Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DGKQ_chr4_953887_978569	975748	CCTCTGCC others(109): Show CCTCTGCCCAGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCTG GCCCCCCATCGTCTGGGATATGAGGAGCCCCTGTGCCTGGCTGCCCAGTC TGGAAAGTGAGGAGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	2	438	0.0046	-116	c.-23 others(11): Show c.-2382_-2267del	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding		2180		chr4	TogoVar
DIRAS1_chr19_2709567_2726372	2713709	CCCGTCAC others(109): Show CCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCC TCCACCCTTCATCCCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0031 a0001c0001t0023g0031	2	412	0.0049	-116	c.33 others(11): Show c.3385_*3500del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		857		chr19	TogoVar
DLC1_chr8_13078361_13519851	13453399	TATGTGTA others(109): Show TATGTGTATATATATATATATATATGTGTATATATATATGTATATATATA CATATATATATGTATATATATACATATATATGTATATATATACATATATA TATGTATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0014 a0001c0004t0003g0014	1	212	0.0047	-116	c.102 others(21): Show c.1023+45534_1023+45649del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453402	GTGTATAT others(109): Show GTGTATATATATATATATATATGTGTATATATATATGTATATATATACAT ATATATATGTATATATATACATATATATGTATATATATACATATATATAT GTATATATATATACATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03490.hp2 HG03492.hp2 HG00423.hp1 HG03490.hp2 HG03492.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0007 a0001c0004 a0006c0007	a0001c0004t0003 a0006c0007t0001 a0001c0004t0003 a0006c0007t0001	a0001c0004t0003g0120 a0006c0007t0001g0163 a0006c0007t0001g0164 a0001c0004t0003g0120 a0006c0007t0001g0163 a0006c0007t0001g0164	3	212	0.0142	-116	c.102 others(21): Show c.1023+45531_1023+45646del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DMD_chrX_31114222_33216549	33190885	TAATATTA others(109): Show TAATATTATATATTATATAATATATAATATTATATATATAATATTATATA TATATATAATATATAATATTATATATATATATAATATATAATATTATATA TATATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18522.hp1 HG03130.hp1 NA18522.hp1	a0002 a0014 a0002 a0014	a0002c0020 a0014c0051 a0002c0020 a0014c0051	a0002c0020t0030 a0014c0051t0011 a0002c0020t0030 a0014c0051t0011	a0002c0020t0030g0125 a0014c0051t0011g0121 a0002c0020t0030g0125 a0014c0051t0011g0121	2	126	0.0159	-116	c.31+ others(17): Show c.31+20281_31+20396del	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	1/78			chrX	TogoVar
DPH7_chr9_137549444_137583925	137565250	ACTGTCTG others(109): Show ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG02280.hp2 others(9): Show HG00597.hp2 HG01123.hp1 HG02280.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0019 a0001c0001t0002g0257 a0001c0001t0002g0258 others(8): Show a0001c0001t0002g0019 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0304 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0008t0002g0309	12	340	0.0353	-116	c.641 others(14): Show c.641-212_641-97del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565305	GTGACTGT others(109): Show GTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTC CCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGT GAGGAAGCTCCCCTGGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	340	0.0029	-116	c.641 others(15): Show c.641-267_641-152del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565388	TGGGTGAC others(109): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02055.hp1 others(2): Show HG01106.hp2 HG01891.hp2 HG02055.hp1 HG02738.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0200 a0002c0002t0001g0235	5	340	0.0147	-116	c.641 others(15): Show c.641-350_641-235del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565752	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02258.hp1 NA20805.hp1 HG00438.hp1 HG02258.