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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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
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19059.hp2 HG03654.hp1 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0102 a0001c0001t0001g0082 a0001c0001t0001g0102	2	444	0.0045	23	c.192 others(40): Show c.192+1019_192+1041dupTTTTTTTTTTTTTTTTTTTTTTT		RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5						chr3	TogoVar
RPL26L1_chr5_172954424_172974771	172964281	C C	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	386	0.0026	23	c.169 others(40): Show c.169-4178_169-4177insCTTTTTTTTTTTTTTTTTTTTTT		RPL26L1	ENSG00000037241.7	transcript	ENST00000265100.6	protein_coding	2/3						chr5	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01175.hp1 HG00609.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0010 a0001c0001t0001g0033	2	422	0.0047	23	c.26 others(34): Show c.2604_*2626dupTTTTTTTTTTTTTTTTTTTTTTT		RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding					2578		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037419	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	448	0.0022	23	c.43 others(34): Show c.4381_*4382insTATATATATATATATATATATAT		RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding					4301		chr8	TogoVar
RPL36_chr19_5685295_5696875	5694638	C C	CGGGCGCG others(16): Show CGGGCGCGGGGGTGGTGGGGTGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	23	c.30 others(34): Show c.3017_*3018insGGGCGCGGGGGTGGTGGGGTGAT		RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding					2764		chr19	TogoVar
RPL36_chr19_5685295_5696875	5696635	C C	CGGGTCAG others(16): Show CGGGTCAGGGTTGCCTGGGGCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02027.hp2 others(6): Show HG01243.hp2 HG01346.hp1 HG02027.hp2 HG03688.hp1 NA18943.hp1 NA18946.hp2 NA18999.hp1 NA19003.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0001g0001 a0001c0001t0006g0001	9	394	0.0228	23	c.50 others(34): Show c.5014_*5015insGGGTCAGGGTTGCCTGGGGCTCT		RPL36	ENSG00000130255.13	transcript	ENST00000347512.8	protein_coding					4761		chr19	TogoVar
RPL38_chr17_74198678_74215655	74213498	G G	GGCGGGGC others(16): Show GGCGGGGCCGGGGGCGGGGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02615.hp1 HG02647.hp2 others(2): Show HG01884.hp2 HG02615.hp1 HG02647.hp2 HG03139.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0079 a0001c0001t0005g0084 a0001c0001t0005g0025 a0001c0001t0005g0079 a0001c0001t0005g0084	5	446	0.0112	23	c.36 others(34): Show c.3669_*3670insGCGGGGCCGGGGGCGGGGCGGGC		RPL38	ENSG00000172809.13	transcript	ENST00000311111.11	protein_coding					2844		chr17	TogoVar
RPL39L_chr3_187115948_187144496	187134483	T T	TAAAAAAA others(16): Show TAAAAAAAAGAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02622.hp1 HG02055.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0078 a0001c0001t0001g0096	2	400	0.0050	23	c.-93 others(40): Show c.-93+4729_-93+4730insTTTTTTTTTTTTTTCTTTTTTTT		RPL39L	ENSG00000163923.10	transcript	ENST00000296277.9	protein_coding	1/2						chr3	TogoVar
RPRD1A_chr18_35984824_36072559	36002026	G G	GCTTCTTT others(16): Show GCTTCTTTCAAGGTTTTTACTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(119): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18988.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0013 a0001c0003t0008 a0001c0003t0009 a0001c0004t0002 a0001c0005t0009	a0001c0001t0001g0098 a0001c0001t0002g0002 a0001c0001t0002g0010 others(117): Show a0001c0001t0001g0098 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0003g0083 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0272 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0285 a0001c0001t0006g0286 a0001c0001t0007g0037 a0001c0001t0007g0050 a0001c0001t0007g0057 a0001c0001t0007g0058 a0001c0001t0011g0019 a0001c0001t0011g0032 a0001c0001t0011g0051 a0001c0001t0015g0085 a0001c0001t0017g0271 