Joint Open Genome and Omics Platform (JoGo)

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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
CYP4F11_chr19_15907377_15939529	15932785	G G	GAGAGGAA others(393): Show GAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGAGGAGAGGAGTGAGTGAGCGAG GAGAGGAGTGAGTGAGCGAGCAGAGGAGTGAGTGAGCGAGCAGAGGAGTG AGTGAGCGAGAAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0353 a0002c0001t0002g0353	1	336	0.0030	400	c.198 others(417): Show c.198+1425_198+1426insGCCCGCTCACTCATTCCTCTGCCCGCTC ACTCATTCCTCTTCTCGCTCACTCACTCCTCTGCTCGCTCACTCACTCCT CTGCTCGCTCACTCACTCCTCTCCTCGCTCACTCACTCCTCTCCTCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCT CTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTC ACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCT CTGCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933065	G G	GAGAGGAG others(393): Show GAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0085 a0002c0001t0085	a0002c0001t0085g0159 a0002c0001t0085g0159	1	324	0.0031	400	c.198 others(417): Show c.198+1145_198+1146insGCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTC ACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCT CTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTC ACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCT CTGCCCGCTCACTCACTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933081	T T	TGAGGAGA others(393): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AGTGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0095 a0003c0003t0095	a0003c0003t0095g0104 a0003c0003t0095g0104	1	196	0.0051	400	c.198 others(417): Show c.198+1129_198+1130insGCTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTC ATTCTTCTCCTCACTCACTCACTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933225	G G	GAGAGGAG others(393): Show GAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0184 a0002c0001t0013g0184	1	323	0.0031	400	c.198 others(415): Show c.198+985_198+986insGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933245	G G	GAGAGGAG others(393): Show GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0180 a0002c0001t0006g0180	1	336	0.0030	400	c.198 others(415): Show c.198+965_198+966insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933265	G G	GAGAGGAA others(393): Show GAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0125 a0001c0002t0125	a0001c0002t0125g0175 a0001c0002t0125g0175	1	343	0.0029	400	c.198 others(415): Show c.198+945_198+946insGCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT CCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933285	G G	GAGAGGAG others(393): Show GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGG GAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTG AGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG CAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTG AGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0383 a0002c0001t0006g0383	1	340	0.0029	400	c.198 others(415): Show c.198+925_198+926insGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCT GCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCAC TCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCT CCCCGCTCACTCACTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933645	G G	GAGAGGAA others(393): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGG C	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0329 a0002c0001t0002g0329	1	345	0.0029	400	c.198 others(415): Show c.198+565_198+566insGCCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCAC TCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCT CCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933901	T T	TGAGGAGA others(393): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAG TGAGCAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAG C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0035 a0002c0001t0035	a0002c0001t0035g0009 a0002c0001t0035g0009	1	131	0.0076	400	c.198 others(415): Show c.198+309_198+310insGCTCACTCATTCCTCTGCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTGCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933905	C C	GAGAGGAA others(393): Show GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGCAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG GAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATG AGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGG C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0032 a0002c0001t0032	a0002c0001t0032g0349 a0002c0001t0032g0349	1	162	0.0062	400	c.198 others(415): Show c.198+306_198+307insCCCGCTCACTCATTCCTCTCCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTGCCCACTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTC CCCGCTCACTCATTCCTCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15934041	C C	CGGGCAGA others(393): Show CGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19082.hp2 HG00323.hp2 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0037 a0001c0004t0004g0038 a0001c0004t0004g0037 a0001c0004t0004g0038	2	329	0.0061	400	c.198 others(415): Show c.198+169_198+170insACTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTGCCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241765355	C C	CTTGGGGA others(393): Show CTTGGGGAGATGGGAGCCCTGGGCTGAGGGAGTAGGAAGAGGGTGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATAGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03579.hp2 