Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
CACNA2D1_chr7_81941444_82448777	82060168	A A	ATATATAT others(192): Show ATATATATAATATATATATATATTATATATATAATATATATATAATACAT ATATATATATAATACATATATATATTATATATATAATATATATATAATAC ATATATATATTATATATATATTATATATATATAATATATATATAATATAT ATATATTATATATATAATATATATATAATATATATATAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	97	0.0103	199	c.879 others(214): Show c.879+259_879+260insATATATATATATTATATATATATTATATAT ATATTATATATATAATATATATATATTATATATATATTATATATATATAA TATATATATAATATATATATGTATTATATATATATTATATATATAATATA TATATGTATTATATATATATATGTATTATATATATATTATATATATAATA TATATATATATTATATATA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(192): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGAGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0101 a0001c0027t0001g0101	1	66	0.0152	199	c.104 others(218): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCTCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(192): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG02109.hp1 others(5): Show HG01261.hp2 HG01884.hp1 HG02109.hp1 HG02572.hp2 HG03195.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0325 a0001c0002t0005g0324 a0001c0002t0005g0326 others(5): Show a0001c0002t0002g0325 a0001c0002t0005g0324 a0001c0002t0005g0326 a0001c0002t0005g0327 a0001c0002t0005g0328 a0001c0002t0005g0329 a0001c0002t0005g0330 a0001c0002t0005g0331	8	73	0.1096	199	c.104 others(218): Show c.1045+2187_1045+2188insTCCTCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(192): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGA AGGGGAGGGGAGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03540.hp2 HG06807.hp1 HG00741.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0286 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0286 a0001c0002t0003g0288 a0001c0002t0003g0289	3	68	0.0441	199	c.104 others(218): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN15_chr16_522712_559636	550778	T T	TCCCCGGT others(192): Show TCCCCGGTCGGTGAGGGCGCCCCGTCAGTGAGGGTCCCGGTCGGTGAGGG TCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGA CCCGGTCGGTGAGGGCCCCCTGTCGGTGAGGGTCCCCTGTCGGTGAGGGC CCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGTCCCCTGTCGGTGAGGGTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03209.hp2 HG01109.hp1 HG03209.hp2	a0003 a0005 a0003 a0005	a0003c0035 a0005c0034 a0003c0035 a0005c0034	a0003c0035t0004 a0005c0034t0001 a0003c0035t0004 a0005c0034t0001	a0003c0035t0004g0399 a0005c0034t0001g0398 a0003c0035t0004g0399 a0005c0034t0001g0398	2	352	0.0057	199	c.206 others(216): Show c.2067-521_2067-520insCGGTCGGTGAGGGCGCCCCGTCAGTGAG GGTCCCGGTCGGTGAGGGTCCCCGGTCGGTGAGGGCCCCTGTCGGTGAGG GCCCCGGTCGGTGAGGGACCCGGTCGGTGAGGGCCCCCTGTCGGTGAGGG TCCCCTGTCGGTGAGGGCCCCGGTCGGTGAGGGCCCCGGTCGGTGAGGGT CCCCTGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(192): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGAAG GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0289 a0002c0003t0003g0289	1	43	0.0233	199	c.234 others(216): Show c.234+6868_234+6869insCTTCTTCTTCTTCCTCTCCTTCTCCTTC TCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(192): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGGAAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGA GGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0324 a0002c0004t0002g0324	1	43	0.0233	199	c.234 others(216): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(192): Show AAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0171	1	43	0.0233	199	c.234 others(216): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCT TCTTCCTCCTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	18	0.0556	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG00280.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0020 a0001c0001t0003g0007 a0001c0001t0003g0020	2	19	0.1053	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 NA18992.hp1 NA18998.hp1 HG01255.hp2 NA18992.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0152 a0001c0001t0003g0158 a0001c0001t0003g0021 a0001c0001t0003g0152 a0001c0001t0003g0158	3	20	0.1500	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	18	0.0556	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	18	0.0556	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(192): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTT CCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	18	0.0556	199	c.