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0276 a0001c0001t0002g0288 a0001c0001t0002g0142 a0001c0001t0002g0276 a0001c0001t0002g0288	3	340	0.0088	-116	c.641 others(15): Show c.641-714_641-599del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565774	GGGGTGAC others(109): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	340	0.0029	-116	c.641 others(15): Show c.641-736_641-621del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565804	GGGGTGAC others(109): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-116	c.641 others(15): Show c.641-766_641-651del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565898	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	340	0.0029	-116	c.641 others(15): Show c.641-860_641-745del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566132	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	340	0.0029	-116	c.641 others(16): Show c.641-1094_641-979del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566190	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	340	0.0029	-116	c.641 others(17): Show c.641-1152_641-1037del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566242	GGGGTGAC others(109): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02818.hp1 HG00621.hp2 HG02818.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0084 a0005c0010t0001g0148 a0001c0001t0001g0084 a0005c0010t0001g0148	2	340	0.0059	-116	c.641 others(17): Show c.641-1204_641-1089del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566278	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	340	0.0029	-116	c.641 others(17): Show c.641-1240_641-1125del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566784	TCTGTCTG others(109): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0306 a0001c0001t0002g0306	1	340	0.0029	-116	c.641 others(17): Show c.641-1746_641-1631del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567190	GGGGTGAC others(109): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02080.hp1 HG02738.hp1 others(2): Show HG01074.hp2 HG02080.hp1 HG02738.hp1 HG03130.hp1 NA19065.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0001c0001t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0002g0283 a0003c0003t0001g0024	5	340	0.0147	-116	c.641 others(17): Show c.641-2152_641-2037del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567520	TGTCTGTG others(109): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG01109.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0226 a0001c0001t0002g0025 a0001c0001t0001g0226 a0001c0001t0002g0025	2	340	0.0059	-116	c.641 others(17): Show c.641-2482_641-2367del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
ELL2_chr5_95880098_95966851	95927662	CGTGTGTA others(109): Show CGTGTGTATATAGACATACACACACACGTGTGTATATAGACATACACACA CACATATGTGTGTATATAGACATACACACACACATATGTGTGTATATAGA CATACACACACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	314	0.0032	-116	c.196 others(17): Show c.196-8233_196-8118del	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018443	TATAATAT others(109): Show TATAATATATATTATATTATATAATATATATTATATATTATATATTATAT TATATAATATATATTATATATTATATAATATATATTATATTATATAATAT ATATTATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0001 a0012c0026t0001	a0012c0026t0001g0087 a0012c0026t0001g0087	1	306	0.0033	-116	c.534 others(17): Show c.534-2875_534-2760del	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ETS1_chr11_128453765_128592558	128585077	AGAAAGAA others(109): Show AGAAAGAAAGAAAGGAAAGAAAGAAAGGAAGGAAGGAAGGAAAGAAAGAA GAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0137 a0001c0001t0004g0137	1	286	0.0035	-116	c.-15 others(17): Show c.-15+2295_-15+2410del	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETV6_chr12_11644674_11900377	11874537	CGTGTGTA others(109): Show CGTGTGTACACACATATATGTGTATGTGCGTGTGTACACATATATGTGTG TATACACATATATGTGTATGTGCGTGTGTACACACATATGTGTATGTGTG TGTGTATATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00558.hp2 others(161): Show HG00140.