NA18906.hp1 HG02965.hp1 HG03579.hp2 NA18906.hp1	a0007 a0010 a0007 a0010	a0007c0007 a0010c0010 a0007c0007 a0010c0010	a0007c0007t0005 a0010c0010t0005 a0007c0007t0005 a0010c0010t0005	a0007c0007t0005g0348 a0010c0010t0005g0026 a0007c0007t0005g0348 a0010c0010t0005g0026	3	403	0.0074	400	c.130 others(419): Show c.1307-2337_1307-2336insTGGGCTGAGGGAGTAGGAAGAGGGTG GAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGG GAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGG GAGAACTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGG GAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGG GAGAACTTGGGGAGATAGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGG GAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGG GAGAAGTTGGGGAGATAGGAGCCCCAGGCTGAGGGAGTAGGAAGAGGGGG GAGAAGTTGGGGAGATGGGAGCCC	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766767	G G	GGAGCCCC others(393): Show GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG GGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATG C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03710.hp2 NA18945.hp1 others(1): Show HG02735.hp1 HG03710.hp2 NA18945.hp1 NA19002.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0012 a0003c0003t0005 a0003c0003t0014 others(1): Show a0002c0002t0012 a0003c0003t0005 a0003c0003t0014 a0004c0005t0005	a0002c0002t0012g0225 a0003c0003t0005g0360 a0003c0003t0014g0319 others(1): Show a0002c0002t0012g0225 a0003c0003t0005g0360 a0003c0003t0014g0319 a0004c0005t0005g0042	4	407	0.0098	400	c.130 others(417): Show c.1307-906_1307-905insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(393): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTACAACCATTACCACCATCACTGCTATAACCACCACCACCACCAC CATTATCACCATCACCACCACCACCACTATAACCACCACCACCACCACCA TTATCACCATCACCATCACACACCACAACTACCACCACCACCACCATCAC CACTATAACCACTAGCACCACCACTACTATAACCATCACCACCGCTATAA CCACCATCACCACCACCACTACCACTACTGTAACCATCACCACCATCACT G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	45	0.0222	400	c.724 others(419): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGT GGTGGTGGTGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGCAG TGATGGTGGTAATGGTTGTAGTAGTGGTAGTGGTGGTGATGATGATGGTG GTTATAGTGGTGGTGGTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGT TATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAG CAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(393): Show CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCC ACCCGCACCGGCACCCCCACCCTCACCCTCACCCCCACCCCCACCCCCAC CCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCACCCCCACCCCC ACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCAC CCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0183 a0004c0004t0001g0183	1	271	0.0037	400	c.39 others(411): Show c.3966_*3967insCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGG GTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGAGGGTG GGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(393): Show GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGGGA GGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGG GAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGGG AGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	52	0.0192	400	c.158 others(417): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTC CCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTCCCTTCT TCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCTCCCTTCTTCTC CCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTC CCTTCTTCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	748222	G G	GTCTGCGG others(393): Show GTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGG GTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTG GGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTG GGATGAGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGG C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	33	0.0303	400	c.18+ others(417): Show c.18+10413_18+10414insGGGCTCTGCGGTGGGATGGGCGGGTCTG CGGTGGGATGGGGAGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGAGCTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGAGCGGGTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATG GGGGGCTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH9_chr17_11593470_11974748	11712071	T T	TATATTTA others(393): Show TATATTTATATATAAATATATATATTTGTATATATATATAAATATATATA TTTGTATATATATTTATATATAAATATATATATTTGTATATATATTTATA TATAAATATATATATTTGTATATATATATAAATATATATATTTGTATATA TATTTATATATATATATTTGTATATATATTTATATATAAATATATATATA AATATATATATTTATATATAAATACATATATTTATATATTTATATATAAA TATATGTATTTATATAAATTTATATATATATATATTTATATATAAATATA TATATATATAAATATATATATTTATATATATTTATATATAAATATATATA TATAAATATATATATTTATATATATATATATTTATATATATTTATATATA A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0005 a0005	a0005c0070 a0005c0070	a0005c0070t0001 a0005c0070t0001	a0005c0070t0001g0026 a0005c0070t0001g0026	1	170	0.0059	400	c.555 others(419): Show c.5552+6890_5552+6891insTTATATATAAATATATATATTTGTAT ATATATATAAATATATATATTTGTATATATATTTATATATAAATATATAT ATTTGTATATATATTTATATATAAATATATATATTTGTATATATATATAA ATATATATATTTGTATATATATTTATATATATATATTTGTATATATATTT ATATATAAATATATATATAAATATATATATTTATATATAAATACATATAT TTATATATTTATATATAAATATATGTATTTATATAAATTTATATATATAT ATATTTATATATAAATATATATATATATAAATATATATATTTATATATAT TTATATATAAATATATATATATAAATATATATATTTATATATATATATAT TTATATATATTTATATATAAATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	26/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(393): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	247	0.0040	400	c.162 others(417): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(393): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCC C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	247	0.0040	400	c.162 others(417): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC CTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCTTCCCTCCTTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(393): Show ATATTTACACATATATATGTAAATATACCTATGTGTATATTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG00639.