-22 others(210): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882095	G G	GGGGAGAA others(192): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp1 NA18612.hp1 others(1): Show HG00544.hp2 HG00673.hp1 NA18612.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 others(1): Show a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0135 a0001c0001t0002g0136	4	253	0.0158	199	c.303 others(218): Show c.303+24026_303+24027insGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882406	G G	GCGGGAGA others(192): Show GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAA AGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0030 a0002c0004t0001g0030	1	235	0.0043	199	c.303 others(218): Show c.303+23715_303+23716insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(192): Show CTATATATACACTATATATAGTTATATATACTATATATACACTATATATA GTATATATACTATATATAACTATATATAGTGTATATATACTATATATAAC TATATATAGTATATATACTATATATACACTATATATAGTATATATACTAT ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(53): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG02300.hp2 HG02451.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG03239.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03942.hp2 HG04199.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18970.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA19004.hp2 NA19012.hp2 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0002c0004 a0006c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0023 a0001c0002t0003 a0001c0005t0001 a0001c0016t0013 a0002c0004t0004 a0006c0017t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 others(47): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0313 a0001c0001t0001g0337 a0001c0001t0001g0341 a0001c0001t0001g0354 a0001c0001t0002g0030 a0001c0001t0002g0065 a0001c0001t0002g0150 a0001c0001t0002g0186 a0001c0001t0002g0203 a0001c0001t0013g0346 a0001c0001t0023g0268 a0001c0002t0003g0057 a0001c0005t0001g0003 a0001c0005t0001g0136 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0016t0013g0267 a0002c0004t0004g0075 a0006c0017t0001g0060	56	349	0.1605	199	c.349 others(214): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATAACTA TATATAGTATATATACTATATATACACTATATATAGTATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA TATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL4A2_chr13_110302284_110518209	110355695	C C	CTAGCTCA others(192): Show CTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGT GGGGGGGAGGGCTGCACTAGCTCACTTGTGTGTGTGGGGGAGGGCTGCAG TAGCTCACTTGTGTGTGTGGGGTAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0207 a0001c0011t0004g0207	1	211	0.0047	199	c.100 others(216): Show c.100-1777_100-1776insTAGCTCACCTGTGTGTGTGGGGGAGGGC TGCACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTAGCTCACTTGT GTGTGTGGGGGAGGGCTGCAGTAGCTCACTTGTGTGTGTGGGGTAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(192): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGATGG GGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03017.hp1 HG03017.hp2 others(2): Show HG01255.hp1 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0003 a0001c0003t0006 a0001c0017t0003 a0001c0003t0003 a0001c0003t0006 a0001c0017t0003	a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0025 others(2): Show a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0025 a0001c0003t0006g0026 a0001c0017t0003g0016	5	24	0.2083	199	c.100 others(214): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAG GTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGG ACGGGGAGGGACGGGGAGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62830651	C C	CACCCCCC others(192): Show CACCCCCCACCACAGTCCCCCACCCCCCACCCCAGTCCCCAAACCCCTAC CACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCTACCACAGTCCCCC AACCCCTACCACAGTCCCCCAACCCCCACCACAGTCCCCCACCCCCACCA CAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCACCACAGTCCCCCA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18994.hp2 NA19004.hp2 NA18985.hp1 NA18994.hp2 NA19004.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0343 a0008c0017t0001g0344 a0008c0017t0001g0346 a0008c0017t0001g0343 a0008c0017t0001g0344 a0008c0017t0001g0346	3	261	0.0115	199	c.128 others(214): Show c.1287+69_1287+70insCACCACAGTCCCCCACCCCCCACCCCAGTC CCCAAACCCCTACCACAGTCCCCCAACCCCACCACAGTCCCCCACCCCCT ACCACAGTCCCCCAACCCCTACCACAGTCCCCCAACCCCCACCACAGTCC CCCACCCCCACCACAGTCCGCCAACCCCCATGACAGTCCCCCAACCCCCA CCACAGTCCCCCAACCCCC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	24/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPS7A_chr12_6719046_6736865	6722714	A A	AAAAAAAA others(192): Show AAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCAGCTACTCAGGAGGC TGAGGCGGGAGAATCATTTGAACCCAAGAGGCAGAGGTTCAGTGGGTCGA GACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTCTGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0056 a0001c0002t0004g0056	1	452	0.0022	199	c.