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
RPH3AL_chr17_207389_357807	295248	G G	GGCAGAGG others(24): Show GGCAGAGGGAATGCACATCAGTGTGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	133	0.0075	31	c.352 others(50): Show c.352-13395_352-13394insTCCCTCCCACACTGATGTGCATTCCC TCTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315041	T T	TGCCCCAC others(24): Show TGCCCCACCTCCATTGACCTGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp2 HG03516.hp2 HG02976.hp2 HG03453.hp2 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0014 a0001c0002 a0007c0014	a0001c0002t0006 a0001c0002t0029 a0007c0014t0018 a0001c0002t0006 a0001c0002t0029 a0007c0014t0018	a0001c0002t0006g0060 a0001c0002t0029g0103 a0007c0014t0018g0102 a0001c0002t0006g0060 a0001c0002t0029g0103 a0007c0014t0018g0102	3	133	0.0226	31	c.351 others(48): Show c.351+4378_351+4379insCACAGGGACTACAGGTCAATGGAGGTGG GGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315504	T T	TCCACCTC others(24): Show TCCACCTCCAGTGACCTGTAGTCCCTGTGCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0029 a0001c0002t0006 a0001c0002t0029	a0001c0002t0006g0060 a0001c0002t0029g0103 a0001c0002t0006g0060 a0001c0002t0029g0103	2	133	0.0150	31	c.351 others(48): Show c.351+3915_351+3916insGAGCACAGGGACTACAGGTCACTGGAGG TGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	315524	G G	GTCCCTGT others(24): Show GTCCCTGTCACCCCACCTCCATTGACCTGTAA	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	31	c.351 others(48): Show c.351+3895_351+3896insTTACAGGTCAATGGAGGTGGGGTGACAG GGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02622.hp1 NA18974.hp1 HG02451.hp1 HG02622.hp1 NA18974.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0007 a0001c0002 a0004c0007	a0001c0002t0060 a0001c0002t0061 a0004c0007t0059 a0001c0002t0060 a0001c0002t0061 a0004c0007t0059	a0001c0002t0060g0099 a0001c0002t0061g0092 a0004c0007t0059g0079 a0001c0002t0060g0099 a0001c0002t0061g0092 a0004c0007t0059g0079	3	266	0.0113	31	c.-28 others(40): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	276	0.0036	31	c.-17 others(42): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	276	0.0036	31	c.-17 others(42): Show c.-1706_-1705insTATATATATATATTTTTTTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13A_chr19_49482608_49497308	49493834	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	338	0.0030	31	c.20 others(42): Show c.2019_*2020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL13A	ENSG00000142541.18	transcript	ENST00000391857.9	protein_coding		1527		chr19	TogoVar
RPL13_chr16_89555682_89569542	89565621	G G	GGCCGTGC others(24): Show GGCCGTGCCGAGTGTGGGCCGTGCCCGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0004 a0001c0002t0021g0004	1	386	0.0026	31	c.25 others(42): Show c.2579_*2580insGCCGTGCCGAGTGTGGGCCGTGCCCGAGTGT	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1080		chr16	TogoVar
RPL21_chr13_27246558_27261568	27248784	T T	TTAATGAG others(24): Show TTAATGAGATTTCACACATACAGAACCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	31	c.-28 others(42): Show c.-2814_-2813insTAATGAGATTTCACACATACAGAACCCCCAC	RPL21	ENSG00000122026.11	transcript	ENST00000311549.11	protein_coding		2773		chr13	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	444	0.0023	31	c.192 others(48): Show c.192+1011_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	31	c.26 others(42): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPRD2_chr1_150359147_150481566	150388375	C C	CGTATATA others(24): Show CGTATATACACGTATTACACATGTATATACGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0273 a0004c0006t0002g0273	1	318	0.0031	31	c.205 others(50): Show c.205+23456_205+23457insGTATATACACGTATTACACATGTATA TACGT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10			chr1	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	352	0.0028	31	c.-26 others(42): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS17_chr15_82531750_82545457	82535899	T T	TAGCTGGA others(24): Show TAGCTGGACTACACATGCACATCACCATGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	455	0.0022	31	c.90 others(40): Show c.901_*902insGGGCATGGTGATGTGCATGTGTAGTCCAGCT	RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding		850		chr15	TogoVar
RPS23_chr5_82268320_82283354	82283226	A A	AACCGGGC others(24): Show AACCGGGCCAAGCGCGCCGCTTCCGGATCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	31	c.-49 others(42): Show c.-4904_-4903insCAGGATCCGGAAGCGGCGCGCTTGGCCCGGT	RPS23	ENSG00000186468.13	transcript	ENST00000296674.13	protein_coding		4873		chr5	TogoVar
