Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RECK_chr9_36031913_36129455	36082152	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03209.hp2 HG02074.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0293 a0001c0002t0001g0086 a0001c0001t0001g0293 a0001c0002t0001g0086	2	392	0.0051	17	c.440 others(34): Show c.440-1213_440-1212insCTCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20			chr9	TogoVar
REEP1_chr2_86208993_86342626	86217666	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0044 a0005c0010t0044	a0005c0010t0044g0287 a0005c0010t0044g0287	1	320	0.0031	17	c.784 others(32): Show c.784-573_784-557dupAAAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	8/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86342181	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00741.hp1 others(5): Show HG00140.hp1 HG00140.hp2 HG00741.hp1 HG01099.hp2 HG02486.hp2 HG02970.hp2 HG03017.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0031 a0001c0001t0038 a0001c0002t0002 a0001c0008t0003	a0001c0001t0002g0043 a0001c0001t0002g0086 a0001c0001t0002g0126 others(5): Show a0001c0001t0002g0043 a0001c0001t0002g0086 a0001c0001t0002g0126 a0001c0001t0003g0044 a0001c0001t0031g0089 a0001c0001t0038g0059 a0001c0002t0002g0123 a0001c0008t0003g0304	8	320	0.0250	17	c.-46 others(28): Show c.-4672_-4671insAAAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding		4556		chr2	TogoVar
REEP6_chr19_1486181_1502927	1490893	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0048 a0001c0003t0002g0012 a0001c0003t0002g0048	2	318	0.0063	17	c.-37 others(26): Show c.-377_-376insCCCCCCCCCCCCCCCCC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		287		chr19	TogoVar
RELN_chr7_103466789_103994658	103494393	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0018 a0018	a0018c0068 a0018c0068	a0018c0068t0001 a0018c0068t0001	a0018c0068t0001g0108 a0018c0068t0001g0108	1	184	0.0054	17	c.936 others(36): Show c.9369+1329_9369+1330insACACACACACACACACA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01169.hp2 HG01891.hp2 others(9): Show HG01081.hp2 HG01169.hp2 HG01891.hp2 HG02293.hp2 HG03516.hp2 HG04228.hp1 NA18952.hp1 NA18969.hp1 NA19010.hp1 NA19030.hp2 NA19067.hp1 NA19067.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0014 a0029	a0001c0002 a0001c0004 a0001c0011 others(6): Show a0001c0002 a0001c0004 a0001c0011 a0001c0018 a0001c0022 a0003c0028 a0006c0013 a0014c0077 a0029c0052	a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 others(7): Show a0001c0002t0001 a0001c0004t0001 a0001c0011t0001 a0001c0011t0002 a0001c0018t0001 a0001c0022t0001 a0003c0028t0001 a0006c0013t0002 a0014c0077t0001 a0029c0052t0001	a0001c0002t0001g0085 a0001c0004t0001g0052 a0001c0004t0001g0137 others(9): Show a0001c0002t0001g0085 a0001c0004t0001g0052 a0001c0004t0001g0137 a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 a0001c0018t0001g0059 a0001c0022t0001g0077 a0003c0028t0001g0095 a0006c0013t0002g0018 a0014c0077t0001g0155 a0029c0052t0001g0079	12	184	0.0652	17	c.786 others(34): Show c.7862+817_7862+818insAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64			chr7	TogoVar
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 a0012 a0026 a0001 a0012 a0026	a0001c0001 a0001c0020 a0012c0083 others(1): Show a0001c0001 a0001c0020 a0012c0083 a0026c0043	a0001c0001t0013 a0001c0020t0004 a0012c0083t0001 others(1): Show a0001c0001t0013 a0001c0020t0004 a0012c0083t0001 a0026c0043t0004	a0001c0001t0013g0164 a0001c0020t0004g0162 a0012c0083t0001g0154 others(1): Show a0001c0001t0013g0164 a0001c0020t0004g0162 a0012c0083t0001g0154 a0026c0043t0004g0161	4	184	0.0217	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	a0001c0005t0002g0032 a0001c0005t0002g0032	1	184	0.0054	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	184	0.0054	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	392	0.0026	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	392	0.0765	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	a0001c0001t0002g0075 a0001c0001t0002g0100 a0002c0003t0004g0019 others(6): Show a0001c0001t0002g0075 a0001c0001t0002g0100 a0002c0003t0004g0019 a0002c0003t0004g0022 a0002c0003t0004g0024 a0002c0003t0004g0025 a0002c0003t0004g0032 a0002c0003t0004g0038 