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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RECK_chr9_36031913_36129455	36073223	CACACACA others(11): Show CACACACAGACACACACAG	C C	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0264 a0002c0005t0001g0264	1	392	0.0026	-18	c.406 others(35): Show c.406-7374_406-7357delGACACACACAGACACACA		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36099224	TCAACAAC others(11): Show TCAACAACAACAACAACAA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18942.hp2 NA18950.hp1 others(5): Show HG06807.hp1 NA18942.hp2 NA18950.hp1 NA18994.hp1 NA19002.hp2 NA19060.hp2 NA19072.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0226 a0001c0001t0001g0301 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0226 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327	8	392	0.0204	-18	c.108 others(37): Show c.1086-1077_1086-1060delACAACAACAACAACAACA		RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	10/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
REELD1_chr4_146209538_146237267	146214474	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01993.hp2 HG02300.hp1 HG00323.hp2 HG01993.hp2 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0063 a0002c0002t0003g0004 a0002c0002t0003g0063	3	434	0.0069	-18	c.-35 others(27): Show c.-354_-337delTGTGTGTGTGTGTGTGTA		REELD1	ENSG00000250673.3	transcript	ENST00000623665.2	protein_coding					63		chr4	TogoVar
REEP1_chr2_86208993_86342626	86226075	TCACCACC others(11): Show TCACCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0017 a0001c0002t0026g0017	1	320	0.0031	-18	c.631 others(35): Show c.631+1270_631+1287delGTGGTGGTGGTGGTGGTG		REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8						chr2	TogoVar
REEP1_chr2_86208993_86342626	86330414	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02572.hp2 others(5): Show HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG03209.hp2 HG03579.hp2 NA18950.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0018 a0001c0001t0020 a0001c0001t0039 a0003c0005t0006	a0001c0001t0003g0302 a0001c0001t0005g0036 a0001c0001t0006g0158 others(5): Show a0001c0001t0003g0302 a0001c0001t0005g0036 a0001c0001t0006g0158 a0001c0001t0018g0156 a0001c0001t0020g0157 a0001c0001t0039g0155 a0003c0005t0006g0154 a0003c0005t0006g0159	8	320	0.0250	-18	c.32+ others(33): Show c.32+7047_32+7064delACACACACACACACACAC		REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8						chr2	TogoVar
REEP3_chr10_63516401_63630128	63556616	TTTTTTTT others(11): Show TTTTTTTTTTGTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp1 others(70): Show HG00099.hp2 HG00280.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02155.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18949.hp1 NA18957.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19074.hp2 NA19082.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0061 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0004c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0133 others(70): Show a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0138 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0132 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0228 a0001c0001t0004g0146 a0001c0001t0005g0008 a0001c0001t0005g0136 a0001c0001t0005g0153 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0192 a0001c0001t0005g0230 a0001c0001t0005g0233 a0001c0001t0005g0268 a0001c0001t0009g0021 a0001c0001t0009g0137 a0001c0001t0009g0151 a0001c0001t0009g0171 a0001c0001t0009g0177 a0001c0001t0011g0122 a0001c0001t0011g0191 a0001c0001t0018g0011 a0001c0001t0019g0232 a0001c0001t0029g0203 a0001c0001t0034g0053 a0001c0001t0035g0012 a0001c0001t0061g0130 a0001c0001t0072g0181 a0001c0001t0074g0154 a0001c0001t0075g0145 a0001c0001t0076g0026 a0004c0005t0001g0175	73	284	0.2570	-18	c.33- others(33): Show c.33-9712_33-9695delGTTGTTTTGTTTTTTTTT		REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112897350	ATCACACA others(11): Show ATCACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0192 a0001c0001t0014g0192	1	340	0.0029	-18	c.351 others(35): Show c.351+5012_351+5029delGTGTGTGTGTGTGTGTGA		REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4						chr5	TogoVar
