Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RNF222_chr17_8385702_8402827	8401514	T T	TTCTTGTT others(33): Show TTCTTGTTTTCTAATATAAATAATAAAATTAATTAAATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0088 a0005c0006t0003g0088	1	436	0.0023	40	c.-39 others(51): Show c.-3998_-3997insTAAATTTAATTAATTTTATTATTTATATTAGAAA ACAAGA	RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding		3688		chr17	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	350	0.0029	40	c.-2- others(55): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNGTT_chr6_88604897_88968618	88930040	G G	GCATATAT others(33): Show GCATATATACATATACATGTATATGCATATGTATACATATA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	220	0.0046	40	c.175 others(55): Show c.175-813_175-774dupTATATGTATACATATGCATATACATGTATA TGTATATATG	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	2/15			chr6	TogoVar
ROBO1_chr3_78592239_79772998	78718844	G G	GAGGGAGA others(33): Show GAGGGAGAGAGGGAGGGAGGGAGGCAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01884.hp2 others(9): Show HG01109.hp1 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02717.hp1 HG03139.hp2 HG03486.hp1 HG03490.hp2 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0002c0004 others(2): Show a0001c0002 a0001c0003 a0002c0004 a0003c0009 a0004c0010	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(8): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0002c0004t0001 a0002c0004t0007 a0003c0009t0017 a0004c0010t0002	a0001c0002t0001g0028 a0001c0002t0004g0021 a0001c0002t0013g0008 others(9): Show a0001c0002t0001g0028 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0002t0016g0044 a0001c0003t0001g0023 a0001c0003t0002g0033 a0001c0003t0006g0018 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0009t0017g0042 a0004c0010t0002g0031	12	44	0.2727	40	c.658 others(55): Show c.658-962_658-961insTCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCTCTCCCT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	5/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	44	0.0227	40	c.88+ others(57): Show c.88+39628_88+39629insTTTCTTTCCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79771158	A A	ACATATAT others(33): Show ACATATATATGTATATATACACATATATACACACATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02717.hp1 others(1): Show HG02055.hp2 HG02451.hp1 HG02717.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0003c0009	a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 others(1): Show a0001c0001t0014 a0001c0002t0016 a0001c0008t0015 a0003c0009t0017	a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 others(1): Show a0001c0001t0014g0041 a0001c0002t0016g0044 a0001c0008t0015g0043 a0003c0009t0017g0042	4	44	0.0909	40	c.-34 others(51): Show c.-3458_-3457insCATATATGTGTGTATATATGTGTATATATACATA TATATG	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding		3161		chr3	TogoVar
ROBO2_chr3_77035099_77654964	77322875	G G	GTAATATA others(33): Show GTAATATATTATATTATACATATGTATTATAATATATTATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG01255.hp1 others(27): Show HG00280.hp2 HG00735.hp1 HG01255.hp1 HG01978.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02293.hp2 HG02738.hp2 HG02895.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp1 NA18945.hp2 NA18957.hp2 NA18959.hp2 NA18973.hp2 NA18986.hp1 NA19000.hp2 NA19006.hp1 NA19043.hp2 NA19077.hp2 NA19079.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0006 a0006c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0031 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0014 a0001c0002t0046 a0001c0002t0047 a0001c0003t0026 a0002c0004t0007 a0003c0006t0002 a0006c0012t0033	a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0003g0048 others(27): Show a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0003g0048 a0001c0001t0004g0010 a0001c0001t0004g0109 a0001c0001t0004g0148 a0001c0001t0004g0150 a0001c0001t0005g0050 a0001c0001t0005g0155 a0001c0001t0006g0025 a0001c0001t0006g0030 a0001c0001t0006g0152 a0001c0001t0008g0032 a0001c0001t0012g0045 a0001c0001t0031g0156 a0001c0002t0001g0038 a0001c0002t0002g0091 a0001c0002t0002g0128 a0001c0002t0008g0028 a0001c0002t0010g0037 a0001c0002t0010g0131 a0001c0002t0010g0144 a0001c0002t0014g0082 a0001c0002t0046g0004 a0001c0002t0047g0026 a0001c0003t0026g0081 a0002c0004t0007g0116 a0003c0006t0002g0092 a0003c0006t0002g0141 a0006c0012t0033g0018	30	160	