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
RAB6A_chr11_73670638_73766074	73739282	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	354	0.0028	37	c.71- others(52): Show c.71-8460_71-8459insATATATATATATATATATATATATATATAT ATATATA	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6A_chr11_73670638_73766074	73739284	A A	AAAAAAAT others(30): Show AAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	354	0.0028	37	c.71- others(52): Show c.71-8462_71-8461insATATATATATATATATATATATATATATAT ATTTTTT	RAB6A	ENSG00000175582.20	transcript	ENST00000336083.8	protein_coding	1/7			chr11	TogoVar
RAB6B_chr3_133819235_133900882	133889388	T T	TTTATATA others(30): Show TTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0215 a0001c0001t0083g0215	1	386	0.0026	37	c.70+ others(52): Show c.70+6008_70+6009insTATATATATATATATATATATATATATATA TATATAA	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7			chr3	TogoVar
RAB7A_chr3_128721183_128819798	128795751	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19065.hp1 NA19084.hp1 NA18975.hp2 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0261 a0001c0001t0001g0150 a0001c0001t0001g0167 a0001c0001t0001g0261	3	314	0.0096	37	c.53+ others(50): Show c.53+348_53+349insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RABGAP1L_chr1_174154520_175000308	174833466	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp1 HG02735.hp1 others(2): Show HG02015.hp2 HG02132.hp1 HG02735.hp1 NA18962.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0042 a0001c0001t0009g0036	5	272	0.0184	37	c.234 others(58): Show c.2340+21508_2340+21509insTATATATATATATATATATATATA TATATATATATTA	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAD51B_chr14_67814779_68483093	68272665	A A	ATATATAT others(30): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	84	0.0119	37	c.757 others(56): Show c.757-19218_757-19217insATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(30): Show ATATATATATATATATATATACATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 NA18906.hp1 HG02818.hp1 NA18906.hp1	a0003 a0032 a0003 a0032	a0003c0007 a0032c0040 a0003c0007 a0032c0040	a0003c0007t0037 a0032c0040t0008 a0003c0007t0037 a0032c0040t0008	a0003c0007t0037g0140 a0032c0040t0008g0106 a0003c0007t0037g0140 a0032c0040t0008g0106	2	292	0.0069	37	c.-27 others(48): Show c.-2770_-2769insAAATATATATATATATGTATATATATATATATAT ATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(30): Show ATATATATATATATATATATACATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG01261.hp1 HG01516.hp2 HG01517.hp2 HG02615.hp2 HG03130.hp1 HG06807.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0003c0026 others(1): Show a0001c0001 a0002c0002 a0003c0026 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0003c0026t0021 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0026t0021 a0009c0012t0006	a0001c0001t0001g0236 a0002c0002t0001g0234 a0002c0002t0001g0235 others(3): Show a0001c0001t0001g0236 a0002c0002t0001g0234 a0002c0002t0001g0235 a0003c0026t0021g0122 a0003c0026t0021g0123 a0009c0012t0006g0032	6	292	0.0206	37	c.-27 others(48): Show c.-2770_-2769insAAAAATATATATATATGTATATATATATATATAT ATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(30): Show TATATATATATACACACATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01106.hp1 others(14): Show HG00639.hp2 HG00741.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01978.hp2 HG02080.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02735.hp2 HG02738.hp2 HG03669.hp2 HG03942.hp1 HG03942.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0003c0005 a0003c0050 a0005c0003 a0011c0022	a0001c0001t0001 a0001c0006t0002 a0002c0002t0031 others(5): Show a0001c0001t0001 a0001c0006t0002 a0002c0002t0031 a0003c0005t0060 a0003c0050t0010 a0005c0003t0002 a0005c0003t0034 a0011c0022t0053	a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0006t0002g0034 others(14): Show a0001c0001t0001g0251 a0001c0001t0001g0287 a0001c0006t0002g0034 a0002c0002t0031g0147 a0003c0005t0060g0160 a0003c0050t0010g0127 a0005c0003t0002g0020 a0005c0003t0002g0031 a0005c0003t0002g0033 a0005c0003t0002g0036 a0005c0003t0002g0037 a0005c0003t0002g0038 a0005c0003t0002g0039 a0005c0003t0002g0041 a0005c0003t0002g0067 a0005c0003t0034g0068 a0011c0022t0053g0159	17	292	0.0582	37	c.-27 others(48): Show c.