JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp1 NA18906.hp1 others(2): Show HG02280.hp1 HG03516.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0009 a0001c0002t0056 a0001c0006t0004 others(1): Show a0001c0001t0009 a0001c0002t0056 a0001c0006t0004 a0001c0007t0003	a0001c0001t0009g0038 a0001c0001t0009g0079 a0001c0002t0056g0110 others(2): Show a0001c0001t0009g0038 a0001c0001t0009g0079 a0001c0002t0056g0110 a0001c0006t0004g0001 a0001c0007t0003g0097	5	118	0.0424	30	c.196 others(47): Show c.196+7560_196+7589dupATATATATATATATATATATATATATAT AT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816734	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0024	1	118	0.0085	30	c.167 others(51): Show c.167-138049_167-138048insTATTTTATTTTATTTTATTTTATT TTATTT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60819755	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	118	0.0085	30	c.167 others(51): Show c.167-141070_167-141069insCGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61007732	T T	TTATATAA others(23): Show TTATATAACATTAGGCTAATGTTATATATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0004 a0001c0001t0045g0004	1	118	0.0085	30	c.166 others(51): Show c.166+221320_166+221321insTAATATATAACATTAGCCTAATGT TATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18906.hp1 HG02165.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0009 a0001c0001t0020	a0001c0001t0009g0079 a0001c0001t0020g0040 a0001c0001t0009g0079 a0001c0001t0020g0040	2	118	0.0170	30	c.166 others(51): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(23): Show TATATATATATATACACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	400	0.0025	30	c.-40 others(41): Show c.-4031_-4030insATATATATATATACACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(23): Show TATATATATATATATACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	400	0.0025	30	c.-40 others(41): Show c.-4031_-4030insATATATATATATATACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0070 a0001c0001t0001g0077	2	456	0.0044	30	c.-27 others(41): Show c.-2792_-2791insACACACACACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPEL1_chr10_103240887_103253016	103251236	C C	CCACCACC others(23): Show CCACCACCACCACCATCACCATCTCCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	375	0.0027	30	c.45 others(41): Show c.4553_*4554insCACCACCACCACCATCACCATCTCCACCAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3221		chr10	TogoVar
RPGRIP1_chr14_21275083_21356301	21297879	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	332	0.0030	30	c.218 others(47): Show c.218+3071_218+3072insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPH3AL_chr17_207389_357807	244010	C C	CTTCCTCT others(23): Show CTTCCTCTATTGATTACCTTCCTCTATTACT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	133	0.0075	30	c.613 others(47): Show c.613+3071_613+3100dupAGTAATAGAGGAAGGTAATCAATAGAGG AA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	287767	A A	ACCCTCTC others(23): Show ACCCTCTCTCTCCACCGTCAGACCTCACTCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	133	0.0075	30	c.352 others(47): Show c.352-5914_352-5913insGGAGTGAGGTCTGACGGTGGAGAGAGAG GG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288139	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	30	c.352 others(47): Show c.352-6286_352-6285insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288271	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCACTCCCT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18999.hp2 NA19005.hp1 NA18947.hp1 NA18999.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0024 a0001c0001t0025 a0001c0001t0014 a0001c0001t0024 a0001c0001t0025	a0001c0001t0014g0023 a0001c0001t0024g0083 a0001c0001t0025g0076 a0001c0001t0014g0023 a0001c0001t0024g0083 a0001c0001t0025g0076	3	133	0.0226	30	c.352 others(47): Show c.352-6418_352-6417insAGGGAGTGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288785	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02976.hp1 HG03017.hp2 others(2): Show HG01361.hp1 HG02976.hp1 HG03017.hp2 NA18947.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0025 a0001c0002t0001	a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0014g0025 others(2): Show a0001c0001t0001g0124 a0001c0001t0005g0017 a0001c0001t0014g0025 a0001c0001t0025g0076 a0001c0002t0001g0002	5	133	0.0376	30	c.352 others(47): Show c.352-6932_352-6931insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	288811	C C	CCTCTCTC others(23): Show CCTCTCTCTCCACCGTCAGACCTCGCACCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	133	0.0075	30	c.352 others(47): Show c.352-6958_352-6957insAGGGTGCGAGGTCTGACGGTGGAGAGAG AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	295358	G G	GCAGAGGG others(23): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp1 HG01496.hp2 others(28): Show HG00544.hp2 HG01243.hp1 HG01496.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02895.hp1 HG03516.hp2 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18947.hp2 NA18951.hp1 NA18959.hp2 NA18963.hp2 NA18983.hp1 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19043.