REG1A_chr2_79115488_79128409	79119187	GATATATA others(11): Show GATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01255.hp1 HG01884.hp1 others(16): Show HG00738.hp1 HG01255.hp1 HG01884.hp1 HG01975.hp1 HG02040.hp1 HG02280.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03579.hp2 HG03704.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0002 a0001c0001t0002g0008	19	452	0.0420	-18	c.-13 others(29): Show c.-1373_-1356delATATATATATATATATAT		REG1A	ENSG00000115386.6	transcript	ENST00000233735.2	protein_coding					1300		chr2	TogoVar
RELB_chr19_44996464_45043192	45011793	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	382	0.0026	-18	c.164 others(33): Show c.164-141_164-124delTGTGAGAGAGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011795	TGTGAGAG others(11): Show TGTGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02683.hp2 HG02818.hp1 others(1): Show HG01109.hp2 HG02683.hp2 HG02818.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0272	4	382	0.0105	-18	c.164 others(33): Show c.164-139_164-122delTGAGAGAGAGAGAGAGAG		RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62253267	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0126 a0001c0001t0019g0126	1	340	0.0029	-18	c.182 others(35): Show c.1824+541_1824+558delGTGTGTGTGTGTGTGTGT		RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr18	TogoVar
RELN_chr7_103466789_103994658	103544220	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03098.hp1 HG03130.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0004 a0001c0020t0001 a0001c0020t0004	a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0020t0001g0068 a0001c0020t0004g0162	2	184	0.0109	-18	c.652 others(35): Show c.6523+886_6523+903delAAAAAAAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	42/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103554338	GGCCCAAG others(11): Show GGCCCAAGATGGGCAGATT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG02258.hp1 others(15): Show HG01081.hp2 HG01169.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18998.hp2 NA19064.hp2 NA19240.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0009 a0017 a0022 a0023 a0024 a0030	a0001c0002 a0001c0005 a0001c0008 others(11): Show a0001c0002 a0001c0005 a0001c0008 a0001c0011 a0001c0057 a0001c0068 a0002c0014 a0006c0013 a0009c0025 a0017c0036 a0022c0046 a0023c0035 a0024c0037 a0030c0077	a0001c0002t0011 a0001c0005t0007 a0001c0008t0008 others(12): Show a0001c0002t0011 a0001c0005t0007 a0001c0008t0008 a0001c0011t0001 a0001c0011t0002 a0001c0057t0001 a0001c0068t0002 a0002c0014t0001 a0006c0013t0001 a0009c0025t0006 a0017c0036t0001 a0022c0046t0004 a0023c0035t0001 a0024c0037t0006 a0030c0077t0001	a0001c0002t0011g0177 a0001c0005t0007g0109 a0001c0005t0007g0118 others(15): Show a0001c0002t0011g0177 a0001c0005t0007g0109 a0001c0005t0007g0118 a0001c0008t0008g0001 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0057t0001g0112 a0001c0068t0002g0025 a0002c0014t0001g0064 a0006c0013t0001g0126 a0009c0025t0006g0039 a0009c0025t0006g0040 a0017c0036t0001g0121 a0022c0046t0004g0161 a0023c0035t0001g0148 a0024c0037t0006g0107 a0030c0077t0001g0048	18	184	0.0978	-18	c.579 others(35): Show c.5798-525_5798-508delAATCTGCCCATCTTGGGC		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	38/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103677405	TATAATAA others(11): Show TATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0016 a0001c0044t0016	a0001c0044t0016g0035 a0001c0044t0016g0035	1	184	0.0054	-18	c.128 others(37): Show c.1289+4693_1289+4710delTATTATTATTATTATTAT		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	11/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103849512	GTAGGTCT others(11): Show GTAGGTCTAAATTTCCTCA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0076 a0028c0032t0001g0076	1	184	0.0054	-18	c.338 others(37): Show c.338-15858_338-15841delTGAGGAAATTTAGACCTA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103926627	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01081.hp1 others(59): Show HG00438.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01891.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18952.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18979.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18998.hp2 NA19002.