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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Select column to sort.

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	27	c.13 others(38): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAA		RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding					1224		chr19	TogoVar
RBM43_chr2_151242940_151266863	151246306	A A	AGATTAAA others(20): Show AGATTAAATATTAAATATTTAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	420	0.0024	27	c.45 others(38): Show c.4599_*4600insATTTTATTAAATATTTAATATTTAATC		RBM43	ENSG00000184898.7	transcript	ENST00000331426.6	protein_coding					1633		chr2	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01952.hp1 HG01981.hp1 others(10): Show HG01261.hp1 HG01952.hp1 HG01981.hp1 HG02071.hp1 HG02148.hp1 HG02602.hp1 HG02965.hp1 HG02970.hp2 NA18970.hp2 NA18994.hp1 NA19000.hp2 NA19068.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0019 others(1): Show a0001c0001 a0001c0003 a0001c0019 a0002c0005	a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 others(10): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0023 a0001c0001t0026 a0001c0001t0044 a0001c0001t0050 a0001c0001t0126 a0001c0001t0137 a0001c0001t0142 a0001c0003t0018 a0001c0003t0043 a0001c0019t0079 a0002c0005t0043	a0001c0001t0009g0240 a0001c0001t0016g0167 a0001c0001t0023g0180 others(10): Show a0001c0001t0009g0240 a0001c0001t0016g0167 a0001c0001t0023g0180 a0001c0001t0026g0151 a0001c0001t0044g0193 a0001c0001t0050g0234 a0001c0001t0126g0241 a0001c0001t0137g0260 a0001c0001t0142g0276 a0001c0003t0018g0058 a0001c0003t0043g0125 a0001c0019t0079g0083 a0002c0005t0043g0055	13	278	0.0468	27	c.-23 others(48): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTT		RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6						chr4	TogoVar
RBMS1_chr2_160267151_160498807	160471716	T T	TATATATA others(20): Show TATATATATTATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	328	0.0031	27	c.75+ others(44): Show c.75+21572_75+21573insTTATATATATATATATATAATATATAT		RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13						chr2	TogoVar
RBMS3_chr3_29276071_30015386	29384429	T T	TAAGAAGA others(20): Show TAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03225.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0080 a0001c0001t0003 a0001c0001t0080	a0001c0001t0003g0089 a0001c0001t0080g0033 a0001c0001t0003g0089 a0001c0001t0080g0033	2	116	0.0172	27	c.76- others(44): Show c.76-50312_76-50311insGAAGAAGAAGAAGAAGAAGAAGAAGAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29384435	T T	TAATAATA others(20): Show TAATAATAATAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0098 a0001c0001t0066g0098	1	116	0.0086	27	c.76- others(44): Show c.76-50306_76-50305insTAATAATAAGAAGAAGAAGAAGAAGAA		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29444788	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01993.hp1 others(3): Show HG00140.hp1 HG00280.hp1 HG01993.hp1 HG02622.hp1 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 others(3): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0027 a0001c0001t0043 a0001c0001t0067	a0001c0001t0006g0053 a0001c0001t0007g0081 a0001c0001t0016g0076 others(3): Show a0001c0001t0006g0053 a0001c0001t0007g0081 a0001c0001t0016g0076 a0001c0001t0027g0090 a0001c0001t0043g0101 a0001c0001t0067g0106	6	116	0.0517	27	c.248 others(44): Show c.248+9897_248+9898insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29578790	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0048 a0001c0001t0036g0048	1	116	0.0086	27	c.308 others(44): Show c.308-8302_308-8301insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29648263	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0023 a0001c0001t0058g0023	1	116	0.0086	27	c.399 others(46): Show c.399+61080_399+61081insTTTTTTTTTTTTTTTTTTTTTTTTTT T		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29691947	C C	CTCTCTCT others(20): Show CTCTCTCTCTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	116	0.0086	27	c.400 others(46): Show c.400-47772_400-47771insCTCTCTCTATTTTTTTTTTTTTTTTT T		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0103 a0001c0001t0037g0103	1	116	0.0086	27	c.940 others(44): Show c.940-5974_940-5973insCTTTCTTTTTTTTTTTTTTTTTTTTTT		RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCCA others(20): Show