Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01099.hp2 HG01516.hp2 others(13): Show HG00621.hp1 HG01099.hp2 HG01516.hp2 HG01934.hp1 HG02129.hp1 HG02155.hp1 HG02647.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 NA18954.hp2 NA18977.hp2 NA19005.hp2 NA19060.hp1 NA19066.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0100 a0001c0001t0002g0005	16	446	0.0359	23	c.-11 others(34): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RC3H1_chr1_173926084_174027357	173929831	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 NA18943.hp2 NA18968.hp1 HG03491.hp2 NA18943.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0105 a0001c0001t0127 a0001c0001t0006 a0001c0001t0105 a0001c0001t0127	a0001c0001t0006g0046 a0001c0001t0105g0056 a0001c0001t0127g0021 a0001c0001t0006g0046 a0001c0001t0105g0056 a0001c0001t0127g0021	3	310	0.0097	23	c.88 others(34): Show c.8889_*8890insTAAAAAAAAAAAAAAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1252		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02622.hp1 HG01070.hp2 HG01071.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0135 a0001c0001t0024 a0001c0001t0135	a0001c0001t0024g0003 a0001c0001t0135g0304 a0001c0001t0024g0003 a0001c0001t0135g0304	3	310	0.0097	23	c.252 others(42): Show c.2523+1565_2523+1566insTTTTTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0092 a0001c0001t0079g0092	1	310	0.0032	23	c.-15 others(42): Show c.-151+4290_-151+4312dupTTTTTTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RCAN2_chr6_46215736_46496449	46367053	A A	ATATATAT others(16): Show ATATATATTATATATATATATATC	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	158	0.0063	23	c.225 others(42): Show c.225+89698_225+89699insGATATATATATATATAATATATA	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	294	0.0034	23	c.52 others(34): Show c.5232_*5233insAAAAAAAAAAAAAATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0040 a0001c0002t0005g0040	1	294	0.0034	23	c.52 others(34): Show c.5232_*5233insAAAAAAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0041	1	294	0.0034	23	c.52 others(34): Show c.5232_*5233insAAAAAAAAAATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	294	0.0034	23	c.52 others(34): Show c.5232_*5233insAAAAAAAATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	390	0.0026	23	c.286 others(40): Show c.286-2161_286-2160insATATATATATATATATATATTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0354 a0001c0001t0008g0354	1	390	0.0026	23	c.286 others(40): Show c.286-2161_286-2160insATATATATATATATATATATATT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(16): Show ATAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01978.hp2 HG02293.hp2 others(1): Show HG01243.hp1 HG01978.hp2 HG02293.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0217 a0001c0001t0004g0283 a0001c0001t0004g0011 a0001c0001t0004g0217 a0001c0001t0004g0283	4	390	0.0103	23	c.286 others(40): Show c.286-2161_286-2160insATATATATATATATATATTTTTA	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATT others(16): Show TATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03688.hp1 HG02080.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0268 a0001c0001t0003g0083 a0001c0001t0001g0268 a0001c0001t0003g0083	2	406	0.0049	23	c.657 others(40): Show c.657+2898_657+2899insTATGAATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00639.hp1 others(30): Show HG00140.hp2 HG00609.hp2 HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01123.hp1 HG01255.hp2 HG01496.hp2 HG02004.hp1 HG02027.hp2 HG02257.hp2 HG02630.hp2 HG03927.hp1 NA18951.hp1 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19009.hp2 NA19063.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 others(5): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035	a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 others(30): Show a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0007g0036 a0001c0001t0007g0142 a0001c0001t0007g0174 a0001c0001t0007g0182 a0001c0001t0007g0192 a0001c0001t0013g0199 a0001c0001t0013g0200 a0001c0001t0013g0204 a0001c0001t0014g0181 a0001c0001t0014g0314 a0001c0001t0031g0172 a0001c0001t0033g0180 a0001c0001t0034g0183 a0001c0001t0035g0198	33	350	0.0943	23	c.