Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RERE_chr1_8347404_8822640	8605845	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0027 a0001c0004t0027	a0001c0004t0027g0106 a0001c0004t0027g0106	1	204	0.0049	18	c.522 others(35): Show c.522+8715_522+8716insAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0008 a0002c0026t0008	a0002c0026t0008g0140 a0002c0026t0008g0140	1	204	0.0049	18	c.397 others(35): Show c.397-2658_397-2657insTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8630146	T T	TTCCAAGA others(11): Show TTCCAAGACACACAAAGAG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	204	0.0049	18	c.326 others(35): Show c.326-5784_326-5767dupCTCTTTGTGTGTCTTGGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8668924	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG02074.hp1 others(3): Show HG00280.hp2 HG00609.hp1 HG02074.hp1 HG03579.hp2 HG04228.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0022	a0001c0001t0003 a0001c0003t0011 a0001c0004t0010 others(2): Show a0001c0001t0003 a0001c0003t0011 a0001c0004t0010 a0001c0004t0025 a0001c0022t0008	a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0003t0011g0096 others(3): Show a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0003t0011g0096 a0001c0004t0010g0142 a0001c0004t0025g0080 a0001c0022t0008g0082	6	204	0.0294	18	c.-14 others(39): Show c.-144-12501_-144-12484dupCACACACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8669024	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG01261.hp1 others(5): Show HG00140.hp1 HG01192.hp1 HG01261.hp1 HG01981.hp1 HG02602.hp2 HG02698.hp1 HG03139.hp1 HG03139.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0026 a0003c0008	a0001c0001t0001 a0001c0003t0004 a0001c0004t0005 others(2): Show a0001c0001t0001 a0001c0003t0004 a0001c0004t0005 a0002c0026t0008 a0003c0008t0001	a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0003t0004g0017 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0073 a0001c0003t0004g0017 a0001c0003t0004g0021 a0001c0003t0004g0036 a0001c0004t0005g0123 a0002c0026t0008g0140 a0003c0008t0001g0031	8	204	0.0392	18	c.-14 others(39): Show c.-144-12601_-144-12584dupCACACACACACACACACA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789282	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0096 a0001c0003t0011g0096	1	204	0.0049	18	c.-14 others(39): Show c.-145+27860_-145+27877dupTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0201 a0001c0005t0009g0201	1	204	0.0049	18	c.-14 others(39): Show c.-145+27858_-145+27859insATATATATATATATTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15110463	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	300	0.0033	18	c.192 others(33): Show c.192+863_192+880dupAAAAAAAAAAAAAAAAAA	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	4/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15126128	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00738.hp2 others(17): Show HG00140.hp2 HG00408.hp1 HG00738.hp2 HG01257.hp2 HG01978.hp2 HG02145.hp1 HG02602.hp2 HG03017.hp2 HG03486.hp1 HG03688.hp2 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18980.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19063.hp1 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0173 a0001c0001t0001g0236 a0001c0001t0001g0248 others(17): Show a0001c0001t0001g0173 a0001c0001t0001g0236 a0001c0001t0001g0248 a0001c0001t0001g0263 a0001c0001t0002g0054 a0001c0001t0002g0078 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0002t0001g0052 a0001c0002t0001g0116 a0001c0002t0001g0149 a0001c0002t0001g0186 a0001c0002t0001g0199 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0224 a0001c0002t0001g0237 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0280	20	300	0.0667	18	c.62- others(33): Show c.62-5027_62-5010dupATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15133146	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	300	0.0033	18	c.62- others(35): Show c.62-12045_62-12028dupATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	300	0.0033	18	c.62- others(35): Show c.62-40020_62-40019insCTTTCTTTCTTTCTTTCT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956083	