145 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0171 a0002c0002t0007g0153 a0002c0002t0007g0168 a0002c0004t0001g0006 a0002c0004t0001g0020 a0002c0004t0001g0021 a0002c0004t0001g0032 a0002c0004t0001g0033 a0002c0004t0001g0035 a0002c0004t0001g0112 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0144 a0002c0004t0001g0147 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0001g0151 a0002c0004t0001g0155 a0002c0004t0001g0156 a0002c0004t0001g0158 a0002c0004t0001g0170 a0018c0026t0001g0148 a0021c0024t0001g0146	106	300	0.3533	21	c.282 others(30): Show c.2820_2840dupAGGGGAGGATGGAGAAGGGGA	p.Glu others(34): Show p.Glu947_Gly948insGlyGluAspGlyGluGlyGlu	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2982/4733	2840/3459	947/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38286437	T T	TCCTTCCT others(14): Show TCCTTCCTCCTCTTCCCCCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19058.hp1 NA19058.hp1	a0023 a0023	a0023c0023 a0023c0023	a0023c0023t0002 a0023c0023t0002	a0023c0023t0002g0082 a0023c0023t0002g0082	1	262	0.0038	21	c.254 others(30): Show c.2541_2561dupGGAGGGGGAAGAGGAGGAAGG	p.Gly others(34): Show p.Gly854_Glu855insGluGlyGluGluGluGluGly	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding	15/15	2703/4733	2561/3459	854/1152			chrX	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	63	0.0159	21	c.-51 others(32): Show c.-5138_-5137insTATATATATATATATATATAT		RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding					4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	321575	A A	ACAGAGAT others(14): Show ACAGAGATGGCCCAGGTGGCAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19004.hp2 NA19074.hp2 HG02818.hp2 NA19004.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0015 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0001t0010g0015 a0001c0001t0012g0005 a0001c0001t0012g0006	3	132	0.0227	21	c.78- others(34): Show c.78-161_78-160insCTGCCACCTGGGCCATCTCTG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	321582	T T	TGGCCCAG others(14): Show TGGCCCAGGTGGCAACAGAGAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0067 a0001c0001t0031g0067	1	110	0.0091	21	c.78- others(34): Show c.78-188_78-168dupGTCTCTGTTGCCACCTGGGCC		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9						chr17	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02080.hp2 HG03834.hp1 others(5): Show HG00642.hp1 HG02080.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18990.hp1 NA19068.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0014 a0001c0001 a0001c0003 a0001c0014	a0001c0001t0003 a0001c0001t0036 a0001c0001t0038 others(5): Show a0001c0001t0003 a0001c0001t0036 a0001c0001t0038 a0001c0001t0080 a0001c0001t0161 a0001c0001t0170 a0001c0003t0160 a0001c0014t0113	a0001c0001t0003g0107 a0001c0001t0036g0132 a0001c0001t0038g0123 others(5): Show a0001c0001t0003g0107 a0001c0001t0036g0132 a0001c0001t0038g0123 a0001c0001t0080g0059 a0001c0001t0161g0151 a0001c0001t0170g0152 a0001c0003t0160g0145 a0001c0014t0113g0166	8	15	0.5333	21	c.83+ others(36): Show c.83+4672_83+4692dupAAAAAAAAAAAAAAAAAAAAA		RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATATAT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	155	0.0065	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATATTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0007 a0002c0002t0004g0007	1	155	0.0065	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATATTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	155	0.0065	21	c.-17 others(32): Show c.-1706_-1705insTATATATATATATATTTTTTT		RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding					1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp1 others(38): Show HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00642.hp1 HG00738.hp2 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02572.hp1 HG02698.hp1 HG02738.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 NA18941.hp2 NA18946.hp1 NA18960.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA19010.hp1 NA19010.hp2 NA19078.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0030 a0001c0001t0006g0043 a0001c0001t0009g0009 a0004c0004t0001g0046	41	58	0.7069	21	c.20 others(32): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTT		RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding					1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89568955	G G	GCACACGC others(14): Show GCACACGCGTGTAGTCCTAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	21	c.59 others(32): Show c.5913_*5914insCACACGCGTGTAGTCCTAGCT		RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding					4414		chr16	TogoVar