-2771_-2770insTATATATATATATATATATATGTGTGTATATATA TAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TATATATA others(30): Show TATATATATATATATACACATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19240.hp2 NA19030.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0022 a0003c0007t0010 a0001c0001t0022 a0003c0007t0010	a0001c0001t0022g0011 a0003c0007t0010g0013 a0001c0001t0022g0011 a0003c0007t0010g0013	2	292	0.0069	37	c.-27 others(48): Show c.-2771_-2770insTATATATATATATATATATGTGTATATATATATA TAT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RALGPS1_chr9_126909782_127228166	127188832	T T	TTAAAAAA others(30): Show TTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03927.hp1 NA19000.hp2 HG02886.hp2 HG03927.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0248 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0248	3	276	0.0109	37	c.911 others(54): Show c.911-6259_911-6258insTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18			chr9	TogoVar
RALYL_chr8_84178274_84926844	84478918	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	82	0.0122	37	c.-23 others(56): Show c.-23-50381_-23-50380insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	1/8			chr8	TogoVar
RAP1GDS1_chr4_98256384_98448858	98388964	A A	AAAAATAT others(30): Show AAAAATATTTTCCCAAAAAAATTGCTGCAAAGAATAGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02258.hp2 HG02280.hp1 others(9): Show HG01167.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02717.hp1 HG02976.hp1 HG03225.hp1 HG03486.hp1 HG03710.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0007 others(9): Show a0001c0001t0006g0004 a0001c0001t0006g0005 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0009 a0001c0001t0006g0010 a0001c0001t0006g0174 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0013 a0001c0001t0009g0014 a0001c0001t0009g0015	12	242	0.0496	37	c.509 others(54): Show c.509-2986_509-2950dupAAATATTTTCCCAAAAAAATTGCTGCAA AGAATAGCA	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
RAP2C_chrX_132198025_132224447	132208624	T T	TTAATAAT others(30): Show TTAATAATTTTAATAAAACATTAAAATTATTATTTTAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0127 a0001c0001t0011g0127	1	235	0.0043	37	c.35 others(54): Show c.35-3074_*35-3038dupTTAAAATAATAATTTTAATGTTTTATTA AAATTATTA	RAP2C	ENSG00000123728.10	transcript	ENST00000370874.2	protein_coding	5/5			chrX	TogoVar
RAPGEF6_chr5_131418921_131640229	131418933	A A	ATATATAT others(30): Show ATATATATTTTATATATAAATAAAAAATATATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01943.hp1 HG01952.hp1 others(3): Show HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02145.hp1 NA18981.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0262 others(3): Show a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0262 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0010t0001g0283	6	324	0.0185	37	c.83 others(48): Show c.8332_*8333insAATAAAATATATTTTTTATTTATATATAAAATAT ATA	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding		4987		chr5	TogoVar
RARB_chr3_25423263_25602932	25482521	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	290	0.0035	37	c.307 others(56): Show c.307-18625_307-18624insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RARB	ENSG00000077092.20	transcript	ENST00000330688.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
RARS1_chr5_168481471_168524301	168518071	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19065.hp1 HG00639.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0357 a0001c0001t0001g0352 a0001c0001t0001g0357	2	394	0.0051	37	c.187 others(52): Show c.1873+33_1873+34insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114044393	C C	CTCACTCG others(30): Show CTCACTCGCTGAGCCCCCCCCCCGCCTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	67	0.0149	37	c.278 others(54): Show c.278-3300_278-3299insCTCAGCGAGTGAGGCGGGGGGGGGGCTC AGCGAGTGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099906	C C	CCCCACAG others(30): Show CCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCAG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0021	1	67	0.0149	37	c.56- others(54): Show c.56-26070_56-26069insCTGCTGTGGGGGGGCTGCTGTGGGGGGC TGCTGTGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114114938	C C	CCCCCAGC others(30): Show CCCCCAGCCCCACCCCCAGCTGTGAGATGCTGCAGGTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG00639.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	67	0.0299	37	c.55+ others(54): Show c.55+17460_55+17496dupAACCTGCAGCATCTCACAGCTGGGGGTG GGGCTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114136634	C C	CAACGGAA others(30): Show CAACGGAATAATTTTTGGAGGGTTCAAAGTAAGAACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	67	0.0149	37	c.-41 others(48): Show c.-4146_-4145insCAGTTCTTACTTTGAACCCTCCAAAAATTATTCC GTT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding		4012		chr13	TogoVar