0.1875	40	c.389 others(61): Show c.389-154517_389-154516insGTATTATAATATATTATATAATAT ATTATATTATACATAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11238209	A A	AGTGTGTG others(33): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0241	1	320	0.0031	40	c.463 others(57): Show c.463-2248_463-2247insACACACACACACACACACACACACACAC ACACACACACAC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	4/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	320	0.0031	40	c.142 others(57): Show c.142-8255_142-8254insTCTCTCCCTCTCTCTCTCTCTCTCTCCT CTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GAGAGAGG others(33): Show GAGAGAGGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	320	0.0031	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCCCCC TCTCCCCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(33): Show GGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	320	0.0031	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11296005	G G	GGGGAGAG others(33): Show GGGGAGAGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18942.hp1 NA19054.hp2 others(3): Show NA18939.hp1 NA18942.hp1 NA19054.hp2 NA19064.hp2 NA19080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 others(3): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0139 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0008g0122	6	320	0.0188	40	c.142 others(57): Show c.142-8270_142-8269insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCCCTCTCCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11331017	A A	AAGGAGGG others(33): Show AAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	320	0.0031	40	c.141 others(59): Show c.141+12978_141+12979insCCTCCCTCCTCCTCCCTCCTCCTCCC TCCTCCTCCCTCCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	64014713	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02886.hp1 HG03041.hp1 others(2): Show HG01070.hp2 HG02886.hp1 HG03041.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0009	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0007t0004 a0002c0009t0005	a0001c0001t0001g0058 a0001c0002t0001g0093 a0001c0005t0001g0055 others(2): Show a0001c0001t0001g0058 a0001c0002t0001g0093 a0001c0005t0001g0055 a0001c0007t0004g0027 a0002c0009t0005g0048	5	96	0.0521	40	c.163 others(57): Show c.163+5351_163+5352insTATATATATATATATATATATATATATA TATATATATATA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0064 a0002c0004t0003g0064	1	96	0.0104	40	c.163 others(57): Show c.163+5398_163+5399insTATATATATATATATATATATATATATA TATATACACACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91836539	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0222 a0006c0011t0001g0222	1	226	0.0044	40	c.98- others(57): Show c.98-60722_98-60721insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60515957	T T	TTATATAT others(33): Show TTATATATATTTATATATTTATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp1 HG01169.hp2 others(10): Show HG01109.hp1 HG01123.hp1 HG01169.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02738.hp1 HG02897.hp2 HG03195.hp1 HG03486.hp1 HG03654.hp1 HG03654.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0030 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039	a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0092 others(10): Show a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0008g0033 a0001c0001t0011g0021 a0001c0001t0017g0014 a0001c0001t0017g0098 a0001c0001t0030g0076 a0001c0001t0035g0101 a0001c0001t0036g0102 a0001c0001t0037g0105 a0001c0001t0039g0009	13	118	0.1102	40	c.283 others(57): Show c.283-1201_283-1200insTAAATATATATAAATATATATAAATATA TAAATATATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60517463	T T	TTTTTATT others(33): Show TTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0039 a0001c0003t0027g0039	1	118	0.0085	40	c.283 others(57): Show c.283-2707_283-2706insTAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	3/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp1 HG02717.hp1 others(2): Show HG01884.hp2 HG02572.hp1 HG02717.hp1 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0013 a0001c0001t0020 a0001c0001t0045 others(1): Show a0001c0001t0013 a0001c0001t0020 a0001c0001t0045 a0001c0005t0004	a0001c0001t0013g0085 a0001c0001t0020g0108 a0001c0001t0045g0004 others(2): Show a0001c0001t0013g0085 a0001c0001t0020g0108 a0001c0001t0045g0004 a0001c0005t0004g0024 a0001c0005t0004g0082	5	118	0.0424	40	