AGAGGCCACTCGCCCAACGCCCACAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp1 HG02145.hp1	a0049 a0049	a0049c0037 a0049c0037	a0049c0037t0001 a0049c0037t0001	a0049c0037t0001g0000 a0049c0037t0001g0000	1	314	0.0032	27	c.118 others(36): Show c.1183_1184insACTCGCCCAACGCCCACAGCGGAGGCC	p.Gly others(40): Show p.Gly394_Arg395insHisSerProAsnAlaHisSerGlyGly	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1216/3459	1184/3204	395/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCCG others(20): Show AGAGGCCGCTCGCCCAACGCCCACAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(39): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0047 a0048 a0050 a0051 a0052	a0001c0001 a0001c0006 a0001c0008 others(57): Show a0001c0001 a0001c0006 a0001c0008 a0001c0036 a0001c0043 a0001c0044 a0001c0053 a0001c0057 a0001c0059 a0001c0065 a0001c0068 a0002c0002 a0003c0003 a0003c0038 a0003c0039 a0004c0004 a0004c0023 a0004c0055 a0006c0007 a0007c0009 a0009c0014 a0009c0040 a0010c0012 a0011c0017 a0011c0033 a0012c0015 a0013c0016 a0013c0032 a0014c0027 a0016c0022 a0018c0025 a0019c0035 a0019c0054 a0020c0024 a0021c0020 a0022c0019 a0023c0018 a0024c0028 a0025c0029 a0026c0034 a0027c0070 a0028c0041 a0029c0042 a0034c0064 a0035c0063 a0036c0061 a0037c0062 a0038c0050 a0039c0051 a0040c0072 a0041c0056 a0042c0058 a0043c0060 a0044c0052 a0046c0045 a0047c0069 a0048c0071 a0050c0031 a0051c0030 a0052c0074	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(57): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0036t0001 a0001c0043t0001 a0001c0044t0001 a0001c0053t0001 a0001c0057t0001 a0001c0059t0001 a0001c0065t0001 a0001c0068t0001 a0002c0002t0001 a0003c0003t0001 a0003c0038t0001 a0003c0039t0001 a0004c0004t0001 a0004c0023t0001 a0004c0055t0001 a0006c0007t0001 a0007c0009t0001 a0009c0014t0001 a0009c0040t0001 a0010c0012t0001 a0011c0017t0001 a0011c0033t0001 a0012c0015t0001 a0013c0016t0001 a0013c0032t0001 a0014c0027t0001 a0016c0022t0001 a0018c0025t0001 a0019c0035t0001 a0019c0054t0001 a0020c0024t0001 a0021c0020t0001 a0022c0019t0001 a0023c0018t0001 a0024c0028t0001 a0025c0029t0001 a0026c0034t0001 a0027c0070t0001 a0028c0041t0001 a0029c0042t0001 a0034c0064t0001 a0035c0063t0001 a0036c0061t0001 a0037c0062t0001 a0038c0050t0001 a0039c0051t0001 a0040c0072t0001 a0041c0056t0001 a0042c0058t0001 a0043c0060t0001 a0044c0052t0001 a0046c0045t0001 a0047c0069t0001 a0048c0071t0001 a0050c0031t0001 a0051c0030t0001 a0052c0074t0001	a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0008t0001g0000 others(57): Show a0001c0001t0001g0000 a0001c0006t0001g0000 a0001c0008t0001g0000 a0001c0036t0001g0000 a0001c0043t0001g0000 a0001c0044t0001g0000 a0001c0053t0001g0000 a0001c0057t0001g0000 a0001c0059t0001g0000 a0001c0065t0001g0000 a0001c0068t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 a0003c0038t0001g0000 a0003c0039t0001g0000 a0004c0004t0001g0000 a0004c0023t0001g0000 a0004c0055t0001g0000 a0006c0007t0001g0000 a0007c0009t0001g0000 a0009c0014t0001g0000 a0009c0040t0001g0000 a0010c0012t0001g0000 a0011c0017t0001g0000 a0011c0033t0001g0000 a0012c0015t0001g0000 a0013c0016t0001g0000 a0013c0032t0001g0000 a0014c0027t0001g0000 a0016c0022t0001g0000 a0018c0025t0001g0000 a0019c0035t0001g0000 a0019c0054t0001g0000 a0020c0024t0001g0000 a0021c0020t0001g0000 a0022c0019t0001g0000 a0023c0018t0001g0000 a0024c0028t0001g0000 a0025c0029t0001g0000 a0026c0034t0001g0000 a0027c0070t0001g0000 a0028c0041t0001g0000 a0029c0042t0001g0000 a0034c0064t0001g0000 a0035c0063t0001g0000 a0036c0061t0001g0000 a0037c0062t0001g0000 a0038c0050t0001g0000 a0039c0051t0001g0000 a0040c0072t0001g0000 a0041c0056t0001g0000 a0042c0058t0001g0000 a0043c0060t0001g0000 a0044c0052t0001g0000 a0046c0045t0001g0000 a0047c0069t0001g0000 a0048c0071t0001g0000 a0050c0031t0001g0000 a0051c0030t0001g0000 a0052c0074t0001g0000	279	314	0.8885	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGCGGAGGCCGCTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCCG others(20): Show AGAGGCCGCTCGCCCAACGCCCACAGTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0001 a0001c0073t0001	a0001c0073t0001g0000 a0001c0073t0001g0000	1	314	0.0032	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGTGGAGGCCGCTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGCTG others(20): Show AGAGGCTGCTCGCCCAACGCCCACAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0000 a0015c0021t0001g0000	2	314	0.0064	27	c.118 others(36): Show c.1182_1183insTGCTCGCCCAACGCCCACAGCGGAGGC	p.Gly others(40): Show p.Gly394_Arg395insCysSerProAsnAlaHisSerGlyGly	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1215/3459	1183/3204	395/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190618	A A	AGAGGTCG others(20): Show AGAGGTCGCTCGCCCAACGCCCACAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18954.hp1 NA18968.hp1 NA19056.hp1 NA18954.hp1 NA18968.hp1 NA19056.