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(103): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0086 a0001c0001t0088 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0104 a0001c0001t0105 a0001c0001t0107 a0001c0001t0113 a0001c0001t0116 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0130 a0001c0001t0131 a0001c0001t0134 a0001c0001t0135 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0022 a0001c0002t0024 a0001c0002t0026 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0034 a0001c0002t0048 a0001c0002t0057 a0001c0002t0074 a0001c0002t0091 a0001c0002t0103 a0001c0002t0109 a0001c0002t0117 a0001c0002t0132 a0001c0003t0007 a0001c0003t0038 a0001c0005t0066	a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0079 others(161): Show a0001c0001t0001g0040 a0001c0001t0001g0051 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0232 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0115 a0001c0001t0002g0129 a0001c0001t0002g0140 a0001c0001t0002g0156 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0218 a0001c0001t0002g0240 a0001c0001t0003g0015 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0118 a0001c0001t0003g0185 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0245 a0001c0001t0004g0211 a0001c0001t0004g0235 a0001c0001t0004g0241 a0001c0001t0005g0017 a0001c0001t0005g0045 a0001c0001t0005g0060 a0001c0001t0005g0215 a0001c0001t0006g0144 a0001c0001t0007g0035 a0001c0001t0007g0075 a0001c0001t0007g0184 a0001c0001t0008g0213 a0001c0001t0009g0013 a0001c0001t0009g0148 a0001c0001t0009g0162 a0001c0001t0009g0227 a0001c0001t0010g0059 a0001c0001t0010g0163 a0001c0001t0010g0249 a0001c0001t0011g0029 a0001c0001t0011g0056 a0001c0001t0014g0102 a0001c0001t0015g0038 a0001c0001t0015g0063 a0001c0001t0015g0122 a0001c0001t0015g0209 a0001c0001t0016g0061 a0001c0001t0016g0210 a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0019g0200 a0001c0001t0020g0064 a0001c0001t0022g0181 a0001c0001t0023g0065 a0001c0001t0025g0032 a0001c0001t0025g0089 a0001c0001t0027g0197 a0001c0001t0028g0043 a0001c0001t0028g0168 a0001c0001t0031g0255 a0001c0001t0032g0121 a0001c0001t0036g0221 a0001c0001t0037g0098 a0001c0001t0040g0023 a0001c0001t0042g0014 a0001c0001t0044g0020 a0001c0001t0045g0194 a0001c0001t0046g0049 a0001c0001t0047g0039 a0001c0001t0049g0182 a0001c0001t0051g0202 a0001c0001t0053g0233 a0001c0001t0054g0137 a0001c0001t0055g0154 a0001c0001t0056g0149 a0001c0001t0059g0099 a0001c0001t0061g0062 a0001c0001t0065g0178 a0001c0001t0067g0030 a0001c0001t0069g0087 a0001c0001t0071g0085 a0001c0001t0075g0248 a0001c0001t0076g0071 a0001c0001t0078g0177 a0001c0001t0080g0008 a0001c0001t0081g0112 a0001c0001t0086g0153 a0001c0001t0088g0158 a0001c0001t0093g0114 a0001c0001t0094g0111 a0001c0001t0096g0100 a0001c0001t0097g0066 a0001c0001t0098g0031 a0001c0001t0101g0206 a0001c0001t0104g0097 a0001c0001t0105g0054 a0001c0001t0107g0151 a0001c0001t0113g0250 a0001c0001t0116g0190 a0001c0001t0120g0058 a0001c0001t0121g0229 a0001c0001t0122g0208 a0001c0001t0123g0125 a0001c0001t0124g0107 a0001c0001t0125g0012 a0001c0001t0126g0019 a0001c0001t0127g0242 a0001c0001t0128g0217 a0001c0001t0130g0096 a0001c0001t0131g0050 a0001c0001t0134g0230 a0001c0001t0135g0124 a0001c0002t0001g0095 a0001c0002t0001g0165 a0001c0002t0001g0238 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0183 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0159 a0001c0002t0004g0076 a0001c0002t0004g0110 a0001c0002t0004g0257 a0001c0002t0005g0179 a0001c0002t0005g0205 a0001c0002t0007g0006 a0001c0002t0007g0067 a0001c0002t0008g0119 a0001c0002t0008g0138 a0001c0002t0010g0053 a0001c0002t0012g0239 a0001c0002t0014g0246 a0001c0002t0017g0201 a0001c0002t0018g0088 a0001c0002t0020g0116 a0001c0002t0022g0171 a0001c0002t0024g0044 a0001c0002t0024g0057 a0001c0002t0026g0103 a0001c0002t0029g0007 a0001c0002t0030g0120 a0001c0002t0032g0077 a0001c0002t0034g0222 a0001c0002t0034g0224 a0001c0002t0048g0187 a0001c0002t0057g0094 a0001c0002t0074g0001 a0001c0002t0091g0048 a0001c0002t0103g0010 