RPS6KA1_chr1_26524761_26580025	26562825	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0276	1	330	0.0030	31	c.159 others(50): Show c.1590+1189_1590+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0115 a0001c0007t0001g0115	1	244	0.0041	31	c.907 others(48): Show c.907+8355_907+8356insTATATATATATATATATATATATATATA TAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(24): Show TTATATATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	244	0.0041	31	c.907 others(48): Show c.907+8353_907+8354insTATATATATATATATATTATATATATAT ATA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84151096	G G	GATAGATA others(24): Show GATAGATATATATAGATATATATAGGATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 HG00642.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0103 a0001c0001t0102 a0001c0001t0103	a0001c0001t0102g0246 a0001c0001t0103g0235 a0001c0001t0102g0246 a0001c0001t0103g0235	2	272	0.0074	31	c.259 others(48): Show c.259-3004_259-2974dupATATATCCTATATATATCTATATATATC TAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG00741.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0077 a0001c0001t0001g0084	2	330	0.0061	31	c.472 others(46): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(24): Show ATCCATCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG02300.hp2 HG01070.hp1 HG01168.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0029 a0002c0002t0028 a0002c0002t0029	a0002c0002t0028g0069 a0002c0002t0028g0070 a0002c0002t0029g0073 a0002c0002t0028g0069 a0002c0002t0028g0070 a0002c0002t0029g0073	3	366	0.0082	31	c.-15 others(42): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0306 a0001c0001t0038g0343 a0001c0001t0001g0306 a0001c0001t0038g0343	2	366	0.0055	31	c.-15 others(42): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	366	0.0027	31	c.-15 others(42): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02683.hp2 HG01109.hp1 HG02683.hp2	a0001 a0001	a0001c0010 a0001c0073 a0001c0010 a0001c0073	a0001c0010t0032 a0001c0073t0002 a0001c0010t0032 a0001c0073t0002	a0001c0010t0032g0059 a0001c0073t0002g0070 a0001c0010t0032g0059 a0001c0073t0002g0070	2	196	0.0102	31	c.349 others(50): Show c.349-22213_349-22212insATATATATATATATATATATATATAT TTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(24): Show ATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	196	0.0051	31	c.349 others(50): Show c.349-22213_349-22212insATATATATATTTTTTTTTTTTTTTTT TTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103275	T T	TATATTAT others(24): Show TATATTATATGTTAATTAACATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02083.hp2 others(20): Show HG01243.hp1 HG01943.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG04199.hp1 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18987.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19066.hp1 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0010 a0013 a0030 a0039	a0001c0001 a0002c0007 a0003c0002 others(9): Show a0001c0001 a0002c0007 a0003c0002 a0005c0003 a0006c0005 a0006c0016 a0007c0009 a0007c0011 a0010c0035 a0013c0058 a0030c0047 a0039c0070	a0001c0001t0001 a0002c0007t0007 a0002c0007t0028 others(16): Show a0001c0001t0001 a0002c0007t0007 a0002c0007t0028 a0002c0007t0069 a0003c0002t0002 a0003c0002t0010 a0005c0003t0012 a0005c0003t0018 a0005c0003t0046 a0006c0005t0004 a0006c0016t0009 a0007c0009t0005 a0007c0011t0014 a0007c0011t0052 a0007c0011t0061 a0010c0035t0065 a0013c0058t0001 a0030c0047t0027 a0039c0070t0009	a0001c0001t0001g0111 a0002c0007t0007g0116 a0002c0007t0028g0121 others(20): Show a0001c0001t0001g0111 a0002c0007t0007g0116 a0002c0007t0028g0121 a0002c0007t0069g0022 a0003c0002t0002g0102 a0003c0002t0010g0067 a0005c0003t0012g0260 a0005c0003t0018g0001 a0005c0003t0046g0258 a0006c0005t0004g0086 a0006c0005t0004g0104 a0006c0016t0009g0092 a0007c0009t0005g0247 a0007c0011t0014g0199 a0007c0011t0014g0200 a0007c0011t0014g0201 a0007c0011t0014g0202 a0007c0011t0052g0213 a0007c0011t0061g0198 a0010c0035t0065g0208 a0013c0058t0001g0134 a0030c0047t0027g0209 a0039c0070t0009g0016	23	292	0.0788	31	c.-50 others(42): Show c.-5070_-5069insATATTATATGTTAATTAACATATAATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4685		chr6	TogoVar
RREB1_chr6_7102961_7256980	7103337	A A	AATATTAT others(24): Show AATATTATATGTTAATTAACATATAATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0041 a0041	a0041c0072 a0041c0072	a0041c0072t0078 a0041c0072t0078	a0041c0072t0078g0242 a0041c0072t0078g0242	1	292	0.0034	31	c.-50 others(42): Show c.-5008_-5007insATATTATATGTTAATTAACATATAATATTAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4623		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0094 a0001c0003t0002g0094	1	368	0.0027	31	c.176 others(48): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	386	0.0026	31	c.685 others(48): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RRN3_chr16_15055033_15099272	15065614	C C	CTTATATT others(24): Show CTTATATTTTAATGAGTAATAGATATTATTCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19002.hp2 NA18971.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	2	407	0.0049	31	c.155 others(48): Show c.1554-274_1554-244dupTGAATAATATCTATTACTCATTAAAATA TAA	RRN3	ENSG00000085721.13	transcript	ENST00000198767.11	protein_coding	15/17			chr16	TogoVar