a0001c0001t0019g0065 a0001c0001t0021g0009 a0001c0001t0022g0281 a0001c0001t0023g0096 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0013g0300 a0001c0002t0013g0301 a0001c0003t0008g0005 a0001c0003t0008g0273 a0001c0003t0009g0274 a0001c0003t0009g0275 a0001c0004t0002g0311 a0001c0004t0002g0312 a0001c0005t0009g0299	122	318	0.3837	23	c.790 others(40): Show c.790-8727_790-8726insTAAAGTAAAAACCTTGAAAGAAG		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPRD2_chr1_150359147_150481566	150431473	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	318	0.0031	23	c.336 others(40): Show c.336-9448_336-9426dupTTTTTTTTTTTTTTTTTTTTTTT		RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPRML_chr17_46973156_46984253	46980666	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA18978.hp1 HG02132.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	2	452	0.0044	23	c.-16 others(34): Show c.-1660_-1659insTTTTTTTTTTTTTTTTTTTTTTT		RPRML	ENSG00000179673.5	transcript	ENST00000322329.5	protein_coding					1414		chr17	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02055.hp2 NA18906.hp2 HG01255.hp2 HG02055.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076	3	390	0.0077	23	c.-10 others(34): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTT		RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding					1010		chr6	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03516.hp1 HG04184.hp1 others(3): Show HG02970.hp2 HG03516.hp1 HG04184.hp1 NA18947.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004	6	352	0.0171	23	c.-26 others(34): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTT		RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding					2599		chr19	TogoVar
RPS27A_chr2_55227688_55240853	55236019	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	440	0.0023	23	c.44 others(32): Show c.442_*443insAAAAAAAAAAAAAAAAAAAAAAA		RPS27A	ENSG00000143947.15	transcript	ENST00000272317.11	protein_coding					167		chr2	TogoVar
RPS6KA2_chr6_166404364_166632251	166449803	G G	GGGACCAC others(16): Show GGGACCACCACGGGACAACCACGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01169.hp2 others(26): Show HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01978.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03209.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2 NA18956.hp2 NA19009.hp1 NA19077.hp2 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0009 a0001c0022 others(11): Show a0001c0005 a0001c0009 a0001c0022 a0001c0029 a0001c0038 a0001c0042 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0052 a0001c0054 a0001c0061 a0001c0062	a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 others(15): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 a0001c0005t0028 a0001c0009t0001 a0001c0022t0004 a0001c0022t0017 a0001c0029t0018 a0001c0038t0018 a0001c0042t0014 a0001c0045t0043 a0001c0046t0004 a0001c0047t0030 a0001c0048t0002 a0001c0052t0004 a0001c0054t0001 a0001c0061t0015 a0001c0062t0040	a0001c0005t0001g0101 a0001c0005t0001g0142 a0001c0005t0001g0162 others(26): Show a0001c0005t0001g0101 a0001c0005t0001g0142 a0001c0005t0001g0162 a0001c0005t0001g0170 a0001c0005t0003g0074 a0001c0005t0003g0084 a0001c0005t0003g0132 a0001c0005t0012g0014 a0001c0005t0028g0180 a0001c0009t0001g0109 a0001c0009t0001g0152 a0001c0009t0001g0161 a0001c0009t0001g0177 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0022t0004g0071 a0001c0022t0004g0237 a0001c0022t0017g0189 a0001c0029t0018g0004 a0001c0038t0018g0002 a0001c0042t0014g0043 a0001c0045t0043g0123 a0001c0046t0004g0154 a0001c0047t0030g0222 a0001c0048t0002g0098 a0001c0052t0004g0148 a0001c0054t0001g0228 a0001c0061t0015g0073 a0001c0062t0040g0144	29	244	0.1189	23	c.120 others(40): Show c.1207-955_1207-954insTCGTGGTTGTCCCGTGGTGGTCC		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	13/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG03516.hp1 NA18950.hp1 others(1): Show HG01978.hp1 HG03516.hp1 NA18950.