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02083.hp2 others(6): Show HG01081.hp2 HG01255.hp2 HG02083.hp2 HG02300.hp2 HG04115.hp2 NA18959.hp2 NA18972.hp2 NA19085.hp1 NA19091.hp1	a0002 a0007 a0009 others(1): Show a0002 a0007 a0009 a0013	a0002c0003 a0007c0007 a0009c0009 others(1): Show a0002c0003 a0007c0007 a0009c0009 a0013c0014	a0002c0003t0001 a0007c0007t0001 a0007c0007t0002 others(2): Show a0002c0003t0001 a0007c0007t0001 a0007c0007t0002 a0009c0009t0001 a0013c0014t0001	a0002c0003t0001g0261 a0007c0007t0001g0139 a0007c0007t0002g0145 others(6): Show a0002c0003t0001g0261 a0007c0007t0001g0139 a0007c0007t0002g0145 a0007c0007t0002g0147 a0007c0007t0002g0148 a0009c0009t0001g0001 a0009c0009t0001g0124 a0009c0009t0001g0263 a0013c0014t0001g0315	9	452	0.0199	18	c.-37 others(29): Show c.-3750_-3749insTTTTTTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3331		chr12	TogoVar
RESF1_chr12_31954415_31998107	31956096	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0059 a0003c0002t0001g0060 a0003c0002t0001g0059 a0003c0002t0001g0060	2	452	0.0044	18	c.-37 others(29): Show c.-3737_-3736insTTTTTTTTTTTTTTTTTG	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3318		chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	408	0.0025	18	c.-28 others(29): Show c.-2894_-2893insATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(11): Show TATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03195.hp1 HG03130.hp2 HG03195.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0002 a0001c0001t0004 a0003c0003t0002	a0001c0001t0004g0099 a0003c0003t0002g0006 a0001c0001t0004g0099 a0003c0003t0002g0006	2	408	0.0049	18	c.-28 others(29): Show c.-2876_-2875insATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56907875	T T	TGGCGGCG others(11): Show TGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 NA18963.hp2 NA19007.hp2 others(3): Show HG02132.hp1 NA18963.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0007 a0002c0002t0001 a0002c0002t0007	a0002c0002t0001g0043 a0002c0002t0001g0234 a0002c0002t0001g0243 others(3): Show a0002c0002t0001g0043 a0002c0002t0001g0234 a0002c0002t0001g0243 a0002c0002t0001g0249 a0002c0002t0001g0268 a0002c0002t0007g0299	6	408	0.0147	18	c.-34 others(27): Show c.-348_-347insGGCGGCGGCGGCGGCGGC	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		24		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03654.hp1 HG03704.hp2 others(1): Show HG02258.hp2 HG03654.hp1 HG03704.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0001g0008 a0001c0001t0003g0007 a0001c0001t0003g0039	4	458	0.0087	18	c.45 others(29): Show c.4510_*4511insTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
RETREG1_chr5_16468053_16621997	16527800	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA19043.hp2 others(1): Show HG01167.hp2 HG01169.hp1 NA19043.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0162 a0001c0002t0002g0050 a0001c0002t0002g0121 others(1): Show a0001c0001t0010g0162 a0001c0002t0002g0050 a0001c0002t0002g0121 a0001c0002t0002g0122	4	294	0.0136	18	c.458 others(37): Show c.458+37945_458+37962dupAAAAAAAAAAAAAAAAAA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETSAT_chr2_85336955_85359528	85349052	T T	TTTTTGGG others(11): Show TTTTTGGGTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19072.hp2 NA19000.hp1 NA19072.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	2	384	0.0052	18	c.997 others(33): Show c.997+331_997+332insCAAAAAAAAAACCCAAAA	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding	5/10			chr2	TogoVar