a0001c0002t0109g0042 a0001c0002t0117g0047 a0001c0002t0132g0002 a0001c0003t0007g0024 a0001c0003t0038g0131 a0001c0005t0066g0052	164	262	0.6260	-116	c.100 others(19): Show c.1009+4576_1009+4691del	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137394146	TTTCCCTA others(109): Show TTTCCCTAACCCTGGCCTCCCAGCCTCTGCTTCCCTAACCCCAGCCTCCC AGCCTCCGCTTCCCTAACCCCGGCCTCCCAGCCTCCGCTTCCCTAACCCC GGCCTCCCAGCCTCCGC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02280.hp2 HG03017.hp1 others(3): Show HG01993.hp1 HG02280.hp2 HG03017.hp1 NA18951.hp1 NA19007.hp1 NA19066.hp2	a0001 a0002 a0024 others(1): Show a0001 a0002 a0024 a0026	a0001c0001 a0002c0002 a0024c0023 others(1): Show a0001c0001 a0002c0002 a0024c0023 a0026c0013	a0001c0001t0001 a0002c0002t0001 a0024c0023t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0024c0023t0001 a0026c0013t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0002c0002t0001g0045 a0024c0023t0001g0049 a0026c0013t0001g0074	6	82	0.0732	-116	c.55+ others(15): Show c.55+1041_55+1156del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	2/21			chr9	TogoVar
EXOC3L4_chr14_103089725_103115559	103109573	TCTCCCTC others(109): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19074.hp2 HG03516.hp2 NA19074.hp2	a0002 a0002	a0002c0005 a0002c0034 a0002c0005 a0002c0034	a0002c0005t0002 a0002c0034t0001 a0002c0005t0002 a0002c0034t0001	a0002c0005t0002g0288 a0002c0034t0001g0249 a0002c0005t0002g0288 a0002c0034t0001g0249	2	404	0.0050	-116	c.197 others(17): Show c.1977-449_1977-334del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FMN1_chr15_32760544_33199714	32777788	TATATATT others(109): Show TATATATTATGTATAATATAATACATTTATTTATATATTATGTATAATAT ATAATACATTAATTATATATTATGTATAATATATAATACATTATATATTA TGTATAATATATAATAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0091 a0003c0091	a0003c0091t0002 a0003c0091t0002	a0003c0091t0002g0096 a0003c0091t0002g0096	1	196	0.0051	-116	c.413 others(17): Show c.4131-985_4131-870del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32777817	TTTATATA others(109): Show TTTATATATTATGTATAATATATAATACATTAATTATATATTATGTATAA TATATAATACATTATATATTATGTATAATATATAATACATTATATATTAT GTATAATATATAATACA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00738.hp2 others(26): Show HG00408.hp2 HG00423.hp1 HG00738.hp2 HG01070.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02572.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18952.hp1 NA18956.hp2 NA18963.hp1 NA18967.hp2 NA18990.hp1 NA18991.hp1 NA19001.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19091.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0007 a0009 a0010 a0020 a0026 a0039 a0049	a0001c0001 a0001c0002 a0001c0050 others(12): Show a0001c0001 a0001c0002 a0001c0050 a0001c0074 a0002c0005 a0003c0006 a0004c0010 a0005c0004 a0007c0011 a0009c0026 a0010c0016 a0020c0060 a0026c0073 a0039c0055 a0049c0077	a0001c0001t0001 a0001c0001t0010 a0001c0001t0034 others(20): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0034 a0001c0001t0037 a0001c0001t0085 a0001c0002t0001 a0001c0050t0007 a0001c0074t0001 a0002c0005t0001 a0002c0005t0025 a0003c0006t0001 a0004c0010t0001 a0005c0004t0003 a0007c0011t0001 a0007c0011t0009 a0007c0011t0038 a0007c0011t0078 a0009c0026t0081 a0010c0016t0001 a0020c0060t0007 a0026c0073t0010 a0039c0055t0010 a0049c0077t0001	a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0066 others(26): Show a0001c0001t0001g0013 a0001c0001t0001g0050 a0001c0001t0001g0066 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0010g0053 a0001c0001t0034g0007 a0001c0001t0037g0022 a0001c0001t0085g0165 a0001c0002t0001g0054 a0001c0050t0007g0026 a0001c0074t0001g0172 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0025g0124 a0003c0006t0001g0195 a0004c0010t0001g0134 a0005c0004t0003g0162 a0007c0011t0001g0146 a0007c0011t0009g0067 a0007c0011t0038g0107 a0007c0011t0078g0016 a0009c0026t0081g0087 a0010c0016t0001g0068 a0020c0060t0007g0191 