-15 others(210): Show c.-1509_-1508insAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCT ACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCC AGCTACTCAGGAGGCTGAGGCGGGAGAATCATTTGAACCCAAGAGGCAGA GGTTCAGTGGGTCGAGACCACGCCATTGCACTCCAGCCTGGGTGGCAAGA GCGAAACTCTGGCTC	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1331		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6722714	A A	AAAAAAAA others(192): Show AAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCAGCTACTCAGGAGGC TGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGAGGTTCAGTGGGTCGA GACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAGCGAAACTCTGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp1 others(9): Show HG00738.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02723.hp2 HG02809.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0065 a0001c0001t0002g0031 a0001c0002t0004g0013 others(2): Show a0001c0001t0001g0065 a0001c0001t0002g0031 a0001c0002t0004g0013 a0001c0002t0004g0060 a0001c0002t0004g0061	12	463	0.0259	199	c.-15 others(210): Show c.-1509_-1508insAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCT ACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCC AGCTACTCAGGAGGCTGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGA GGTTCAGTGGGTCGAGACCACGCCATTGCACTCCAGCCTGGGTGGCAAGA GCGAAACTCTGGCTC	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1331		chr12	TogoVar
COPS7A_chr12_6719046_6736865	6722714	A A	AAAAAAAA others(192): Show AAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCTACTAAAAATACAAAA ATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCCAGCTACTCAGGAGGC TGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGAGGTTCAGTGGGTCGA GACCACGCCATTGCACTCCAGCCTGGGTGGCAAGAGTGAAACTCTGGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp2 HG03195.hp1 HG02055.hp1 HG02922.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0016 a0001c0002t0003g0044 a0001c0002t0003g0016 a0001c0002t0003g0044	3	454	0.0066	199	c.-15 others(210): Show c.-1509_-1508insAAAAAAAAAAAAAGATAAGCTTGGACCTGTCTCT ACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATTCC AGCTACTCAGGAGGCTGAGGCGGGAGAATCATTTGAGCCCAAGAGGCAGA GGTTCAGTGGGTCGAGACCACGCCATTGCACTCCAGCCTGGGTGGCAAGA GTGAAACTCTGGCTC	COPS7A	ENSG00000111652.10	transcript	ENST00000543155.6	protein_coding		1331		chr12	TogoVar
CPNE7_chr16_89570758_89602246	89587330	G G	GCCCCGCC others(192): Show GCCCCGCCCCTCCCTGCCCCCTCAGTCTGTGGCCCCGCCCCGCCCCGCCC CCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGCCCCCCGCCCA CCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCCGCCGCCCCTG CCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	117	0.0085	199	c.927 others(214): Show c.927+237_927+238insTCCCTGCCCCCTCAGTCTGTGGCCCCGCCC CGCCCCGCCCCCTCAGTCCGTGACCCCGCCCCCTCCACACCGGGACCCGC CCCCCGCCCACCCGGAGGAGGAACCAGGCCAGATACCTGGAGTACCCCCC GCCGCCCCTGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCC CCGCCCCCGCCCCCGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CGTGTCAC others(192): Show CGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGC GTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCC CCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	283	0.0035	199	c.928 others(214): Show c.928-606_928-605insGTGTCACCCGCGTGTCACCCACAGAAACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACA CGGCCCCCCGTGTCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CRMP1_chr4_5815764_5898086	5856985	G G	GTTATCAC others(192): Show GTTATCACCACTATCATTATCACCCCACCACCATCATCACCATCACCACC ACCACCATCATCATTACTAACATTATCACCACCACCACCATCACCACCAT CATCACCACCGCCACCATCCACTATCATCACCACCATCCACTATTATCAC CACCATCCACTATCATCACCACCATCTGCTATCATCACCACCATCCACTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19012.hp1 HG02486.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0178 a0001c0003t0001g0168 a0001c0002t0001g0178 a0001c0003t0001g0168	2	12	0.1667	199	c.656 others(214): Show c.656-679_656-678insTAGTGGATGGTGGTGATGATAGCAGATGGT GGTGATGATAGTGGATGGTGGTGATAATAGTGGATGGTGGTGATGATAGT GGATGGTGGCGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGATAATG TTAGTAATGATGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGGGGTG ATAATGATAGTGGTGATAA	CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	3/13			chr4	TogoVar