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0015 others(1): Show a0001c0003 a0001c0009 a0001c0015 a0001c0026	a0001c0003t0001 a0001c0009t0001 a0001c0015t0023 others(1): Show a0001c0003t0001 a0001c0009t0001 a0001c0015t0023 a0001c0026t0002	a0001c0003t0001g0034 a0001c0009t0001g0109 a0001c0015t0023g0003 others(1): Show a0001c0003t0001g0034 a0001c0009t0001g0109 a0001c0015t0023g0003 a0001c0026t0002g0206	4	244	0.0164	23	c.907 others(40): Show c.907+8355_907+8356insTATATATATATATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84100393	C C	CATATTAT others(16): Show CATATTATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp2 HG02280.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0006 a0001c0001t0014g0006	2	272	0.0074	23	c.177 others(42): Show c.1776+1643_1776+1644insATATTATATATAATATATAATAT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	18/21						chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84140750	A A	AACCATAC others(16): Show AACCATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0045 a0002c0002t0045	a0002c0002t0045g0052 a0002c0002t0045g0052	1	272	0.0037	23	c.501 others(40): Show c.501+4727_501+4728insATATATATATATATATGTATGGT		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21						chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0100 a0001c0001t0017g0100	1	330	0.0030	23	c.472 others(38): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAA		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0089 a0001c0013t0089	a0001c0013t0089g0047 a0001c0013t0089g0047	1	196	0.0051	23	c.349 others(42): Show c.349-22213_349-22212insATATATATATATATATATATTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80711744	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG03486.hp1 others(1): Show HG01884.hp1 HG02970.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0020 a0001c0048 a0001c0059 others(1): Show a0001c0020 a0001c0048 a0001c0059 a0001c0072	a0001c0020t0093 a0001c0048t0073 a0001c0059t0080 others(1): Show a0001c0020t0093 a0001c0048t0073 a0001c0059t0080 a0001c0072t0006	a0001c0020t0093g0034 a0001c0048t0073g0144 a0001c0059t0080g0006 others(1): Show a0001c0020t0093g0034 a0001c0048t0073g0144 a0001c0059t0080g0006 a0001c0072t0006g0108	4	196	0.0204	23	c.507 others(40): Show c.507+3761_507+3762insTTTTTTTTTTTTTTTTTTTTTTT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80728446	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0043 a0001c0026t0043	a0001c0026t0043g0096 a0001c0026t0043g0096	1	196	0.0051	23	c.508 others(40): Show c.508-2114_508-2113insTGTGTGTGTGTGTGTGTGTGTGT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	4/33						chr17	TogoVar
RPTOR_chr17_80539838_80971368	80960146	G G	GGCTGGCC others(16): Show GGCTGGCCTCGGTGACGGCTCCAT	frameshift_variant frameshift_variant	HIGH	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0069 a0003c0069	a0003c0069t0044 a0003c0069t0044	a0003c0069t0044g0099 a0003c0069t0044g0099	1	196	0.0051	23	c.354 others(32): Show c.3547_3569dupGCTGGCCTCGGTGACGGCTCCAT	p.Ile others(6): Show p.Ile1190fs	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	30/34	4362/6838	3570/4008	1190/1335		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963375	T T	TCCCTGTG others(16): Show TCCCTGTGCGGCCCTCACCCCGTC	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18963.hp1 HG02895.hp2 NA18963.hp1	a0001 a0001	a0001c0016 a0001c0024 a0001c0016 a0001c0024	a0001c0016t0031 a0001c0024t0037 a0001c0016t0031 a0001c0024t0037	a0001c0016t0031g0011 a0001c0024t0037g0092 a0001c0016t0031g0011 a0001c0024t0037g0092	2	196	0.0102	23	c.393 others(40): Show c.3939+346_3939+368dupGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	C C	CTGCGGCC others(16): Show CTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(49): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02630.hp2 HG02717.hp2 HG03209.hp2 HG03490.hp2 HG03491.hp2 HG03540.hp2 HG03654.hp2 HG03831.hp1 HG06807.hp1 NA18747.hp2 NA18944.