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
RORA_chr15_60483284_61234302	60816614	C C	CAGTATAT others(19): Show CAGTATATGTATTTATATACTGTAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 HG03139.hp2 HG01109.hp1 HG02165.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0030 a0001c0005t0004 a0001c0001t0002 a0001c0001t0030 a0001c0005t0004	a0001c0001t0002g0059 a0001c0001t0030g0076 a0001c0005t0004g0027 a0001c0001t0002g0059 a0001c0001t0030g0076 a0001c0005t0004g0027	3	56	0.0536	26	c.167 others(47): Show c.167-137929_167-137928insATTTACAGTATATAAATACATATA CT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02647.hp2 HG03225.hp1 HG00280.hp1 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0047 a0001c0001t0005 a0001c0001t0012 a0001c0001t0047	a0001c0001t0005g0073 a0001c0001t0012g0034 a0001c0001t0047g0023 a0001c0001t0005g0073 a0001c0001t0012g0034 a0001c0001t0047g0023	3	9	0.3333	26	c.166 others(47): Show c.166+175204_166+175205insATATATATATATATATATATATAT AT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORB_chr9_74492335_74698177	74514804	A A	ACTACAGT others(19): Show ACTACAGTCTAGGCGTTGACCACAGTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0174 a0001c0001t0053g0174	1	167	0.0060	26	c.7+1 others(41): Show c.7+16824_7+16825insCAGTCTAGGCGTTGACCACAGTTCTA	RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RORC_chr1_151801071_151836802	151830621	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	310	0.0032	26	c.40+ others(41): Show c.40+1078_40+1103dupGTGTGTGTGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RORC_chr1_151801071_151836802	151830659	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02055.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0288 a0001c0001t0003g0289 a0001c0001t0001g0288 a0001c0001t0003g0289	2	148	0.0135	26	c.40+ others(41): Show c.40+1065_40+1066insATGTGTGTGTGTGTGTGTGTGTGTGT	RORC	ENSG00000143365.20	transcript	ENST00000318247.7	protein_coding	1/10			chr1	TogoVar
RP2_chrX_46832043_46887358	46847794	G G	GTGTATAT others(19): Show GTGTATATACACACATATGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	272	0.0037	26	c.103 others(43): Show c.103-5679_103-5678insATATACACACATATGTGTGTATATGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPA1_chr17_1825005_1905082	1891503	T T	TCCGCCTC others(19): Show TCCGCCTCCCGGGTTCAAGTGATTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG02129.hp2 HG02132.hp1 HG02602.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18956.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18990.hp1 NA19005.hp2 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp2 NA19074.hp2 NA19078.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0014t0002 a0002c0009t0001 a0002c0009t0003	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0061 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0002g0060 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0003g0009 a0001c0001t0003g0024 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0081 a0001c0001t0004g0088 a0001c0001t0012g0055 a0001c0001t0012g0056 a0001c0001t0012g0111 a0001c0001t0042g0069 a0001c0002t0001g0182 a0001c0002t0001g0229 a0001c0002t0002g0116 a0001c0002t0002g0125 a0001c0002t0008g0308 a0001c0002t0008g0353 a0001c0014t0002g0123 a0002c0009t0001g0110 a0002c0009t0003g0085	69	399	0.1729	26	c.155 others(43): Show c.1552-322_1552-297dupCCGGGTTCAAGTGATTCTCCCGCCTC	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA1_chr17_1825005_1905082	1891503	T T	TCCGCCTC others(19): Show TCCGCCTCCCGGGTTCAAGTTATTCTC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	331	0.0030	26	c.155 others(43): Show c.1552-311_1552-310insTATTCTCCCGCCTCCCGGGTTCAAGT	RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(19): Show TATATATATATATACACACATACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG06807.hp2 NA18522.hp2 HG01884.hp2 HG06807.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0123	3	312	0.0096	26	c.-40 others(37): Show c.-4031_-4030insATATATATATATACACACATACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(19): Show TATATATATATATATACACACATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02970.hp2 HG02280.hp1 HG02451.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	312	0.0096	26	c.-40 others(37): Show c.-4031_-4030insATATATATATATATACACACATACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03486.hp2 NA18970.hp1 HG01256.hp2 HG03486.