CST8_chr20_23486117_23501010	23490070	T T	TTATATAT others(192): Show TTATATATATATAAAATATATATATAAATTATATATATATTAATTATATA TATATTATATATATAAATTATATATATATTAATTATATATATAATATATA TATAAATTATATATATATTAATATATATATAATATATATATATATTAATT ATATATATAATATATATATAAATTATATATATATTAATATATATATAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA19081.hp2 NA18939.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	400	0.0050	199	c.-14 others(210): Show c.-1416_-1415insTATATATATATAAAATATATATATAAATTATATA TATATTAATTATATATATATTATATATATAAATTATATATATATTAATTA TATATATAATATATATATAAATTATATATATATTAATATATATATAATAT ATATATATATTAATTATATATATAATATATATATAAATTATATATATATT AATATATATATAATA	CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding		1046		chr20	TogoVar
CUL4A_chr13_113204613_113272108	113232265	C C	CGCCCACC others(192): Show CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTA TTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	150	0.0067	199	c.513 others(214): Show c.513-903_513-902insCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACC CGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCC ACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTACTGTC ACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH3_chr7_6156779_6277624	6259760	T T	TATATATA others(192): Show TATATATATAATATATATATAATATATATATATAATATATATATATAATA TATATATAATATATATATATAATATATATATAATATATATATAATATATA TATATAATATATATATATAATATATATATAATATATATATATAATATATA TATAATATATATATATAATATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	321	0.0031	199	c.34+ others(216): Show c.34+12713_34+12714insTATATATATATTATATATATATTATATA TATATTATATATATATATTATATATATATTATATATATATATTATATATA TATTATATATATATATTATATATATATATTATATATATATTATATATATA TTATATATATATATTATATATATATTATATATATATATTATATATATATA TTATATATATATTATATATAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DBNL_chr7_44039702_44074456	44043563	A A	ATGTGTGT others(192): Show ATGTGTGTGTGTATATACATATATATACTATATGTGTGTATATATATACA TATATACTATATGTGTGTATATATATACATATATACTATATGTGTGTGTA TATATATACATATATATACTATATATGTGTGTGTGTGTGTATATATATAT ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	282	0.0035	199	c.-11 others(210): Show c.-1175_-1174insTGTGTGTGTGTATATACATATATATACTATATGT GTGTATATATATACATATATACTATATGTGTGTATATATATACATATATA CTATATGTGTGTGTATATATATACATATATATACTATATATGTGTGTGTG TGTGTATATATATATATATATATATATATATATATATATATATATATTTT TTTTTTTTTTTTTTT	DBNL	ENSG00000136279.21	transcript	ENST00000448521.6	protein_coding		1138		chr7	TogoVar
DHRSX_chrX_2214506_2505976	2446521	C C	CAATGCGG others(192): Show CAATGCGGCCAAGAGACCACCGCCATGTACACACTGAAGACGGTCCCTAA GAATGCGGCCAAGGGACCACCTCCATGTACACACTGAAGACATTCCCTAA GCATGGGCTAAGGGACGGTAGCCATGTACACACTGAAGAAGTTCCCTAAA AATGTGGCCAAGGGACCACCGCCATGTACACACTGAAAATGGTCCCTAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01261.hp1 HG02004.hp1 others(6): Show HG00280.hp1 HG01261.hp1 HG02004.hp1 HG02486.hp2 HG02717.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp1 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0005c0006	a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 others(5): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0004 a0002c0005t0004 a0003c0003t0001 a0003c0003t0005 a0003c0003t0013 a0005c0006t0004	a0001c0001t0001g0022 a0002c0002t0002g0005 a0002c0002t0002g0050 others(6): Show a0001c0001t0001g0022 a0002c0002t0002g0005 a0002c0002t0002g0050 a0002c0002t0004g0035 a0002c0005t0004g0030 a0003c0003t0001g0031 a0003c0003t0005g0006 a0003c0003t0013g0002 a0005c0006t0004g0034	9	48	0.1875	199	c.110 others(218): Show c.110-21218_110-21217insCTTAGGGACCATTTTCAGTGTGTACA TGGCGGTGGTCCCTTGGCCACATTTTTAGGGAACTTCTTCAGTGTGTACA TGGCTACCGTCCCTTAGCCCATGCTTAGGGAATGTCTTCAGTGTGTACAT GGAGGTGGTCCCTTGGCCGCATTCTTAGGGACCGTCTTCAGTGTGTACAT GGCGGTGGTCTCTTGGCCGCATT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DIP2C_chr10_269201_694668	322364	C C	CGGGGGCT others(192): Show CGGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTG CGGGGCTCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCG GGGGCTCCGGTGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	87	0.0115	199	c.392 others(218): Show c.3924+4641_3924+4642insCGCACCCCCGACTGACTGTTCTAACA ACGCCGGTCTCTCACCGGAGCCCCCGCACCCCCGACTGACTGTTCTAACA GCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCTGGAGCCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DIP2C_chr10_269201_694668	