a0026c0073t0010g0048 a0039c0055t0010g0180 a0049c0077t0001g0032	29	196	0.1480	-116	c.413 others(18): Show c.4131-1014_4131-899del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32949940	CATATATA others(109): Show CATATATATATATATATATATATATACACACATATATATACACACACATA TATATACACATACACATATATATATACACATATATATATATATACACATA TATATATATATACACAT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0006 a0008c0009t0006	a0008c0009t0006g0064 a0008c0009t0006g0064	1	196	0.0051	-116	c.313 others(21): Show c.3138+14051_3138+14166del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FNIP1_chr5_131636714_131802017	131785029	CATATATA others(109): Show CATATATATGATATATATGACTATATATATCATATATATGATATATATGA CATATATATATGATATATATGACTATATATATATCATATATATGATATAT ATGACTATATATATAGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	328	0.0031	-116	c.92+ others(17): Show c.92+11685_92+11800del	FNIP1	ENSG00000217128.13	transcript	ENST00000510461.6	protein_coding	1/17			chr5	TogoVar
GABRA2_chr4_46238548_46395128	46377139	CCTCTGCC others(109): Show CCTCTGCCCGGCCGCCACCCCGTCTGGGAAGTGAGGAGCGTCTCTGCCCG GCCGCCCATCGTCTGGGATGTGAGGAGCCCCTCTTCCTGGCTGCCCAGTC TGGAAAGTGAGGAGCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0063 a0001c0001t0019g0063	1	258	0.0039	-116	c.187 others(17): Show c.187+8819_187+8934del	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241802241	GGAATGAG others(109): Show GGAATGAGACCTGGGAGCCCCACAGCCCCTGCCCAAGGGCGTCCCCAGCG CTCCCCCGCTTCTCTGGCCTCCTAGTTGTGCACAGGCCCGGCTCTCCCCA CCCTGTGACCTTCGCTT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	314	0.0032	-116	c.375 others(15): Show c.375+206_375+321del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	3/3			chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805186	GCCAGGGA others(109): Show GCCAGGGACGTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	314	0.0032	-116	c.10 others(11): Show c.1021_*1136del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		900		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805284	CCTTCCCT others(109): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	314	0.0032	-116	c.11 others(11): Show c.1119_*1234del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		998		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807379	CCCCCCTC others(109): Show CCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	314	0.0032	-116	c.32 others(11): Show c.3214_*3329del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3093		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71680263	CCTCCCTT others(109): Show CCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCTATCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCGCGCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp1 others(20): Show HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG02129.hp1 HG03492.hp1 HG03492.hp2 HG03710.hp2 NA18983.hp1 NA19000.hp2 NA19060.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0004t0003 a0001c0004t0005 a0002c0010t0003	a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0044 others(20): Show a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0002g0018 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0005g0051 a0001c0001t0007g0055 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0009g0061 a0001c0001t0013g0075 a0001c0001t0016g0043 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0007g0060 a0001c0002t0008g0025 a0001c0004t0003g0013 a0001c0004t0005g0058 a0002c0010t0003g0009	23	76	0.3026	-116	c.150 others(19): Show c.1500+2961_1500+3076del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GATA5_chr20_62458497_62480995	62476920	TCTTTCTT others(109): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTC TTTCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCT TTTTTCTTTCTTCCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG02630.hp2 HG02896.hp2 HG00609.hp1 HG02630.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0005 a0001c0004t0007 a0001c0004t0003 a0001c0004t0005 a0001c0004t0007	a0001c0004t0003g0287 a0001c0004t0005g0279 a0001c0004t0007g0282 a0001c0004t0003g0287 a0001c0004t0005g0279 a0001c0004t0007g0282	3	382	0.0079	-116	c.-11 others(11): Show c.-1128_-1013del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		926		chr20	TogoVar