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0002c0004t0069 a0001c0001t0002 a0001c0001t0004 a0002c0004t0069	a0001c0001t0002g0070 a0001c0001t0004g0185 a0002c0004t0069g0011 a0001c0001t0002g0070 a0001c0001t0004g0185 a0002c0004t0069g0011	3	53	0.0566	26	c.399 others(43): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp2 HG01257.hp2 others(16): Show HG00609.hp1 HG01109.hp2 HG01257.hp2 HG03490.hp1 HG04115.hp1 NA18747.hp2 NA18946.hp1 NA18952.hp2 NA18959.hp2 NA18973.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA19011.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp2 NA19089.hp2	a0002 a0006 a0012 others(1): Show a0002 a0006 a0012 a0015	a0002c0002 a0006c0008 a0012c0024 others(1): Show a0002c0002 a0006c0008 a0012c0024 a0015c0015	a0002c0002t0001 a0006c0008t0002 a0012c0024t0001 others(1): Show a0002c0002t0001 a0006c0008t0002 a0012c0024t0001 a0015c0015t0015	a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0153 others(16): Show a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0153 a0002c0002t0001g0156 a0002c0002t0001g0160 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0170 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0185 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0197 a0006c0008t0002g0253 a0012c0024t0001g0157 a0015c0015t0015g0151	19	100	0.1900	26	c.361 others(45): Show c.3616+1926_3616+1951dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	10	0.1000	26	c.-42 others(37): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	319	0.0031	26	c.218 others(43): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTTTCT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGR_chrX_38279408_38332509	38332504	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	63	0.0159	26	c.-51 others(37): Show c.-5138_-5137insTATATATATATATATATATATATATA	RPGR	ENSG00000156313.15	transcript	ENST00000645032.1	protein_coding		4996		chrX	TogoVar
RPH3AL_chr17_207389_357807	287047	T T	TCTCTCTC others(19): Show TCTCTCTCCACCATCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	132	0.0076	26	c.352 others(43): Show c.352-5194_352-5193insGGTGTGAGGTCTGATGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288705	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0088 a0001c0003t0028g0088	1	115	0.0087	26	c.352 others(43): Show c.352-6852_352-6851insGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288865	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACACC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	46	0.0217	26	c.352 others(43): Show c.352-7012_352-7011insGGTGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288865	T T	TCTCTCTC others(19): Show TCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02818.hp2 others(1): Show HG01243.hp2 HG02055.hp2 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0022 a0001c0002t0006	a0001c0001t0006g0105 a0001c0001t0010g0015 a0001c0001t0022g0071 others(1): Show a0001c0001t0006g0105 a0001c0001t0010g0015 a0001c0001t0022g0071 a0001c0002t0006g0060	4	49	0.0816	26	c.352 others(43): Show c.352-7037_352-7012dupGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320027	A A	AGGGGGAG others(19): Show AGGGGGAGGGAGACTGAGGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	130	0.0077	26	c.222 others(41): Show c.222-479_222-478insCTCCCTCCCCTCAGTCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320068	A A	AGGGGGAG others(19): Show AGGGGGAGGGAGGGGGAGGGACATTGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0077 a0001c0001t0021g0077	1	132	0.0076	26	c.222 others(41): Show c.222-520_222-519insTCAATGTCCCTCCCCCTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	320227	A A	AGGGGGAG others(19): Show AGGGGGAGGGACATTGAGGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	128	0.0078	26	c.222 others(41): Show c.222-679_222-678insCTCCCTCCCCTCAATGTCCCTCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791864	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAGAGAG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0256 a0001c0002t0049g0256	1	258	0.0039	26	c.-28 others(35): Show c.-286_-285insAGAGAGAGAGAGAGAGAGAGAGAGAG	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36452	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(19): Show GGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG02886.hp1 others(9): Show HG01496.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03471.hp1 HG03486.hp2 NA18979.hp2 NA18993.hp1 NA19007.hp1 NA19089.