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0015 a0003c0012 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0021 a0001c0001t0033 a0001c0001t0034 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001 a0001c0003t0018 a0001c0003t0028 a0001c0004t0001 a0001c0008t0001 a0001c0015t0007 a0003c0012t0005 a0005c0010t0003	a0001c0001t0001g0024 a0001c0001t0002g0049 a0001c0001t0002g0052 others(28): Show a0001c0001t0001g0024 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0034 a0001c0001t0003g0051 a0001c0001t0003g0081 a0001c0001t0006g0105 a0001c0001t0007g0097 a0001c0001t0008g0042 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0012g0053 a0001c0001t0014g0106 a0001c0001t0021g0077 a0001c0001t0033g0063 a0001c0001t0034g0018 a0001c0002t0001g0057 a0001c0002t0006g0060 a0001c0003t0001g0075 a0001c0003t0018g0019 a0001c0003t0028g0088 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0062 a0001c0004t0001g0078 a0001c0008t0001g0044 a0001c0015t0007g0026 a0003c0012t0005g0020 a0005c0010t0003g0085	31	133	0.2331	30	c.352 others(49): Show c.352-13534_352-13505dupTCCCTCCCACACTGATGTGCATTCCC TCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	295577	G G	GCAGAGGG others(23): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0022 a0001c0006t0004g0022	1	133	0.0075	30	c.352 others(49): Show c.352-13753_352-13724dupTCCCTCCCACACTGATGTGCATTCCC TCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314396	A A	AAGTCTCT others(23): Show AAGTCTCTGTGCCCCACCTCCACTGACATGC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18999.hp2 HG02165.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0106 a0001c0001t0014g0023 a0001c0001t0014g0106	2	133	0.0150	30	c.351 others(47): Show c.351+5023_351+5024insGCATGTCAGTGGAGGTGGGGCACAGAGA CT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314422	C C	CATGCAGT others(23): Show CATGCAGTCTCTGTGCTCCACCTCCACTGAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02622.hp2 others(4): Show HG02055.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG03540.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0011 others(1): Show a0001c0001 a0001c0003 a0003c0011 a0003c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0003t0018 a0003c0011t0001 a0003c0012t0005	a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 others(4): Show a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 a0001c0001t0017g0099 a0001c0003t0018g0019 a0003c0011t0001g0016 a0003c0012t0005g0020	7	133	0.0526	30	c.351 others(47): Show c.351+4997_351+4998insATCAGTGGAGGTGGAGCACAGAGACTGC AT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	314804	T T	TCCACCTC others(23): Show TCCACCTCCATTGACCTGTAGTCCCTGTGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02572.hp2 others(2): Show HG01243.hp1 HG01884.hp2 HG02572.hp2 HG02622.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0003t0001	a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0084 others(2): Show a0001c0001t0001g0119 a0001c0001t0002g0069 a0001c0001t0003g0084 a0001c0001t0031g0067 a0001c0003t0001g0075	5	133	0.0376	30	c.351 others(47): Show c.351+4615_351+4616insGGCACAGGGACTACAGGTCAATGGAGGT GG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791860	G G	GAAGGGAG others(23): Show GAAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0082 a0001c0001t0047g0082	1	266	0.0038	30	c.-29 others(39): Show c.-292_-291insAAGGGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36458		chr12	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01123.hp1 others(15): Show HG00323.hp1 HG00738.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01884.hp1 HG02717.hp1 HG02965.hp1 HG03139.hp2 HG03195.hp2 HG03669.hp1 HG06807.hp1 NA18939.hp2 NA19043.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005	a0001c0001t0010 a0001c0001t0033 a0001c0001t0128 others(12): Show a0001c0001t0010 a0001c0001t0033 a0001c0001t0128 a0001c0001t0129 a0001c0001t0131 a0001c0001t0134 a0001c0001t0203 a0001c0002t0010 a0001c0002t0031 a0001c0002t0032 a0001c0002t0130 a0001c0002t0132 a0001c0003t0127 a0002c0004t0133 a0003c0005t0010	a0001c0001t0010g0102 a0001c0001t0033g0064 a0001c0001t0033g0190 others(15): Show a0001c0001t0010g0102 a0001c0001t0033g0064 a0001c0001t0033g0190 a0001c0001t0128g0046 a0001c0001t0129g0009 a0001c0001t0131g0077 a0001c0001t0134g0053 a0001c0001t0203g0197 a0001c0002t0010g0111 a0001c0002t0031g0056 a0001c0002t0031g0178 a0001c0002t0032g0167 a0001c0002t0032g0187 a0001c0002t0130g0074 a0001c0002t0132g0179 a0001c0003t0127g0212 a0002c0004t0133g0255 a0003c0005t0010g0200	18	266	0.0677	30	c.-27 others(39): Show c.-276_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	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(23): Show ATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATATATATTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATATTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATATTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	276	0.0036	30	c.-17 others(41): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp2 HG03225.hp2 others(1): Show HG02258.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0016 a0001c0001t0001g0041	4	338	0.0118	30	c.20 others(41): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89565283	G G	GTGGGCTG others(23): Show GTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03491.hp2 HG03492.hp1 HG01884.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0012 a0001c0002t0002g0002 a0001c0002t0002g0012	3	386	0.0078	30	c.22 others(41): Show c.2241_*2242insTGGGCTGGGCTGGGCTGGGCTGGGCTGGGC	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		742		chr16	TogoVar