-30 others(34): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	350	0.0029	23	c.6+3 others(34): Show c.6+302_6+324dupAAAAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH12_chr14_67696886_67739451	67712818	C C	CAGTTGGC others(16): Show CAGTTGGCGGCTAGCAAAAAGGTG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0287 a0002c0002t0001g0287	1	434	0.0023	23	c.-27 others(42): Show c.-274-8023_-274-8022insGGCTAGCAAAAAGGTGAGTTGGC	RDH12	ENSG00000139988.10	transcript	ENST00000551171.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	376	0.0027	23	c.-65 others(40): Show c.-65+6488_-65+6510dupTTTTTTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REEP1_chr2_86208993_86342626	86288032	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03579.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0026 a0001c0002t0020 a0001c0002t0026	a0001c0002t0020g0306 a0001c0002t0026g0017 a0001c0002t0020g0306 a0001c0002t0026g0017	2	320	0.0063	23	c.33- others(38): Show c.33-5791_33-5790insAAAAAAAAAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP3_chr10_63516401_63630128	63533710	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02615.hp2 HG03239.hp1 others(2): Show HG01358.hp1 HG02615.hp2 HG03239.hp1 NA18943.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(2): Show a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0018g0193	5	284	0.0176	23	c.32+ others(40): Show c.32+12148_32+12149insTTTTTTTTTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP6_chr19_1486181_1502927	1496537	T T	TTTGACCG others(16): Show TTTGACCGCCCACTGTCTGGCATC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG03098.hp2 HG02109.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0134 a0001c0001t0004g0151 a0001c0001t0004g0100 a0001c0001t0004g0134 a0001c0001t0004g0151	3	318	0.0094	23	c.517 others(36): Show c.517+87_517+88insACCGCCCACTGTCTGGCATCTTG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
REEP6_chr19_1486181_1502927	1500696	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0148 a0001c0001t0006g0148	1	318	0.0031	23	c.34 others(34): Show c.3485_*3486insAAAAAAAAAAAAAAAAAAAAAAA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2770		chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	382	0.0026	23	c.505 others(40): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0032 a0001c0005t0002g0032	1	184	0.0054	23	c.786 others(40): Show c.7862+817_7862+818insAAAAAAAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103733304	G G	GGATGTGG others(16): Show GGATGTGGAGAAATAGGAACACTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0003 a0002c0015t0003	a0002c0015t0003g0173 a0002c0015t0003g0173	1	184	0.0054	23	c.657 others(40): Show c.657-5120_657-5098dupAAGTGTTCCTATTTCTCCACATC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	6/64			chr7	TogoVar
REPS1_chr6_138898493_138993253	138907313	A A	AAGTGTGT others(16): Show AAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02622.hp1 HG02004.hp1 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0021 a0002c0003t0004 a0001c0001t0021 a0002c0003t0004	a0001c0001t0021g0015 a0002c0003t0004g0036 a0001c0001t0021g0015 a0002c0003t0004g0036	2	390	0.0051	23	c.232 others(40): Show c.2322+181_2322+182insACACACACACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	19/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(16): Show AAGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	390	0.0026	23	c.154 others(40): Show c.154-7545_154-7544insACACACACACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03139.hp1 HG03516.hp2 others(2): Show HG00621.hp1 HG03139.hp1 HG03516.hp2 HG04228.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0002g0110 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0002g0129	5	166	0.0301	23	c.151 others(44): Show c.1517-10518_1517-10517insTATATATATATATATATATATAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RER1_chr1_2386841_2410436	2401241	T T	TTCCCCTC others(16): Show TTCCCCTCCCTCCTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp2 NA19074.hp1 HG00544.hp2 HG02074.