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19057.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19088.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0012 others(24): Show a0001c0001 a0001c0002 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0030 a0001c0042 a0001c0043 a0001c0049 a0001c0052 a0001c0061 a0001c0080 a0001c0085 a0001c0087 a0001c0091 a0001c0095 a0001c0097 a0002c0062 a0003c0069	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(42): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0008 a0001c0002t0010 a0001c0002t0015 a0001c0002t0039 a0001c0002t0040 a0001c0012t0003 a0001c0012t0018 a0001c0014t0002 a0001c0014t0034 a0001c0015t0008 a0001c0015t0046 a0001c0017t0005 a0001c0017t0015 a0001c0018t0009 a0001c0018t0016 a0001c0019t0003 a0001c0021t0065 a0001c0023t0002 a0001c0023t0008 a0001c0024t0002 a0001c0024t0003 a0001c0027t0016 a0001c0027t0096 a0001c0028t0019 a0001c0030t0003 a0001c0042t0055 a0001c0043t0008 a0001c0049t0011 a0001c0052t0003 a0001c0061t0009 a0001c0080t0011 a0001c0085t0003 a0001c0087t0002 a0001c0091t0016 a0001c0095t0003 a0001c0097t0001 a0002c0062t0018 a0003c0069t0044	a0001c0001t0002g0038 a0001c0001t0005g0044 a0001c0001t0005g0046 others(49): Show a0001c0001t0002g0038 a0001c0001t0005g0044 a0001c0001t0005g0046 a0001c0001t0009g0030 a0001c0001t0015g0085 a0001c0001t0019g0050 a0001c0001t0019g0057 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0008g0131 a0001c0002t0010g0064 a0001c0002t0015g0086 a0001c0002t0039g0088 a0001c0002t0040g0105 a0001c0012t0003g0121 a0001c0012t0003g0123 a0001c0012t0018g0194 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0002g0055 a0001c0014t0034g0072 a0001c0015t0008g0146 a0001c0015t0046g0079 a0001c0017t0005g0031 a0001c0017t0005g0067 a0001c0017t0015g0082 a0001c0018t0009g0066 a0001c0018t0016g0120 a0001c0019t0003g0135 a0001c0021t0065g0112 a0001c0023t0002g0049 a0001c0023t0008g0134 a0001c0024t0002g0048 a0001c0024t0003g0129 a0001c0027t0016g0185 a0001c0027t0096g0060 a0001c0028t0019g0024 a0001c0030t0003g0115 a0001c0042t0055g0179 a0001c0043t0008g0176 a0001c0049t0011g0078 a0001c0052t0003g0149 a0001c0061t0009g0040 a0001c0080t0011g0077 a0001c0085t0003g0162 a0001c0087t0002g0051 a0001c0091t0016g0166 a0001c0095t0003g0137 a0001c0097t0001g0157 a0002c0062t0018g0191 a0003c0069t0044g0099	52	196	0.2653	23	c.393 others(40): Show c.3939+391_3939+392insGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963472	G G	GTGCGGCC others(16): Show GTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0139 a0001c0015t0008g0139	1	196	0.0051	23	c.393 others(40): Show c.3939+437_3939+438insCTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963518	C C	CTGCGGCC others(16): Show CTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0003 a0001c0052t0003	a0001c0052t0003g0149 a0001c0052t0003g0149	1	196	0.0051	23	c.393 others(40): Show c.3939+483_3939+484insGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963541	C C	CTGCGGCC others(16): Show CTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19005.hp1 HG02602.hp2 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0054 a0001c0003t0001 a0001c0008t0054	a0001c0003t0001g0154 a0001c0008t0054g0169 a0001c0003t0001g0154 a0001c0008t0054g0169	2	196	0.0102	23	c.393 others(40): Show c.3939+530_3939+552dupGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963564	G G	GTGCGGCC others(16): Show GTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0001 a0001	a0001c0059 a0001c0067 a0001c0059 a0001c0067	a0001c0059t0080 a0001c0067t0068 a0001c0059t0080 a0001c0067t0068	a0001c0059t0080g0006 a0001c0067t0068g0110 a0001c0059t0080g0006 a0001c0067t0068g0110	2	196	0.0102	23	c.393 others(40): Show c.3939+529_3939+530insCTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963656	C C	CTGCGGCC others(16): Show CTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0074 a0001c0004t0023g0074	1	196	0.0051	23	c.394 others(40): Show c.3940-602_3940-601insGCCCTCACCCCGTCCCCTGTGCG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963661	