c.166 others(61): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATATATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847745	T T	TGTGTGTG others(33): Show TGTGTGTGTATATACACACATATGTGTGTGTATATACACAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	274	0.0037	40	c.103 others(57): Show c.103-5723_103-5722insATATACACACATATGTGTGTGTATATAC ACACGTGTGTGT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPEL1_chr10_103240887_103253016	103248539	C C	CTGACCTG others(33): Show CTGACCTGTATTAAAACCCAGCTCATTTGTTTTTAGAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	375	0.0027	40	c.18 others(51): Show c.1856_*1857insTGACCTGTATTAAAACCCAGCTCATTTGTTTTTA GAACTT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		524		chr10	TogoVar
RPF2_chr6_110977038_111033263	110994727	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0320 a0002c0002t0010g0320	1	360	0.0028	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATATATATA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0328 a0001c0001t0007g0328	1	360	0.0028	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATACACACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03540.hp2 NA19240.hp1 HG02559.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0330 a0001c0001t0007g0017 a0001c0001t0007g0330	3	360	0.0083	40	c.235 others(57): Show c.235-2448_235-2447insTATATATATATATATATATATATATATA TATATACACACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1_chr14_21275083_21356301	21304416	A A	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	332	0.0030	40	c.800 others(55): Show c.800+903_800+904insGAAAGAAAGGAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(33): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00438.hp1 HG01169.hp2 HG01192.hp1 others(12): Show HG00438.hp1 HG01169.hp2 HG01192.hp1 HG01496.hp1 HG01515.hp1 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp1 NA18612.hp1 NA18992.hp2 NA19085.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0010c0017	a0001c0001t0041 a0001c0001t0166 a0001c0001t0167 others(8): Show a0001c0001t0041 a0001c0001t0166 a0001c0001t0167 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0002t0011 a0001c0003t0040 a0001c0006t0168 a0010c0017t0165	a0001c0001t0041g0169 a0001c0001t0041g0194 a0001c0001t0166g0025 others(12): Show a0001c0001t0041g0169 a0001c0001t0041g0194 a0001c0001t0166g0025 a0001c0001t0167g0051 a0001c0001t0169g0106 a0001c0001t0170g0152 a0001c0001t0171g0157 a0001c0001t0172g0021 a0001c0002t0011g0112 a0001c0002t0011g0156 a0001c0002t0011g0183 a0001c0003t0040g0086 a0001c0003t0040g0087 a0001c0006t0168g0254 a0010c0017t0165g0030	15	266	0.0564	40	c.-24 others(49): Show c.-247_-246insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATATATTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATATTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(33): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	40	c.-17 others(51): Show c.-1706_-1705insTATATATATATATATATTTTTTTTTTTTTTTTTT TTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(33): Show CCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	382	0.0026	40	c.297 others(53): Show c.297+82_297+83insTGCTGTGCTGTGCTGTGCTGTGCTGTGCTGTG CTGTGCTG	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6			chr19	TogoVar
RPL22_chr1_6180020_6204595	6189167	G G	GCTCCACA others(33): Show GCTCCACACCAACAAAGCAATCTCCACACCAACAAAGCAAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02896.hp2 others(3): Show HG02559.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	6	372	0.0161	40	c.243 others(57): Show c.243-2391_243-2352dupATTGCTTTGTTGGTGTGGAGATTGCTTT GTTGGTGTGGAG	RPL22	ENSG00000116251.11	transcript	ENST00000234875.9	protein_coding	3/3			chr1	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(33): Show GTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	40	c.72 others(51): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGATAGACAGACA GACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(33): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	418	0.0024	40	c.72 others(51): Show c.7260_*7261insTAGATAGATAGATAGATAGATAGACAGACAGACA GACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL26L1_chr5_172954424_172974771	172958838	T T	TGAGAGGG others(33): Show TGAGAGGGGCGGGGTCTAGGAGAGAGGGGCGGGGTCTAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA19007.hp1 NA18965.