JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RTP5_chr2_241864729_241878823	241877273	A A	AAGGCTGG others(25): Show AAGGCTGGCACCGTCGCTACAACCCACCCCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	365	0.0027	32	c.39 others(43): Show c.3999_*4000insAGGCTGGCACCGTCGCTACAACCCACCCCAGC	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3451		chr2	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0138 a0002c0002t0005g0138	1	356	0.0028	32	c.925 others(47): Show c.925+191_925+192insATATATATATATATATATATATATATATAT AT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUBCNL_chr13_46329681_46392252	46388303	G G	GAGGGAGG others(25): Show GAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0030 a0008c0008t0030	a0008c0008t0030g0313 a0008c0008t0030g0313	1	356	0.0028	32	c.-14 others(43): Show c.-1409_-1408insTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding		1052		chr13	TogoVar
RUFY2_chr10_68338408_68412277	68366759	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	276	0.0036	32	c.132 others(51): Show c.1326-2647_1326-2646insTTATATATATATATATATATATATAT ATATAT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY2_chr10_68338408_68412277	68368334	A A	AAATTTCT others(25): Show AAATTTCTCAAATTATTATATTTGAGAAATATT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02145.hp1 HG02723.hp2 others(7): Show HG01433.hp2 HG02145.hp1 HG02723.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0037 a0001c0001t0008 a0001c0001t0016 a0001c0001t0037	a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 others(7): Show a0001c0001t0008g0260 a0001c0001t0008g0262 a0001c0001t0008g0263 a0001c0001t0008g0264 a0001c0001t0008g0265 a0001c0001t0008g0267 a0001c0001t0016g0259 a0001c0001t0016g0261 a0001c0001t0016g0266 a0001c0001t0037g0171	10	276	0.0362	32	c.132 others(51): Show c.1326-4253_1326-4222dupAATATTTCTCAAATATAATAATTTGA GAAATT	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUFY3_chr4_70716964_70813619	70765209	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATACATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp1 HG02155.hp1 others(5): Show HG00673.hp2 HG02083.hp1 HG02155.hp1 HG03239.hp2 NA18950.hp1 NA18961.hp1 NA19060.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012	a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 others(5): Show a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0061 a0001c0001t0006g0144 a0001c0001t0006g0150 a0001c0001t0012g0039	8	254	0.0315	32	c.572 others(47): Show c.572+634_572+635insGTGTATATATATATATACATATATATATAT AT	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUFY3_chr4_70716964_70813619	70765213	A A	ATATATAT others(25): Show ATATATATATACATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0223 a0001c0001t0034g0223	1	254	0.0039	32	c.572 others(47): Show c.572+647_572+648insCATATATATATATATATATATGTATATATA TA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3B_chr7_87623398_87837296	87652621	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0183 a0001c0001t0041g0183	1	202	0.0050	32	c.238 others(49): Show c.238+1709_238+1710insTATATATATATATATATATATATATATA TATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0063 a0001c0005t0063	a0001c0005t0063g0131 a0001c0005t0063g0131	1	132	0.0076	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACATATATATATATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0030 a0001c0001t0056g0030	1	132	0.0076	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACACACATATATATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1T1_chr8_91949972_92108385	92060553	A A	ATATATAT others(25): Show ATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0127 a0001c0001t0041g0127	1	132	0.0076	32	c.88+ others(49): Show c.88+15411_88+15412insCACACACACACACACACACATATATATA TATA	RUNX1T1	ENSG00000079102.18	transcript	ENST00000523629.7	protein_coding	2/11			chr8	TogoVar
RUNX1_chr21_34782801_35054302	34930270	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0134 a0001c0006t0006g0134	1	170	0.0059	32	c.59- others(49): Show c.59-37308_59-37307insTATATATATATATATATATATATACACA CACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX3_chr1_24894511_24935276	24934793	G G	GGGAAGAG others(25): Show GGGAAGAGCTAGCATCTAGATACAGAGGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	386	0.0026	32	c.-49 others(43): Show c.-4957_-4926dupTCTTTCCTCTGTATCTAGATGCTAGCTCTTCC	RUNX3	ENSG00000020633.19	transcript	ENST00000308873.11	protein_coding		4518		chr1	TogoVar