RASGEF1B_chr4_81421393_81476907	81466770	A A	AGAAAGAA others(30): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	316	0.0032	37	c.-7+ others(52): Show c.-7+4999_-7+5000insCTTTCTTTCTTTCCTTCCTTCTTTCTTTCT TTCTTTC	RASGEF1B	ENSG00000138670.19	transcript	ENST00000264400.7	protein_coding	1/13			chr4	TogoVar
RASGRF1_chr15_78954906_79095780	79092471	C C	CCACACAC others(30): Show CCACACACACATACACGACACACACACCACACATACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp1 others(9): Show HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0002t0007 a0001c0004t0001 a0001c0019t0001	a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0045 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0311 a0001c0001t0003g0032 a0001c0001t0007g0047 a0001c0002t0007g0046 a0001c0004t0001g0033 a0001c0019t0001g0313	12	314	0.0382	37	c.-19 others(48): Show c.-1974_-1973insTGGTATGTGTGGTGTGTGTGTCGTGTATGTGTGT GTG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding		1692		chr15	TogoVar
RASSF1_chr3_50324788_50345836	50331549	G G	GGGGAGGA others(30): Show GGGGAGGACGGGGCTCGGGAGGCCTGGTAGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	390	0.0026	37	c.760 others(49): Show c.760+9_760+10insACCCCCCCCTACCAGGCCTCCCGAGCCCCGTCC TCCC	RASSF1	ENSG00000068028.18	transcript	ENST00000359365.9	protein_coding	4/5			chr3	TogoVar
RASSF5_chr1_206502531_206594448	206523634	A A	ATTATATA others(30): Show ATTATATATAATATATTTATATAAAATATATAAAATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0178 a0001c0001t0010g0178	1	346	0.0029	37	c.458 others(56): Show c.458-14537_458-14501dupTTATATATAATATATTTATATAAAAT ATATAAAATAT	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RASSF5_chr1_206502531_206594448	206523649	T T	TTTATATA others(30): Show TTTATATAAAATATATAAAATATATTATATATAATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02056.hp1 NA18986.hp2 others(2): Show HG00438.hp1 HG02056.hp1 NA18986.hp2 NA19004.hp1 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0001 a0003c0006t0005 a0001c0001t0002 a0003c0006t0001 a0003c0006t0005	a0001c0001t0002g0112 a0003c0006t0001g0113 a0003c0006t0001g0115 others(2): Show a0001c0001t0002g0112 a0003c0006t0001g0113 a0003c0006t0001g0115 a0003c0006t0001g0123 a0003c0006t0005g0114	5	346	0.0145	37	c.458 others(56): Show c.458-14490_458-14489insTATATTATATAAAATATATAAAATAT ATTATATATAA	RASSF5	ENSG00000266094.8	transcript	ENST00000579436.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAVER2_chr1_64740075_64838232	64824932	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0224 a0002c0002t0011g0224	1	364	0.0028	37	c.193 others(56): Show c.1930-5880_1930-5879insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	RAVER2	ENSG00000162437.15	transcript	ENST00000294428.8	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(30): Show ATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	306	0.0033	37	c.-35 others(48): Show c.-3577_-3576insTATATATATATATATATATTTTTTTTTTTTTTTT TTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RB1_chr13_48298751_48486890	48300336	A A	ATATATAT others(30): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02165.hp2 NA19065.hp1 HG01261.hp2 HG02165.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0144 a0001c0001t0001g0164 a0001c0001t0001g0041 a0001c0001t0001g0144 a0001c0001t0001g0164	3	306	0.0098	37	c.-35 others(48): Show c.-3577_-3576insTATATATATATATATTTTTTTTTTTTTTTTTTTT TTT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding		3414		chr13	TogoVar
RBBP6_chr16_24534566_24577863	24575785	A A	AGGAGGGG others(30): Show AGGAGGGGAGAGGGAGAGGAGAGGGAGGAGAGGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	336	0.0030	37	c.33 others(48): Show c.3340_*3341insGGAGGGGAGAGGGAGAGGAGAGGGAGGAGAGGAG AGG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2923		chr16	TogoVar