a0002c0003t0004g0040	9	390	0.0231	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	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 others(24): Show a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0294 a0001c0001t0001g0304 a0001c0001t0011g0259 a0001c0001t0025g0217 a0004c0006t0001g0134 a0011c0014t0001g0271	27	390	0.0692	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	a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0242	3	390	0.0077	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(8): Show HG02040.hp1 HG02109.hp1 HG02293.hp1 HG02300.hp2 HG03098.hp1 HG03453.hp2 HG03710.hp1 NA18962.hp1 NA18998.hp1 NA19076.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0022 others(8): Show a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0022 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0112 a0001c0001t0002g0121 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0006g0134 a0001c0001t0008g0046	11	166	0.0663	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	a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0001t0002g0051 a0001c0001t0002g0059	2	354	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	a0001c0001t0001g0107 a0001c0001t0001g0107	1	354	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 a0007 a0001 a0007	a0001c0004 a0001c0009 a0001c0019 others(1): Show a0001c0004 a0001c0009 a0001c0019 a0007c0020	a0001c0004t0040 a0001c0009t0041 a0001c0019t0014 others(1): Show a0001c0004t0040 a0001c0009t0041 a0001c0019t0014 a0007c0020t0039	a0001c0004t0040g0199 a0001c0009t0041g0198 a0001c0019t0014g0119 others(1): Show a0001c0004t0040g0199 a0001c0009t0041g0198 a0001c0019t0014g0119 a0007c0020t0039g0197	4	204	0.0196	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	a0001c0001t0001g0046 a0001c0003t0004g0007 a0001c0003t0004g0011 others(1): Show a0001c0001t0001g0046 a0001c0003t0004g0007 a0001c0003t0004g0011 a0001c0015t0001g0009	4	204	0.0196	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	204	0.0147	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	204	0.0049	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 a0006 a0001 a0006	a0001c0010 a0006c0025 a0001c0010 a0006c0025	a0001c0010t0007 a0001c0010t0013 a0006c0025t0007 a0001c0010t0007 a0001c0010t0013 a0006c0025t0007	a0001c0010t0007g0026 a0001c0010t0013g0024 a0006c0025t0007g0025 a0001c0010t0007g0026 a0001c0010t0013g0024 a0006c0025t0007g0025	3	204	0.0147	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 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0016 others(1): Show a0001c0001 a0001c0002 a0001c0016 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0036 a0001c0002t0005 a0001c0016t0020 a0009c0021t0003	a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0070 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0003g0100 a0001c0001t0003g0104 a0001c0001t0036g0194 a0001c0002t0005g0136 a0001c0016t0020g0001 a0009c0021t0003g0135	9	204	0.0441	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	204	0.0049	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	204	0.0049	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 a0009 a0001 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0022 a0005c0013 a0009c0021	a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 others(5): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0028 a0001c0004t0010 a0001c0004t0022 a0001c0022t0008 a0005c0013t0029 a0009c0021t0003	a0001c0001t0003g0122 a0001c0002t0005g0110 a0001c0002t0005g0128 others(12): Show a0001c0001t0003g0122 a0001c0002t0005g0110 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0028g0133 a0001c0004t0010g0120 a0001c0004t0022g0121 a0001c0022t0008g0082 a0005c0013t0029g0111 a0009c0021t0003g0135	15	204	0.0735	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	a0001c0001t0001g0026 a0001c0001t0001g0026	1	300	0.0033	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	a0001c0002t0001g0007 a0001c0002t0001g0007	1	300	0.0033	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	a0002c0003t0001g0262 a0004c0004t0001g0004 a0004c0004t0001g0249 others(11): Show a0002c0003t0001g0262 a0004c0004t0001g0004 a0004c0004t0001g0249 a0004c0004t0001g0289 a0004c0004t0001g0292 a0004c0004t0001g0294 a0004c0004t0003g0250 a0004c0004t0003g0251 