RUVBL1_chr3_128075810_128128812	128124573	T T	TTAGCACA others(25): Show TTAGCACAACCTGCACCACAATTGTACTTGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	360	0.0028	32	c.-88 others(41): Show c.-881_-850dupTGGCAAGTACAATTGTGGTGCAGGTTGTGCTA	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding		762		chr3	TogoVar
RWDD3_chr1_95229210_95252225	95231621	C C	CAGTAGCC others(25): Show CAGTAGCCTGTGAATACGAGGAAAATATACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	430	0.0023	32	c.-26 others(43): Show c.-2610_-2609insAGTAGCCTGTGAATACGAGGAAAATATACAAA	RWDD3	ENSG00000122481.17	transcript	ENST00000370202.5	protein_coding		2588		chr1	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01975.hp1 HG03130.hp1 others(3): Show HG00639.hp2 HG01975.hp1 HG03130.hp1 NA18964.hp2 NA19063.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0159 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0288 a0001c0001t0001g0298	6	480	0.0125	32	c.535 others(49): Show c.535-1979_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02896.hp1 HG02523.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0131 a0001c0001t0001g0136	2	210	0.0095	32	c.49+ others(49): Show c.49+20085_49+20086insATATATATATATATATATATATATATTT TTTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158650432	A A	AATATATA others(25): Show AATATATATATATATAAATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	210	0.0048	32	c.197 others(51): Show c.1976-1310_1976-1309insAATATATATAAATATATATATATATA TATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR1_chr19_38428691_38592564	38484438	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTCTCTCCCTCCCTCACTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01109.hp1 HG01884.hp1 others(24): Show HG01070.hp1 HG01109.hp1 HG01884.hp1 HG02080.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp2 NA18951.hp2 NA18980.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19067.hp1 NA19068.hp2	a0001 a0003 a0004 others(7): Show a0001 a0003 a0004 a0014 a0015 a0017 a0019 a0020 a0029 a0030	a0001c0011 a0001c0019 a0001c0020 others(19): Show a0001c0011 a0001c0019 a0001c0020 a0001c0049 a0001c0052 a0001c0056 a0001c0058 a0001c0059 a0001c0066 a0001c0069 a0001c0108 a0003c0051 a0004c0015 a0004c0072 a0004c0115 a0014c0073 a0015c0086 a0017c0041 a0019c0080 a0020c0081 a0029c0057 a0030c0048	a0001c0011t0001 a0001c0019t0002 a0001c0020t0001 others(19): Show a0001c0011t0001 a0001c0019t0002 a0001c0020t0001 a0001c0049t0003 a0001c0052t0003 a0001c0056t0001 a0001c0058t0001 a0001c0059t0001 a0001c0066t0001 a0001c0069t0001 a0001c0108t0001 a0003c0051t0003 a0004c0015t0001 a0004c0072t0001 a0004c0115t0004 a0014c0073t0001 a0015c0086t0001 a0017c0041t0001 a0019c0080t0001 a0020c0081t0001 a0029c0057t0002 a0030c0048t0001	a0001c0011t0001g0003 a0001c0011t0001g0005 a0001c0011t0001g0021 others(24): Show a0001c0011t0001g0003 a0001c0011t0001g0005 a0001c0011t0001g0021 a0001c0019t0002g0218 a0001c0020t0001g0185 a0001c0020t0001g0197 a0001c0049t0003g0033 a0001c0052t0003g0034 a0001c0056t0001g0135 a0001c0058t0001g0001 a0001c0059t0001g0184 a0001c0066t0001g0092 a0001c0069t0001g0139 a0001c0108t0001g0138 a0003c0051t0003g0036 a0004c0015t0001g0098 a0004c0015t0001g0187 a0004c0015t0001g0188 a0004c0072t0001g0125 a0004c0115t0004g0216 a0014c0073t0001g0126 a0015c0086t0001g0019 a0017c0041t0001g0117 a0019c0080t0001g0142 a0020c0081t0001g0143 a0029c0057t0002g0204 a0030c0048t0001g0118	27	218	0.1239	32	c.493 others(49): Show c.4934+931_4934+962dupCCTTCCTCTCTCCCTCCCTCACTTCCTT CCTT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	33/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0074 a0001c0029t0001g0074	1	218	0.0046	32	c.29 others(43): Show c.2974_*2975insAAAAAAAAAAAAATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(25): Show CCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	100	0.0100	32	c.49- others(49): Show c.49-32540_49-32539insCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237710699	G G	GTAGATAG others(25): Show GTAGATAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02572.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG02572.