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
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(19): Show TGTGTGTGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19091.hp1 HG01074.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0249 a0001c0001t0001g0017 a0001c0001t0001g0249	2	382	0.0052	26	c.164 others(41): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	382	0.0026	26	c.164 others(41): Show c.164-138_164-137insTGTGTGTGTGTGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	382	0.0026	26	c.164 others(41): Show c.164-138_164-137insTGTGTGTGTGTGTGTGTGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0381 a0001c0001t0001g0381	1	382	0.0026	26	c.505 others(43): Show c.505-4590_505-4589insACAAAAAAAAACAAAAAAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62271445	T T	TCTTGTAA others(19): Show TCTTGTAAATTTGTTTGAGTTCTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02258.hp1 others(5): Show HG01884.hp1 HG01891.hp2 HG02258.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0188 a0001c0001t0010g0189 a0001c0001t0010g0190 others(4): Show a0001c0001t0010g0188 a0001c0001t0010g0189 a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0192 a0001c0001t0010g0193 a0001c0001t0018g0007	8	340	0.0235	26	c.276 others(45): Show c.2761-2511_2761-2510insTGCTTGTAAATTTGTTTGAGTTCTTT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37653417	C C	CTCAATAT others(19): Show CTCAATATTCAATACAAGTATTGAATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG03471.hp1 HG02572.hp2 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0135 a0001c0001t0012g0141 a0001c0001t0012g0291 a0001c0001t0012g0135 a0001c0001t0012g0141 a0001c0001t0012g0291	3	324	0.0093	26	c.89- others(41): Show c.89-3918_89-3917insTATTCAATACTTGTATTGAATATTGA	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELN_chr7_103466789_103994658	103494365	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01928.hp2 HG01192.hp1 HG01928.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0074 a0002c0009t0001g0131 a0002c0009t0001g0074 a0002c0009t0001g0131	2	184	0.0109	26	c.936 others(45): Show c.9369+1332_9369+1357dupCACACACACACACACACACACACACA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103725467	C C	CTGAGGCA others(19): Show CTGAGGCAGGAGGCTGAGGTGGGAGGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00609.hp1 others(49): Show HG00408.hp2 HG00558.hp2 HG00609.hp1 HG01169.hp2 HG01255.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp2 HG02965.hp1 HG03041.hp1 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp2 NA18966.hp1 NA18986.hp1 NA18998.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0006 a0007 a0010 a0011 a0014 a0025 a0026 a0029 a0031	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0018 a0001c0024 a0001c0040 a0001c0049 a0001c0050 a0001c0051 a0001c0068 a0003c0016 a0003c0027 a0003c0076 a0004c0017 a0005c0082 a0006c0013 a0007c0012 a0010c0034 a0011c0045 a0014c0033 a0025c0086 a0026c0042 a0029c0061 a0031c0053	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(35): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0001 a0001c0008t0001 a0001c0011t0002 a0001c0018t0001 a0001c0024t0001 a0001c0040t0001 a0001c0049t0002 a0001c0050t0002 a0001c0051t0010 a0001c0068t0002 a0003c0016t0001 a0003c0027t0001 a0003c0076t0002 a0004c0017t0001 a0005c0082t0001 a0006c0013t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0010c0034t0001 a0011c0045t0001 a0014c0033t0001 a0025c0086t0001 a0026c0042t0001 a0029c0061t0001 a0031c0053t0001	a0001c0001t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(49): Show a0001c0001t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0099 a0001c0002t0001g0101 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0002g0015 a0001c0003t0001g0093 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0117 a0001c0003t0002g0012 a0001c0003t0003g0175 a0001c0003t0005g0180 a0001c0004t0001g0051 a0001c0004t0001g0092 a0001c0004t0005g0179 a0001c0005t0001g0044 a0001c0005t0001g0145 a0001c0005t0002g0009 a0001c0005t0007g0118 a0001c0006t0001g0082 a0001c0006t0001g0087 a0001c0008t0001g0114 a0001c0011t0002g0014 a0001c0018t0001g0059 a0001c0024t0001g0058 a0001c0024t0001g0072 a0001c0040t0001g0078 a0001c0049t0002g0023 a0001c0050t0002g0003 a0001c0051t0010g0178 a0001c0068t0002g0025 a0003c0016t0001g0098 a0003c0016t0001g0135 a0003c0027t0001g0095 a0003c0027t0001g0146 a0003c0076t0002g0028 a0004c0017t0001g0122 a0005c0082t0001g0156 a0006c0013t0001g0126 a0006c0013t0002g0022 a0007c0012t0001g0070 a0007c0012t0002g0006 a0010c0034t0001g0089 a0011c0045t0001g0043 a0014c0033t0001g0054 a0025c0086t0001g0154 a0026c0042t0001g0116 a0029c0061t0001g0060 a0031c0053t0001g0104	52	184	0.2826	26	c.754 others(43): Show c.754-2277_754-2276insTCCTCCCACCTCAGCCTCCTGCCTCA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	7/64			chr7	TogoVar