RPL14_chr3_40452339_40473587	40462029	A A	ACTGCTGC others(14): Show ACTGCTGCTGCTGCTGCTGCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 NA18946.hp1 HG00621.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0090 a0001c0001t0005 a0001c0001t0090	a0001c0001t0005g0006 a0001c0001t0090g0002 a0001c0001t0005g0006 a0001c0001t0090g0002	2	32	0.0625	21	c.457 others(28): Show c.457_477dupGCTGCTGCTGCTGCTGCTGCT	p.Ala others(13): Show p.Ala153_Ala159dup	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding	6/6	611/7136	478/648	160/215		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPL22_chr1_6180020_6204595	6203210	T T	TCTTCCAA others(14): Show TCTTCCAAGCAGTTAATGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	370	0.0027	21	c.-36 others(32): Show c.-3658_-3638dupGCTGCATTAACTGCTTGGAAG		RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding					3616		chr1	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03927.hp2 HG02922.hp1 HG02976.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0006 a0001c0001t0007g0007 a0001c0001t0006g0006 a0001c0001t0007g0007	3	57	0.0526	21	c.50 others(32): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAA		RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding					2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp2 HG04228.hp2 others(3): Show HG00544.hp1 HG01175.hp2 HG04228.hp2 NA18946.hp1 NA19010.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0155 a0001c0001t0003g0065	6	13	0.4615	21	c.192 others(38): Show c.192+1021_192+1041dupTTTTTTTTTTTTTTTTTTTTT		RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5						chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	62	0.0161	21	c.26 others(32): Show c.2606_*2626dupTTTTTTTTTTTTTTTTTTTTT		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					2578		chr17	TogoVar
RPL34_chr4_108615576_108630370	108618564	T T	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	214	0.0047	21	c.-20 others(32): Show c.-2046_-2045insTTATTATTATTATTATTATTA		RPL34	ENSG00000109475.17	transcript	ENST00000394667.8	protein_coding					2011		chr4	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	164	0.0061	21	c.-93 others(38): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTTTTTTTTT		RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2						chr3	TogoVar
RPL39L_chr3_187115948_187144496	187134496	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 NA18951.hp2 others(5): Show HG00544.hp2 HG02083.hp2 NA18951.hp2 NA18955.hp1 NA18969.hp2 NA18972.hp1 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0056 a0001c0001t0005g0057 others(1): Show a0001c0001t0005g0013 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058	8	396	0.0202	21	c.-93 others(38): Show c.-93+4716_-93+4717insCTTTTTTTTTTTTTTTTTTTT		RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2						chr3	TogoVar
RPL7A_chr9_133343218_133356426	133356366	G G	GCCCCGCA others(14): Show GCCCCGCACCCCGCACCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02895.hp2 others(6): Show HG00735.hp1 HG01884.hp2 HG02895.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG04199.hp1 HG04199.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0009	9	256	0.0352	21	c.50 others(32): Show c.5000_*5001insCCCCGCACCCCGCACCCCGCA		RPL7A	ENSG00000148303.17	transcript	ENST00000323345.11	protein_coding					4941		chr9	TogoVar
RPP25_chr15_74949418_74961772	74950068	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	102	0.0098	21	c.59 others(32): Show c.5915_*5916insAAAAAAAAAAAAAAAAAAAAA		RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding					4349		chr15	TogoVar