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0009 a0002c0012 others(1): Show a0001c0008 a0002c0009 a0002c0012 a0002c0038	a0001c0008t0027 a0002c0009t0002 a0002c0012t0002 others(1): Show a0001c0008t0027 a0002c0009t0002 a0002c0012t0002 a0002c0038t0043	a0001c0008t0027g0081 a0002c0009t0002g0079 a0002c0012t0002g0072 others(1): Show a0001c0008t0027g0081 a0002c0009t0002g0079 a0002c0012t0002g0072 a0002c0038t0043g0096	4	100	0.0400	32	c.102 others(53): Show c.10231-1028_10231-1027insGATAGATAGATAGATAGATAGATA GATAGATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	70/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33464499	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0149 a0004c0006t0001g0149	1	154	0.0065	32	c.52- others(47): Show c.52-8915_52-8914insTATATATATATATATATATACACATACATA TA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664587	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18906.hp2 HG02896.hp1 NA18906.hp2	a0023 a0039 a0023 a0039	a0023c0118 a0039c0064 a0023c0118 a0039c0064	a0023c0118t0003 a0039c0064t0003 a0023c0118t0003 a0039c0064t0003	a0023c0118t0003g0048 a0039c0064t0003g0052 a0023c0118t0003g0048 a0039c0064t0003g0052	2	154	0.0130	32	c.561 others(49): Show c.5619+851_5619+852insATGTATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTATGTAT others(25): Show GTATGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0135 a0001c0047t0001g0135	1	154	0.0065	32	c.561 others(49): Show c.5619+855_5619+856insGTATATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0012 a0012	a0012c0027 a0012c0027	a0012c0027t0001 a0012c0027t0001	a0012c0027t0001g0046 a0012c0027t0001g0046	1	154	0.0065	32	c.561 others(49): Show c.5619+853_5619+854insGTGTATATATATATATATATATATATAT ATAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0011 a0001c0046t0011	a0001c0046t0011g0065 a0001c0046t0011g0065	1	154	0.0065	32	c.983 others(51): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGG others(25): Show AGGGGGGGGCGGGGGGGGGTGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	452	0.0022	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCGCCCCCACCCCCCCCCGCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGGT others(25): Show AGGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	452	0.0022	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCACCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01071.hp1 HG03710.hp1 others(4): Show HG00558.hp2 HG01071.hp1 HG03710.hp1 HG03831.hp1 NA18961.hp2 NA19004.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0035 a0001c0001t0006g0090 a0001c0002t0001g0121 others(3): Show a0001c0001t0001g0035 a0001c0001t0006g0090 a0001c0002t0001g0121 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0003g0208	7	452	0.0155	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01106.hp2 HG01109.hp1 HG00544.hp1 HG01106.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0002t0002g0068 a0001c0001t0001g0136 a0001c0001t0001g0169 a0001c0002t0002g0068	3	452	0.0066	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(25): Show AGGGGGTGGGGGGTGGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	452	0.0022	32	c.-1- others(45): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0298 a0001c0001t0003g0299	2	340	0.0059	32	c.-11 others(49): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA TATA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR4_chr19_3173769_3185332	3176804	C C	CCAGACCC others(25): Show CCAGACCCCAGGGCAAGGCTGAGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18949.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18983.hp2 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0012 a0001c0014 a0002c0004 a0003c0005 a0004c0008 a0006c0015 a0008c0013 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0001 a0002c0004t0001 a0003c0005t0001 a0004c0008t0001 a0006c0015t0001 a0008c0013t0001 a0009c0010t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 others(11): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0003t0001g0000 a0001c0006t0001g0000 a0001c0011t0001g0000 a0001c0012t0001g0000 a0001c0014t0001g0000 a0002c0004t0001g0000 a0003c0005t0001g0000 a0004c0008t0001g0000 a0006c0015t0001g0000 a0008c0013t0001g0000 a0009c0010t0001g0000	169	418	0.4043	32	c.-19 others(43): Show c.-1989_-1988insCAGACCCCAGGGCAAGGCTGAGCCTCCCTCCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1964		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3176804	C C	CCAGACCC others(25): Show CCAGACCCCAGGGCCAGGCTGAGCCTCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	32	c.-19 others(43): Show c.-1989_-1988insCAGACCCCAGGGCCAGGCTGAGCCTCCCTCCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1964		chr19	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	474	0.0021	32	c.-33 others(43): Show c.-3377_-3376insAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02273.hp2 HG01496.hp1 HG02273.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0032 a0002c0002t0001g0015 a0001c0001t0001g0032 a0002c0002t0001g0015	2	474	0.0042	32	c.-33 others(43): Show c.