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
RELN_chr7_103466789_103994658	103614593	G G	GACTGTGG others(10): Show GACTGTGGAACAGAAACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp1 HG03130.hp1 others(1): Show HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03516.hp1	a0001 a0022 a0025 a0001 a0022 a0025	a0001c0001 a0001c0020 a0022c0043 others(1): Show a0001c0001 a0001c0020 a0022c0043 a0025c0083	a0001c0001t0013 a0001c0020t0004 a0022c0043t0004 others(1): Show a0001c0001t0013 a0001c0020t0004 a0022c0043t0004 a0025c0083t0001	a0001c0001t0013g0164 a0001c0020t0004g0162 a0022c0043t0004g0161 others(1): Show a0001c0001t0013g0164 a0001c0020t0004g0162 a0022c0043t0004g0161 a0025c0083t0001g0154	4	182	0.0220	17	c.270 others(36): Show c.2703-2791_2703-2790insTGTTTCTGTTCCACAGT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	20/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103835954	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0006 a0001c0005t0002g0006	1	112	0.0089	17	c.338 others(34): Show c.338-2299_338-2283dupAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	2/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103977310	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	35	0.0286	17	c.226 others(36): Show c.226+11804_226+11820dupTTTTTTTTTTTTTTTTT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
REM2_chr14_22878222_22892678	22888841	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	5	0.2000	17	c.19 others(28): Show c.1932_*1933insAAAAAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1164		chr14	TogoVar
REM2_chr14_22878222_22892678	22888998	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(27): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG00738.hp1 HG01099.hp2 HG01168.hp1 HG01255.hp1 HG01496.hp2 HG01516.hp2 HG02015.hp1 HG02080.hp2 HG02135.hp1 HG02698.hp2 HG03239.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 NA18956.hp2 NA18978.hp1 NA18982.hp1 NA18997.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19064.hp2 NA19084.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0032	30	79	0.3797	17	c.20 others(28): Show c.2089_*2090insAAAAAAAAAAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1321		chr14	TogoVar
REPS1_chr6_138898493_138993253	138907313	A A	AAGTGTGT others(10): Show AAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02486.hp1 HG02647.hp2 others(6): Show HG01433.hp2 HG02486.hp1 HG02647.hp2 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18966.hp1 NA18977.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0004 a0001c0001t0002 a0002c0003t0004	a0001c0001t0002g0078 a0001c0001t0002g0094 a0002c0003t0004g0021 others(6): Show a0001c0001t0002g0078 a0001c0001t0002g0094 a0002c0003t0004g0021 a0002c0003t0004g0025 a0002c0003t0004g0026 a0002c0003t0004g0027 a0002c0003t0004g0034 a0002c0003t0004g0041 a0002c0003t0004g0043	9	97	0.0928	17	c.232 others(34): Show c.2322+181_2322+182insACACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	19/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138955457	A A	AAGTGTGT others(10): Show AAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00544.hp2 others(24): Show HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp2 HG01074.hp2 HG01891.hp2 HG01993.hp2 HG02015.hp1 HG02129.hp2 HG02293.hp1 HG02615.hp2 HG03098.hp2 HG03942.hp2 HG04199.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18978.hp2 NA18979.hp2 NA18992.hp2 NA18995.hp2 NA19004.hp1 NA19006.hp1 NA19057.hp2 NA19060.hp2 NA19087.hp1 NA20129.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0006 a0011c0014 a0001c0001 a0004c0006 a0011c0014	a0001c0001t0001 a0001c0001t0011 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0025 a0004c0006t0001 a0011c0014t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(24): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0011g0265 a0001c0001t0025g0216 a0004c0006t0001g0136 a0011c0014t0001g0276	27	87	0.3103	17	c.154 others(34): Show c.154-7545_154-7544insACACACACACACACACT	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS1_chr6_138898493_138993253	138969269	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04199.hp1 NA19012.hp2 HG02698.hp1 HG04199.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0247	3	51	0.0588	17	c.153 others(36): Show c.153+18244_153+18260dupAAAAAAAAAAAAAAAAA	REPS1	ENSG00000135597.19	transcript	ENST00000450536.7	protein_coding	1/19			chr6	TogoVar