RPL18_chr19_48610331_48624178	48616643	C C	CCAGCACA others(23): Show CCAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19011.hp2 NA19074.hp2 NA18972.hp1 NA19011.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	382	0.0079	30	c.297 others(43): Show c.297+53_297+82dupTGCTGTGCTGTGCTGTGCTGTGCTGTGCTG	RPL18	ENSG00000063177.13	transcript	ENST00000549920.6	protein_coding	4/6			chr19	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	418	0.0024	30	c.50 others(41): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	444	0.0023	30	c.192 others(47): Show c.192+1012_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	30	c.26 others(41): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037386	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	448	0.0022	30	c.44 others(41): Show c.4414_*4415insTATATATATATATATACACACACACACACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4334		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02129.hp1 HG02818.hp2 others(6): Show HG01109.hp2 HG02129.hp1 HG02818.hp2 NA18612.hp2 NA18948.hp2 NA18962.hp2 NA18973.hp1 NA18983.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0004g0020 a0001c0001t0001g0002 a0001c0001t0004g0020	9	448	0.0201	30	c.44 others(41): Show c.4408_*4409insTATATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	448	0.0022	30	c.44 others(41): Show c.4408_*4409insTATATATATATATATATATATATATATACA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98050406	C C	CAGGCTAT others(23): Show CAGGCTATACCATATAGCCTAGGTGTGTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	448	0.0022	30	c.-49 others(41): Show c.-4932_-4931insACTACACACCTAGGCTATATGGTATAGCCT	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4862		chr8	TogoVar
RPL5_chr1_92827040_92846924	92846860	T T	TATACACG others(23): Show TATACACGTATATATATATACATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	331	0.0030	30	c.49 others(41): Show c.4995_*4996insATACACGTATATATATATACATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4937		chr1	TogoVar
RPN1_chr3_128614969_128655818	128635640	G G	GATATATA others(23): Show GATATATATATATATATATATATATATAGAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	388	0.0026	30	c.633 others(47): Show c.633+2158_633+2159insATCTATATATATATATATATATATATAT AT	RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding	3/9			chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36008571	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0309 a0001c0002t0001g0309	1	318	0.0031	30	c.790 others(49): Show c.790-15272_790-15271insTATATATATATATATATATATATATA TATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(23): Show GTGTGTATATGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	318	0.0031	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATACACACATATA CACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18997.hp1 NA18971.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0235 a0001c0001t0001g0157 a0001c0001t0001g0235	2	318	0.0063	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATATATATATACA CACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0142 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0142	3	318	0.0094	30	c.790 others(49): Show c.790-15278_790-15277insTATATATATATATATATATATACACA CACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD2_chr1_150359147_150481566	150388375	C C	CGTATATA others(23): Show CGTATATACACGTATACACATGTATATACGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01109.hp2 others(14): Show HG00735.hp2 HG00738.hp2 HG01109.hp2 HG01243.hp2 HG01358.hp1 HG01515.hp2 HG02015.hp2 HG02559.hp1 HG02683.hp1 HG02738.hp1 HG03491.hp1 NA18973.hp1 NA18982.hp1 NA18992.hp2 NA18994.hp2 NA19079.hp2 NA19091.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0004c0006t0002 a0004c0006t0043 a0004c0006t0048	a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0284 others(14): Show a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0294 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0016g0282 a0001c0001t0016g0283 a0001c0001t0016g0288 a0001c0001t0016g0290 a0004c0006t0002g0274 a0004c0006t0002g0280 a0004c0006t0002g0281 a0004c0006t0002g0291 a0004c0006t0043g0278 a0004c0006t0048g0272	17	318	0.0535	30	c.205 others(49): Show c.205+23456_205+23457insGTATATACACGTATACACATGTATAT ACGT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10			chr1	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	390	0.0026	30	c.-10 others(41): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03139.hp1 HG03225.hp2 others(1): Show HG02258.hp1 HG03139.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	4	352	0.0114	30	c.-26 others(41): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS11_chr19_49491434_49504708	49503062	G G	GTCCAAGG others(23): Show GTCCAAGGTCACACACAGCTAGGGAGCTACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	30	c.34 others(41): Show c.3427_*3428insTCCAAGGTCACACACAGCTAGGGAGCTACA	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		3355		chr19	TogoVar
RPS6KA1_chr1_26524761_26580025	26557777	T T	TCCTCCCC others(23): Show TCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	330	0.0030	30	c.108 others(47): Show c.1084+681_1084+710dupCCCCTCCCCTCCCCTCCCCTCCCCTCCC CT	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA1_chr1_26524761_26580025	26565543	T T	TTTTTCTT others(23): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02886.hp1 others(3): Show HG02486.hp2 HG02647.hp1 HG02886.hp1 HG02976.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 others(3): Show a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0009g0032	6	330	0.0182	30	c.159 others(49): Show c.1590+3909_1590+3910insCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	244	0.0041	30	c.907 others(47): Show c.907+8324_907+8353dupTATATATATATATATATATATATATATA TA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar

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