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0166 a0001c0001t0003g0167	2	4	0.5000	400	c.477 others(419): Show c.477+47644_477+47645insATATTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGT AAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACACAT ATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(393): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGT TTACACATATATGTGTAAATATACCTATATGTTTACACATATATATGTGT AAATATACCTATATGTTTACACATATATATGTGTAAATATACCTATGTGT G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	3	0.3333	400	c.477 others(419): Show c.477+47644_477+47645insATGTTTACACATATATATGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTGTAAATATACCTATATGTTTACACATATATATGTGTAAATATACCTAT ATGTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACACAT ATATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(393): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATTTATATAAATACATTAT ATTTTATATATTTATATAAATACATTATATTTTATATATTTATATAAATA TATTATATTTTATATAATATATTATATATAATATATATAATATATATAAT A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	205	0.0049	400	c.-53 others(419): Show c.-53-10372_-53-10371insTATTATATATATTATATATATTATAT ATAATATATTATATAAAATATAATATATTTATATAAATATATAAAATATA ATGTATTTATATAAATATATAAAATATAATGTATTTATATAAATATATTA TATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAG TCATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATTA TATAAATATATAATATATAGTCATATATTATATAAATATATAATATATAG TCATATATTATATAAATATATAATATATAGTCATATATTATATAAATATA TAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137716190	G G	GTGGTGTC others(393): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC GTGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	87	0.0115	400	c.86- others(413): Show c.86-379_86-378insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG02723.hp2 others(4): Show HG00642.hp1 HG01261.hp2 HG02723.hp2 HG02970.hp1 HG03209.hp2 HG03927.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0009 a0001c0002t0001g0153 a0001c0002t0001g0154 others(4): Show a0001c0001t0002g0009 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0157 a0001c0002t0001g0165 a0001c0002t0001g0237	7	8	0.8750	400	c.976 others(415): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02615.hp1 HG00642.hp2 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0232 a0001c0002t0001g0150 a0001c0002t0001g0232	2	3	0.6667	400	c.976 others(415): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	2	0.5000	400	c.976 others(415): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	2	0.5000	400	c.976 others(415): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCC TCTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAG CTGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGC CACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	2	0.5000	400	c.976 others(415): Show c.976-879_976-878insCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTCA CCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTCC CAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGGG TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTGCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44876573	T T	TGGGGGTC others(393): Show TGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGCAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCACCCGCCCCGTCCGGGAGGCAAGGGGCGCCT CTGCCCGGCCACCCCTACTGGGAATTGAGGAGCCCCTCTGCCCGGCCAGC TGCCCCGTACGGGAGGGAGGTGAGGGGGTCAGCCCCCCGCCCGGCCAGCC ACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGG G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	2	0.5000	400	c.976 others(415): Show c.976-879_976-878insCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCTC ACCTCCCTCCCGTACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCAATTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTTGCCTCCCGGACGGGGCGG GTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTGCCGGACGGGGCGGC TGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCTGGCGGGGGCTGACCCCC	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	8/11			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(393): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GTGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAGGTGTGGA GATAGTGGGGGAAGAGCAAGCGTGGAGGTGTTGGGAGAAGCAAGTGTGGA TGTGCAAGCGTGGAGGTGGGGGGCTTGGCGCAAGCGTGGAGGTGCTGGGG GGAGGAGCAAGGTGGAGGTTGGGACTGGAGCAAATGTGGAGGTGCTGGGG GGAGGAGCAAGCATGGAGGTGGGGAGGTTGGAGCAAGTGTGGAGGTGGGG GGATTGGAGCAAATGTGGATGTGCTGCGGGGGAAGAGCAAGCGTGGAGGT GGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCGTGGAGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp2 HG00423.hp1 NA18954.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0147 a0002c0004t0003g0167 a0002c0004t0003g0147 a0002c0004t0003g0167	2	303	0.0066	400	c.49 others(411): Show c.4969_*4970insACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCA CATTTGCTCCTCCCCCCACCTCCACGCTTGCTCTTCCCCCGCAGCACATC CACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACC TCCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAAC CTCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCC ACCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTT GCTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCCCACCTCCACGCTTGCTTCTCCCCCCAGCACCTCCAC ATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