REPS2_chrX_16941658_17158272	17093200	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02109.hp1 HG02293.hp1 others(7): Show HG02040.hp1 HG02109.hp1 HG02293.hp1 HG02300.hp2 HG03098.hp1 HG03453.hp2 HG03710.hp1 NA18962.hp1 NA18998.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0040 others(7): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0040 a0001c0001t0002g0068 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0006g0118 a0001c0001t0008g0022	10	113	0.0885	17	c.151 others(38): Show c.1517-10518_1517-10517insTATATATATATATATAT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	13/17			chrX	TogoVar
RER1_chr1_2386841_2410436	2393801	C C	CTGTGTTT others(10): Show CTGTGTTTGGTATACGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04184.hp1 HG00621.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0052 a0001c0001t0002g0059	2	352	0.0057	17	c.-8+ others(32): Show c.-8+1862_-8+1878dupGTGTTTGGTATACGTGT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RER1_chr1_2386841_2410436	2398437	G G	GGAGTGCA others(10): Show GGAGTGCAGTGGCCTGAT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	352	0.0028	17	c.187 others(32): Show c.187-977_187-961dupGAGTGCAGTGGCCTGAT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8501519	C C	CCCCCGCC others(10): Show CCCCCGCCTGGCCAGCCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03195.hp2 others(1): Show HG02145.hp1 HG02970.hp2 HG03195.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0009 a0001c0019 others(1): Show a0001c0004 a0001c0009 a0001c0019 a0008c0020	a0001c0004t0040 a0001c0009t0041 a0001c0019t0014 others(1): Show a0001c0004t0040 a0001c0009t0041 a0001c0019t0014 a0008c0020t0039	a0001c0004t0040g0199 a0001c0009t0041g0198 a0001c0019t0014g0123 others(1): Show a0001c0004t0040g0199 a0001c0009t0041g0198 a0001c0019t0014g0123 a0008c0020t0039g0197	4	202	0.0198	17	c.880 others(34): Show c.880-3991_880-3990insCGGCTGGCCAGGCGGGG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02896.hp1 HG03654.hp2 others(1): Show HG02165.hp2 HG02896.hp1 HG03654.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0004 a0001c0015t0001 a0001c0001t0001 a0001c0003t0004 a0001c0015t0001	a0001c0001t0001g0045 a0001c0003t0004g0006 a0001c0003t0004g0010 others(1): Show a0001c0001t0001g0045 a0001c0003t0004g0006 a0001c0003t0004g0010 a0001c0015t0001g0008	4	37	0.1081	17	c.831 others(34): Show c.831-3356_831-3340dupAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8516227	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03491.hp1 NA18973.hp2 HG02523.hp2 HG03491.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0002t0006g0145 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0002t0006g0145	3	34	0.0882	17	c.831 others(34): Show c.831-7569_831-7553dupTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8529287	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0126 a0001c0004t0014g0126	1	52	0.0192	17	c.830 others(36): Show c.830+11910_830+11926dupAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG03540.hp2 HG02647.hp2 HG02809.hp2 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0010 a0007c0025 a0001c0010 a0007c0025	a0001c0010t0007 a0001c0010t0013 a0007c0025t0007 a0001c0010t0007 a0001c0010t0013 a0007c0025t0007	a0001c0010t0007g0025 a0001c0010t0013g0023 a0007c0025t0007g0024 a0001c0010t0007g0025 a0001c0010t0013g0023 a0007c0025t0007g0024	3	31	0.0968	17	c.726 others(34): Show c.726-4681_726-4665dupAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG01175.hp2 others(6): Show HG00597.hp2 HG00609.hp1 HG01175.hp2 HG02886.hp1 NA18985.hp2 NA19007.hp2 NA19009.hp1 NA19074.hp1 NA20129.