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0000 a0003c0013t0001g0000	3	314	0.0096	27	c.118 others(36): Show c.1181_1182insTCGCTCGCCCAACGCCCACAGCGGAGG	p.Gly others(40): Show p.Gly394_Arg395insArgSerProAsnAlaHisSerGlyGly	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1214/3459	1182/3204	394/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190625	G G	GCTCGCCC others(20): Show GCTCGCCCAACGCCCACAGCGGAGGCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02109.hp2	a0032 a0032	a0032c0046 a0032c0046	a0032c0046t0001 a0032c0046t0001	a0032c0046t0001g0000 a0032c0046t0001g0000	1	314	0.0032	27	c.119 others(36): Show c.1191_1192insAACGCCCACAGCGGAGGCCACTCGCCC	p.Pro others(40): Show p.Pro397_Asp398insAsnAlaHisSerGlyGlyHisSerPro	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1224/3459	1192/3204	398/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBMXL3_chrX_115184410_115197868	115190644	C C	CGGAGGCC others(20): Show CGGAGGCCGCTCGCCCGACACCCACAGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG02572.hp1 HG02615.hp1 others(3): Show HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02886.hp2 HG03098.hp1 HG03540.hp1	a0008 a0045 a0008 a0045	a0008c0010 a0008c0048 a0045c0049 a0008c0010 a0008c0048 a0045c0049	a0008c0010t0001 a0008c0048t0001 a0045c0049t0001 a0008c0010t0001 a0008c0048t0001 a0045c0049t0001	a0008c0010t0001g0000 a0008c0048t0001g0000 a0045c0049t0001g0000 a0008c0010t0001g0000 a0008c0048t0001g0000 a0045c0049t0001g0000	6	314	0.0191	27	c.120 others(36): Show c.1205_1206insAGGCCGCTCGCCCGACACCCACAGTGG	p.Gly others(40): Show p.Gly402_Gly403insGlyArgSerProAspThrHisSerGly	RBMXL3	ENSG00000175718.10	transcript	ENST00000424776.5	protein_coding	1/1	1238/3459	1206/3204	402/1067		INFO_REALIGN_3_PRIME	chrX	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02071.hp2 HG02074.hp2 others(11): Show HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02145.hp2 HG02523.hp2 HG03098.hp1 HG03139.hp2 NA18939.hp1 NA18961.hp1 NA18968.hp2 NA18978.hp2 NA18995.hp1 NA19007.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0051 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0094 a0001c0002t0006g0001	14	446	0.0314	27	c.-11 others(38): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding					1034		chr20	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG02523.hp1 others(2): Show HG00140.hp2 HG00408.hp2 HG02523.hp1 NA18959.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0051 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0051 a0001c0001t0129	a0001c0001t0003g0057 a0001c0001t0014g0041 a0001c0001t0014g0052 others(2): Show a0001c0001t0003g0057 a0001c0001t0014g0041 a0001c0001t0014g0052 a0001c0001t0051g0006 a0001c0001t0129g0063	5	310	0.0161	27	c.88 others(38): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAAAAAAAAAA		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding					1252		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	294	0.0034	27	c.52 others(38): Show c.5232_*5233insAAAAAATATATATATATATATATATAT		RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding					4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01517.hp2 HG01255.hp1 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0201 a0001c0002t0002g0156 a0001c0002t0002g0201	2	390	0.0051	27	c.286 others(44): Show c.286-2161_286-2160insATATATATATATATATATATATATTTT		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAA others(20): Show ATAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	390	0.0026	27	c.286 others(44): Show c.286-2161_286-2160insATATATATATATATATATTTTTTTTTA		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(20): Show ATAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18940.hp1 NA18950.hp2 others(5): Show HG02165.hp1 NA18940.hp1 NA18950.hp2 NA18959.hp1 NA18965.hp1 NA18969.hp1 NA19066.