Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RPF2_chr6_110977038_111033263	111008898	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01070.hp1 others(15): Show HG00438.hp1 HG00621.hp1 HG01070.hp1 HG02135.hp2 HG03579.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18953.hp1 NA18956.hp2 NA18964.hp2 NA18972.hp1 NA18993.hp2 NA19000.hp2 NA19006.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0208 a0001c0001t0001g0248 a0001c0001t0002g0205 others(15): Show a0001c0001t0001g0208 a0001c0001t0001g0248 a0001c0001t0002g0205 a0001c0001t0002g0210 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0006g0126 a0001c0001t0008g0201 a0001c0001t0014g0192 a0001c0001t0017g0224	18	160	0.1125	17	c.493 others(32): Show c.493+763_493+779dupTTTTTTTTTTTTTTTTT	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	82	0.0122	17	c.361 others(36): Show c.3616+1935_3616+1951dupTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02165.hp2 HG03017.hp2 others(4): Show HG02135.hp1 HG02165.hp2 HG03017.hp2 HG03927.hp1 NA18612.hp2 NA18978.hp1 NA19058.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0020 others(1): Show a0001c0001 a0001c0004 a0001c0020 a0004c0007	a0001c0001t0001 a0001c0004t0001 a0001c0020t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0020t0001 a0004c0007t0001	a0001c0001t0001g0262 a0001c0001t0001g0324 a0001c0004t0001g0209 others(4): Show a0001c0001t0001g0262 a0001c0001t0001g0324 a0001c0004t0001g0209 a0001c0020t0001g0227 a0004c0007t0001g0196 a0004c0007t0001g0204 a0004c0007t0001g0314	7	16	0.4375	17	c.-42 others(28): Show c.-4249_-4248insTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297877	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02895.hp2 HG00438.hp1 HG02895.hp2	a0006 a0011 a0006 a0011	a0006c0006 a0011c0011 a0006c0006 a0011c0011	a0006c0006t0001 a0011c0011t0001 a0006c0006t0001 a0011c0011t0001	a0006c0006t0001g0034 a0011c0011t0001g0005 a0006c0006t0001g0034 a0011c0011t0001g0005	2	327	0.0061	17	c.218 others(34): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297880	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	330	0.0030	17	c.218 others(34): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTC	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24			chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA19089.hp1 NA18947.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0011 a0002c0004t0001g0116 a0002c0002t0001g0011 a0002c0004t0001g0116	2	64	0.0313	17	c.-51 others(28): Show c.-5138_-5137insTATATATATATATATAT	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	242266	T T	TTACCTTC others(10): Show TTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	109	0.0092	17	c.613 others(34): Show c.613+4828_613+4844dupGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242300	T T	TTACCTTC others(10): Show TTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02027.hp1 HG02055.hp1 others(4): Show HG00099.hp2 HG02027.hp1 HG02055.hp1 HG02155.hp1 HG02572.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0002t0006 a0001c0003t0018	a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0002g0111 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0002g0111 a0001c0001t0006g0072 a0001c0001t0011g0003 a0001c0002t0006g0060 a0001c0003t0018g0019	7	80	0.0875	17	c.613 others(34): Show c.613+4794_613+4810dupGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242317	C C	CTACCTTC others(10): Show CTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	119	0.0084	17	c.613 others(34): Show c.613+4793_613+4794insATCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242334	C C	CTACCTTC others(10): Show CTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03516.hp1 HG02622.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0101 a0001c0001t0017g0099 a0001c0001t0003g0101 a0001c0001t0017g0099	2	120	0.0167	17	c.613 others(34): Show c.613+4776_613+4777insATCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242368	C C	CTACCTTC others(10): Show CTACCTTCCTCTATTGAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0118 a0001c0001t0027g0118	1	119	0.0084	17	c.613 others(34): Show c.613+4742_613+4743insATCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242609	C C	CCCTTCCT others(10): Show CCCTTCCTCTATTGATTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0064 a0001c0003t0036g0064	1	126	0.0079	17	c.613 others(34): Show c.613+4485_613+4501dupTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242867	C C	CCCTTCCT others(10): Show CCCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02027.hp2 others(9): Show HG01167.hp1 HG01884.hp1 HG02027.hp2 HG02055.hp2 HG02148.hp2 HG02698.hp1 HG03453.hp2 NA18612.hp1 NA18906.