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0020 a0022 a0023 a0025 a0027 a0030	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0024 a0001c0049 a0001c0067 a0001c0070 a0001c0073 a0002c0014 a0002c0015 a0002c0021 a0002c0031 a0003c0016 a0003c0027 a0004c0017 a0005c0082 a0006c0013 a0007c0012 a0008c0047 a0010c0034 a0010c0063 a0011c0045 a0013c0054 a0014c0033 a0015c0071 a0016c0062 a0017c0036 a0020c0074 a0022c0046 a0023c0035 a0025c0086 a0027c0072 a0030c0077	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0003 a0001c0008t0001 a0001c0011t0001 a0001c0018t0001 a0001c0019t0001 a0001c0019t0002 a0001c0020t0001 a0001c0020t0004 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0049t0002 a0001c0067t0002 a0001c0070t0017 a0001c0073t0001 a0002c0014t0001 a0002c0015t0003 a0002c0021t0001 a0002c0031t0001 a0003c0016t0001 a0003c0027t0001 a0004c0017t0004 a0005c0082t0001 a0006c0013t0002 a0007c0012t0001 a0007c0012t0002 a0008c0047t0008 a0010c0034t0001 a0010c0063t0001 a0011c0045t0001 a0013c0054t0001 a0014c0033t0001 a0015c0071t0001 a0016c0062t0002 a0017c0036t0001 a0020c0074t0002 a0022c0046t0004 a0023c0035t0001 a0025c0086t0001 a0027c0072t0001 a0030c0077t0001	a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0001t0002g0030 others(59): Show a0001c0001t0001g0045 a0001c0001t0001g0090 a0001c0001t0002g0030 a0001c0002t0001g0136 a0001c0002t0002g0015 a0001c0002t0011g0177 a0001c0003t0001g0117 a0001c0003t0003g0171 a0001c0004t0001g0091 a0001c0004t0001g0100 a0001c0005t0001g0037 a0001c0006t0001g0087 a0001c0006t0002g0027 a0001c0007t0001g0050 a0001c0007t0001g0071 a0001c0007t0001g0115 a0001c0007t0003g0172 a0001c0008t0001g0114 a0001c0011t0001g0142 a0001c0018t0001g0059 a0001c0019t0001g0069 a0001c0019t0002g0011 a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0022t0001g0102 a0001c0022t0001g0103 a0001c0023t0001g0110 a0001c0024t0001g0072 a0001c0049t0002g0023 a0001c0067t0002g0008 a0001c0070t0017g0024 a0001c0073t0001g0120 a0002c0014t0001g0064 a0002c0014t0001g0088 a0002c0014t0001g0143 a0002c0015t0003g0173 a0002c0021t0001g0113 a0002c0031t0001g0046 a0003c0016t0001g0053 a0003c0016t0001g0135 a0003c0027t0001g0095 a0003c0027t0001g0146 a0004c0017t0004g0163 a0005c0082t0001g0156 a0006c0013t0002g0018 a0007c0012t0001g0096 a0007c0012t0002g0006 a0008c0047t0008g0002 a0010c0034t0001g0089 a0010c0063t0001g0063 a0011c0045t0001g0043 a0013c0054t0001g0149 a0014c0033t0001g0054 a0015c0071t0001g0108 a0016c0062t0002g0029 a0017c0036t0001g0121 a0020c0074t0002g0026 a0022c0046t0004g0161 a0023c0035t0001g0148 a0025c0086t0001g0154 a0027c0072t0001g0125 a0030c0077t0001g0048	62	184	0.3370	-18	c.227 others(35): Show c.227-9460_227-9443delAAAAAAAAAAAAAAAAAA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
RELN_chr7_103466789_103994658	103930868	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01071.hp2 others(41): Show HG00558.hp1 HG01070.hp2 HG01071.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01891.hp1 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03453.hp1 HG03492.hp2 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18957.hp1 NA18966.hp1 NA18966.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19067.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0019 a0032 a0033 a0034 a0035	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0018 a0001c0023 a0001c0024 a0001c0026 a0001c0043 a0001c0044 a0001c0051 a0001c0068 a0002c0009 a0002c0015 a0002c0030 a0003c0076 a0003c0078 a0004c0064 a0004c0065 a0005c0081 a0005c0084 a0006c0013 a0008c0058 a0019c0059 a0032c0055 a0033c0085 a0034c0080 a0035c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(32): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0006t0003 a0001c0008t0008 a0001c0018t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0002 a0001c0043t0001 a0001c0044t0016 a0001c0051t0010 a0001c0068t0002 a0002c0009t0001 a0002c0015t0002 a0002c0030t0002 a0003c0076t0002 a0003c0078t0005 a0004c0064t0002 a0004c0065t0001 a0005c0081t0001 a0005c0084t0001 a0006c0013t0002 a0008c0058t0002 a0019c0059t0001 a0032c0055t0001 a0033c0085t0006 a0034c0080t0001 a0035c0029t0001	a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0003g0169 others(41): Show a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0004g0160 