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107	3	354	0.0085	23	c.365 others(38): Show c.365+309_365+310insCCTCCCTCCTTCCTCCCTCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401252	T T	TTCCTCCC others(16): Show TTCCTCCCTCCTCCTCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	354	0.0028	23	c.365 others(38): Show c.365+330_365+331insTCCTCCCTCCTCCTCCCTCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	C C	CCATATAT others(16): Show CCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0007 a0001c0003t0004g0007	1	204	0.0049	23	c.128 others(44): Show c.1284+21688_1284+21689insATATATATATATATATATATATG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA19009.hp2 HG02258.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0068 a0001c0003t0004g0078 a0001c0003t0004g0068 a0001c0003t0004g0078	2	204	0.0098	23	c.831 others(40): Show c.831-3362_831-3340dupAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02165.hp1 HG02976.hp2 others(1): Show HG01934.hp1 HG02165.hp1 HG02976.hp2 NA19002.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0006 a0004c0012 a0001c0003 a0002c0006 a0004c0012	a0001c0003t0008 a0002c0006t0003 a0004c0012t0008 a0001c0003t0008 a0002c0006t0003 a0004c0012t0008	a0001c0003t0008g0085 a0002c0006t0003g0090 a0002c0006t0003g0091 others(1): Show a0001c0003t0008g0085 a0002c0006t0003g0090 a0002c0006t0003g0091 a0004c0012t0008g0138	4	204	0.0196	23	c.831 others(40): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8529287	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0127 a0001c0005t0026g0127	1	204	0.0049	23	c.830 others(42): Show c.830+11926_830+11927insAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp2 HG02145.hp1 HG02723.hp2	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0041 a0001c0011t0007 a0001c0009t0041 a0001c0011t0007	a0001c0009t0041g0198 a0001c0011t0007g0027 a0001c0009t0041g0198 a0001c0011t0007g0027	2	204	0.0098	23	c.726 others(40): Show c.726-4687_726-4665dupAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01361.hp2 HG03453.hp1 others(1): Show HG00544.hp1 HG01361.hp2 HG03453.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0001 a0001c0001t0023 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0023 a0001c0002t0005 a0002c0006t0003	a0001c0001t0001g0048 a0001c0001t0023g0113 a0001c0002t0005g0125 others(1): Show a0001c0001t0001g0048 a0001c0001t0023g0113 a0001c0002t0005g0125 a0002c0006t0003g0139	4	204	0.0196	23	c.523 others(40): Show c.523-1780_523-1758dupTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0014 a0001c0003t0004g0014	1	204	0.0049	23	c.522 others(40): Show c.522+7004_522+7026dupAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0002 a0001c0002t0018g0002	1	204	0.0049	23	c.-14 others(44): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0142 a0001c0004t0010g0142	1	204	0.0049	23	c.-14 others(44): Show c.-145+27858_-145+27859insATATATATATATATATTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8809157	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18906.hp2 HG02818.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0028 a0001c0002t0005 a0001c0002t0028	a0001c0002t0005g0134 a0001c0002t0028g0133 a0001c0002t0005g0134 a0001c0002t0028g0133	2	204	0.0098	23	c.-14 others(42): Show c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RESF1_chr12_31954415_31998107	31959355	A A	AGCCTAGC others(16): Show AGCCTAGCTGTTCCTGGATCCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0266 a0002c0003t0001g0266	1	452	0.0022	23	c.-47 others(32): Show c.-478_-477insGCCTAGCTGTTCCTGGATCCTGG	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		59		chr12	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02135.hp1 HG02615.hp2 others(4): Show HG02071.hp2 HG02135.hp1 HG02615.hp2 HG02970.hp2 HG03834.hp2 NA18966.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0002g0004	7	458	0.0153	23	c.45 others(34): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