T T	TCCCTCAC others(16): Show TCCCTCACCCCGTCCCCTGTGCGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0056 a0001c0010t0056	a0001c0010t0056g0183 a0001c0010t0056g0183	1	196	0.0051	23	c.394 others(40): Show c.3940-560_3940-538dupGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963679	G G	GTGCGGCC others(16): Show GTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	23	c.394 others(40): Show c.3940-561_3940-560insCTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963702	G G	GTGCGGCC others(16): Show GTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02451.hp1 others(6): Show HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02683.hp1 HG03654.hp1 HG03688.hp1 NA19009.hp2 NA19057.hp1 NA19088.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0013 others(4): Show a0001c0003 a0001c0005 a0001c0013 a0001c0033 a0001c0036 a0001c0058 a0004c0082	a0001c0003t0001 a0001c0003t0004 a0001c0005t0074 others(5): Show a0001c0003t0001 a0001c0003t0004 a0001c0005t0074 a0001c0013t0021 a0001c0033t0023 a0001c0036t0004 a0001c0058t0004 a0004c0082t0010	a0001c0003t0001g0182 a0001c0003t0004g0119 a0001c0005t0074g0008 others(6): Show a0001c0003t0001g0182 a0001c0003t0004g0119 a0001c0005t0074g0008 a0001c0013t0021g0093 a0001c0033t0023g0075 a0001c0036t0004g0167 a0001c0036t0004g0168 a0001c0058t0004g0156 a0004c0082t0010g0052	9	196	0.0459	23	c.394 others(40): Show c.3940-471_3940-449dupCCTCTGCGGCCCTCACCCCGTCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963725	C C	CTGCGGCC others(16): Show CTGCGGCCCTCACCCCGTCCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02165.hp2 HG02809.hp1 others(4): Show HG00544.hp1 HG02165.hp2 HG02809.hp1 HG03688.hp2 NA18747.hp2 NA18963.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0018 others(3): Show a0001c0002 a0001c0012 a0001c0018 a0001c0023 a0001c0024 a0001c0054	a0001c0002t0002 a0001c0002t0039 a0001c0012t0003 others(4): Show a0001c0002t0002 a0001c0002t0039 a0001c0012t0003 a0001c0018t0017 a0001c0023t0009 a0001c0024t0037 a0001c0054t0034	a0001c0002t0002g0027 a0001c0002t0039g0088 a0001c0012t0003g0189 others(4): Show a0001c0002t0002g0027 a0001c0002t0039g0088 a0001c0012t0003g0189 a0001c0018t0017g0140 a0001c0023t0009g0071 a0001c0024t0037g0092 a0001c0054t0034g0056	7	196	0.0357	23	c.394 others(40): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963748	C C	GTGCGGCC others(16): Show GTGCGGCCCTCACCCCGTCCCCTC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0013 a0001c0013t0013	a0001c0013t0013g0062 a0001c0013t0013g0062	1	196	0.0051	23	c.394 others(40): Show c.3940-515_3940-514insGTGCGGCCCTCACCCCGTCCCCT		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33						chr17	TogoVar
RPUSD4_chr11_126197096_126216650	126214490	G G	GTTTTGTT others(16): Show GTTTTGTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0004 a0002c0001t0003g0004	1	416	0.0024	23	c.-28 others(34): Show c.-2853_-2852insAAAAAAAAAAAAAAAAAACAAAA		RPUSD4	ENSG00000165526.9	transcript	ENST00000298317.9	protein_coding					2841		chr11	TogoVar
RRAGB_chrX_55712749_55763774	55744387	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	276	0.0036	23	c.517 others(40): Show c.517-6697_517-6696insAAAAAAAAAAAAAAAAAAAAAAA		RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
RREB1_chr6_7102961_7256980	7103380	A A	AATATATA others(16): Show AATATATATAATATATAATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0004 a0004	a0004c0052 a0004c0052	a0004c0052t0020 a0004c0052t0020	a0004c0052t0020g0005 a0004c0052t0020g0005	1	292	0.0034	23	c.-49 others(34): Show c.-4965_-4964insATATATATAATATATAATATTAT		RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding					4580		chr6	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	386	0.0026	23	c.685 others(40): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTT		RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8						chr8	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	336	0.0030	23	c.587 others(42): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77784318	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG01891.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0022 a0001c0001t0004 a0001c0001t0022	a0001c0001t0004g0003 a0001c0001t0022g0047 a0001c0001t0004g0003 a0001c0001t0022g0047	2	336	0.0060	23	c.51 others(34): Show c.5150_*5151insAAAAAAAAAAAAAAAAAAAAAAA		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding					1297		chr7	TogoVar