GIPC2_chr1_78040966_78143444	78061615	TTCAGCCT others(109): Show TTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGAGCCACCAAGCCCAGC TAATTTATAATGAAGTGTTCTTTACACTAATTTTAAACAGGCCCCAGTTT CAAGTGATTTTCCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00639.hp2 others(29): Show HG00099.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02273.hp2 HG02300.hp1 HG02717.hp1 HG02735.hp2 HG03017.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp2 NA19030.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014	a0001c0001t0002g0044 a0001c0001t0003g0050 a0001c0001t0003g0053 others(28): Show a0001c0001t0002g0044 a0001c0001t0003g0050 a0001c0001t0003g0053 a0001c0001t0004g0002 a0001c0001t0004g0008 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0296 a0001c0001t0004g0314 a0001c0001t0005g0041 a0001c0001t0005g0288 a0001c0001t0014g0043	32	332	0.0964	-116	c.240 others(19): Show c.240+15295_240+15410del	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
GPAA1_chr8_144077634_144091216	144089564	ACATATAC others(109): Show ACATATACATATATATATATATATGTATATACATATATATATATATATAT ACATATATATATATATACATATATATATATATACATATATATATATATAT ATATACATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	338	0.0030	-116	c.34 others(11): Show c.3440_*3555del	GPAA1	ENSG00000197858.12	transcript	ENST00000355091.9	protein_coding		3349		chr8	TogoVar
GPR68_chr14_91227532_91249704	91244823	CCAGCCAG others(109): Show CCAGCCAGAGGCTGAGGGCGGCGGAATGGCTCTCTCCACGCATCTTCCTC TGCTCTCCATGCAACCCAGAGTCAGTGAGCAGCCTCGCTGGGAATGTGAA AGCCTGAGCTAGGGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	420	0.0024	-116	c.-77 others(9): Show c.-772_-657del	GPR68	ENSG00000119714.11	transcript	ENST00000650645.1	protein_coding		120		chr14	TogoVar
GPSM1_chr9_136322539_136364601	136352168	AATGCTGC others(109): Show AATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGTTGCTGTTG GTGACACCGATGCTGCGCCGTTGCTGTTGGTGACACCGATGCTGCGCCGT TGCTGTTGGTGACACCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03516.hp1 HG01256.hp2 HG01258.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0153 a0001c0001t0001g0008 a0001c0001t0001g0153	3	400	0.0075	-116	c.145 others(19): Show c.1455+2460_1455+2575del	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144829	TAGAAAGT others(109): Show TAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGACACGAGGGGGT CCCAGAGTCTAGAAAGTGTCCCCAGGGGTGTGGGGACCGGGGTGAGAGGA AGGGGGTCCCAGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	298	0.0034	-116	c.394 others(15): Show c.394-881_394-766del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145092	TGAGAGGA others(109): Show TGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGAGGGGTGGGG ACCGGGGTGAGAGGAAGGGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGG TGTGGGGACCGGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp2 HG02897.hp1 HG01109.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0197 a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0001t0001g0197 a0001c0003t0001g0195 a0001c0003t0001g0196	3	298	0.0101	-116	c.394 others(15): Show c.394-630_394-515del	GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN2D_chr19_48388668_48449931	48430429	CCTCAAGT others(109): Show CCTCAAGTGATTGGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGC GGGAGCCATAGCTCCCAGCTGATAGGGGGTTTCACCATGTTGGCCAGGCT GGTCTCAAACTCCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02723.hp1 others(2): Show HG02615.hp2 HG02622.hp2 HG02723.