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0015 a0006c0007 a0007c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0004t0026 a0001c0015t0007 a0006c0007t0007 a0007c0014t0018	a0001c0001t0001g0024 a0001c0001t0003g0052 a0001c0001t0005g0100 others(9): Show a0001c0001t0001g0024 a0001c0001t0003g0052 a0001c0001t0005g0100 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0010g0129 a0001c0001t0013g0055 a0001c0002t0001g0123 a0001c0004t0026g0013 a0001c0015t0007g0026 a0006c0007t0007g0117 a0007c0014t0018g0102	12	105	0.1143	17	c.613 others(34): Show c.613+4227_613+4243dupTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242919	C C	CCCTTCCT others(10): Show CCCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01070.hp2 others(21): Show HG00099.hp1 HG00280.hp1 HG01070.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02818.hp2 HG03017.hp1 HG03540.hp1 HG04184.hp1 NA18940.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18963.hp2 NA19074.hp1 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0002t0001 a0001c0002t0009 a0001c0003t0018 a0001c0004t0001 a0008c0010t0003	a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0002g0049 others(21): Show a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0111 a0001c0001t0003g0083 a0001c0001t0004g0087 a0001c0001t0004g0092 a0001c0001t0006g0072 a0001c0001t0007g0098 a0001c0001t0010g0015 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0013g0108 a0001c0001t0025g0076 a0001c0001t0033g0063 a0001c0001t0035g0074 a0001c0002t0001g0057 a0001c0002t0009g0126 a0001c0003t0018g0019 a0001c0004t0001g0046 a0001c0004t0001g0062 a0001c0004t0001g0086 a0008c0010t0003g0084	24	125	0.1920	17	c.613 others(34): Show c.613+4175_613+4191dupTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242919	C C	CCTTTCCT others(10): Show CCTTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0037 a0001c0001t0015g0037	1	102	0.0098	17	c.613 others(34): Show c.613+4191_613+4192insTAGTCAATAGAGGAAAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242963	A A	ATTGACTA others(10): Show ATTGACTACCTTCCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	132	0.0076	17	c.613 others(34): Show c.613+4147_613+4148insGAGAGGAAGGTAGTCAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242968	C C	CTACCTTC others(10): Show CTACCTTCCTCTATTGAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02135.hp1 NA19088.hp1 HG02071.hp2 HG02135.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0031 a0001c0001t0002g0051 a0001c0001t0001g0027 a0001c0001t0002g0031 a0001c0001t0002g0051	3	122	0.0246	17	c.613 others(34): Show c.613+4126_613+4142dupTTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243019	A A	ATACCTTC others(10): Show ATACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01258.hp2 HG01358.hp1 others(5): Show HG00140.hp1 HG01258.hp2 HG01358.hp1 HG02071.hp1 HG02698.hp2 HG03017.hp2 HG03831.hp1 HG04184.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0002t0007 a0003c0005t0005	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0124 a0001c0001t0002g0116 a0001c0001t0003g0096 a0001c0002t0003g0033 a0001c0002t0007g0112 a0003c0005t0005g0035	8	95	0.0842	17	c.613 others(34): Show c.613+4091_613+4092insGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243194	T T	TTACCTTC others(10): Show TTACCTTCCTCTATTGAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0126 a0001c0002t0009g0126	1	126	0.0079	17	c.613 others(34): Show c.613+3900_613+3916dupGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243650	C C	CCCTTCCT others(10): Show CCCTTCCTCTATTGACTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp2 others(51): Show HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02559.hp1 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG03017.hp2 HG03831.hp1 HG03831.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18959.hp1 NA18959.hp2 NA18963.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19056.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0002c0012 a0003c0005 a0005c0009 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0032 a0001c0001t0034 a0001c0001t0037 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0030 a0001c0004t0001 a0001c0004t0004 a0001c0004t0026 a0001c0008t0001 a0001c0015t0007 a0002c0012t0005 a0003c0005t0005 a0003c0005t0023 a0005c0009t0001 a0006c0007t0007	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0030 others(51): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0002g0029 a0001c0001t0002g0116 a0001c0001t0003g0034 a0001c0001t0003g0052 a0001c0001t0003g0096 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0005g0100 a0001c0001t0006g0095 a0001c0001t0006g0105 a0001c0001t0007g0032 a0001c0001t0009g0094 a0001c0001t0010g0129 a0001c0001t0011g0007 a0001c0001t0012g0053 a0001c0001t0013g0055 a0001c0001t0014g0023 a0001c0001t0014g0025 a0001c0001t0015g0041 a0001c0001t0021g0077 a0001c0001t0032g0004 a0001c0001t0034g0018 a0001c0001t0037g0058 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0073 a0001c0002t0001g0123 a0001c0002t0002g0038 a0001c0002t0003g0033 a0001c0002t0003g0090 a0001c0002t0007g0112 a0001c0003t0001g0068 a0001c0003t0002g0059 a0001c0003t0030g0122 a0001c0004t0001g0050 a0001c0004t0004g0014 a0001c0004t0026g0013 a0001c0008t0001g0044 a0001c0015t0007g0026 a0002c0012t0005g0020 a0003c0005t0005g0035 a0003c0005t0023g0125 a0005c0009t0001g0054 a0006c0007t0007g0117	54	115	0.4696	17	c.613 others(34): Show c.613+3444_613+3460dupTAGTCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	243650	C C	CCCTTCCT others(10): Show CCCTTCCTCTATTGATTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01258.hp1 others(7): Show HG01070.hp1 HG01192.