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0139 a0001c0003t0001g0106 a0001c0004t0003g0166 a0001c0005t0001g0044 a0001c0005t0001g0144 a0001c0005t0007g0109 a0001c0005t0007g0118 a0001c0006t0001g0097 a0001c0006t0003g0174 a0001c0006t0003g0176 a0001c0008t0008g0001 a0001c0018t0001g0081 a0001c0023t0001g0134 a0001c0024t0001g0058 a0001c0026t0002g0016 a0001c0043t0001g0061 a0001c0044t0016g0035 a0001c0051t0010g0178 a0001c0068t0002g0025 a0002c0009t0001g0131 a0002c0015t0002g0013 a0002c0030t0002g0031 a0003c0076t0002g0028 a0003c0078t0005g0181 a0004c0064t0002g0004 a0004c0065t0001g0147 a0005c0081t0001g0157 a0005c0084t0001g0153 a0006c0013t0002g0022 a0008c0058t0002g0020 a0019c0059t0001g0036 a0032c0055t0001g0079 a0033c0085t0006g0151 a0034c0080t0001g0155 a0035c0029t0001g0077	44	184	0.2391	-18	c.227 others(37): Show c.227-13701_227-13684delCACACACACACACACACA		RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64						chr7	TogoVar
REM1_chr20_31470288_31489895	31486392	CGAGAGAG others(11): Show CGAGAGAGAGAGAGACAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02809.hp1 others(2): Show HG02451.hp1 HG02486.hp2 HG02809.hp1 HG02970.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0072 a0002c0002t0001g0090 a0002c0002t0001g0092 others(2): Show a0002c0002t0001g0072 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0098 a0002c0002t0001g0099	5	344	0.0145	-18	c.19 others(29): Show c.1963_*1980delGAGAGAGAGAGAGACAGA		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding					1498		chr20	TogoVar
REM1_chr20_31470288_31489895	31486407	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00735.hp1 others(4): Show HG00099.hp1 HG00140.hp1 HG00735.hp1 HG01074.hp2 HG01243.hp1 HG01256.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0075	7	344	0.0204	-18	c.19 others(29): Show c.1978_*1995delAGAGAGAGAGAGAGAGAG		REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding					1513		chr20	TogoVar
REPS1_chr6_138898493_138993253	138992178	TACACACA others(11): Show TACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA21309.hp1 NA18966.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0009 a0002c0003t0004 a0001c0001t0009 a0002c0003t0004	a0001c0001t0009g0163 a0002c0003t0004g0033 a0001c0001t0009g0163 a0002c0003t0004g0033	2	390	0.0051	-18	c.-45 others(29): Show c.-4514_-4497delGTGTGTGTGTGTGTGTGT		REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding					3926		chr6	TogoVar
REPS2_chrX_16941658_17158272	16951543	ACACACAC others(11): Show ACACACACACACACACACC	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	166	0.0060	-18	c.273 others(35): Show c.273+4411_273+4428delACACACACACACACACCC		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	16953100	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01261.hp1 others(17): Show HG00280.hp1 HG00735.hp1 HG01261.hp1 HG01358.hp1 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp1 HG02293.hp2 HG03017.hp1 HG03491.hp2 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18971.hp1 NA18990.hp1 NA19007.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0007 a0001c0001 a0002c0006 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0002c0006t0005 a0003c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0076 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0164 a0001c0001t0005g0029 a0001c0001t0005g0033 a0001c0001t0005g0036 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0086 a0001c0001t0019g0101 a0002c0006t0005g0032 a0003c0007t0001g0060	20	166	0.1205	-18	c.273 others(35): Show c.273+5994_273+6011delCACACACACACACACACA		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17140735	ATATTATT others(11): Show ATATTATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show HG02258.hp1 HG02922.