RBBP9_chr20_18481540_18502225	18501661	T T	TTTCTAAA others(30): Show TTTCTAAAGGGATCACCCACCCTCCACTGAGGCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01358.hp2 HG01934.hp1 others(3): Show HG00621.hp1 HG01358.hp2 HG01934.hp1 HG03927.hp2 NA18992.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0022 a0001c0001t0001 a0001c0001t0015 a0001c0001t0022	a0001c0001t0001g0002 a0001c0001t0015g0056 a0001c0001t0015g0141 others(1): Show a0001c0001t0001g0002 a0001c0001t0015g0056 a0001c0001t0015g0141 a0001c0001t0022g0057	6	454	0.0132	37	c.-44 others(48): Show c.-4495_-4494insGGAGGGCCTCAGTGGAGGGTGGGTGATCCCTTTA GAA	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		4437		chr20	TogoVar
RBBP9_chr20_18481540_18502225	18501750	C C	CCCACCCT others(30): Show CCCACCCTCCACTGAGGCCCTCCTTCTAAAGGGATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA19077.hp2 HG03471.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0027 a0001c0001t0006 a0001c0001t0027	a0001c0001t0006g0006 a0001c0001t0027g0132 a0001c0001t0006g0006 a0001c0001t0027g0132	2	454	0.0044	37	c.-45 others(48): Show c.-4584_-4583insAAGATCCCTTTAGAAGGAGGGCCTCAGTGGAGGG TGG	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		4526		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6637139	A A	ATATATAA others(30): Show ATATATAATATACAATATATATTATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	68	0.0147	37	c.-63 others(56): Show c.-63-17434_-63-17433insAATATATTATATAATATACAATATAT ATTATATATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637139	A A	ATATATAA others(30): Show ATATATAATATACAATATATATTATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	68	0.0147	37	c.-63 others(56): Show c.-63-17375_-63-17339dupTATATATTATATATTATATATATTAT ATAATATACAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6637207	T T	AATATATT others(30): Show AATATATTATATAATATACAATATATATTGTATATTAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0021 a0001c0001t0041g0021	1	68	0.0147	37	c.-63 others(56): Show c.-63-17397_-63-17396insAATATATTATATAATATACAATATAT ATTGTATATTA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6927414	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0055	1	68	0.0147	37	c.-15 others(58): Show c.-15-124618_-15-124617insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7022030	T T	TCCCCCTC others(30): Show TCCCCCTCCCCTTCCCCCTCCCCTTCCCCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03209.hp1 HG03579.hp2 others(1): Show HG02630.hp1 HG03209.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0029	a0001c0001t0001g0020 a0001c0001t0003g0050 a0001c0001t0007g0039 others(1): Show a0001c0001t0001g0020 a0001c0001t0003g0050 a0001c0001t0007g0039 a0001c0001t0029g0001	4	68	0.0588	37	c.-15 others(56): Show c.-15-30023_-15-30022insCTCCCCTTCCCCCTCCCCTTCCCCCT CCCCTTCCCCC	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79138954	C C	CCACACAC others(30): Show CCACACACGCACACAGCACATGCGTTCACACCCCCTCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02976.hp2 others(1): Show HG02055.hp1 HG02630.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0026	a0001c0001t0002g0093 a0001c0001t0004g0100 a0001c0001t0005g0109 others(1): Show a0001c0001t0002g0093 a0001c0001t0004g0100 a0001c0001t0005g0109 a0001c0001t0026g0106	4	154	0.0260	37	c.-33 others(56): Show c.-33-23207_-33-23206insTGAGGGGGTGTGAACGCATGTGCTGT GTGCGTGTGTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79138954	C C	CCACACAT others(30): Show CCACACATGCACACAGCACATGCGTTCACACCCCCTCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02451.hp2 others(3): Show HG02055.hp2 HG02109.hp2 HG02451.hp2 HG02717.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0036 a0001c0001t0002g0120 a0001c0001t0002g0124 others(3): Show a0001c0001t0001g0036 a0001c0001t0002g0120 a0001c0001t0002g0124 a0001c0001t0005g0144 a0001c0001t0006g0112 a0001c0001t0008g0113	6	154	0.0390	37	c.-33 others(56): Show c.-33-23243_-33-23207dupTGAGGGGGTGTGAACGCATGTGCTGT GTGCATGTGTG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	4/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79319907	A A	ATGTCTGG others(30): Show ATGTCTGGGCTGCTGGTCTATGTCTGGGCTGTTGGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00741.hp1 others(26): Show HG00423.hp2 HG00438.hp2 HG00741.hp1 HG01175.hp1 HG01346.hp1 HG01346.