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0006c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 a0001c0002t0005 a0001c0016t0020 a0006c0021t0003	a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0069 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0036g0194 a0001c0002t0005g0136 a0001c0016t0020g0004 a0006c0021t0003g0135	9	37	0.2432	17	c.523 others(34): Show c.523-1774_523-1758dupTTTTTTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8605845	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0107 a0001c0004t0010g0107	1	6	0.1667	17	c.522 others(34): Show c.522+8699_522+8715dupAAAAAAAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8669077	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0092 a0001c0004t0003g0092	1	201	0.0050	17	c.-14 others(38): Show c.-144-12637_-144-12636insCACACACACACACACAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8678585	T T	TGGGAGGC others(10): Show TGGGAGGCGGAGGTTGCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01175.hp2 others(12): Show HG00280.hp2 HG01167.hp1 HG01175.hp2 HG01884.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03041.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0005c0013 a0006c0021	a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 others(5): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 a0001c0004t0010 a0001c0004t0022 a0001c0022t0008 a0005c0013t0029 a0006c0021t0003	a0001c0001t0003g0121 a0001c0002t0005g0110 a0001c0002t0005g0128 others(12): Show a0001c0001t0003g0121 a0001c0002t0005g0110 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0028g0133 a0001c0004t0010g0119 a0001c0004t0022g0120 a0001c0022t0008g0082 a0005c0013t0029g0111 a0006c0021t0003g0135	15	201	0.0746	17	c.-14 others(38): Show c.-144-22161_-144-22145dupTGCAACCTCCGCCTCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15104580	G G	GCCCATGA others(10): Show GCCCATGAGATATGTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	298	0.0034	17	c.45 others(28): Show c.4529_*4530insGCGACATATCTCATGGG	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding		3202		chr12	TogoVar
RERG_chr12_15102783_15226417	15126156	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	293	0.0034	17	c.62- others(32): Show c.62-5038_62-5037insTATATATATATATATAT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
RESF1_chr12_31954415_31998107	31956083	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG01243.hp1 others(13): Show HG00544.hp2 HG00621.hp1 HG01243.hp1 HG01928.hp2 HG01952.hp1 HG02132.hp2 HG02572.hp1 HG02647.hp1 HG03098.hp2 NA18947.hp2 NA18957.hp1 NA18983.hp2 NA18987.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1	a0002 a0004 a0007 others(3): Show a0002 a0004 a0007 a0009 a0013 a0025	a0002c0003 a0004c0004 a0007c0007 others(3): Show a0002c0003 a0004c0004 a0007c0007 a0009c0009 a0013c0014 a0025c0044	a0002c0003t0001 a0004c0004t0001 a0004c0004t0003 others(4): Show a0002c0003t0001 a0004c0004t0001 a0004c0004t0003 a0007c0007t0001 a0009c0009t0001 a0013c0014t0001 a0025c0044t0001	a0002c0003t0001g0261 a0004c0004t0001g0004 a0004c0004t0001g0248 others(11): Show a0002c0003t0001g0261 a0004c0004t0001g0004 a0004c0004t0001g0248 a0004c0004t0001g0288 a0004c0004t0001g0291 a0004c0004t0001g0293 a0004c0004t0003g0249 a0004c0004t0003g0250 a0007c0007t0001g0140 a0009c0009t0001g0238 a0009c0009t0001g0269 a0013c0014t0001g0313 a0013c0014t0001g0315 a0025c0044t0001g0141	16	336	0.0476	17	c.-37 others(28): Show c.-3750_-3749insTTTTTTTTTTTTTTTTT	RESF1	ENSG00000174718.12	transcript	ENST00000312561.9	protein_coding		3331		chr12	TogoVar