RETSAT_chr2_85336955_85359528	85355962	C C	CTGATCAT others(11): Show CTGATCATTATTACCACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(120): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18947.hp1 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19072.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0012	a0001c0001 a0001c0009 a0001c0012 others(6): Show a0001c0001 a0001c0009 a0001c0012 a0001c0021 a0002c0002 a0002c0006 a0005c0007 a0010c0014 a0012c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0009t0005 a0001c0009t0013 a0001c0012t0005 a0001c0021t0014 a0002c0002t0001 a0002c0006t0001 a0005c0007t0004 a0010c0014t0005 a0012c0018t0004	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 others(38): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0106 a0001c0001t0003g0003 a0001c0001t0003g0077 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0004g0005 a0001c0001t0004g0027 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0005g0009 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0096 a0001c0001t0005g0097 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0078 a0001c0001t0006g0091 a0001c0001t0006g0095 a0001c0001t0006g0098 a0001c0009t0005g0043 a0001c0009t0013g0044 a0001c0012t0005g0065 a0001c0021t0014g0117 a0002c0002t0001g0004 a0002c0002t0001g0023 a0002c0006t0001g0022 a0005c0007t0004g0025 a0010c0014t0005g0042 a0012c0018t0004g0047	123	384	0.3203	18	c.-14 others(29): Show c.-1456_-1455insCTGTGGTAATAATGATCA	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding		1435		chr2	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02293.hp2 NA20129.hp1 HG01106.hp2 HG02293.hp2 NA20129.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0063 a0003c0003t0001g0085 a0005c0005t0001g0053 a0003c0003t0001g0063 a0003c0003t0001g0085 a0005c0005t0001g0053	3	324	0.0093	18	c.244 others(35): Show c.2449-608_2449-591dupAAAAAAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99442252	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	324	0.0031	18	c.503 others(31): Show c.503+47_503+64dupTTTTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	5/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99442264	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	324	0.0031	18	c.503 others(31): Show c.503+52_503+53insGTTTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	5/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111470903	T T	TCGGGAGG others(11): Show TCGGGAGGTGGAGGTTGCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01168.hp1 others(12): Show HG00423.hp1 HG00609.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01361.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02083.hp2 HG02148.hp1 HG02809.hp2 HG03831.hp2 HG06807.hp1 NA18989.hp2	a0002 a0006 a0002 a0006	a0002c0009 a0002c0024 a0006c0004 a0002c0009 a0002c0024 a0006c0004	a0002c0009t0003 a0002c0024t0003 a0006c0004t0003 a0002c0009t0003 a0002c0024t0003 a0006c0004t0003	a0002c0009t0003g0250 a0002c0009t0003g0251 a0002c0009t0003g0252 others(12): Show a0002c0009t0003g0250 a0002c0009t0003g0251 a0002c0009t0003g0252 a0002c0009t0003g0253 a0002c0024t0003g0254 a0006c0004t0003g0255 a0006c0004t0003g0256 a0006c0004t0003g0257 a0006c0004t0003g0258 a0006c0004t0003g0259 a0006c0004t0003g0260 a0006c0004t0003g0261 a0006c0004t0003g0262 a0006c0004t0003g0265 a0006c0004t0003g0266	15	288	0.0521	18	c.139 others(37): Show c.139+11829_139+11846dupTGCAACCTCCACCTCCCG	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REXO1_chr19_1810248_1853483	1851434	T T	TAAAAGCC others(11): Show TAAAAGCCTAATGCGAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0071 a0003c0003t0001g0071	1	380	0.0026	18	c.-30 others(29): Show c.-3077_-3076insCACTCGCATTAGGCTTTT	REXO1	ENSG00000079313.15	transcript	ENST00000170168.9	protein_coding		2952		chr19	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01496.hp2 HG02559.hp2 others(3): Show HG00741.hp2 HG01496.hp2 HG02559.hp2 HG03654.hp2 NA18946.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0178 a0001c0001t0001g0201 others(3): Show a0001c0001t0001g0043 a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0311 a0001c0002t0001g0057	6	372	0.0161	18	c.476 others(35): Show c.476-1234_476-1217dupATATATATATATATATAT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03139.hp1 HG01952.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0180 a0001c0002t0002g0110 a0001c0001t0001g0180 a0001c0002t0002g0110	2	276	0.0073	18	c.332 others(35): Show c.332-1389_332-1372dupTTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFC3_chr13_33813149_33842500	33834298	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	416	0.0024	18	c.810 others(33): Show c.810-834_810-817dupATATATATATATATATAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834298	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02647.hp1 HG02809.hp2 others(1): Show HG02004.hp2 HG02647.hp1 HG02809.