RRP12_chr10_97351701_97406340	97398039	A A	ATATATAT others(24): Show ATATATATATATATGTATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0160 a0001c0005t0001g0160	1	400	0.0025	31	c.370 others(48): Show c.370-1739_370-1738insATACATATATATATATACATATATATAT ATA	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RSBN1L_chr7_77691459_77788022	77725243	A A	AATTTTTT others(24): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG02257.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0207 a0001c0001t0005g0198 a0001c0001t0005g0207	2	336	0.0060	31	c.587 others(50): Show c.587-11167_587-11166insATTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7			chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03710.hp2 NA18954.hp1 others(2): Show HG03492.hp1 HG03710.hp2 NA18954.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0169 a0001c0001t0003g0173 others(2): Show a0001c0001t0003g0036 a0001c0001t0003g0169 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0217	5	336	0.0149	31	c.587 others(50): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSL24D1_chr15_55175806_55201941	55183112	G G	GAATTCAA others(24): Show GAATTCAATGAAGGCAAAAAAGAAACACCATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0093 a0001c0002t0004g0093	1	326	0.0031	31	c.418 others(46): Show c.418+172_418+202dupTATGGTGTTTCTTTTTTGCCTTCATTGAAT T	RSL24D1	ENSG00000137876.11	transcript	ENST00000260443.9	protein_coding	5/5			chr15	TogoVar
RSPH14_chr22_23054415_23146990	23130529	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	314	0.0032	31	c.421 others(48): Show c.421+3496_421+3497insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO4_chr20_953452_1007311	979584	G G	GAGCACGC others(24): Show GAGCACGCAGACATTTCTCCCCAAGATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0293 a0001c0001t0041g0293	1	376	0.0027	31	c.80- others(48): Show c.80-11447_80-11446insTATATATCTTGGGGAGAAATGTCTGCGT GCT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0013	a0003c0005t0013g0043 a0003c0005t0013g0043	1	276	0.0036	31	c.653 others(50): Show c.653-18943_653-18942insATATATATATATATATTTTTTTTTTT TTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0275 a0001c0001t0013g0275	1	276	0.0036	31	c.52 others(42): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA18982.hp2 HG03486.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0182 a0001c0001t0013g0019 a0001c0001t0007g0182 a0001c0001t0013g0019	2	276	0.0073	31	c.52 others(42): Show c.5253_*5254insAAAAAAAAAAAAAAAAAATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAATAAA others(24): Show TAAATAAAATAAAATAAAACAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG02280.hp2 HG02630.hp1 HG02965.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 a0001c0002t0002 a0001c0003t0003 a0002c0001t0001	a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0003t0003g0013 others(1): Show a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0003t0003g0013 a0002c0001t0001g0020	4	134	0.0299	31	c.-44 others(52): Show c.-444-79388_-444-79387insATAAAATAAAATAAAACAAAATAA AATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL9_chrX_110353848_110461334	110378008	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0007 a0005c0007t0005g0007	1	165	0.0061	31	c.-16 others(52): Show c.-168+19116_-168+19117insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RTL9	ENSG00000243978.9	transcript	ENST00000520821.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03130.hp1 HG01433.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0037 a0002c0002t0006g0144 a0002c0002t0001g0037 a0002c0002t0006g0144	2	170	0.0118	31	c.142 others(48): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4IP1_chr6_106565771_106634498	106566462	G G	GGTCTTTT others(24): Show GGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0068 a0001c0001t0015g0068	1	396	0.0025	31	c.55 others(42): Show c.5533_*5534insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding		4308		chr6	TogoVar
RUFY2_chr10_68338408_68412277	68411950	C C	CCAGCTGA others(24): Show CCAGCTGAGTGCAGATGGCGTTTACTCTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	276	0.0036	31	c.-47 others(42): Show c.-4762_-4761insCAGAAGAGTAAACGCCATCTGCACTCAGCTG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4674		chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87626450	T T	TATGTGTC others(24): Show TATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0133 a0001c0001t0007g0133	1	202	0.0050	31	c.-23 others(42): Show c.-2374_-2373insATGTGTCATATATGTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1947		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626587	T T	TATATATG others(24): Show TATATATGTCATATATGTGTCATATATATGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0169 a0001c0001t0077g0169	1	202	0.0050	31	c.-22 others(42): Show c.-2237_-2236insATATATGTCATATATGTGTCATATATATGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1810		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	170	0.0059	31	c.59- others(48): Show c.59-74387_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC1_chr1_155315894_155336114	155327933	C C	CTTGTGAT others(24): Show CTTGTGATTTGTGGTGTTGTGGACTTTTGTTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	318	0.0031	31	c.241 others(48): Show c.2415-215_2415-185dupTGTGATTTGTGGTGTTGTGGACTTTTGT TGT	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18978.hp2 HG00609.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0310 a0001c0001t0001g0297 a0001c0001t0001g0310	2	480	0.0042	31	c.535 others(48): Show c.535-1978_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar

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