429404	C C	CCCCCCCG others(192): Show CCCCCCCGGACCCTGGCTGCCTCCCCCCCCGGACCCTGGCTGCCTCCCCC CCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGG CCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGG CTGCCTCCCCCCCGGGCCCTGGCTGCCTCCCCCCCGGGCCCTGGCTGCCT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	82	0.0122	199	c.395 others(216): Show c.395-6372_395-6371insAGGCAGCCAGGGCCCGGGGGGGAGGCAG CCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGG CCCGGGGGGGAGGCAGCCAGGGCCCGGGGGGGAGGCAGCCAGGGCCCGGG GGGGAGGCAGCCAGGGCCCGGGGGGGGAGGCAGCCAGGGTCCGGGGGGGG AGGCAGCCAGGGTCCGGGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
DOP1A_chr6_83062671_83173471	83145191	A A	AATATATA others(192): Show AATATATATATAATATATATAATATGTATATATAATATATATATAATATG TATATATAATATATATATAATATATATAATATATATAATATATATATAAT ATATATAATATATATATAATATATATATTATATATATTATATATATAATA TATATATAATATATATATAATATATATATAATATATATATTTAAAAGTAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	270	0.0037	199	c.554 others(216): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATATTATATATATTAT ATATATAATATATATATAATATATATATAATATATATATAATATATATAT TTAAAAGTATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(192): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT AATATATATAATATATATATTATATATAATATATATATATAATATATATA TAATATATATATAATATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	176	0.0057	199	c.554 others(216): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATAATATATATAATATATATATTATATATAATATATATA TATAATATATATATAATATATATATAATATATATAATATATATATAATAT ATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(192): Show ATATATATAATATATATATAATATGTATATATATAATATATATATTATGT ATATATAATATATATATAATATATATATTATATATATATTATATATATAT TATATATATAATATATATATAATATATATATTATATATAATATATATATA TAATATATATATTATATATATAATATATATATAATATATATATTTAAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	176	0.0057	199	c.554 others(216): Show c.5542-324_5542-323insATATATATATAATATGTATATATATAAT ATATATATTATGTATATATAATATATATATAATATATATATTATATATAT ATTATATATATATTATATATATAATATATATATAATATATATATTATATA TAATATATATATATAATATATATATTATATATATAATATATATATAATAT ATATATTTAAAAGTATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(192): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCT TCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCT TTACTTCTTCCCTTCCCTTGCTTTCCTCCCCCTTCCCTTTCCTTCCCTTT CCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	3	0.3333	199	c.478 others(218): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTCCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGTTCCTCTTCTTCCCCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(192): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCCGCCCTCCCTTCCT TCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCT TTACTTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTT CCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0003t0001 a0001c0003t0013 a0001c0003t0028 a0001c0005t0005 a0002c0002t0008 a0002c0002t0012 a0002c0002t0034 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 others(382): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0184 a0001c0001t0001g0196 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0391 a0001c0001t0001g0392 a0001c0001t0001g0393 a0001c0001t0001g0394 a0001c0001t0002g0002 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0369 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0368 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0226 a0001c0001t0004g0229 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0264 a0001c0001t0004g0288 a0001c0001t0004g0361 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0395 a0001c0001t0004g0396 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0387 a0001c0001t0006g0008 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0234 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0248 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0007g0151 a0001c0001t0007g0153 a0001c0001t0007g0370 a0001c0001t0007g0371 a0001c0001t0007g0372 a0001c0001t0007g0373 a0001c0001t0007g0374 a0001c0001t0007g0375 a0001c0001t0008g0192 a0001c0001t0008g0194 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0296 a0001c0001t0009g0001 a0001c0001t0009g0056 a0001c0001t0009g0061 a0001c0001t0009g0062 a0001c0001t0009g0064 a0001c0001t0010g0380 a0001c0001t0010g0381 a0001c0001t0010g0382 a0001c0001t0010g0384 a0001c0001t0011g0376 