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0009 a0001c0001t0010	a0001c0001t0009g0136 a0001c0001t0009g0141 a0001c0001t0010g0139 others(1): Show a0001c0001t0009g0136 a0001c0001t0009g0141 a0001c0001t0010g0139 a0001c0001t0010g0140	4	166	0.0241	-18	c.191 others(37): Show c.1914+1809_1914+1826delATTATTATTATTATTATT		REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	17/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8386016	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0152 a0001c0002t0002g0152	1	204	0.0049	-18	c.128 others(39): Show c.1285-20060_1285-20043delAAAAAAAAAAAATATATA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8401038	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0009 a0001c0015t0001g0009	1	204	0.0049	-18	c.128 others(39): Show c.1284+21671_1284+21688delATATATATATATATATAT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	12/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8564826	ATGTGTAT others(11): Show ATGTGTATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0027 a0001c0004t0010 a0001c0004t0027	a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0004t0010g0107 a0001c0004t0027g0106	2	204	0.0098	-18	c.523 others(35): Show c.523-7321_523-7304delCACACACACACATACACA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8564856	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01515.hp2 HG01517.hp1 others(2): Show HG01261.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0171 a0001c0002t0002g0172 others(2): Show a0001c0002t0002g0151 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0178 a0001c0002t0002g0183	5	204	0.0245	-18	c.523 others(35): Show c.523-7351_523-7334delTATACACACACACACACA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8669024	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0142 a0001c0004t0010g0142	1	204	0.0049	-18	c.-14 others(39): Show c.-144-12601_-144-12584delCACACACACACACACACA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERE_chr1_8347404_8822640	8774951	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0181	1	204	0.0049	-18	c.-14 others(39): Show c.-145+42191_-145+42208delAAAAAAAAAAAAAAAAAA		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22						chr1	TogoVar
RERG_chr12_15102783_15226417	15133146	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02896.hp1 others(6): Show HG02258.hp2 HG02717.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0130 a0001c0001t0001g0159 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291	9	300	0.0300	-18	c.62- others(35): Show c.62-12045_62-12028delATATATATATATATATAT		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RERG_chr12_15102783_15226417	15148847	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0151 a0001c0002t0005g0151	1	300	0.0033	-18	c.62- others(35): Show c.62-27746_62-27729delAAAAAAAAAAAAAAAAAA		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RERG_chr12_15102783_15226417	15169920	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02055.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02055.hp2 HG02280.hp2 HG02559.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0063 others(3): Show a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066	6	300	0.0200	-18	c.61+ others(35): Show c.61+47491_61+47508delCACACACACACACACACA		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RERG_chr12_15102783_15226417	15175333	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	300	0.0033	-18	c.61+ others(35): Show c.61+42078_61+42095delCACACACACACACACACA		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RERG_chr12_15102783_15226417	15214023	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp1 HG00733.hp1 others(45): Show HG00408.hp1 HG00673.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp1 HG01884.hp1 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 NA18747.hp1 NA18951.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18971.hp1 NA18980.hp1 NA18988.hp2 NA19002.hp1 NA19003.hp1 NA19030.hp1 NA19076.hp2 NA19088.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 others(45): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0002g0041 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0054 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0004g0095 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0069	48	300	0.1600	-18	c.61+ others(33): Show c.61+3388_61+3405delGCGCACACACACACACAC		RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4						chr12	TogoVar
RETREG1_chr5_16468053_16621997	16489082	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	294	0.0034	-18	c.459 others(35): Show c.459-5628_459-5611delTTTTTTTTTTTTTTTTTT		RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8						chr5	TogoVar