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp1 HG01943.hp2 HG02165.hp2 NA18993.hp2 NA19043.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0003t0028 a0001c0006t0004	a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0004g0008 others(7): Show a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0004g0008 a0001c0001t0004g0097 a0001c0001t0004g0121 a0001c0001t0008g0130 a0001c0001t0013g0107 a0001c0001t0014g0106 a0001c0003t0028g0088 a0001c0006t0004g0022	10	71	0.1408	17	c.613 others(34): Show c.613+3460_613+3461insTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	304420	T T	TTAAAATT others(10): Show TTAAAATTCCGTCGAGAG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	132	0.0076	17	c.351 others(36): Show c.351+14983_351+14999dupCTCTCGACGGAATTTTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(10): Show GAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0213 a0001c0003t0050g0213	1	7	0.1429	17	c.-28 others(26): Show c.-285_-284insAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03579.hp2 NA18612.hp2 others(2): Show HG01256.hp2 HG03579.hp2 NA18612.hp2 NA18963.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0001t0033 a0001c0001t0094 others(2): Show a0001c0001t0003 a0001c0001t0033 a0001c0001t0094 a0001c0002t0016 a0001c0003t0019	a0001c0001t0003g0015 a0001c0001t0033g0190 a0001c0001t0094g0203 others(2): Show a0001c0001t0003g0015 a0001c0001t0033g0190 a0001c0001t0094g0203 a0001c0002t0016g0249 a0001c0003t0019g0040	5	12	0.4167	17	c.83+ others(32): Show c.83+4676_83+4692dupAAAAAAAAAAAAAAAAA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPIA_chr2_88686673_88755929	88713120	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0283 a0001c0001t0003g0283	1	306	0.0033	17	c.402 others(36): Show c.402+13057_402+13058insATATATATATATATATT	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPIA_chr2_88686673_88755929	88713121	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0291	1	258	0.0039	17	c.402 others(36): Show c.402+13057_402+13058insATATATATATATATATA	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8			chr2	TogoVar
RPIA_chr2_88686673_88755929	88722453	T T	TGATAGTC others(10): Show TGATAGTCATTATTTAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG02451.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	2	366	0.0055	17	c.403 others(34): Show c.403-6823_403-6807dupATAGTCATTATTTAAAG	RPIA	ENSG00000153574.9	transcript	ENST00000283646.5	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(10): Show ATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0002 a0002c0002t0004g0002	1	155	0.0065	17	c.-17 others(28): Show c.-1706_-1705insTATATATATATATATTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0016 a0002c0002t0002g0016	1	155	0.0065	17	c.-17 others(28): Show c.-1706_-1705insTATATATATATTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	18	0.0556	17	c.20 others(28): Show c.2019_*2020insTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL18_chr19_48610331_48624178	48621006	C C	CGCCAGGA others(10): Show CGCCAGGAGGTCTTGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	17	c.-18 others(28): Show c.-1864_-1863insCTGCAAGACCTCCTGGC	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding		1829		chr19	TogoVar
RPL22_chr1_6180020_6204595	6195369	T T	TGGGAGGC others(10): Show TGGGAGGCGGAGCTTGCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	370	0.0027	17	c.117 others(34): Show c.117+2266_117+2282dupTGCAAGCTCCGCCTCCC	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	2/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38842865	C C	CTATCTAT others(10): Show CTATCTATCTATCTATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	416	0.0024	17	c.72 others(28): Show c.7266_*7267insAGATAGATAGATAGATA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4994		chr17	TogoVar