RPRD2_chr1_150359147_150481566	150422340	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02056.hp1 HG03041.hp2 others(4): Show HG01243.hp1 HG02056.hp1 HG03041.hp2 NA18939.hp1 NA18953.hp2 NA18984.hp2 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0020 a0001c0001t0040 a0003c0005t0005	a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0303 others(4): Show a0001c0001t0002g0249 a0001c0001t0002g0259 a0001c0001t0002g0303 a0001c0001t0004g0264 a0001c0001t0020g0292 a0001c0001t0040g0289 a0003c0005t0005g0214	7	200	0.0350	21	c.335 others(38): Show c.335+4624_335+4644dupTAATAATAATAATAATAATAA		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(14): Show TAATAATAATAATAATAATAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02683.hp1 HG03490.hp1 others(4): Show HG02129.hp1 HG02683.hp1 HG03490.hp1 HG03492.hp2 HG03834.hp2 HG04115.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0258 a0001c0001t0002g0279 a0001c0001t0004g0002 others(3): Show a0001c0001t0002g0258 a0001c0001t0002g0279 a0001c0001t0004g0002 a0001c0001t0004g0256 a0001c0001t0004g0262 a0001c0001t0004g0270	7	301	0.0233	21	c.335 others(38): Show c.335+4644_335+4645insTAATAATAATAATAATAAAAA		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(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01346.hp1 HG01978.hp1 others(8): Show HG00558.hp1 HG01346.hp1 HG01978.hp1 HG02080.hp2 HG02165.hp1 HG02257.hp1 HG02683.hp2 HG03239.hp2 HG03831.hp2 NA18906.hp2 NA18969.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0050 a0002c0003t0051	a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0067 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0102 a0001c0001t0001g0108 a0001c0001t0001g0305 a0001c0001t0006g0068 a0001c0001t0014g0073 a0001c0001t0050g0095 a0002c0003t0051g0058	11	42	0.2619	21	c.336 others(38): Show c.336-9446_336-9426dupTTTTTTTTTTTTTTTTTTTTT		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(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG03831.hp1 NA18944.hp1 others(4): Show HG01346.hp1 HG03831.hp1 NA18944.hp1 NA18987.hp2 NA19002.hp1 NA19076.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	57	0.1228	21	c.-16 others(32): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTTTTT		RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding					1414		chr17	TogoVar
RPRM_chr2_153472338_153483762	153482133	C C	CCAAATTC others(14): Show CCAAATTCTTTCTCAGAACCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	21	c.-35 others(32): Show c.-3569_-3568insTAGGTTCTGAGAAAGAATTTG		RPRM	ENSG00000177519.4	transcript	ENST00000325926.4	protein_coding					3372		chr2	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01243.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0102 a0001c0001t0002g0073 a0001c0001t0002g0102	2	5	0.4000	21	c.322 others(36): Show c.322+508_322+528dupTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5						chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	4	0.2500	21	c.-10 others(32): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding					1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(39): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01952.hp1 HG01952.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02572.hp1 HG02698.hp2 HG02738.hp1 HG02965.hp1 HG03225.hp1 HG03486.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 NA18946.hp2 NA18960.hp1 NA18961.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA19010.hp1 NA19010.hp2 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034	42	60	0.7000	21	c.-26 others(32): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS14_chr5_150437635_150454739	150439093	A A	AGGAAGGA others(14): Show AGGAAGGAAGGAAGGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	411	0.0024	21	c.51 others(32): Show c.5192_*5193insCTTCCTTCCTTCCTTCCTTCC		RPS14	ENSG00000164587.13	transcript	ENST00000407193.7	protein_coding					3541		chr5	TogoVar
RPS29_chr14_49578577_49591380	49582012	C C	CCAAAAAA others(14): Show CCAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02809.hp1 HG00733.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	135	0.0148	21	c.16 others(32): Show c.1654_*1655insTTTTTTTTTTTTTTTTTTTTG		RPS29	ENSG00000213741.11	transcript	ENST00000245458.11	protein_coding					1564		chr14	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02293.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG02293.hp2 HG03225.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0035 a0001c0002 a0001c0009 a0001c0035	a0001c0002t0009 a0001c0009t0001 a0001c0035t0024 a0001c0002t0009 a0001c0009t0001 a0001c0035t0024	a0001c0002t0009g0188 a0001c0009t0001g0112 a0001c0009t0001g0113 others(2): Show a0001c0002t0009g0188 a0001c0009t0001g0112 a0001c0009t0001g0113 a0001c0009t0001g0115 a0001c0035t0024g0006	5	220	0.0227	21	c.907 others(38): Show c.907+8355_907+8356insTATATATATATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140750	A A	AACCATAC others(14): Show AACCATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 NA19003.hp1 HG01168.hp2 HG01169.