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0007	a0001c0001t0027 a0001c0001t0028 a0001c0001t0115 others(8): Show a0001c0001t0027 a0001c0001t0028 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0002t0118 a0001c0002t0120 a0001c0002t0121 a0001c0002t0122 a0003c0005t0114 a0004c0007t0119	a0001c0001t0027g0037 a0001c0001t0027g0206 a0001c0001t0028g0004 others(9): Show a0001c0001t0027g0037 a0001c0001t0027g0206 a0001c0001t0028g0004 a0001c0001t0115g0038 a0001c0001t0116g0033 a0001c0001t0117g0204 a0001c0002t0118g0007 a0001c0002t0120g0001 a0001c0002t0121g0069 a0001c0002t0122g0072 a0003c0005t0114g0023 a0004c0007t0119g0207	12	18	0.6667	26	c.-27 others(35): Show c.-272_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112841173	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0141 a0001c0003t0141	a0001c0003t0141g0084 a0001c0003t0141g0084	1	8	0.1250	26	c.83+ others(41): Show c.83+4692_83+4693insAAAAAAAAAAAAAAAAAAAAAAAAAA	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(19): Show ATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	26	c.-17 others(37): Show c.-1706_-1705insTATATATATATATATATATATATATT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(19): Show ATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	155	0.0065	26	c.-17 others(37): Show c.-1706_-1705insTATATATATATATTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	1	55	0.0182	26	c.50 others(37): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02735.hp2 HG03491.hp1 others(2): Show HG02155.hp2 HG02735.hp2 HG03491.hp1 NA18980.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0157 a0001c0001t0001g0023 a0001c0001t0001g0157	5	12	0.4167	26	c.192 others(43): Show c.192+1016_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02647.hp1 HG03017.hp1 others(1): Show HG00438.hp1 HG02647.hp1 HG03017.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	4	65	0.0615	26	c.26 others(37): Show c.2601_*2626dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	16	0.0625	26	c.-90 others(35): Show c.-900_-899insACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL27_chr17_42993419_43007959	43007847	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19240.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0036 a0001c0001t0002g0022 a0001c0001t0001g0036 a0001c0001t0002g0022	2	24	0.0833	26	c.49 others(37): Show c.4927_*4928insTATATATATATATATATATATATATA	RPL27	ENSG00000131469.15	transcript	ENST00000253788.12	protein_coding		4889		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02895.hp1 others(7): Show HG02622.hp2 HG02886.hp1 HG02895.hp1 HG04115.hp2 NA18948.hp1 NA18975.hp2 NA18991.hp2 NA19004.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0004g0020 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0004g0020 a0001c0001t0005g0042	10	159	0.0629	26	c.43 others(37): Show c.4383_*4408dupTATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL39L_chr3_187115948_187144496	187134496	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	389	0.0026	26	c.-93 others(43): Show c.-93+4716_-93+4717insCTTTTTTTTTTTTTTTTTTTTTTTTT	RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2			chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	8	0.1250	26	c.790 others(45): Show c.790-15278_790-15277insTATATATATATATATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	8	0.1250	26	c.790 others(45): Show c.790-15278_790-15277insTATATATATATATATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(37): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00673.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02602.hp1 HG03017.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG03942.hp2 NA18949.hp2 NA18960.hp1 NA18989.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19059.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0101 others(34): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0217 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257	40	47	0.8511	26	c.790 others(45): Show c.790-15278_790-15277insTATATATATATATATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	32	0.0313	26	c.336 others(43): Show c.336-9426_336-9425insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS10_chr6_34412454_34431069	34424140	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	4	0.2500	26	c.322 others(41): Show c.322+528_322+529insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	3/5			chr6	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG03471.hp2 HG04204.hp1 HG02559.hp1 HG03471.