EXOC2_chr6_480154_698139	519676	G G	GCACCGAG others(393): Show GCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC CCACCGAGCGCCGACGCTCACCGTCCACACTCGGAGACGAGAACCACCAC C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	171	0.0058	400	c.238 others(421): Show c.2380+12792_2380+12793insGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTG TGGACGGTGAGCGTCGGCGCTCGGTG	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520238	G G	GACACTCA others(393): Show GACACTCACCGTCCACACTCGGAGACGAGAACCAACACCCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC GACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC CACACTCACCGTCCACACTCGGAGACGAGAACCACCACGCACCGAGCGCC C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	267	0.0037	400	c.238 others(421): Show c.2380+12230_2380+12231insGGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTGGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGCGTGGTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGTCGGCGCTCGGTGGGTGTTGGTTCT CGTCTCCGAGTGTGGACGGTGAGTGT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
EXOC2_chr6_480154_698139	520763	T T	TGAGAACC others(393): Show TGAGAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA CGAGAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGA C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0127 a0001c0013t0001g0127	1	227	0.0044	400	c.238 others(421): Show c.2380+11705_2380+11706insGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGCGTGGTGGTTCTC	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FOXP1_chr3_70949708_71588728	71435244	A A	AAGGAAGG others(393): Show AAGGAAGGAAGGAAGAGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0026 a0001c0001t0069g0026	1	81	0.0123	400	c.-16 others(421): Show c.-168+58181_-168+58182insCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCT CCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTCTCTTCCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132241977	A A	ACCCTTCC others(393): Show ACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACCCTTC CCTGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATA CCCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTA CACACACGCCACACCCCCCTTCCCGGGGCCCTCCCTATACCCATTTACAC ACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCATTCCTGGGGCCCTCCCTATACCCATTTAAACACACGCCAC G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0004 a0001c0034t0004	a0001c0034t0004g0158 a0001c0034t0004g0158	1	168	0.0060	400	c.107 others(419): Show c.1077+5932_1077+5933insCGTGGCGTGTGTTTAAATGGGTATAG GGAGGGCCCCAGGAATGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGAGGGCCC CGGGAAGGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTGG AAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTG TGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCG TGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCAGGGAAGGGTGTGTTGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALP_chr19_56171008_56190775	56176046	C C	CTGCCAGC others(393): Show CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATCCCAGCTGCACCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGTCGG CTGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCAGAGGGGCGG ATGCCAGCTGCAGCGGGGTGAGAGCCTAGGCCAGGAGGGCACAGGGGCGG A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0139 a0002c0003t0027g0139	1	408	0.0025	400	c.-40 others(415): Show c.-40+274_-40+275insCAGGGTCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGTCGGCTGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCACAGGGGCGGATGCCAGCTGCAGCGGGGTGA GAGCCTAGGCCAGGAGGGCAGAGGGGCGGATCCCAGCTGCACCGGGGTGA GAGCCTAGGCCAGGAGGGCA	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(393): Show ATGTGTGTGTGAGAGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGCGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGG GTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGG GGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGTG GGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTGGGGTGGG GGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGTGTGGGGTGG ATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTGTG G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp2 others(48): Show HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02080.