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0039 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0039 a0002c0002t0003g0049 a0002c0002t0003g0050	3	269	0.0112	21	c.501 others(38): Show c.501+4727_501+4728insATATATATATATATGTATGGT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp2 HG03195.hp1 HG02630.hp1 HG02886.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0098 a0001c0001t0001g0318 a0001c0001t0001g0322	3	99	0.0303	21	c.472 others(36): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213137799	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	153	0.0065	21	c.835 others(38): Show c.835+7911_835+7912insATATATATATATATATATATT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	6/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS9_chr19_54195858_54212647	54197713	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG03654.hp1 HG02602.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0066 a0001c0002t0001g0067	2	217	0.0092	21	c.-32 others(32): Show c.-3201_-3200insTTTTTTTTTTTTTTTTTTTTT		RPS9	ENSG00000170889.14	transcript	ENST00000302907.9	protein_coding					3144		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80601555	C C	CTTCTTTT others(14): Show CTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0005 a0001c0067	a0001c0005t0026 a0001c0067t0068 a0001c0005t0026 a0001c0067t0068	a0001c0005t0026g0109 a0001c0067t0068g0110 a0001c0005t0026g0109 a0001c0067t0068g0110	2	96	0.0208	21	c.163 others(40): Show c.163-24134_163-24133insCTTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80658821	C C	CTATTCTG others(14): Show CTATTCTGTGATTTCCATTCGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	194	0.0052	21	c.348 others(40): Show c.348+15013_348+15033dupATTCTGTGATTTCCATTCGAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665527	G G	TTCCTTTC others(14): Show TTCCTTTCCTTTCCTTTTCATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG00735.hp2 others(10): Show HG00544.hp1 HG00621.hp1 HG00735.hp2 HG01081.hp1 HG01255.hp1 HG01517.hp2 HG02015.hp1 HG02165.hp1 HG02602.hp2 HG03540.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(10): Show a0001c0002 a0001c0003 a0001c0004 a0001c0016 a0001c0018 a0001c0023 a0001c0036 a0001c0037 a0001c0074 a0001c0084 a0001c0090 a0001c0093 a0001c0096	a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 others(10): Show a0001c0002t0007 a0001c0003t0001 a0001c0004t0001 a0001c0016t0029 a0001c0018t0017 a0001c0023t0007 a0001c0036t0004 a0001c0037t0053 a0001c0074t0032 a0001c0084t0059 a0001c0090t0001 a0001c0093t0070 a0001c0096t0072	a0001c0002t0007g0136 a0001c0003t0001g0156 a0001c0004t0001g0152 others(10): Show a0001c0002t0007g0136 a0001c0003t0001g0156 a0001c0004t0001g0152 a0001c0016t0029g0184 a0001c0018t0017g0141 a0001c0023t0007g0132 a0001c0036t0004g0167 a0001c0037t0053g0139 a0001c0074t0032g0060 a0001c0084t0059g0165 a0001c0090t0001g0161 a0001c0093t0070g0157 a0001c0096t0072g0171	13	162	0.0802	21	c.348 others(40): Show c.348+21716_348+21717insTTCCTTTCCTTTCCTTTTCAT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	38	0.0263	21	c.349 others(40): Show c.349-22213_349-22212insATATATATATATTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685628	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0003 a0001c0085t0003	a0001c0085t0003g0162 a0001c0085t0003g0162	1	182	0.0055	21	c.349 others(40): Show c.349-22213_349-22212insATATATATATATATATATATA		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80711744	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01261.hp1 HG02886.hp1 others(7): Show HG00741.hp1 HG01261.hp1 HG02886.hp1 HG02897.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03540.hp2 NA19030.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0001c0007 a0001c0012 others(6): Show a0001c0005 a0001c0007 a0001c0012 a0001c0025 a0001c0064 a0001c0079 a0001c0088 a0001c0089 a0005c0092	a0001c0005t0026 a0001c0007t0030 a0001c0012t0018 others(6): Show a0001c0005t0026 a0001c0007t0030 a0001c0012t0018 a0001c0025t0052 a0001c0064t0005 a0001c0079t0050 a0001c0088t0006 a0001c0089t0005 a0005c0092t0012	a0001c0005t0026g0109 a0001c0007t0030g0018 a0001c0007t0030g0020 others(7): Show a0001c0005t0026g0109 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0012t0018g0185 a0001c0025t0052g0181 a0001c0064t0005g0074 a0001c0079t0050g0100 a0001c0088t0006g0142 a0001c0089t0005g0159 a0005c0092t0012g0163	10	62	0.1613	21	c.507 others(38): Show c.507+3761_507+3762insTTTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840894	A A	ACTCACCA others(14): Show ACTCACCACACGGCAGCTCACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp2 others(55): Show HG00099.