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0104 a0001c0001t0002g0112 a0001c0001t0002g0045 a0001c0001t0002g0104 a0001c0001t0002g0112	4	416	0.0096	18	c.810 others(33): Show c.810-849_810-848insGTGTATATATATATATAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(11): Show TATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18963.hp2 HG00621.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0070 a0001c0001t0002g0074	2	416	0.0048	18	c.810 others(33): Show c.810-817_810-816insATATATATACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFK_chr9_76380526_76399426	76398906	A A	AACCCTGC others(11): Show AACCCTGCTGATGTCAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	18	c.-47 others(29): Show c.-4736_-4735insCACTGACATCAGCAGGGT	RFK	ENSG00000135002.12	transcript	ENST00000376736.6	protein_coding		4481		chr9	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01074.hp2 others(40): Show HG00280.hp2 HG00642.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG02155.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18959.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18981.hp1 NA18993.hp1 NA18994.hp1 NA19056.hp2 NA19063.hp1 NA19082.hp1 NA19088.hp2 NA19089.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0002t0003	a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0215 others(39): Show a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0344 a0001c0001t0001g0348 a0001c0001t0005g0090 a0001c0001t0005g0092 a0001c0001t0005g0217 a0001c0001t0005g0226 a0001c0001t0005g0231 a0001c0001t0005g0236 a0001c0001t0008g0111 a0001c0001t0008g0136 a0001c0001t0015g0280 a0001c0001t0015g0335 a0001c0001t0024g0209 a0001c0001t0025g0281 a0001c0001t0032g0230 a0001c0002t0003g0191	43	388	0.1108	18	c.208 others(35): Show c.208-1639_208-1622dupAAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFPL4A_chr19_55754097_55768421	55759694	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	462	0.0022	18	c.-10 others(33): Show c.-10+522_-10+523insTTTTTTTTTTTTTTTTTT	RFPL4A	ENSG00000223638.4	transcript	ENST00000434937.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02257.hp2 HG02809.hp1 others(6): Show HG00408.hp2 HG02257.hp2 HG02809.hp1 HG03017.hp1 HG03139.hp1 NA18968.hp2 NA18987.hp1 NA18992.hp1 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 others(1): Show a0001c0002t0002 a0001c0002t0005 a0002c0003t0001 a0002c0003t0003	a0001c0002t0002g0074 a0001c0002t0002g0087 a0001c0002t0002g0090 others(6): Show a0001c0002t0002g0074 a0001c0002t0002g0087 a0001c0002t0002g0090 a0001c0002t0002g0111 a0001c0002t0005g0058 a0001c0002t0005g0085 a0001c0002t0005g0093 a0002c0003t0001g0134 a0002c0003t0003g0017	9	268	0.0336	18	c.36 others(29): Show c.3605_*3622dupAAAAAAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN1_chr3_16310845_16518699	16345264	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0249 a0002c0003t0004g0249	1	268	0.0037	18	c.114 others(39): Show c.1146+12650_1146+12667dupCACACACACACACACACA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	7/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	268	0.0037	18	c.442 others(35): Show c.442-9486_442-9469dupGAGAGAGAGAGAGAGAGA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16398244	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03471.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0001c0002t0002 a0002c0003t0003	a0001c0002t0002g0179 a0002c0003t0003g0177 a0001c0002t0002g0179 a0002c0003t0003g0177	2	268	0.0075	18	c.441 others(37): Show c.441+11113_441+11130dupTTTTTTTTTTTTTTTTTT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404156	T T	TTTATATA others(11): Show TTTATATATTTCATATATA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	268	0.0037	18	c.441 others(35): Show c.441+5218_441+5219insTATATATGAAATATATAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404183	T T	TTATATAT others(11): Show TTATATATTTCATATATAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01433.hp1 others(15): Show HG00609.hp2 HG01192.hp1 HG01433.