RETREG1_chr5_16468053_16621997	16543979	TTTTTTTT others(11): Show TTTTTTTTTTTTTGGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	294	0.0034	-18	c.458 others(37): Show c.458+21766_458+21783delGTCTCCAAAAAAAAAAAA		RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8						chr5	TogoVar
RETREG2_chr2_219173275_219190475	219189146	GGTCTGTG others(11): Show GGTCTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0027 a0001c0005t0027	a0001c0005t0027g0020 a0001c0005t0027g0020	1	430	0.0023	-18	c.65 others(29): Show c.6518_*6535delGTCTGTGTGTGTGTGTGT		RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding					3672		chr2	TogoVar
RETREG3_chr17_42574515_42614374	42596359	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp2 others(82): Show HG00099.hp1 HG00140.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01074.hp1 HG01167.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18956.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19043.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19082.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp2	a0001 a0005 a0006 others(1): Show a0001 a0005 a0006 a0007	a0001c0001 a0001c0005 a0005c0010 others(2): Show a0001c0001 a0001c0005 a0005c0010 a0006c0003 a0007c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0005t0002 a0005c0010t0003 a0006c0003t0017 a0007c0006t0013	a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 others(77): Show a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0003g0175 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0011g0228 a0001c0001t0011g0260 a0001c0001t0011g0288 a0001c0001t0014g0076 a0001c0001t0018g0239 a0001c0001t0022g0323 a0001c0001t0024g0249 a0001c0001t0025g0291 a0001c0001t0027g0234 a0001c0005t0002g0242 a0005c0010t0003g0327 a0006c0003t0017g0240 a0007c0006t0013g0282	85	360	0.2361	-18	c.240 others(35): Show c.240-4215_240-4198delTTTTTTTTTTTTTTTTTT		RETREG3	ENSG00000141699.11	transcript	ENST00000309428.10	protein_coding	1/8						chr17	TogoVar
RETSAT_chr2_85336955_85359528	85344514	CCATTCCA others(11): Show CCATTCCATAACCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp1 HG03516.hp2 HG02257.hp1 HG03471.hp1 HG03516.hp2	a0001 a0012 a0001 a0012	a0001c0009 a0012c0015 a0001c0009 a0012c0015	a0001c0009t0005 a0001c0009t0013 a0012c0015t0005 a0001c0009t0005 a0001c0009t0013 a0012c0015t0005	a0001c0009t0005g0044 a0001c0009t0013g0045 a0012c0015t0005g0043 a0001c0009t0005g0044 a0001c0009t0013g0045 a0012c0015t0005g0043	3	384	0.0078	-18	c.125 others(33): Show c.1256+62_1256+79delAGCAGAGGTTATGGAATG		RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding	7/10						chr2	TogoVar
RET_chr10_43072069_43135351	43107559	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0050 a0001c0021t0001g0050	1	382	0.0026	-18	c.106 others(37): Show c.1063+1014_1063+1031delACACACACACACACACAC		RET	ENSG00000165731.21	transcript	ENST00000355710.8	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
REV1_chr2_99395477_99495017	99438988	GAGTGCAG others(11): Show GAGTGCAGTCTCTGAAATC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18979.hp1 NA18979.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0001 a0013c0021t0001	a0013c0021t0001g0273 a0013c0021t0001g0273	1	324	0.0031	-18	c.808 others(25): Show c.808_825delGATTTCAGAGACTGCACT	p.Asp others(13): Show p.Asp270_Thr275del	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	6/23	1036/4731	808/3756	270/1251			chr2	TogoVar
REV1_chr2_99395477_99495017	99454550	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0288 a0002c0002t0003g0288	1	324	0.0031	-18	c.182 others(35): Show c.182-5064_182-5047delTTTTTTTTTTTTTTTTTT		REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	3/22						chr2	TogoVar
REV3L_chr6_111294033_111488218	111303683	TTTTTTAA others(11): Show TTTTTTAACAGACTATGAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp2 NA19068.hp1 HG01496.hp1 HG02040.hp2 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0172 a0002c0002t0001g0232 a0002c0002t0001g0245 a0002c0002t0001g0172 a0002c0002t0001g0232 a0002c0002t0001g0245	3	288	0.0104	-18	c.925 others(37): Show c.9253-3545_9253-3528delGTCATAGTCTGTTAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111303701	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0264 a0002c0009t0003g0264	1	288	0.0035	-18	c.925 others(37): Show c.9253-3563_9253-3546delAAAAAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111338312	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0114 a0001c0001t0002g0115	2	288	0.0069	-18	c.753 others(37): Show c.7539-2720_7539-2703delAAAAAAAAAAAAAAAAAA		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	21/31						chr6	TogoVar