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0015 a0001c0001t0002g0056 a0001c0001t0002g0057	3	6	0.5000	26	c.-10 others(37): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS27L_chr15_63143249_63162477	63146250	A A	ATTTTAAC others(19): Show ATTTTAACATTAAATGTTTAATGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02015.hp2 HG02027.hp2 others(9): Show HG00438.hp2 HG02015.hp2 HG02027.hp2 HG02080.hp1 NA18940.hp1 NA18950.hp2 NA18952.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0024 a0001c0001t0001 a0001c0001t0010 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0010g0011 a0001c0001t0024g0100 a0001c0001t0001g0001 a0001c0001t0010g0011 a0001c0001t0024g0100	12	310	0.0387	26	c.77 others(37): Show c.7781_*7782insAAAACATTAAACATTTAATGTTAAAA	RPS27L	ENSG00000185088.14	transcript	ENST00000330964.10	protein_coding		1998		chr15	TogoVar
RPS6KA2_chr6_166404364_166632251	166480514	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0017 a0001c0015t0017	a0001c0015t0017g0020 a0001c0015t0017g0020	1	202	0.0050	26	c.907 others(43): Show c.907+8318_907+8319insTTATATATATATATATATATATATAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02132.hp1 NA18946.hp1 others(2): Show HG01175.hp1 HG02132.hp1 NA18946.hp1 NA18951.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0022 others(1): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0022 a0002c0002t0040	a0002c0002t0003g0041 a0002c0002t0003g0044 a0002c0002t0006g0034 others(2): Show a0002c0002t0003g0041 a0002c0002t0003g0044 a0002c0002t0006g0034 a0002c0002t0022g0013 a0002c0002t0040g0037	5	212	0.0236	26	c.501 others(43): Show c.501+4719_501+4720insATATATATATATATATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84150848	T T	TATATATA others(19): Show TATATATATATAGAGGATATATATAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0087 a0001c0001t0029g0087	1	269	0.0037	26	c.259 others(43): Show c.259-2751_259-2726dupCCTATATATATCCTCTATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84150910	G G	GAGAGGAT others(19): Show GAGAGGATATATATAGGATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02698.hp1 HG02258.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0078 a0001c0001t0002 a0001c0001t0078	a0001c0001t0002g0167 a0001c0001t0078g0255 a0001c0001t0002g0167 a0001c0001t0078g0255	2	270	0.0074	26	c.259 others(43): Show c.259-2813_259-2788dupATATATATATCCTATATATATCCTCT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213205536	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00741.hp1 others(7): Show HG00609.hp1 HG00639.hp2 HG00741.hp1 HG01106.hp2 NA18747.hp2 NA18960.hp2 NA18971.hp1 NA19057.hp2 NA19058.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0084 others(7): Show a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0228 a0001c0001t0001g0292 a0001c0001t0001g0305 a0002c0002t0001g0248 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0269	10	145	0.0690	26	c.104 others(47): Show c.1045-24951_1045-24950insTATATATATATATATATATATATA TA	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(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02615.hp1 HG03453.hp2 others(2): Show HG02572.hp1 HG02615.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	412	0.0121	26	c.-37 others(37): Show c.-3744_-3743insGCACACACACACACACACACACACAC	RPS6	ENSG00000137154.13	transcript	ENST00000380394.9	protein_coding		3703		chr9	TogoVar
RPS7_chr2_3570260_3585920	3584956	T T	TGATTTTG others(19): Show TGATTTTGAACTCCTGGGTTCAAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	26	c.40 others(37): Show c.4074_*4075insGATTTTGAACTCCTGGGTTCAAGTGA	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		4037		chr2	TogoVar
RPS9_chr19_54195858_54212647	54197713	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	216	0.0046	26	c.-32 others(37): Show c.-3201_-3200insTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS9	ENSG00000170889.14	transcript	ENST00000302907.9	protein_coding		3144		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80681564	T T	TTCTCTTA others(19): Show TTCTCTTACACCTTCATGAGGTGTACG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01978.hp1 HG01361.hp1 HG01978.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0007 a0001c0015t0007	a0001c0015t0007g0140 a0001c0015t0007g0146 a0001c0015t0007g0140 a0001c0015t0007g0146	2	193	0.0104	26	c.349 others(45): Show c.349-26189_349-26164dupCCTTCATGAGGTGTACGTCTCTTACA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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