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0249 a0001c0001t0003g0250 others(5): Show a0001c0001t0003g0223 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292	8	390	0.0205	27	c.286 others(44): Show c.286-2161_286-2160insATATATATATATATATATATATTTTTA		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAATAT others(20): Show ATAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	390	0.0026	27	c.286 others(44): Show c.286-2161_286-2160insATATATATATATATATATATATATTTA		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487732	A A	AATATATA others(20): Show AATATATATTCATATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02129.hp2 HG02165.hp1 HG01123.hp2 HG02129.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0039 a0001c0001t0011g0213 a0001c0001t0002g0039 a0001c0001t0011g0213	3	406	0.0074	27	c.657 others(44): Show c.657+2822_657+2848dupATTATGAATATATATATGAATATATAT		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487867	A A	AATATATA others(20): Show AATATATATTCATAATATATATATTCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG02071.hp2 others(9): Show HG00408.hp1 HG00673.hp2 HG02071.hp2 HG02630.hp1 HG03130.hp2 HG04184.hp1 NA18950.hp1 NA18966.hp1 NA18984.hp1 NA18991.hp2 NA18995.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0272 a0001c0001t0002g0230 a0001c0001t0003g0015 others(8): Show a0001c0001t0001g0272 a0001c0001t0002g0230 a0001c0001t0003g0015 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0070 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0101 a0001c0001t0003g0103 a0001c0001t0003g0123	12	406	0.0296	27	c.657 others(44): Show c.657+2687_657+2713dupATGAATATATATATTATGAATATATAT		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8						chr4	TogoVar
RCOR1_chr14_102587649_102735561	102623387	A A	ATTAATTA others(20): Show ATTAATTATTTATTTATTTATTTATTAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	292	0.0034	27	c.361 others(46): Show c.361+30065_361+30066insATTATTTATTTATTTATTTATTATTT A		RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0315 a0001c0001t0012g0315	1	350	0.0029	27	c.-30 others(38): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding					2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01978.hp1 NA19005.hp1 HG01099.hp1 HG01978.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0043g0015 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0043g0015	3	350	0.0086	27	c.6+2 others(38): Show c.6+298_6+324dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH10_chr8_73289602_73330281	73315190	C C	CCCCCACC others(20): Show CCCCCACCGGCCTCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01243.hp2 HG01261.hp1 others(8): Show HG00733.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01975.hp1 HG02572.hp1 HG03239.hp1 NA18940.hp2 NA18970.hp1 NA18973.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0046 others(2): Show a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0046 a0001c0001t0006g0047 a0001c0001t0006g0169	11	396	0.0278	27	c.526 others(44): Show c.526-3901_526-3875dupACCGGCCTCCTCTCTCTCTCTCTCCCC		RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr8	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01928.hp2 others(3): Show HG00408.hp1 HG00609.hp1 HG01928.hp2 HG02148.hp2 NA18991.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0241 others(3): Show a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0003g0110 a0001c0001t0003g0225 a0001c0001t0003g0247	6	376	0.0160	27	c.-65 others(44): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13						chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	188	0.0053	27	c.160 others(46): Show c.160-10925_160-10924insAAAAAAAAAAAAAAAAAAAAAAAAAA A		REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19082.hp1 HG02056.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0059 a0001c0002t0001g0007 a0001c0002t0001g0059	2	392	0.0051	27	c.440 others(44): Show c.440-1213_440-1212insCTCTCTCTCTCTCTCTCTCTCTCTCTC		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20						chr9	TogoVar