RPL23_chr17_38842860_38858721	38850518	C C	CGCAGTGC others(10): Show CGCAGTGCCACCACAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	416	0.0024	17	c.227 others(30): Show c.227-60_227-44dupTTTTGTGGTGGCACTGC	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding	3/4			chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19063.hp2 HG03492.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0077 a0001c0001t0001g0090	2	9	0.2222	17	c.192 others(34): Show c.192+1025_192+1041dupTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26L1_chr5_172954424_172974771	172964281	C C	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 HG02056.hp2 others(3): Show HG01071.hp1 HG01255.hp2 HG02056.hp2 HG02630.hp2 HG04115.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0171 a0001c0001t0002g0174 others(2): Show a0001c0001t0002g0055 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176	6	106	0.0566	17	c.169 others(34): Show c.169-4178_169-4177insCTTTTTTTTTTTTTTTT	RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding	2/3			chr5	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02602.hp1 HG02717.hp1 others(3): Show HG02109.hp1 HG02602.hp1 HG02717.hp1 NA18963.hp2 NA18964.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0069	6	67	0.0896	17	c.26 others(28): Show c.2610_*2626dupTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL28_chr19_55380932_55397085	55384297	T T	TTCCGGGG others(10): Show TTCCGGGGTGCGGCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	312	0.0032	17	c.-16 others(28): Show c.-1677_-1676insTCCGGGGTGCGGCCCGG	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding		1634		chr19	TogoVar
RPL35A_chr3_197945190_197961610	197956624	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	319	0.0031	17	c.85 others(26): Show c.851_*852insTTTTTTTTTTTTTTTTT	RPL35A	ENSG00000182899.17	transcript	ENST00000647248.2	protein_coding		15		chr3	TogoVar
RPL3_chr22_39307882_39324623	39320476	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	59	0.0169	17	c.-88 others(26): Show c.-880_-879insAAAAAAAAAAAAAAAAA	RPL3	ENSG00000100316.16	transcript	ENST00000216146.9	protein_coding		854		chr22	TogoVar
RPL5_chr1_92827040_92846924	92831757	G G	GAAAACAA others(10): Show GAAAACAAAACAAAACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	91	0.0110	17	c.-35 others(26): Show c.-358_-357insAAAACAAAACAAAACAA	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		282		chr1	TogoVar
RPLP0_chr12_120191699_120206111	120193656	C C	CTGCCATA others(10): Show CTGCCATACTGGACATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	370	0.0027	17	c.31 others(28): Show c.3100_*3116dupCAATGTCCAGTATGGCA	RPLP0	ENSG00000089157.16	transcript	ENST00000392514.9	protein_coding		3042		chr12	TogoVar
RPN2_chr20_37174330_37246619	37187501	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG02055.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	2	314	0.0064	17	c.207 others(34): Show c.207+3131_207+3147dupAAAAAAAAAAAAAAAAA	RPN2	ENSG00000118705.18	transcript	ENST00000237530.11	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPP25_chr15_74949418_74961772	74950068	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA19240.hp2 HG02071.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	103	0.0194	17	c.59 others(28): Show c.5915_*5916insAAAAAAAAAAAAAAAAA	RPP25	ENSG00000178718.7	transcript	ENST00000322177.6	protein_coding		4349		chr15	TogoVar
RPRD1B_chr20_38028746_38097364	38076906	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0261 a0001c0003t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0260	2	91	0.0220	17	c.831 others(36): Show c.831+10664_831+10680dupTTTTTTTTTTTTTTTTT	RPRD1B	ENSG00000101413.12	transcript	ENST00000373433.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	32	0.0313	17	c.336 others(34): Show c.336-9442_336-9426dupTTTTTTTTTTTTTTTTT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRML_chr17_46973156_46984253	46978227	A A	ACAAGCTC others(10): Show ACAAGCTCAGCGACTCTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0000 a0002c0002t0006g0000	1	450	0.0022	17	c.40 others(26): Show c.401_*417dupCAGAGTCGCTGAGCTTG	RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding	1/1	417		chr17	TogoVar
RPRML_chr17_46973156_46984253	46980666	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02155.hp1 NA18939.hp1 others(1): Show HG01167.hp1 HG02155.hp1 NA18939.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	4	54	0.0741	17	c.-16 others(28): Show c.-1660_-1659insTTTTTTTTTTTTTTTTT	RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding		1414		chr17	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19066.hp1 NA19240.hp1 others(1): Show HG02976.hp1 NA19066.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 others(1): Show a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0099	4	7	0.5714	17	c.322 others(32): Show c.322+512_322+528dupTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5			chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA18957.hp1 HG02055.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0112 a0001c0001t0005g0049 a0001c0001t0001g0112 a0001c0001t0005g0049	2	5	0.4000	17	c.-10 others(28): Show c.-1048_-1047insTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar

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