RELT_chr11_73371399_73402474	73377269	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0145 a0001c0001t0005g0146	2	340	0.0059	26	c.-26 others(41): Show c.-26+794_-26+795insGTGTGTGTGTGTGTGTGTGTGTGTGT	RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
REM1_chr20_31470288_31489895	31486395	G G	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	344	0.0029	26	c.19 others(37): Show c.1965_*1966insAGAGAGAGAGAGAGAGAGAGAGAGAC	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1501		chr20	TogoVar
REM1_chr20_31470288_31489895	31486407	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	344	0.0029	26	c.19 others(37): Show c.1977_*1978insAGAGAGAGAGAGAGAGAGAGAGAGAG	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		1513		chr20	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01168.hp1 HG01169.hp2 HG00558.hp1 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0292 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0292	3	390	0.0077	26	c.153 others(45): Show c.153+18235_153+18260dupAAAAAAAAAAAAAAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17059920	A A	AAGTCTCC others(19): Show AAGTCTCCTTTTGATAGTTTCATCAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01069.hp1 others(47): Show HG00438.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG01433.hp1 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02145.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02922.hp1 HG03130.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18946.hp1 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18971.hp1 NA18998.hp1 NA19058.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19091.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026	a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0078 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0078 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0004g0035 a0001c0001t0004g0044 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0092 a0001c0001t0004g0100 a0001c0001t0004g0114 a0001c0001t0007g0109 a0001c0001t0007g0118 a0001c0001t0011g0124 a0001c0001t0012g0120 a0001c0001t0015g0019 a0001c0001t0016g0020 a0001c0001t0018g0057 a0001c0001t0026g0108	50	166	0.3012	26	c.111 others(45): Show c.1115-2466_1115-2441dupGAGTCTCCTTTTGATAGTTTCATCAA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17059972	G G	GAGTCTCC others(19): Show GAGTCTCCTTTTGATAGTTTCATCAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp1 others(92): Show HG00280.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02698.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18965.hp1 NA18967.hp1 NA18974.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19068.hp1 NA19072.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008	a0001c0001 a0001c0003 a0001c0010 others(6): Show a0001c0001 a0001c0003 a0001c0010 a0002c0006 a0003c0007 a0004c0009 a0006c0002 a0007c0008 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0003t0001 a0001c0010t0001 a0002c0006t0005 a0003c0007t0001 a0004c0009t0001 a0006c0002t0001 a0007c0008t0001 a0008c0005t0024	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0130 a0001c0001t0005g0029 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0086 a0001c0001t0008g0021 a0001c0001t0008g0046 a0001c0001t0009g0136 a0001c0001t0009g0141 a0001c0001t0010g0139 a0001c0001t0010g0140 a0001c0001t0013g0030 a0001c0001t0019g0101 a0001c0001t0020g0045 a0001c0001t0021g0151 a0001c0001t0023g0026 a0001c0001t0027g0115 a0001c0003t0001g0055 a0001c0010t0001g0027 a0002c0006t0005g0032 a0003c0007t0001g0060 a0004c0009t0001g0063 a0006c0002t0001g0038 a0007c0008t0001g0090 a0008c0005t0024g0148	95	166	0.5723	26	c.111 others(45): Show c.1115-2444_1115-2419dupTCAAAAGTCTCCTTTTGATAGTTTCA	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401241	T T	TTCCCCTC others(19): Show TTCCCCTCCCTCCTTCCTCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(22): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG01069.hp2 HG01261.hp2 HG01516.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02602.hp1 HG02683.hp1 HG02970.hp2 HG03209.