a0001c0001t0011g0379 a0001c0001t0011g0385 a0001c0001t0011g0386 a0001c0001t0013g0004 a0001c0001t0014g0141 a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0015g0044 a0001c0001t0015g0057 a0001c0001t0015g0125 a0001c0001t0016g0029 a0001c0001t0016g0030 a0001c0001t0017g0211 a0001c0001t0017g0212 a0001c0001t0018g0129 a0001c0001t0018g0135 a0001c0001t0019g0354 a0001c0001t0020g0213 a0001c0001t0020g0214 a0001c0001t0021g0059 a0001c0001t0021g0077 a0001c0001t0022g0383 a0001c0001t0023g0188 a0001c0001t0025g0216 a0001c0001t0029g0139 a0001c0001t0030g0152 a0001c0001t0031g0095 a0001c0001t0032g0357 a0001c0001t0035g0367 a0001c0003t0001g0154 a0001c0003t0013g0146 a0001c0003t0028g0155 a0001c0005t0005g0009 a0002c0002t0008g0206 a0002c0002t0012g0202 a0002c0002t0012g0203 a0002c0002t0012g0204 a0002c0002t0012g0205 a0002c0002t0034g0207 a0003c0004t0001g0292	387	389	0.9949	199	c.478 others(218): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCCGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTTCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGTTCCTCTTCTTCCCCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18695427	C C	CCCCCTCC others(192): Show CCCCCTCCCCTCCCCTCCCTGTCCCTTCCTCCCTCCTGCCCTCCCTTCCT TCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTCTTTCCCTCCCTCCTTCCT TTACTTCTTCCCTTCCCTTGCTTTCCTTCCCCTTCCCTTTCCTTCCCTTT CCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCCCTTCCTGTTCCTCTTCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0364 a0001c0001t0026g0364	1	3	0.3333	199	c.478 others(218): Show c.478-48668_478-48667insCCCCTCCCCTCCCTGTCCCTTCCTCC CTCCTGCCCTCCCTTCCTTCCTCCCTTCCGTCCTTCCTTCCTTCCTTTTC TTTCCCTCCCTCCTTCCTTTACTTCTTCCCTTCCCTTGCTTTCCTTCCCC TTCCCTTTCCTTCCCTTTCCCTTCCCCTTCTTCCCCTTCCCCTTCTTCCC CTTCCTGTTCCTCTTCTTCCCCT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EIF4G3_chr1_20801479_21181897	21179800	A A	ATATTATA others(192): Show ATATTATATATATTATATATTATATATAATACATTATATATATTATATAT TATATATAATACATTATATATATTATATAATATATATAATATATTATATA TAATATATAATATATTATATATATAATATAATATATATAATATATTATAT ATATAATATAATATATATAATATATATTTAATATATTATATATAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0291 a0001c0001t0005g0291	1	103	0.0097	199	c.-35 others(210): Show c.-3535_-3534insATATATTATATATAATATATTAAATATATATTAT ATATATTATATTATATATATAATATATTATATATATTATATTATATATAT AATATATTATATATTATATATAATATATTATATATATTATATAATATATA TAATGTATTATATATAATATATAATATATATAATGTATTATATATAATAT ATAATATATATAATA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		2904		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(192): Show GATATAACATATGCTATATATCATATATATCATATATAATGTTATATATG ATATATATGATATATAGCATATGTTATATATGATATATAACATATATATG ATATATGATATATAACATATGTTATATATGATATATAACATATGTTATAT ATCATATATATGTTATATATCATATATATCATATATATGTTATATATCAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0252 a0001c0001t0069g0252	1	56	0.0179	199	c.221 others(218): Show c.221+21529_221+21530insATGATATATAACATATATATGATATA TATGATATATAACATATATATGATATATAACATATGTTATATATCATATA TAACATATGTTATATATCATATATCATATATATGTTATATATCATATATA ACATATGCTATATATCATATATATCATATATAACATTATATATGATATAT ATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(192): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATGATATATAACATATA TATGATATATGATATATAACATATGTTATATATCATATATATGTTATATG TCATATATAACATATGCTATATACGATATATAACATATGCTATATATGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0038 a0001c0001t0042g0038	1	56	0.0179	199	c.221 others(218): Show c.221+21529_221+21530insATCATATATAGCATATGTTATATATC GTATATAGCATATGTTATATATGACATATAACATATATATGATATATAAC ATATGTTATATATCATATATCATATATATGTTATATATCATATATAACAT ATGCTATATATCATATATATCATATATAACATATGTTATATATCATATAT ATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084188	T T	TATATGTG others(192): Show TATATGTGATATATATGATATATATAACATATATGTGATATATATGATAT ATAACATATATGTGATATATATGATATATATAACATATATGTGATATACG ATATATATAACATATATGTGATATATGATATATATAACATATATGTGATA ATGTTATATATGATATGTATAACATATATGTGATATATGATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0003 a0001c0002t0030g0003	1	317	0.0032	199	c.221 others(218): Show c.221+21308_221+21309insGTTTTATATATCATATATCACATATA TGTTATACATATCATATATAACATTATCACATATATGTTATATATATCAT ATATCACATATATGTTATATATATCGTATATCACATATATGTTATATATA TCATATATATCACATATATGTTATATATCATATATATCACATATATGTTA TATATATCATATATATCACATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084213	T T	TATATGTG others(192): Show TATATGTGATATATATGATATATAACATATATGTGATATATATGATATAT