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0002t0002g0036 a0001c0002t0002g0037	5	366	0.0137	-116	c.225 others(19): Show c.2252+8491_2252+8606del	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GTF3C2_chr2_27320854_27361764	27359344	AGTGAGGA others(109): Show AGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCG CCTCTGCCCCGCCGCCCCATCTGGGATGTGAGGAGCGCCTCTGCCCGGCC GCGACCCCGTCTGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG02257.hp2 others(6): Show HG00733.hp2 HG01167.hp1 HG02257.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0002t0001g0151 others(6): Show a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158	9	286	0.0315	-116	c.-27 others(11): Show c.-2746_-2631del	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding		2581		chr2	TogoVar
GYG2_chrX_2823930_2887818	2845015	ATGTGTAT others(109): Show ATGTGTATGTATATTTATATACACATGTGTATGTATATATACACGTGTGT ATGTATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTAT GTATATTTATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG04204.hp1 NA18998.hp2 HG00408.hp1 HG04204.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0004t0001g0103 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0004t0001g0103	3	316	0.0095	-116	c.149 others(17): Show c.149+1685_149+1800del	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
HDLBP_chr2_241222291_241320672	241243534	GGCCTGGT others(109): Show GGCCTGGTACAGTACCTGCAGCTCAGTCACCAGGAAACAGTGCCTGCAGC TCAGTCGGGGCCTGGTATAGTACCTACAGCTCAGACACCAGGAAACAGTG CCTGCAGCTCAGTCGGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0114 a0002c0002t0001g0115	2	354	0.0057	-116	c.195 others(17): Show c.1951-972_1951-857del	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	16/27			chr2	TogoVar
IL3RA_chrX_1331785_1387689	1365358	GGGGTGAG others(109): Show GGGGTGAGCCGGGTGCGCGGGGTGAGCCGGCTGCGCGGGGTGAGCGGGGT GAGCGGGGTGAGCGGGGTGAGCGGGGTGCGCGGGGTGAGCGGGGTGAGCG GGGTGCGCGGGGTGAGC	G G	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0007 a0013c0010t0001g0007	1	115	0.0087	-116	c.874 others(15): Show c.874+110_874+225del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INMT_chr7_30747135_30762602	30760593	ACTGATGG others(109): Show ACTGATGGACACTTGGTGGTGTTTGTGTTTGGGCTATTGTGAATAATGCC GTTATGAGGCCAGCCACAGGTAAAACTCACTGAATTCTCACAACAGCTCA TGTGGACAGTATTATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0008 a0009c0012t0008	a0009c0012t0008g0009 a0009c0012t0008g0009	1	434	0.0023	-116	c.47 others(11): Show c.4743_*4858del	INMT	ENSG00000241644.2	transcript	ENST00000013222.5	protein_coding		2992		chr7	TogoVar
INO80D_chr2_205988721_206091174	205988822	AAAATAAA others(109): Show AAAATAAATAAAATAAATAAAATAAAATAAATAAAATAAATAAAATAAAT AAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAA ATAAAATAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02451.hp2 others(2): Show HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0049 a0002c0002t0001 a0002c0002t0049	a0002c0002t0001g0104 a0002c0002t0001g0128 a0002c0002t0001g0161 others(2): Show a0002c0002t0001g0104 a0002c0002t0001g0128 a0002c0002t0001g0161 a0002c0002t0001g0170 a0002c0002t0049g0145	5	334	0.0150	-116	c.15 others(13): Show c.15430_*15545del	INO80D	ENSG00000114933.16	transcript	ENST00000403263.6	protein_coding		4898		chr2	TogoVar
INPP5A_chr10_132532787_132788480	132540992	CCCTCTTG others(109): Show CCCTCTTGTTTTTGTTTTAGACAGGGTCTCATTCTGTCGCCCAGGCTAGA GTGCTGTAGTGGTGCGGTCACAACTCACTGCAGCCTCGACCGCCCTGACT CAGGTGAACCTCAGCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG01952.hp1 others(6): Show HG01109.hp2 HG01261.hp1 HG01952.hp1 HG02015.hp2 HG02145.hp1 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0010 a0001c0005t0018 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0005t0018 a0001c0005t0019	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(6): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0005t0018g0038 a0001c0005t0019g0035	9	204	0.0441	-116	c.75+ others(15): Show c.75+2825_75+2940del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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