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 NA18946.hp2 NA18955.hp1 NA19007.hp1 NA19066.hp2 NA19079.hp2 NA19082.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0034 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0148 a0001c0001t0006g0003 a0001c0001t0006g0032	25	354	0.0706	26	c.365 others(41): Show c.365+309_365+310insCCTCCCTCCTTCCTCCCTCCTCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401381	C C	CTTCCTCC others(19): Show CTTCCTCCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	354	0.0028	26	c.365 others(41): Show c.365+447_365+448insTCCTCCCTCCCTCCTCCTCCCTCCTT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2401391	C C	CTTCCTCC others(19): Show CTTCCTCCCTCCCTCCTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18990.hp1 NA19064.hp2 others(1): Show HG04228.hp1 NA18990.hp1 NA19064.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0006 a0001c0001t0005g0015 a0001c0001t0005g0136 others(1): Show a0001c0001t0005g0006 a0001c0001t0005g0015 a0001c0001t0005g0136 a0001c0001t0022g0006	4	354	0.0113	26	c.365 others(41): Show c.365+457_365+458insTCCTCCCTCCCTCCTCCTCCCTCCTT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8372507	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG02698.hp2 others(3): Show HG01361.hp2 HG01433.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006	a0001c0001t0006 a0001c0002t0005 a0001c0002t0028 others(2): Show a0001c0001t0006 a0001c0002t0005 a0001c0002t0028 a0001c0004t0003 a0002c0006t0003	a0001c0001t0006g0170 a0001c0002t0005g0130 a0001c0002t0005g0134 others(3): Show a0001c0001t0006g0170 a0001c0002t0005g0130 a0001c0002t0005g0134 a0001c0002t0028g0133 a0001c0004t0003g0092 a0002c0006t0003g0139	6	204	0.0294	26	c.128 others(45): Show c.1285-6559_1285-6534dupACACACACACACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8386022	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	204	0.0049	26	c.128 others(47): Show c.1285-20049_1285-20048insAAAAAATATATATATATATATATA TA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8400222	A A	ATATGTGT others(19): Show ATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	204	0.0049	26	c.128 others(47): Show c.1284+22504_1284+22505insCACACACACACACACACACACACA TA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0022 a0001c0003t0012g0022	1	204	0.0049	26	c.128 others(47): Show c.1284+21663_1284+21688dupATATATATATATATATATATATAT AT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8401069	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG02293.hp1 others(2): Show HG01433.hp2 HG01496.hp1 HG02293.hp1 HG04228.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0016 a0001c0004t0005 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0004t0005 a0001c0004t0006 a0001c0004t0025	a0001c0001t0003g0088 a0001c0001t0016g0054 a0001c0004t0005g0083 others(2): Show a0001c0001t0003g0088 a0001c0001t0016g0054 a0001c0004t0005g0083 a0001c0004t0006g0146 a0001c0004t0025g0080	5	204	0.0245	26	c.128 others(47): Show c.1284+21657_1284+21658insCATATATATATATATATATATATA TA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	204	0.0049	26	c.831 others(43): Show c.831-3365_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(19): Show GAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19043.hp1 NA19007.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0006 a0001c0001t0003 a0001c0004t0006	a0001c0001t0003g0100 a0001c0004t0006g0146 a0001c0001t0003g0100 a0001c0004t0006g0146	2	204	0.0098	26	c.831 others(43): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GGAAAAAA others(19): Show GGAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0128 a0001c0002t0005g0128	1	204	0.0049	26	c.831 others(43): Show c.831-7553_831-7552insTTTTTTTTTTTTTTTTTTTTTTTTTC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8607534	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0007 a0009c0031t0007	a0009c0031t0007g0025 a0009c0031t0007g0025	1	204	0.0049	26	c.522 others(43): Show c.522+7001_522+7026dupAAAAAAAAAAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0130 a0001c0002t0005g0130	1	204	0.0049	26	c.-14 others(47): Show c.-145+27858_-145+27859insATATATTTTTTTTTTTTTTTTTTT TT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0195 a0001c0001t0038g0195	1	204	0.0049	26	c.-14 others(47): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8809157	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	204	0.0049	26	c.-14 others(45): Show c.