RETREG1_chr5_16468053_16621997	16527800	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19083.hp1 HG03486.hp1 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0005 a0001c0002t0002 a0002c0003t0005	a0001c0002t0002g0145 a0002c0003t0005g0054 a0001c0002t0002g0145 a0002c0003t0005g0054	2	52	0.0385	17	c.458 others(36): Show c.458+37946_458+37962dupAAAAAAAAAAAAAAAAA	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETSAT_chr2_85336955_85359528	85349052	T T	TTTTTGGG others(10): Show TTTTTGGGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00741.hp2 others(17): Show HG00408.hp2 HG00423.hp1 HG00741.hp2 HG01167.hp2 HG01169.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 NA18949.hp1 NA18954.hp1 NA18956.hp1 NA18967.hp2 NA18968.hp2 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA18991.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0004 a0002c0006t0001g0022 a0002c0002t0001g0004 a0002c0006t0001g0022	20	380	0.0526	17	c.997 others(32): Show c.997+331_997+332insCAAAAAAAAACCCAAAA	RETSAT	ENSG00000042445.14	transcript	ENST00000295802.9	protein_coding	5/10			chr2	TogoVar
REV1_chr2_99395477_99495017	99407080	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA19043.hp2 HG03669.hp2 NA19043.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0094 a0003c0003t0001g0083 a0003c0003t0001g0094	2	19	0.1053	17	c.244 others(34): Show c.2449-607_2449-591dupAAAAAAAAAAAAAAAAA	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	15/22			chr2	TogoVar
REV1_chr2_99395477_99495017	99442252	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0313 a0001c0001t0001g0315	2	125	0.0160	17	c.503 others(30): Show c.503+48_503+64dupTTTTTTTTTTTTTTTTT	REV1	ENSG00000135945.10	transcript	ENST00000258428.8	protein_coding	5/22			chr2	TogoVar
REV3L_chr6_111294033_111488218	111303701	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02129.hp1 NA18982.hp1 HG02083.hp1 HG02129.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0262 a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0262	3	123	0.0244	17	c.925 others(36): Show c.9253-3562_9253-3546dupAAAAAAAAAAAAAAAAA	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	31/31			chr6	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	328	0.0030	17	c.476 others(34): Show c.476-1217_476-1216insATATATATATATATTTT	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
REXO5_chr16_20801527_20854665	20820545	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02165.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG02165.hp2 NA18747.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0171 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0171 a0001c0002t0001g0158	5	341	0.0147	17	c.476 others(34): Show c.476-1217_476-1216insATATATATATATATATA	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19			chr16	TogoVar
RFC1_chr4_39282456_39371362	39313026	T T	TCATCATA others(10): Show TCATCATAAATAACCTTA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp2 HG02004.hp1 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0159 a0001c0002t0010g0115 a0001c0002t0002g0159 a0001c0002t0010g0115	2	274	0.0073	17	c.120 others(32): Show c.1204-96_1204-95insTAAGGTTATTTATGATG	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	10/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG01433.hp2 others(1): Show HG00673.hp2 HG01106.hp2 HG01433.hp2 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0144 others(1): Show a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0144 a0001c0002t0002g0152	4	21	0.1905	17	c.332 others(34): Show c.332-1388_332-1372dupTTTTTTTTTTTTTTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296146	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0227 a0001c0001t0008g0227	1	296	0.0034	17	c.207 others(32): Show c.207+512_207+513insTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296156	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0118 a0001c0001t0008g0118	1	145	0.0069	17	c.207 others(32): Show c.207+522_207+523insTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124310172	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01943.hp1 HG01952.hp2 others(11): Show HG01167.hp1 HG01943.hp1 HG01952.hp2 HG02273.hp2 HG02280.hp1 HG02602.hp1 HG03831.hp1 NA18967.hp1 NA18974.hp2 NA18977.hp2 NA18995.hp1 NA19007.hp1 NA19089.