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp2 NA18981.hp2 NA19070.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012	a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0098 others(15): Show a0001c0001t0001g0055 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0226 a0001c0001t0001g0248 a0001c0002t0001g0113 a0001c0002t0002g0117 a0001c0005t0001g0116 a0002c0003t0001g0001 a0002c0003t0003g0095 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0253 a0002c0003t0004g0106 a0002c0003t0004g0108 a0002c0003t0004g0168 a0002c0003t0004g0171 a0002c0003t0012g0052	18	268	0.0672	18	c.441 others(35): Show c.441+5191_441+5192insTTATATATGAAATATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197616269	A A	ATTTTATT others(11): Show ATTTTATTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02809.hp1 others(2): Show HG00639.hp1 HG01884.hp1 HG02809.hp1 HG03579.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0023 a0003c0004t0002	a0001c0001t0003g0068 a0001c0001t0006g0156 a0001c0001t0006g0157 others(2): Show a0001c0001t0003g0068 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0023g0102 a0003c0004t0002g0131	5	312	0.0160	18	c.105 others(35): Show c.1051-291_1051-290insAAAATAAAATAAATAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	6/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197629675	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18939.hp2 NA18946.hp1 others(4): Show HG02886.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp1 NA18981.hp2 NA19056.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0001 a0001c0001t0003g0027 a0001c0001t0003g0028 others(3): Show a0001c0001t0003g0001 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0006g0154	7	312	0.0224	18	c.928 others(35): Show c.928+1318_928+1335dupGTGTGTGTGTGTGTGTGT	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	5/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197643320	T T	TGGCCTCA others(11): Show TGGCCTCAAGTGATCCTCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	312	0.0032	18	c.438 others(33): Show c.438+820_438+837dupGGAGGATCACTTGAGGCC	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	3/8			chr2	TogoVar
RFTN2_chr2_197563224_197680587	197665517	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG00735.hp2 others(51): Show HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01891.hp1 HG01934.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03942.hp1 HG06807.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp2 NA18949.hp1 NA18956.hp1 NA18963.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18982.hp1 NA18986.hp1 NA18993.hp2 NA19005.hp2 NA19030.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp2 NA19075.hp1 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0007t0002	a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0049 others(50): Show a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0003g0002 a0001c0001t0003g0070 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0150 a0001c0001t0003g0185 a0001c0001t0005g0041 a0001c0001t0005g0080 a0001c0001t0005g0088 a0001c0001t0005g0092 a0001c0001t0005g0103 a0001c0001t0005g0138 a0001c0001t0005g0151 a0001c0001t0007g0082 a0001c0001t0007g0084 a0001c0001t0007g0098 a0001c0001t0007g0101 a0001c0001t0008g0005 a0001c0001t0008g0007 a0001c0001t0008g0063 a0001c0001t0009g0051 a0001c0001t0009g0053 a0001c0001t0011g0060 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0012g0142 a0001c0001t0017g0146 a0001c0001t0017g0147 a0001c0001t0018g0300 a0001c0001t0019g0036 a0001c0001t0022g0091 a0001c0001t0023g0102 a0001c0007t0002g0086	54	312	0.1731	18	c.139 others(35): Show c.139+9802_139+9803insAAAAAAAAAAAAAAAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFX1_chr19_13956530_14011320	13994893	C C	CATACATA others(11): Show CATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	280	0.0036	18	c.-52 others(33): Show c.-52-999_-52-998insATATATATATATATGTAT	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	1/20			chr19	TogoVar