RSF1_chr11_77655009_77825722	77658011	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	352	0.0028	23	c.89 others(34): Show c.8905_*8906insTTTTTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding					1997		chr11	TogoVar
RSF1_chr11_77655009_77825722	77686408	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0268 a0001c0001t0008g0268	1	352	0.0028	23	c.290 others(42): Show c.2901-1250_2901-1249insTTTTTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	9/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77729895	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18977.hp2 NA19088.hp1 HG03710.hp1 NA18977.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0025 a0001c0001t0005 a0001c0001t0008 a0001c0001t0025	a0001c0001t0005g0254 a0001c0001t0008g0267 a0001c0001t0025g0259 a0001c0001t0005g0254 a0001c0001t0008g0267 a0001c0001t0025g0259	3	352	0.0085	23	c.579 others(40): Show c.579-4219_579-4197dupTTTTTTTTTTTTTTTTTTTTTTT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	4/15						chr11	TogoVar
RSF1_chr11_77655009_77825722	77796892	G G	GTGAACTC others(16): Show GTGAACTCCCATTCAAAATTGCTA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0254 a0001c0001t0005g0254	1	352	0.0028	23	c.187 others(42): Show c.187+23613_187+23635dupTAGCAATTTTGAATGGGAGTTCA		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	1/15						chr11	TogoVar
RSPH3_chr6_158967871_159005202	158984475	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0193	1	302	0.0033	23	c.347 others(38): Show c.347-669_347-668insTATATATATATATATATATATAT		RSPH3	ENSG00000130363.13	transcript	ENST00000367069.7	protein_coding	3/7						chr6	TogoVar
RSPH4A_chr6_116611479_116637985	116614666	C C	CCTTTTCT others(16): Show CCTTTTCTTTTCTTTTTTCCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02572.hp1 HG02886.hp1 others(7): Show HG02129.hp1 HG02572.hp1 HG02886.hp1 HG03017.hp2 HG03130.hp1 HG03486.hp2 HG03654.hp2 HG03831.hp1 HG03927.hp1 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0014 a0004c0016 a0004c0004 a0004c0014 a0004c0016	a0004c0004t0001 a0004c0004t0005 a0004c0014t0001 others(1): Show a0004c0004t0001 a0004c0004t0005 a0004c0014t0001 a0004c0016t0005	a0004c0004t0001g0019 a0004c0004t0001g0045 a0004c0004t0001g0049 others(4): Show a0004c0004t0001g0019 a0004c0004t0001g0045 a0004c0004t0001g0049 a0004c0004t0005g0129 a0004c0004t0005g0130 a0004c0014t0001g0019 a0004c0016t0005g0019	10	398	0.0251	23	c.-19 others(34): Show c.-1958_-1957insCTTTTCTTTTCTTTTTTCCTTTT		RSPH4A	ENSG00000111834.13	transcript	ENST00000229554.10	protein_coding					1812		chr6	TogoVar
RSRC1_chr3_158105089_158550730	158118462	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGCGCGCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0222 a0001c0001t0011g0222	1	276	0.0036	23	c.-2- others(38): Show c.-2-3640_-2-3639insTGTGTGTGTGTGTGTGCGCGCGG		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158487949	G G	GGAAAAAA others(16): Show GGAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0232 a0001c0001t0006g0232	1	276	0.0036	23	c.652 others(42): Show c.652+26946_652+26947insGAAAAAAAAAAAAAAAAAAAAAA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9						chr3	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0212 a0001c0001t0006g0212	1	276	0.0036	23	c.653 others(42): Show c.653-18943_653-18942insATATATATATATATATTTTTTTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr3	TogoVar

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