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0008 a0001c0001 a0001c0002 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0004c0008t0035	a0001c0001t0001g0199 a0001c0001t0001g0323 a0001c0001t0001g0348 others(11): Show a0001c0001t0001g0199 a0001c0001t0001g0323 a0001c0001t0001g0348 a0001c0001t0005g0028 a0001c0001t0013g0124 a0001c0002t0002g0020 a0001c0002t0002g0076 a0001c0002t0002g0093 a0001c0002t0003g0213 a0001c0002t0004g0272 a0001c0002t0004g0329 a0001c0002t0004g0374 a0001c0002t0004g0375 a0004c0008t0035g0169	14	29	0.4828	17	c.208 others(34): Show c.208-1638_208-1622dupAAAAAAAAAAAAAAAAA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124315651	G G	GAGCCCAC others(10): Show GAGCCCACAGCCTGGGGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0160 a0001c0001t0034g0160	1	386	0.0026	17	c.11 others(28): Show c.1131_*1132insACAGCCTGGGGCAGCCC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	3/3	1132	INFO_REALIGN_3_PRIME	chr12	TogoVar
RFNG_chr17_82042902_82056811	82046480	G G	GGGGCTCT others(10): Show GGGGCTCTGCCCAGAACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	459	0.0022	17	c.22 others(28): Show c.2245_*2246insTGTTCTGGGCAGAGCCC	RFNG	ENSG00000169733.12	transcript	ENST00000310496.9	protein_coding		1421		chr17	TogoVar
RFTN1_chr3_16310845_16518699	16313205	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG01943.hp1 others(15): Show HG00597.hp1 HG01192.hp2 HG01943.hp1 HG01978.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03579.hp1 HG04228.hp2 NA18747.hp1 NA18943.hp1 NA18953.hp1 NA18979.hp2 NA18982.hp2 NA19079.hp1 NA19082.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0007 a0001c0002 a0002c0003 a0003c0007	a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 others(3): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0002c0003t0003 a0002c0003t0004 a0003c0007t0007	a0001c0002t0002g0062 a0001c0002t0002g0192 a0001c0002t0002g0205 others(15): Show a0001c0002t0002g0062 a0001c0002t0002g0192 a0001c0002t0002g0205 a0001c0002t0002g0259 a0001c0002t0002g0266 a0001c0002t0005g0128 a0001c0002t0005g0145 a0001c0002t0005g0214 a0001c0002t0005g0237 a0001c0002t0007g0032 a0001c0002t0007g0049 a0001c0002t0007g0240 a0002c0003t0003g0174 a0002c0003t0003g0253 a0002c0003t0004g0010 a0002c0003t0004g0105 a0002c0003t0004g0106 a0003c0007t0007g0172	18	197	0.0914	17	c.36 others(28): Show c.3606_*3622dupAAAAAAAAAAAAAAAAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding		2639		chr3	TogoVar
RFTN2_chr2_197563224_197680587	197665517	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp2 others(54): Show HG00099.hp1 HG00099.hp2 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG00738.hp1 HG01070.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG02976.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG04228.hp1 NA18939.hp1 NA18948.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18980.hp2 NA18984.hp1 NA18995.hp1 NA18997.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19068.hp1 NA19077.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 a0001c0001 a0001c0009 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0009t0001 a0003c0004t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 others(53): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0001g0278 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0119 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0062 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0005g0100 a0001c0001t0005g0102 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0130 a0001c0001t0005g0174 a0001c0001t0006g0004 a0001c0001t0012g0041 a0001c0001t0013g0048 a0001c0001t0013g0101 a0001c0001t0015g0118 a0001c0001t0015g0120 a0001c0001t0021g0129 a0001c0001t0027g0109 a0001c0009t0001g0308 a0003c0004t0001g0125	57	163	0.3497	17	c.139 others(34): Show c.139+9802_139+9803insAAAAAAAAAAAAAAAAA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	1/8			chr2	TogoVar