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18980.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19057.hp2 NA19068.hp1 NA19088.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(39): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0026 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0037 a0001c0039 a0001c0040 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0054 a0001c0055 a0001c0064 a0001c0065 a0001c0067 a0001c0068 a0001c0072 a0001c0075 a0001c0079 a0001c0080 a0001c0083 a0001c0084 a0001c0085 a0001c0093	a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 others(51): Show a0001c0001t0015 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0004t0033 a0001c0006t0013 a0001c0006t0022 a0001c0008t0021 a0001c0008t0054 a0001c0009t0005 a0001c0009t0012 a0001c0009t0028 a0001c0011t0024 a0001c0015t0007 a0001c0015t0046 a0001c0017t0008 a0001c0018t0009 a0001c0018t0016 a0001c0019t0003 a0001c0019t0008 a0001c0019t0042 a0001c0020t0064 a0001c0022t0001 a0001c0026t0010 a0001c0026t0043 a0001c0027t0016 a0001c0027t0097 a0001c0028t0019 a0001c0029t0025 a0001c0030t0003 a0001c0037t0004 a0001c0039t0061 a0001c0040t0066 a0001c0044t0045 a0001c0046t0024 a0001c0047t0012 a0001c0048t0073 a0001c0049t0011 a0001c0050t0006 a0001c0051t0060 a0001c0054t0034 a0001c0055t0049 a0001c0064t0005 a0001c0065t0006 a0001c0067t0068 a0001c0068t0025 a0001c0072t0005 a0001c0075t0012 a0001c0079t0050 a0001c0080t0011 a0001c0083t0028 a0001c0084t0059 a0001c0085t0003 a0001c0093t0070	a0001c0001t0015g0088 a0001c0002t0002g0027 a0001c0002t0002g0028 others(55): Show a0001c0001t0015g0088 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0007g0136 a0001c0002t0010g0063 a0001c0004t0033g0023 a0001c0006t0013g0067 a0001c0006t0022g0093 a0001c0008t0021g0094 a0001c0008t0054g0169 a0001c0009t0005g0143 a0001c0009t0012g0106 a0001c0009t0028g0113 a0001c0011t0024g0148 a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0046g0082 a0001c0017t0008g0031 a0001c0017t0008g0066 a0001c0018t0009g0065 a0001c0018t0016g0120 a0001c0019t0003g0134 a0001c0019t0008g0037 a0001c0019t0042g0092 a0001c0020t0064g0193 a0001c0022t0001g0130 a0001c0026t0010g0044 a0001c0026t0043g0099 a0001c0027t0016g0189 a0001c0027t0097g0059 a0001c0028t0019g0024 a0001c0029t0025g0153 a0001c0030t0003g0116 a0001c0030t0003g0117 a0001c0037t0004g0145 a0001c0039t0061g0177 a0001c0040t0066g0180 a0001c0044t0045g0083 a0001c0046t0024g0164 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0049t0011g0081 a0001c0050t0006g0147 a0001c0051t0060g0115 a0001c0054t0034g0054 a0001c0055t0049g0086 a0001c0064t0005g0074 a0001c0065t0006g0104 a0001c0067t0068g0110 a0001c0068t0025g0107 a0001c0072t0005g0076 a0001c0075t0012g0127 a0001c0079t0050g0100 a0001c0080t0011g0080 a0001c0083t0028g0158 a0001c0084t0059g0165 a0001c0085t0003g0162 a0001c0093t0070g0157	58	193	0.3005	21	c.121 others(40): Show c.1212+2922_1212+2942dupACCACACGGCAGCTCACTCTC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80840938	T T	TCACCACA others(14): Show TCACCACACGGCAGCTCACTCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20805.hp1 HG01361.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0004t0014g0084 a0001c0004t0014g0101	2	194	0.0103	21	c.121 others(40): Show c.1212+2942_1212+2943insACCACACGGCAGCTCACTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841153	G G	GCACGGCA others(14): Show GCACGGCAGCTCACACTCACCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp2 HG02630.hp1 others(4): Show HG01074.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp2 HG02809.hp2 HG03139.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0011 others(2): Show a0001c0003 a0001c0007 a0001c0011 a0001c0038 a0001c0045	a0001c0003t0001 a0001c0007t0084 a0001c0011t0047 others(3): Show a0001c0003t0001 a0001c0007t0084 a0001c0011t0047 a0001c0011t0062 a0001c0038t0006 a0001c0045t0091	a0001c0003t0001g0156 a0001c0003t0001g0190 a0001c0007t0084g0007 others(4): Show a0001c0003t0001g0156 a0001c0003t0001g0190 a0001c0007t0084g0007 a0001c0011t0047g0079 a0001c0011t0062g0114 a0001c0038t0006g0178 a0001c0045t0091g0036	7	187	0.0374	21	c.121 others(40): Show c.1212+3169_1212+3170insACTCACCACACGGCAGCTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar

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