-3377_-3376insAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SAA2_chr11_18240240_18253668	18251974	C C	CCTTCCTT others(25): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	474	0.0021	32	c.-33 others(43): Show c.-3377_-3376insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3307		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0131 a0001c0002t0002g0131	1	354	0.0028	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATATATATTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG03017.hp2 HG03209.hp2 HG00735.hp1 HG03017.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0003 a0001c0002t0006 a0002c0001t0009 a0001c0002t0003 a0001c0002t0006 a0002c0001t0009	a0001c0002t0003g0141 a0001c0002t0006g0150 a0002c0001t0009g0102 a0001c0002t0003g0141 a0001c0002t0006g0150 a0002c0001t0009g0102	3	354	0.0085	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0140 a0001c0002t0002g0140	1	354	0.0028	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02056.hp1 HG02155.hp2 others(1): Show HG00733.hp2 HG02056.hp1 HG02155.hp2 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005	a0001c0002t0002g0152 a0001c0002t0003g0156 a0001c0002t0005g0031 others(1): Show a0001c0002t0002g0152 a0001c0002t0003g0156 a0001c0002t0005g0031 a0001c0002t0005g0174	4	354	0.0113	32	c.-28 others(43): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0246 a0002c0001t0001g0246	1	354	0.0028	32	c.49 others(43): Show c.4922_*4923insATATATATATATATATATATATATATATATAT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		3183		chr3	TogoVar
SACS_chr13_23323830_23438702	23399019	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	378	0.0027	32	c.20+ others(49): Show c.20+12200_20+12201insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9			chr13	TogoVar
SAMD11_chr1_918923_949574	934875	C C	CGGGGGGG others(25): Show CGGGGGGGAGGCGGCTGCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0015 a0006c0016t0015	a0006c0016t0015g0263 a0006c0016t0015g0263	1	434	0.0023	32	c.843 others(47): Show c.843-892_843-891insGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD4A_chr14_54562128_54798312	54678430	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	262	0.0038	32	c.197 others(51): Show c.197-23632_197-23631insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	2/12			chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724003	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0002 a0001c0001t0039g0002	1	262	0.0038	32	c.716 others(51): Show c.716-13018_716-13017insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD4A_chr14_54562128_54798312	54724007	T T	TGGAAGGA others(25): Show TGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19081.hp1 HG00735.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0165 a0001c0001t0015g0136 a0001c0001t0002g0165 a0001c0001t0015g0136	2	262	0.0076	32	c.716 others(51): Show c.716-13004_716-12973dupGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAA	SAMD4A	ENSG00000020577.14	transcript	ENST00000554335.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(25): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01099.hp1 others(17): Show HG00438.hp2 HG01071.hp1 HG01099.hp1 HG01358.hp2 HG01515.hp1 HG02074.hp2 HG02135.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp1 HG03927.hp1 HG04199.hp1 NA18951.hp2 NA18957.hp1 NA19010.hp2 NA19056.hp1 NA19068.hp2 NA19074.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0024 a0001c0001t0042 a0001c0001t0004 a0001c0001t0024 a0001c0001t0042	a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0164 others(17): Show a0001c0001t0004g0156 a0001c0001t0004g0161 a0001c0001t0004g0164 a0001c0001t0004g0171 a0001c0001t0004g0186 a0001c0001t0004g0197 a0001c0001t0004g0205 a0001c0001t0004g0209 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0297 a0001c0001t0004g0325 a0001c0001t0024g0138 a0001c0001t0024g0140 a0001c0001t0024g0141 a0001c0001t0042g0133	20	340	0.0588	32	c.25 others(43): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02970.hp1 others(4): Show HG02622.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp2 HG03453.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0040 a0001c0001t0053 others(1): Show a0001c0001t0026 a0001c0001t0040 a0001c0001t0053 a0001c0001t0076	a0001c0001t0026g0247 a0001c0001t0026g0252 a0001c0001t0026g0270 others(4): Show a0001c0001t0026g0247 a0001c0001t0026g0252 a0001c0001t0026g0270 a0001c0001t0040g0232 a0001c0001t0040g0285 a0001c0001t0053g0287 a0001c0001t0076g0245	7	340	0.0206	32	c.25 others(43): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar

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