RFX1_chr19_13956530_14011320	13970661	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	86	0.0116	17	c.131 others(34): Show c.1315-503_1315-487dupTTTTTTTTTTTTTTTTT	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding	9/20			chr19	TogoVar
RFX3_chr9_3213297_3531001	3329407	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0021 a0001c0001t0034g0021	1	120	0.0083	17	c.474 others(32): Show c.474+835_474+851dupTTTTTTTTTTTTTTTTT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	4/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CCTTTCTT others(10): Show CCTTTCTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	45	0.0222	17	c.118 others(36): Show c.118-19930_118-19929insAAAGAAAAGAAAGAAAG	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3366738	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0185 a0001c0001t0011g0185	1	194	0.0052	17	c.118 others(36): Show c.118-19975_118-19974insAGAAAGAAAGAAAGAAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106714068	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02109.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0001 a0001c0002t0005 a0001c0003t0001	a0001c0002t0005g0061 a0001c0003t0001g0009 a0001c0002t0005g0061 a0001c0003t0001g0009	2	167	0.0120	17	c.994 others(34): Show c.994-1325_994-1309dupAAAAAAAAAAAAAAAAA	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFX6_chr6_116872242_116937161	116936488	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0089 a0001c0002t0003g0089	1	47	0.0213	17	c.49 others(28): Show c.4982_*4983insGAGAGAGAGAGAGAGAG	RFX6	ENSG00000185002.10	transcript	ENST00000332958.3	protein_coding		4328		chr6	TogoVar
RGCC_chr13_41452550_41475871	41474205	A A	AGGCTTTG others(10): Show AGGCTTTGAAGAGTTACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	446	0.0022	17	c.37 others(28): Show c.3720_*3721insGGCTTTGAAGAGTTACT	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding		3335		chr13	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0174 a0001c0002t0174	a0001c0002t0174g0073 a0001c0002t0174g0073	1	280	0.0036	17	c.64 others(28): Show c.6428_*6429insAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGMA_chr15_93030271_93094211	93089322	C C	CCGCGGGC others(10): Show CCGCGGGCGGGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG03130.hp2 HG02056.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0195 a0001c0002t0078 a0001c0002t0195	a0001c0002t0078g0141 a0001c0002t0195g0109 a0001c0002t0078g0141 a0001c0002t0195g0109	2	412	0.0049	17	c.-39 others(26): Show c.-391_-390insCGCGCCCCCCGCCCGCG	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding		112		chr15	TogoVar
RGPD3_chr2_106398406_106473413	106412293	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01934.hp2 others(7): Show HG00558.hp1 HG00642.hp1 HG01934.hp2 HG01943.hp1 HG02148.hp2 NA18955.hp1 NA18971.hp1 NA19000.hp2 NA19058.hp2 NA19090.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0020	a0001c0001 a0002c0002 a0006c0006 others(2): Show a0001c0001 a0002c0002 a0006c0006 a0007c0013 a0020c0026	a0001c0001t0001 a0002c0002t0002 a0006c0006t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0006c0006t0001 a0007c0013t0002 a0020c0026t0002	a0001c0001t0001g0099 a0002c0002t0002g0275 a0002c0002t0002g0280 others(7): Show a0001c0001t0001g0099 a0002c0002t0002g0275 a0002c0002t0002g0280 a0002c0002t0002g0290 a0002c0002t0002g0294 a0002c0002t0002g0297 a0002c0002t0002g0308 a0006c0006t0001g0087 a0007c0013t0002g0362 a0020c0026t0002g0360	10	53	0.1887	17	c.526 others(34): Show c.5266+774_5266+790dupAAAAAAAAAAAAAAAAA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106450881	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(129): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp1 NA18975.hp2 NA18978.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19043.hp1 NA19054.