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 others(26): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0075 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0045 a0001c0002t0051 a0001c0002t0052 a0001c0002t0054 a0001c0002t0055 a0001c0002t0057 a0001c0002t0067 a0001c0002t0068 a0001c0002t0073 a0001c0002t0074 a0001c0002t0102	a0001c0001t0006g0289 a0001c0001t0008g0031 a0001c0001t0013g0111 others(47): Show a0001c0001t0006g0289 a0001c0001t0008g0031 a0001c0001t0013g0111 a0001c0001t0034g0110 a0001c0001t0036g0030 a0001c0001t0037g0029 a0001c0001t0038g0323 a0001c0001t0075g0032 a0001c0002t0003g0012 a0001c0002t0003g0013 a0001c0002t0003g0021 a0001c0002t0003g0045 a0001c0002t0003g0103 a0001c0002t0003g0117 a0001c0002t0003g0189 a0001c0002t0003g0206 a0001c0002t0003g0213 a0001c0002t0003g0235 a0001c0002t0003g0297 a0001c0002t0004g0008 a0001c0002t0004g0052 a0001c0002t0004g0136 a0001c0002t0004g0184 a0001c0002t0004g0185 a0001c0002t0004g0248 a0001c0002t0004g0251 a0001c0002t0004g0267 a0001c0002t0006g0001 a0001c0002t0006g0130 a0001c0002t0006g0186 a0001c0002t0014g0096 a0001c0002t0014g0116 a0001c0002t0023g0288 a0001c0002t0026g0242 a0001c0002t0027g0020 a0001c0002t0029g0011 a0001c0002t0031g0325 a0001c0002t0031g0328 a0001c0002t0032g0002 a0001c0002t0045g0016 a0001c0002t0051g0177 a0001c0002t0052g0176 a0001c0002t0054g0179 a0001c0002t0055g0094 a0001c0002t0057g0273 a0001c0002t0067g0199 a0001c0002t0068g0286 a0001c0002t0073g0004 a0001c0002t0074g0104 a0001c0002t0102g0327	51	114	0.4474	400	c.-10 others(417): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACC CCACACCCTCCCACACTCACACCCCCACCCCACACCCTCCCACACTCACA TTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCCCACA CCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCA CACCCTCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACACTC ACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCCCACACCCT CCCACACTCACGCTCACCCCCTACCCCACACCCAGACACACACCCACACA CACCCATACTCTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235587634	A A	ATGTGTGT others(393): Show ATGTGTGTGTGAGTGTATGGGTGTGTGTGGGTGTGTGTCTGGGTGTGGGG TAGGGGGTGAGAGTGAGTGTGGGAGGGTGTGGGGTGGGGGTGAGTGTGAG TGTGGGAGGGTGTGGGGTGGGGTGAGTGTGTGGGAGGGTGTGGGGTGGGG GTGAGCATGAGTGTGGGAGGGTGTGGGGGTGTGAGTGTGGGAGGGTGTGG GGTGGGGTGAGAGCATGGGAGGGTGTGGGGTGGGGGTGAGTGTGACTGTG GGAGAGTGTGGGGTGGGGGTGAATGTGAGTGTGGGAGGGTGTAGGGTGGG GGTGTGAGTGTGGGAGGGTGTGGGGTGGGGTGTGTGAATGTGTGGGGTGG ATGTGTGTGTGAGCGTGGGTTTGTGGGTGTGTGTCAGGGTGTGTGGTGTG G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0259 a0001c0001t0027g0259	1	64	0.0156	400	c.-10 others(417): Show c.-10-3787_-10-3786insCCACACCACACACCCTGACACACACCCA CAAACCCACGCTCACACACACATCCACCCCACACATTCACACACCCCACC CCACACCCTCCCACACTCACACCCCCACCCTACACCCTCCCACACTCACA TTCACCCCCACCCCACACTCTCCCACAGTCACACTCACCCCCACCCCACA CCCTCCCATGCTCTCACCCCACCCCACACCCTCCCACACTCACACCCCCA CACCCTCCCACACTCATGCTCACCCCCACCCCACACCCTCCCACACACTC ACCCCACCCCACACCCTCCCACACTCACACTCACCCCCACCCCACACCCT CCCACACTCACTCTCACCCCCTACCCCACACCCAGACACACACCCACACA CACCCATACACTCACACACACA	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	2/3			chr1	TogoVar
GPBP1_chr5_57169059_57269673	57249839	T T	TCCCGTCC others(393): Show TCCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCC TCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTT CCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCACCTCCCCTTCCCCCCAC CTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCCTTCCCCC CTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCT TCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTC CCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTT CCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCCT C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01361.hp2 others(14): Show HG00733.hp2 HG00735.hp1 HG01361.hp2 HG01516.hp2 HG01981.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0003 a0001c0002t0003 a0001c0004t0003	a0001c0002t0003g0019 a0001c0002t0003g0109 a0001c0002t0003g0110 others(14): Show a0001c0002t0003g0019 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0126 a0001c0002t0003g0129 a0001c0002t0003g0131 a0001c0002t0003g0285 a0001c0004t0003g0111 a0001c0004t0003g0113 a0001c0004t0003g0115	17	118	0.1441	400	c.972 others(415): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCT TCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTGCAC CTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACC TTCCCCTCCTTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCC TCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTC CCCCTTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTCCCCTCC TTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCTTCCCTC CTTCCCCCTTCCCCCTCCCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GREB1_chr2_11529045_11647788	11618136	C C	CACTCCTG others(393): Show CACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCA CTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACT CCTGGGACAGGTCACTCCTGGGACGAGTCGCCCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAG GTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGT G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0070 a0005c0002t0070	a0005c0002t0070g0185 a0005c0002t0070g0185	1	82	0.0122	400	c.341 others(415): Show c.3413-41_3413-40insCACTCCTGGGACGAGTCGCCCCTGGGATGG GTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGT CACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGA CTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACT CCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCC TGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTG GGATGGGTGACTCCTGGGACAGGTCACTCCTGGGATGGGTGACTCCTGGG ACAGGTCACTCCTGGGATGGGTGACTCCTGGGACAGGTCACTCCTGGGAT GGGTGACTCCTGGGACAGGT	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIN2A_chr16_9748408_10187428	9848712	A A	ATATTTAA others(393): Show ATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAAT ACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTA AATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGT TTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATAT AAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATAT ATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	157	0.0064	400	c.132 others(419): Show c.1328+1043_1328+1044insAAAACAGTGTATTTTATATATTTAAA TATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTT TATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAA AACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATAT TTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTG TATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATA TATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTA TATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAA CAGTGTATTTTATATATTTAAATA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(393): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0044 a0005c0005t0002g0044	1	134	0.0075	400	c.