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0003 a0001c0001t0001g0014	2	386	0.0052	40	c.-64 others(49): Show c.-640_-639insGAGAGGGGCGGGGTCTAGGAGAGAGGGGCGGGGTCT AGGA	RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding		585		chr5	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	40	c.44 others(51): Show c.4414_*4415insTATATATATATATATATATATATATATACACACA CACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18963.hp2 NA18747.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	448	0.0045	40	c.44 others(51): Show c.4408_*4409insTATATATATATATATATATATATATATATATATA TATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0077 a0001c0001t0018g0077	1	446	0.0022	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA19059.hp1 NA18984.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0008g0021 a0001c0001t0003g0001 a0001c0001t0008g0021	2	446	0.0045	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPL38_chr17_74198678_74215655	74199262	G G	GAGAGAGA others(33): Show GAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	446	0.0045	40	c.-45 others(51): Show c.-4522_-4521insAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG AAAGAA	RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding		4415		chr17	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	318	0.0031	40	c.790 others(59): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008573	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	318	0.0031	40	c.790 others(59): Show c.790-15274_790-15273insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	318	0.0031	40	c.790 others(59): Show c.790-15276_790-15275insTATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02735.hp2 HG03579.hp1 others(2): Show HG02717.hp2 HG02735.hp2 HG03579.hp1 NA18943.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0217 a0001c0001t0001g0219 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0227 a0001c0001t0004g0218	5	318	0.0157	40	c.790 others(59): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATATACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(33): Show GTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02451.hp2 HG00642.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0100 a0001c0001t0018g0124 a0001c0001t0001g0100 a0001c0001t0018g0124	2	318	0.0063	40	c.790 others(59): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATATACACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008589	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0270 a0001c0001t0003g0272	2	318	0.0063	40	c.790 others(59): Show c.790-15290_790-15289insGATATATATATATATATATATATATA TATATATATATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS2_chr16_1957058_1969826	1962059	A A	AACACGCT others(33): Show AACACGCTTAATTCACTTTATTTTTCTTGTATAAAAACCCT	splice_region_variant splice_region_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	438	0.0023	40	c.881 others(47): Show c.881_*38dupAGGGTTTTTATACAAGAAAAATAAAGTGAATTAAGCGT GT	RPS2	ENSG00000140988.16	transcript	ENST00000343262.9	protein_coding	7/7			chr16	TogoVar
RPS6KA6_chrX_84053350_84193199	84191617	T T	TATATATA others(33): Show TATATATATATCCATATATATATATCCATATATATATATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA19058.hp1 NA19079.hp1 NA18944.hp1 NA19058.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0065 a0001c0001t0016 a0001c0001t0065	a0001c0001t0016g0199 a0001c0001t0016g0200 a0001c0001t0065g0198 a0001c0001t0016g0199 a0001c0001t0016g0200 a0001c0001t0065g0198	3	272	0.0110	40	c.-37 others(51): Show c.-3758_-3719dupGGATATATATATATGGATATATATATATGGATAT ATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3419		chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18968.hp1 NA19006.hp2 HG03669.hp1 NA18968.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0297 a0001c0001t0001g0314 a0001c0001t0001g0082 a0001c0001t0001g0297 a0001c0001t0001g0314	3	330	0.0091	40	c.472 others(55): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS7_chr2_3570260_3585920	3585482	A A	AGATCTCA others(33): Show AGATCTCATGCCTCTGCTCCGGATCTCATGCCTGTGCTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG03195.hp2 HG01884.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	2	430	0.0047	40	c.46 others(51): Show c.4600_*4601insGATCTCATGCCTCTGCTCCGGATCTCATGCCTGT GCTCCG	RPS7	ENSG00000171863.15	transcript	ENST00000645674.2	protein_coding		4563		chr2	TogoVar

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