REV1_chr2_99395477_99495017	99490085	C C	CCGGCCCC others(16): Show CCGGCCCCGCCCACGCCCCCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0013	a0001c0001 a0001c0015 a0003c0003 others(13): Show a0001c0001 a0001c0015 a0003c0003 a0003c0006 a0003c0010 a0003c0012 a0003c0013 a0004c0004 a0004c0008 a0004c0017 a0005c0005 a0007c0014 a0008c0011 a0011c0016 a0012c0018 a0013c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0015t0002 a0003c0003t0001 a0003c0003t0003 a0003c0006t0001 a0003c0010t0001 a0003c0012t0001 a0003c0013t0006 a0004c0004t0001 a0004c0004t0005 a0004c0008t0001 a0004c0017t0001 a0005c0005t0001 a0007c0014t0001 a0008c0011t0001 a0011c0016t0001 a0012c0018t0001 a0013c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0110 others(213): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0208 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0004g0139 a0001c0001t0004g0148 a0001c0001t0004g0151 a0001c0001t0009g0201 a0001c0015t0002g0203 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0090 a0003c0003t0001g0093 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0123 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0200 a0003c0003t0001g0209 a0003c0003t0003g0089 a0003c0003t0003g0091 a0003c0003t0003g0092 a0003c0003t0003g0094 a0003c0003t0003g0095 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0010t0001g0109 a0003c0012t0001g0097 a0003c0013t0006g0130 a0004c0004t0001g0006 a0004c0004t0001g0007 a0004c0004t0001g0008 a0004c0004t0001g0009 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0015 a0004c0004t0001g0016 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0019 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0025 a0004c0004t0001g0026 a0004c0004t0001g0027 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0035 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0041 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0047 a0004c0004t0005g0004 a0004c0008t0001g0033 a0004c0008t0001g0036 a0004c0017t0001g0034 a0005c0005t0001g0053 a0005c0005t0001g0069 a0005c0005t0001g0070 a0005c0005t0001g0071 a0005c0005t0001g0072 a0005c0005t0001g0073 a0005c0005t0001g0076 a0005c0005t0001g0078 a0005c0005t0001g0086 a0005c0005t0001g0099 a0007c0014t0001g0127 a0008c0011t0001g0115 a0011c0016t0001g0049 a0012c0018t0001g0042 a0013c0021t0001g0311	219	324	0.6759	23	c.-28 others(32): Show c.-280_-279insCGGAGGGGGCGTGGGCGGGGCCG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		69		chr2	TogoVar
REV1_chr2_99395477_99495017	99490085	C C	CCGGCCCC others(16): Show CCGGCCCCGCCCACGCCCTCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	324	0.0031	23	c.-28 others(32): Show c.-280_-279insCGGAGAGGGCGTGGGCGGGGCCG	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding		69		chr2	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0261 a0001c0002t0001g0261	1	372	0.0027	23	c.476 others(40): Show c.476-1217_476-1216insATATATATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02004.hp1 NA18948.hp1 HG01123.hp1 HG02004.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0141 a0001c0002t0002g0160 a0001c0002t0002g0112 a0001c0002t0002g0141 a0001c0002t0002g0160	3	276	0.0109	23	c.332 others(40): Show c.332-1394_332-1372dupTTTTTTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(16): Show TTTTCTTTCTTTCTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG06807.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	2	388	0.0052	23	c.207 others(38): Show c.207+450_207+451insCTTTCTTTCTTTCTTTCTTTCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01175.hp1 HG00140.hp2 HG00735.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0283 a0001c0001t0001g0350 a0001c0001t0005g0247 a0001c0001t0001g0283 a0001c0001t0001g0350 a0001c0001t0005g0247	3	388	0.0077	23	c.208 others(40): Show c.208-1644_208-1622dupAAAAAAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320726	G G	GGGGGTAG others(16): Show GGGGGTAGGTGGGATGACCTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0065 a0002c0005t0005g0065	1	388	0.0026	23	c.62 others(34): Show c.6201_*6202insGGGGTAGGTGGGATGACCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4703		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTTGTGTG others(16): Show TTTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	268	0.0037	23	c.114 others(44): Show c.1146+12667_1146+12668insCACACACACACACACACACACAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	268	0.0037	23	c.442 others(40): Show c.442-9469_442-9468insGAGAGAGAGAGAGAGAGAGAGAG	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar

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