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(22): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0013 a0016 a0017 a0022 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0039 a0040 a0041 a0045 a0046	a0001c0001 a0001c0007 a0001c0022 others(33): Show a0001c0001 a0001c0007 a0001c0022 a0001c0023 a0001c0047 a0001c0052 a0002c0002 a0002c0024 a0004c0004 a0004c0019 a0004c0040 a0005c0005 a0005c0036 a0005c0053 a0006c0006 a0007c0008 a0007c0013 a0008c0009 a0009c0010 a0011c0011 a0013c0015 a0016c0021 a0017c0020 a0022c0050 a0027c0048 a0028c0034 a0029c0032 a0030c0031 a0031c0058 a0032c0035 a0033c0060 a0039c0049 a0040c0039 a0041c0041 a0045c0038 a0046c0056	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0022t0001 a0001c0022t0007 a0001c0023t0001 a0001c0047t0005 a0001c0052t0001 a0002c0002t0002 a0002c0024t0002 a0004c0004t0001 a0004c0004t0003 a0004c0019t0001 a0004c0040t0005 a0005c0005t0001 a0005c0005t0004 a0005c0036t0001 a0005c0053t0001 a0006c0006t0001 a0007c0008t0002 a0007c0013t0002 a0008c0009t0001 a0009c0010t0002 a0011c0011t0002 a0013c0015t0003 a0016c0021t0001 a0017c0020t0001 a0022c0050t0001 a0027c0048t0002 a0028c0034t0002 a0029c0032t0002 a0030c0031t0002 a0031c0058t0001 a0032c0035t0002 a0033c0060t0001 a0039c0049t0001 a0040c0039t0001 a0041c0041t0002 a0045c0038t0002 a0046c0056t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 others(128): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0002g0266 a0001c0007t0001g0004 a0001c0007t0001g0142 a0001c0007t0001g0153 a0001c0007t0001g0154 a0001c0007t0001g0155 a0001c0007t0001g0159 a0001c0007t0001g0160 a0001c0007t0001g0163 a0001c0007t0001g0166 a0001c0007t0001g0167 a0001c0007t0001g0223 a0001c0007t0001g0224 a0001c0007t0001g0225 a0001c0007t0001g0226 a0001c0007t0001g0227 a0001c0007t0001g0238 a0001c0022t0001g0219 a0001c0022t0007g0259 a0001c0023t0001g0093 a0001c0047t0005g0261 a0001c0052t0001g0222 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0284 a0002c0002t0002g0350 a0002c0024t0002g0300 a0004c0004t0001g0139 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0150 a0004c0004t0001g0156 a0004c0004t0001g0157 a0004c0004t0001g0165 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0003g0012 a0004c0004t0003g0024 a0004c0004t0003g0032 a0004c0019t0001g0149 a0004c0019t0001g0151 a0004c0019t0001g0152 a0004c0040t0005g0260 a0005c0005t0001g0127 a0005c0005t0001g0229 a0005c0005t0001g0230 a0005c0005t0001g0231 a0005c0005t0001g0232 a0005c0005t0001g0233 a0005c0005t0001g0234 a0005c0005t0001g0236 a0005c0005t0001g0237 a0005c0005t0001g0239 a0005c0005t0001g0240 a0005c0005t0001g0241 a0005c0005t0001g0245 a0005c0005t0001g0247 a0005c0005t0001g0248 a0005c0005t0001g0249 a0005c0005t0001g0250 a0005c0005t0001g0251 a0005c0005t0004g0034 a0005c0005t0004g0035 a0005c0036t0001g0048 a0005c0053t0001g0246 a0006c0006t0001g0052 a0007c0008t0002g0361 a0007c0008t0002g0364 a0007c0013t0002g0362 a0007c0013t0002g0367 a0008c0009t0001g0117 a0008c0009t0001g0118 a0008c0009t0001g0119 a0008c0009t0001g0120 a0008c0009t0001g0121 a0008c0009t0001g0122 a0008c0009t0001g0124 a0008c0009t0001g0125 a0009c0010t0002g0315 a0009c0010t0002g0316 a0009c0010t0002g0317 a0009c0010t0002g0318 a0009c0010t0002g0319 a0009c0010t0002g0320 a0009c0010t0002g0321 a0011c0011t0002g0268 a0011c0011t0002g0269 a0011c0011t0002g0270 a0011c0011t0002g0271 a0011c0011t0002g0272 a0013c0015t0003g0011 a0016c0021t0001g0134 a0016c0021t0001g0213 a0016c0021t0001g0214 a0017c0020t0001g0215 a0017c0020t0001g0216 a0017c0020t0001g0217 a0022c0050t0001g0135 a0027c0048t0002g0376 a0028c0034t0002g0375 a0029c0032t0002g0324 a0030c0031t0002g0322 a0031c0058t0001g0158 a0032c0035t0002g0273 a0033c0060t0001g0144 a0039c0049t0001g0123 a0040c0039t0001g0103 a0041c0041t0002g0302 a0045c0038t0002g0373 a0046c0056t0001g0143	132	178	0.7416	17	c.782 others(34): Show c.782+1323_782+1324insTTTTTTTTTTTTTTTTT	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	6/22			chr2	TogoVar

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