-145+8002_-145+8003insATTTTTTTTTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15126128	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18962.hp2 HG03942.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0255 a0001c0002t0001g0191 a0001c0002t0001g0255	2	300	0.0067	26	c.62- others(41): Show c.62-5010_62-5009insATATATATATATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905326	A A	ATAATATA others(19): Show ATAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0034	1	408	0.0025	26	c.-28 others(37): Show c.-2897_-2896insTAATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATACA others(19): Show AATATACATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0092 a0001c0001t0022g0092	1	408	0.0025	26	c.-28 others(37): Show c.-2894_-2893insATATACATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG03831.hp2 HG04204.hp2 others(6): Show HG02897.hp2 HG03831.hp2 HG04204.hp2 HG04228.hp1 NA18952.hp2 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18994.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0005c0005t0003	a0001c0001t0003g0033 a0001c0001t0003g0052 a0001c0001t0003g0150 others(6): Show a0001c0001t0003g0033 a0001c0001t0003g0052 a0001c0001t0003g0150 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0006g0003 a0001c0001t0006g0171 a0001c0001t0010g0004 a0005c0005t0003g0051	9	408	0.0221	26	c.-28 others(37): Show c.-2894_-2893insATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	408	0.0025	26	c.-28 others(37): Show c.-2876_-2875insATATATATATATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18989.hp2 NA18939.hp2 NA18989.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0197 a0004c0004t0005g0208 a0004c0004t0005g0197 a0004c0004t0005g0208	2	408	0.0049	26	c.-28 others(37): Show c.-2875_-2874insTATATATATATATATATATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETN_chr19_7664049_7675455	7674859	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	458	0.0022	26	c.45 others(37): Show c.4510_*4511insTTTTTTTTTTTTTTTTTTTTTTTTTT	RETN	ENSG00000104918.8	transcript	ENST00000221515.6	protein_coding		4405		chr19	TogoVar
REV1_chr2_99395477_99495017	99429747	A A	AAATCACT others(19): Show AAATCACTGGCCTGACTGGCAGGTCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01070.hp2 others(70): Show HG00609.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp1 NA18962.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(8): Show a0001c0001 a0002c0002 a0003c0003 a0003c0006 a0003c0010 a0003c0014 a0004c0004 a0004c0019 a0008c0015 a0010c0012 a0011c0024	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(10): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0010 a0003c0003t0001 a0003c0006t0001 a0003c0010t0001 a0003c0014t0006 a0004c0004t0001 a0004c0019t0001 a0008c0015t0001 a0010c0012t0001 a0011c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0001t0001g0135 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0260 a0002c0002t0001g0274 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0310 a0002c0002t0003g0232 a0002c0002t0010g0321 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0093 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0106 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0200 a0003c0006t0001g0210 a0003c0006t0001g0211 a0003c0006t0001g0212 a0003c0010t0001g0109 a0003c0014t0006g0130 a0004c0004t0001g0007 a0004c0004t0001g0009 a0004c0004t0001g0010 a0004c0004t0001g0011 a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0018 a0004c0004t0001g0022 a0004c0004t0001g0023 a0004c0004t0001g0024 a0004c0004t0001g0027 a0004c0004t0001g0029 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0037 a0004c0004t0001g0039 a0004c0004t0001g0045 a0004c0004t0001g0047 a0004c0019t0001g0034 a0008c0015t0001g0127 a0010c0012t0001g0115 a0011c0024t0001g0311	73	324	0.2253	26	c.154 others(41): Show c.1547+92_1547+93insCAGACCTGCCAGTCAGGCCAGTGATT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	9/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111422665	T T	TATATATA others(19): Show TATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	288	0.0035	26	c.140 others(43): Show c.140-6194_140-6193insGTATATATATATATGTATATATATAT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
REV3L_chr6_111294033_111488218	111486292	T T	TAGGTGGA others(19): Show TAGGTGGAGGCGGGGGGGTGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0161 a0002c0002t0001g0161	1	288	0.0035	26	c.-34 others(37): Show c.-3405_-3404insCCCCCCCCACCCCCCCGCCTCCACCT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding		3075		chr6	TogoVar