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp2 HG02004.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG03017.hp1 HG03239.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 NA18747.hp1 NA18952.hp1 NA18970.hp1 NA18971.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(26): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0146 a0001c0001t0003g0002 a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0043 a0001c0001t0003g0085 a0001c0001t0015g0018 a0001c0001t0018g0049 a0001c0001t0024g0149 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0079 a0001c0002t0003g0073 a0001c0002t0003g0076 a0001c0002t0011g0034	29	154	0.1883	37	c.-17 others(58): Show c.-174-12084_-174-12083insGGACCAACAGCCCAGACATAGACC AGCAGCCCAGACA	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	2/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79588923	A A	ACTTGGAC others(30): Show ACTTGGACCTGGGCCATATAGTGAGACCCCATCCTGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	154	0.0065	37	c.-32 others(58): Show c.-320+21866_-320+21902dupCTCAGGATGGGGTCTCACTATATG GCCCAGGTCCAAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(30): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00639.hp2 HG00642.hp1 others(4): Show HG00438.hp2 HG00639.hp2 HG00642.hp1 HG01346.hp1 HG01993.hp2 HG03492.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0003g0014 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0078 a0001c0001t0003g0014 a0001c0001t0018g0049 a0001c0001t0021g0026 a0001c0002t0001g0037 a0001c0002t0003g0076	7	154	0.0455	37	c.-62 others(46): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA G	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RBL2_chr16_53429471_53496648	53457258	C C	CCTTTTTT others(30): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0137 a0001c0003t0003g0137	1	276	0.0036	37	c.118 others(56): Show c.1180-2193_1180-2192insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RBL2	ENSG00000103479.17	transcript	ENST00000262133.11	protein_coding	8/21			chr16	TogoVar
RBM23_chr14_22888204_22924149	22910151	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	362	0.0028	37	c.67- others(50): Show c.67-557_67-556insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RBM23	ENSG00000100461.18	transcript	ENST00000359890.8	protein_coding	2/13			chr14	TogoVar
RBM33_chr7_155639661_155786480	155673940	G G	GTTGTTGT others(30): Show GTTGTTGTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0294 a0002c0001t0054g0294	1	306	0.0033	37	c.171 others(54): Show c.171+1027_171+1028insGTTGTTTGTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	37	c.13 others(48): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0102 a0001c0001t0007g0102	1	278	0.0036	37	c.112 others(54): Show c.1124-443_1124-442insATATATATATATATATATATATTTTTTT TTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(30): Show AAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp2 HG01255.hp1 HG01071.hp2 HG01099.hp2 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0039 a0001c0001t0116 a0001c0001t0029 a0001c0001t0039 a0001c0001t0116	a0001c0001t0029g0252 a0001c0001t0039g0051 a0001c0001t0116g0270 a0001c0001t0029g0252 a0001c0001t0039g0051 a0001c0001t0116g0270	3	278	0.0108	37	c.112 others(54): Show c.1124-443_1124-442insATATATATATATATATATATATATTTTT TTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(30): Show AAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03579.hp1 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0009 a0001c0004 a0002c0009	a0001c0004t0029 a0002c0009t0008 a0001c0004t0029 a0002c0009t0008	a0001c0004t0029g0223 a0002c0009t0008g0077 a0001c0004t0029g0223 a0002c0009t0008g0077	2	278	0.0072	37	c.-23 others(58): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS1_chr2_160267151_160498807	160493788	C C	CTTGGTGC others(30): Show CTTGGTGCCAGGCGGCATCTGGGGTGGCGGCGCGTGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0003 a0001c0001t0018g0003	1	328	0.0031	37	c.-42 others(46): Show c.-426_-425insCGCACGCGCCGCCACCCCAGATGCCGCCTGGCACCA A	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/14	426		chr2	TogoVar

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Search Results (Total: 3614 hits)