a0007c0007t0001g0140 a0009c0009t0001g0239 a0009c0009t0001g0270 a0013c0014t0001g0314 a0013c0014t0001g0316 a0025c0044t0001g0141	16	452	0.0354	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	294	0.0068	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	384	0.0521	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	a0003c0003t0001g0081 a0003c0003t0001g0096 a0003c0003t0001g0081 a0003c0003t0001g0096	2	324	0.0062	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	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0315 a0001c0001t0001g0316	2	324	0.0062	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	a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0263 a0001c0001t0001g0059 a0001c0001t0001g0083 a0001c0001t0001g0263	3	288	0.0104	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	a0001c0001t0001g0318 a0001c0001t0001g0318	1	372	0.0027	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	a0001c0001t0001g0021 a0001c0001t0001g0162 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0162 a0001c0001t0001g0225 a0001c0002t0001g0203	5	372	0.0134	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	a0001c0002t0002g0160 a0001c0002t0010g0133 a0001c0002t0002g0160 a0001c0002t0010g0133	2	276	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 a0001c0002t0002g0147 others(1): Show a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0147 a0001c0002t0002g0156	4	276	0.0145	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	a0001c0001t0008g0190 a0001c0001t0008g0190	1	388	0.0026	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	a0001c0001t0008g0119 a0001c0001t0008g0119	1	388	0.0026	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	a0001c0001t0001g0188 a0001c0001t0001g0319 a0001c0001t0001g0346 others(11): Show a0001c0001t0001g0188 a0001c0001t0001g0319 a0001c0001t0001g0346 a0001c0001t0005g0027 a0001c0001t0013g0120 a0001c0002t0002g0019 a0001c0002t0002g0075 a0001c0002t0002g0103 a0001c0002t0003g0182 a0001c0002t0004g0266 a0001c0002t0004g0325 a0001c0002t0004g0375 a0001c0002t0004g0376 a0004c0008t0035g0138	14	388	0.0361	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	a0001c0001t0034g0237 a0001c0001t0034g0237	1	388	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	462	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	a0001c0002t0002g0064 a0001c0002t0002g0192 a0001c0002t0002g0205 others(15): Show a0001c0002t0002g0064 a0001c0002t0002g0192 a0001c0002t0002g0205 a0001c0002t0002g0259 a0001c0002t0002g0266 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0214 a0001c0002t0005g0237 a0001c0002t0007g0034 a0001c0002t0007g0051 a0001c0002t0007g0240 a0002c0003t0003g0174 a0002c0003t0003g0253 a0002c0003t0004g0012 a0002c0003t0004g0105 a0002c0003t0004g0106 a0003c0007t0007g0172	18	268	0.0672	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 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0009t0002 a0003c0004t0002	a0001c0001t0001g0125 a0001c0001t0002g0042 a0001c0001t0002g0043 others(53): Show a0001c0001t0001g0125 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0056 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0143 a0001c0001t0002g0186 a0001c0001t0002g0202 a0001c0001t0002g0279 a0001c0001t0002g0297 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0068 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0129 a0001c0001t0005g0130 a0001c0001t0005g0136 a0001c0001t0005g0180 a0001c0001t0006g0003 a0001c0001t0013g0054 a0001c0001t0013g0107 a0001c0001t0015g0047 a0001c0001t0016g0124 a0001c0001t0016g0126 a0001c0001t0020g0135 a0001c0001t0024g0115 a0001c0009t0002g0309 a0003c0004t0002g0131	57	312	0.1827	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	a0002c0002t0001g0131 a0002c0002t0001g0131	1	280	0.0036	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	a0001c0001t0034g0077 a0001c0001t0034g0077	1	196	0.0051	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	196	0.0051	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	196	0.0051	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	a0001c0002t0005g0060 a0001c0003t0001g0008 a0001c0002t0005g0060 a0001c0003t0001g0008	2	296	0.0068	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

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