REXO5_chr16_20801527_20854665	20820512	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19058.hp1 NA18992.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	372	0.0054	26	c.476 others(43): Show c.476-1242_476-1217dupATATATATATATATATATATATATAT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	372	0.0027	26	c.476 others(43): Show c.476-1217_476-1216insATATATATATATATATATATATATTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC3_chr13_33813149_33842500	33834329	T T	TATATATA others(19): Show TATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG01255.hp1 others(10): Show HG00642.hp2 HG01192.hp1 HG01255.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02300.hp1 HG02735.hp2 HG02886.hp2 HG03139.hp2 HG03195.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0019 a0001c0001t0002g0066 a0001c0001t0002g0068 others(6): Show a0001c0001t0002g0019 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0005g0042	13	416	0.0313	26	c.810 others(41): Show c.810-817_810-816insATATATATATATATATACACATACAT	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
RFC5_chr12_118011703_118037234	118034574	G G	GCTCTCTC others(19): Show GCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG01993.hp2 others(3): Show HG00140.hp2 HG00673.hp1 HG01993.hp2 HG03688.hp1 NA18946.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0077	6	438	0.0137	26	c.32 others(37): Show c.3296_*3297insCTCTCTCTCTCTCTCTCTCTCTCTCT	RFC5	ENSG00000111445.14	transcript	ENST00000454402.7	protein_coding		2341		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0035 a0008c0012t0035	a0008c0012t0035g0138 a0008c0012t0035g0138	1	388	0.0026	26	c.207 others(41): Show c.207+489_207+490insTTCTTTCTTTCTTTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16387570	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG06807.hp1 NA18949.hp1 HG03540.hp2 HG06807.hp1 NA18949.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0004 a0007c0008 a0001c0001 a0003c0004 a0007c0008	a0001c0001t0001 a0003c0004t0001 a0007c0008t0001 a0001c0001t0001 a0003c0004t0001 a0007c0008t0001	a0001c0001t0001g0225 a0003c0004t0001g0031 a0007c0008t0001g0028 a0001c0001t0001g0225 a0003c0004t0001g0031 a0007c0008t0001g0028	3	268	0.0112	26	c.442 others(43): Show c.442-9494_442-9469dupGAGAGAGAGAGAGAGAGAGAGAGAGA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16404013	T T	TATATAAT others(19): Show TATATAATATATAATATATATTTTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01192.hp1 HG01952.hp1 others(18): Show HG00609.hp2 HG01192.hp1 HG01952.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04204.hp1 NA18962.hp2 NA19010.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0005t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0012	a0001c0001t0001g0098 a0001c0001t0001g0140 a0001c0001t0001g0189 others(18): Show a0001c0001t0001g0098 a0001c0001t0001g0140 a0001c0001t0001g0189 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0248 a0001c0002t0001g0113 a0001c0002t0002g0023 a0001c0002t0002g0200 a0001c0002t0002g0215 a0001c0002t0002g0218 a0001c0002t0002g0257 a0001c0005t0001g0116 a0002c0003t0003g0095 a0002c0003t0003g0100 a0002c0003t0003g0101 a0002c0003t0003g0253 a0002c0003t0004g0168 a0002c0003t0004g0171 a0002c0003t0012g0052	21	268	0.0784	26	c.441 others(43): Show c.441+5361_441+5362insTATAAAATATATATTATATATTATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN2_chr2_197563224_197680587	197678504	T T	TTAAGGAA others(19): Show TTAAGGAATTATTTTTACCTTTAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0180 a0001c0001t0005g0180	1	312	0.0032	26	c.-30 others(37): Show c.-3047_-3046insTTCCTAAAGGTAAAAATAATTCCTTA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding		2918		chr2	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(19): Show GATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	308	0.0033	26	c.-8- others(43): Show c.-8-22753_-8-22728dupTCCATCCCATCCACATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6107616	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	308	0.0033	26	c.-9+ others(41): Show c.-9+2751_-9+2776dupTTTTTTTTTTTTTTTTTTTTTTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3410161	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0004	1	196	0.0051	26	c.-8- others(43): Show c.-8-14591_-8-14566dupCACACACACACACACACACACACACA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar

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