REV3L_chr6_111294033_111488218	111470174	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp2 others(140): Show HG00099.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19075.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0002 a0004 a0005 others(8): Show a0002 a0004 a0005 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0018	a0002c0002 a0002c0009 a0002c0015 others(15): Show a0002c0002 a0002c0009 a0002c0015 a0002c0022 a0002c0024 a0002c0025 a0004c0003 a0004c0023 a0005c0004 a0007c0013 a0007c0016 a0008c0011 a0011c0014 a0012c0029 a0013c0028 a0014c0026 a0015c0021 a0018c0030	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(21): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0010 a0002c0009t0001 a0002c0009t0003 a0002c0015t0001 a0002c0022t0003 a0002c0024t0003 a0002c0025t0001 a0004c0003t0003 a0004c0003t0006 a0004c0023t0003 a0005c0004t0003 a0007c0013t0001 a0007c0016t0001 a0007c0016t0008 a0008c0011t0001 a0011c0014t0001 a0012c0029t0001 a0013c0028t0001 a0014c0026t0005 a0015c0021t0001 a0018c0030t0001	a0002c0002t0001g0004 a0002c0002t0001g0149 a0002c0002t0001g0150 others(140): Show a0002c0002t0001g0004 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0003g0211 a0002c0002t0007g0186 a0002c0002t0010g0286 a0002c0009t0001g0108 a0002c0009t0003g0110 a0002c0009t0003g0250 a0002c0009t0003g0251 a0002c0009t0003g0252 a0002c0009t0003g0253 a0002c0009t0003g0264 a0002c0015t0001g0217 a0002c0015t0001g0218 a0002c0022t0003g0249 a0002c0024t0003g0254 a0002c0025t0001g0109 a0004c0003t0003g0005 a0004c0003t0003g0016 a0004c0003t0003g0017 a0004c0003t0003g0018 a0004c0003t0003g0019 a0004c0003t0003g0020 a0004c0003t0003g0022 a0004c0003t0003g0024 a0004c0003t0003g0025 a0004c0003t0003g0026 a0004c0003t0003g0027 a0004c0003t0006g0015 a0004c0023t0003g0021 a0005c0004t0003g0255 a0005c0004t0003g0256 a0005c0004t0003g0257 a0005c0004t0003g0258 a0005c0004t0003g0259 a0005c0004t0003g0260 a0005c0004t0003g0261 a0005c0004t0003g0262 a0005c0004t0003g0265 a0005c0004t0003g0266 a0007c0013t0001g0124 a0007c0013t0001g0125 a0007c0013t0001g0132 a0007c0016t0001g0122 a0007c0016t0008g0123 a0008c0011t0001g0155 a0008c0011t0001g0207 a0008c0011t0001g0208 a0008c0011t0001g0209 a0011c0014t0001g0121 a0011c0014t0001g0126 a0012c0029t0001g0148 a0013c0028t0001g0203 a0014c0026t0005g0023 a0015c0021t0001g0284 a0018c0030t0001g0227	143	288	0.4965	-18	c.139 others(37): Show c.139+12558_139+12575delTGTGTGTGTGTGTGTGTG		REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31						chr6	TogoVar
REXO4_chr9_133401062_133423010	133408934	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp2 HG02886.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0159 a0001c0001t0001g0160	2	428	0.0047	-18	c.100 others(34): Show c.1000-110_1000-93delCACACACACACACACACA		REXO4	ENSG00000148300.12	transcript	ENST00000371942.8	protein_coding	5/7						chr9	TogoVar
REXO5_chr16_20801527_20854665	20820530	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	372	0.0027	-18	c.476 others(35): Show c.476-1230_476-1213delATATATATATATATTTTT		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820532	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	372	0.0027	-18	c.476 others(35): Show c.476-1228_476-1211delATATATATATATTTTTTT		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820534	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01515.hp1 others(15): Show HG00558.hp2 HG00673.hp1 HG01515.hp1 HG01952.hp2 HG02148.hp2 HG02630.hp2 NA18954.hp1 NA18965.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp1 NA18989.hp2 NA18990.hp1 NA19002.hp2 NA19005.hp1 NA19012.hp1 NA19072.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0063 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0303 a0001c0001t0001g0304	18	372	0.0484	-18	c.476 others(35): Show c.476-1226_476-1209delATATATATATTTTTTTTT		REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr16	TogoVar

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