ATAACATATATGTGATATATATATGATATATATAACATATATGTGATATA CGATATATATAACATATATGTGATATATGATATATATAACATATATGTGA TAATGTTATATATGATATGTATAATATATGTGATATATGATATATAAAAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	335	0.0030	199	c.221 others(218): Show c.221+21283_221+21284insGTTTTATATATCATATATCACATATA TTATACATATCATATATAACATTATCACATATATGTTATATATATCATAT ATCACATATATGTTATATATATCGTATATCACATATATGTTATATATATC ATATATATATCACATATATGTTATATATATCATATATATCACATATATGT TATATATCATATATATCACATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ERFL_chr19_41902704_41933449	41914857	C C	CCTCCACC others(192): Show CCTCCACCATCTCTGTCTCTCCCTCCCCTCCATCATCTCCGTCTCTGTCT CTCCCTCCCCCTCCACCATCTCCGTCTCTGTCTCTCCCTCCTCTTCCACC ATCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCCCCCTTTCCACCGT CTCTGTCTCTCCCCCCCTCCACCATCTCTGTCTCTGTCTCTCGCTCCCTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	138	0.0072	199	c.-13 others(216): Show c.-13-1926_-13-1925insAAGGGAGCGAGAGACAGAGACAGAGATG GTGGAGGGGGGGAGAGACAGAGACGGTGGAAAGGGGGGGAGACACGGTGG AGGGGGAGGGAGAGACAGAGATGGTGGAAGAGGAGGGAGAGACAGAGACG GAGATGGTGGAGGGGGAGGGAGAGACAGAGACGGAGATGATGGAGGGGAG GGAGAGACAGAGATGGTGGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
EXOC2_chr6_480154_698139	519376	C C	CCACCGAG others(192): Show CCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCAACAC CCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGAGAACCACCAC GCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAAACCACCACG CACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAACCACCACG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	268	0.0037	199	c.238 others(220): Show c.2380+13092_2380+13093insCGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGT GGACGGTGAGTGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FMN2_chr1_240086883_240480187	240184928	A A	ACTTTCTC others(192): Show ACTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA CACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0078 a0002c0023t0001g0078	1	145	0.0069	199	c.193 others(218): Show c.1931-3199_1931-3198insCTTCTCTTTCTCCCTCCTACACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FNDC11_chr20_63549159_63561695	63559416	A A	AGGAGTCA others(192): Show AGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGTCAGTCAG AGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGG GAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGATGGGAGTCAGTCA GAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02818.hp2 others(1): Show HG02630.hp1 HG02818.hp1 HG02818.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	4	319	0.0125	199	c.27 others(210): Show c.2796_*2797insGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAG GTGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGA GTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCA GATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGG AGTCAGGGTCAGGTC	FNDC11	ENSG00000125531.7	transcript	ENST00000370097.2	protein_coding		2722		chr20	TogoVar
FOXQ1_chr6_1307098_1319758	1317225	C C	CCCCTCCC others(192): Show CCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCC CCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCG CCCACCCCCTCCTCCCGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTT CTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03927.hp1 HG02129.hp1 HG03927.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0004 a0003c0002t0003 a0003c0002t0004	a0003c0002t0003g0000 a0003c0002t0004g0000 a0003c0002t0003g0000 a0003c0002t0004g0000	2	306	0.0065	199	c.33 others(210): Show c.3309_*3310insCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCTC CAGCCTACCCCTCCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCCCAGCC TACCCCCTCCCCCCGCCCACCCCCTCCTCCCGCCCCCTCCAGCCTACCCC TCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCCGCCCA CCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2468		chr6	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(192): Show CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGC GCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTTCCCCCCA CCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCA ACAACTGTGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	110	0.0091	199	c.109 others(214): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCACAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG CTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGGGGAGGGGGAA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar

Search by Variant

Search

Search Results