REEP6_chr19_1486181_1502927	1493722	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	318	0.0031	27	c.116 others(44): Show c.116-1562_116-1561insACACACACACACACACAACACACACAC		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAGAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG02486.hp1 HG03098.hp1 others(1): Show HG01169.hp2 HG02486.hp1 HG03098.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 others(1): Show a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0037	4	318	0.0126	27	c.34 others(38): Show c.3485_*3486insAAAAAAAAAAAAAAAAGAAAAAAAAAA		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2770		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAGAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	318	0.0031	27	c.34 others(38): Show c.3485_*3486insAAAAAAAAAAAAAAAGAAAAAAAAAAA		REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding					2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02486.hp2 HG03041.hp1 others(1): Show HG00733.hp2 HG02486.hp2 HG03041.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0317 a0001c0001t0001g0318 others(1): Show a0001c0001t0001g0273 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0362	4	382	0.0105	27	c.505 others(44): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAAAA		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103977310	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	184	0.0054	27	c.226 others(46): Show c.226+11794_226+11820dupTTTTTTTTTTTTTTTTTTTTTTTTTT T		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	166	0.0060	27	c.151 others(48): Show c.1517-10518_1517-10517insTATATATATATATATATATATATA TAT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17						chrX	TogoVar
RER1_chr1_2386841_2410436	2401253	T T	TCCTCCCT others(20): Show TCCTCCCTCCTCCTCCTCCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	354	0.0028	27	c.365 others(42): Show c.365+330_365+331insTCCTCCCTCCTCCTCCCTCCCTCCTCC		RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03831.hp2 HG02698.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0067 a0001c0001t0006g0170 a0001c0001t0001g0067 a0001c0001t0006g0170	2	204	0.0098	27	c.831 others(44): Show c.831-3366_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAAA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	204	0.0049	27	c.831 others(44): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(20): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0132 a0001c0002t0005g0132	1	204	0.0049	27	c.831 others(44): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTTC		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	204	0.0049	27	c.523 others(44): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02155.hp2 NA18983.hp1 HG01517.hp2 HG02155.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0030 a0001c0001t0037 a0001c0007t0003 a0001c0001t0030 a0001c0001t0037 a0001c0007t0003	a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0007t0003g0084 a0001c0001t0030g0143 a0001c0001t0037g0196 a0001c0007t0003g0084	3	204	0.0147	27	c.-14 others(48): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT TTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp1 NA19074.hp2 others(1): Show HG00741.hp2 HG01433.hp1 NA19074.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0003 a0001c0004 a0002c0006 others(1): Show a0001c0003 a0001c0004 a0002c0006 a0008c0017	a0001c0003t0008 a0001c0004t0003 a0002c0006t0003 others(1): Show a0001c0003t0008 a0001c0004t0003 a0002c0006t0003 a0008c0017t0003	a0001c0003t0008g0105 a0001c0004t0003g0092 a0002c0006t0003g0094 others(1): Show a0001c0003t0008g0105 a0001c0004t0003g0092 a0002c0006t0003g0094 a0008c0017t0003g0101	4	204	0.0196	27	c.-14 others(48): Show c.-145+27858_-145+27859insATATATATATTTTTTTTTTTTTTT TTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG02132.hp1 others(1): Show HG00280.hp2 HG00609.hp1 HG02132.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0022 a0002c0006 a0001c0001 a0001c0022 a0002c0006	a0001c0001t0003 a0001c0022t0008 a0002c0006t0003 others(1): Show a0001c0001t0003 a0001c0022t0008 a0002c0006t0003 a0002c0006t0024	a0001c0001t0003g0104 a0001c0022t0008g0082 a0002c0006t0003g0089 others(1): Show a0001c0001t0003g0104 a0001c0022t0008g0082 a0002c0006t0003g0089 a0002c0006t0024g0081	4	204	0.0196	27	c.-14 others(48): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	204	0.0049	27	c.-14 others(48): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTTT TTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0020 a0001c0016t0020	a0001c0016t0020g0001 a0001c0016t0020g0001	1	204	0.0049	27	c.-14 others(48): Show c.-145+27858_-145+27859insATATATATATATATATATTTTTTT TTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar

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