RFX2_chr19_5988164_6115500	6080202	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp1 NA19077.hp2 HG02976.hp1 HG03540.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0001 a0001c0001t0017 a0001c0003t0001	a0001c0001t0017g0239 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0001t0017g0239 a0001c0003t0001g0255 a0001c0003t0001g0256	3	308	0.0097	18	c.-9+ others(35): Show c.-9+30173_-9+30190dupCACACACACACACACACA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3410161	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02083.hp1 HG02647.hp1 others(4): Show HG00639.hp2 HG02083.hp1 HG02647.hp1 HG03041.hp1 NA18747.hp2 NA19012.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0026 a0001c0001t0061 a0001c0001t0074	a0001c0001t0002g0117 a0001c0001t0010g0105 a0001c0001t0011g0185 others(4): Show a0001c0001t0002g0117 a0001c0001t0010g0105 a0001c0001t0011g0185 a0001c0001t0021g0108 a0001c0001t0026g0196 a0001c0001t0061g0046 a0001c0001t0074g0195	7	196	0.0357	18	c.-8- others(35): Show c.-8-14583_-8-14566dupCACACACACACACACACA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3414745	A A	AGTATATA others(11): Show AGTATATATGAGTATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00621.hp2 others(105): Show HG00140.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01952.hp1 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp2 NA19086.hp1 NA19086.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0002t0009 a0001c0003t0004 a0001c0004t0048 a0001c0005t0010 a0001c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0039 a0001c0001t0002g0093 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0003g0045 a0001c0001t0003g0110 a0001c0001t0003g0182 a0001c0001t0004g0032 a0001c0001t0004g0095 a0001c0001t0004g0103 a0001c0001t0005g0030 a0001c0001t0005g0138 a0001c0001t0005g0153 a0001c0001t0005g0171 a0001c0001t0006g0007 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0094 a0001c0001t0006g0157 a0001c0001t0006g0164 a0001c0001t0007g0076 a0001c0001t0007g0111 a0001c0001t0010g0021 a0001c0001t0011g0040 a0001c0001t0011g0041 a0001c0001t0011g0185 a0001c0001t0012g0081 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0014g0088 a0001c0001t0014g0096 a0001c0001t0018g0079 a0001c0001t0018g0080 a0001c0001t0019g0150 a0001c0001t0020g0050 a0001c0001t0020g0051 a0001c0001t0021g0108 a0001c0001t0021g0148 a0001c0001t0022g0029 a0001c0001t0022g0062 a0001c0001t0024g0114 a0001c0001t0025g0104 a0001c0001t0032g0020 a0001c0001t0035g0139 a0001c0001t0036g0078 a0001c0001t0039g0106 a0001c0001t0040g0015 a0001c0001t0042g0012 a0001c0001t0043g0107 a0001c0001t0044g0143 a0001c0001t0045g0181 a0001c0001t0049g0016 a0001c0001t0050g0031 a0001c0001t0054g0163 a0001c0001t0055g0146 a0001c0001t0056g0183 a0001c0001t0058g0179 a0001c0001t0059g0018 a0001c0001t0060g0013 a0001c0001t0061g0046 a0001c0001t0062g0059 a0001c0001t0065g0127 a0001c0002t0009g0009 a0001c0002t0009g0010 a0001c0002t0009g0011 a0001c0002t0009g0034 a0001c0003t0004g0135 a0001c0004t0048g0180 a0001c0005t0010g0178 a0001c0007t0002g0177	108	196	0.5510	18	c.-8- others(35): Show c.-8-19167_-8-19150dupATATATACTCATATATAC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3423778	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	196	0.0051	18	c.-8- others(35): Show c.-8-28200_-8-28183dupATATATATATATATATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505256	A A	ATATATTT others(11): Show ATATATTTATATATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0109 a0001c0001t0027g0109	1	196	0.0051	18	c.-9+ others(35): Show c.-9+20473_-9+20490dupCATATATATATAAATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3505325	T T	TAAAATAT others(11): Show TAAAATATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04115.hp2 NA21309.hp2 HG02615.hp1 HG04115.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0029 a0001c0001t0005 a0001c0001t0010 a0001c0001t0029	a0001c0001t0005g0169 a0001c0001t0010g0168 a0001c0001t0029g0089 a0001c0001t0005g0169 a0001c0001t0010g0168 a0001c0001t0029g0089	3	196	0.0153	18	c.-9+ others(35): Show c.-9+20421_-9+20422insTATTTTATTTTATATTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar

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