-28 others(411): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(393): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATATATGGAATGTATATACGGAATATATATATATGG AACGTATATACGGAATATATACATATGGAACATATATACGGAATATATAC ATATGGAACATATATATACGGAATATATACATATGGAACATATATATATG GAATATATACATATGGAACATATATATGGAATATATACATATGGAACATA TATATGGAATATATATATATGGAACATATATATGGAATATATATATATGG AACATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATGGAATATATATATATG G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0118 a0002c0002t0016g0118	1	62	0.0161	400	c.-21 others(411): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATATATGGAATGTATATACGG AATATATATATATGGAACGTATATACGGAATATATACATATGGAACATAT ATACGGAATATATACATATGGAACATATATATACGGAATATATACATATG GAACATATATATATGGAATATATACATATGGAACATATATATGGAATATA TACATATGGAACATATATATGGAATATATATATATGGAACATATATATGG AATATATATATATGGAACATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IL1RAPL1_chrX_28582446_29961718	29333810	G G	GCCTCCCT others(393): Show GCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACTGGGCGGCTG GCCGGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGTCCTCACTTCCTAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCC A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	135	0.0074	400	c.362 others(419): Show c.362+50653_362+51052dupCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCGCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCTAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGG	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(393): Show CGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	391	0.0026	400	c.16- others(413): Show c.16-421_16-420insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACG CAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(393): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGC AGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCAGGAGGGAGAGGTGG AGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGG GAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTG GGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGG GCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGA GGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGGGAGGCGGGGCTC AGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCG G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02280.hp2 others(6): Show HG01891.hp1 HG02145.hp1 HG02280.hp2 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03471.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0003 a0002c0001 a0005c0012 others(1): Show a0001c0003 a0002c0001 a0005c0012 a0008c0016	a0001c0003t0005 a0001c0003t0007 a0002c0001t0005 others(4): Show a0001c0003t0005 a0001c0003t0007 a0002c0001t0005 a0002c0001t0009 a0002c0001t0023 a0005c0012t0005 a0008c0016t0056	a0001c0003t0005g0195 a0001c0003t0007g0003 a0001c0003t0007g0004 others(6): Show a0001c0003t0005g0195 a0001c0003t0007g0003 a0001c0003t0007g0004 a0002c0001t0005g0012 a0002c0001t0005g0014 a0002c0001t0009g0194 a0002c0001t0023g0179 a0005c0012t0005g0016 a0008c0016t0056g0015	9	108	0.0833	400	c.623 others(417): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGCGGGGCTCAGGCAGGAGAGGTGGGACTCAGGTGGGGAGGCAGG ACTCAGGAGGGAGAGGTGGAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGT AGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTT CAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGG GCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGG AGGCGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTC GGGGGGGGAGGCGGGGCTCAGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(393): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA AATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGAGCTG AGATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCCGTCT CAAAAAAAAAAAAAAAACCCCAGGGTAAAAAGACTTAAAGAAGGTGAGGG AGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGCAACG A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0134 a0001c0001t0052g0134	1	71	0.0141	400	c.93- others(417): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGGTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCTG GCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTAA GTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGT GCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCT TGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAG CCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26805727	G G	GTAAAACT others(393): Show GTAAAACTGGCCGGGCACCGTGGCTCACACCTGTAATCCCAGCACTTTGG AAGGCCAAGGTGAGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGC CAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAA ATAGCCGGGCTTGGTGGCAGGCACCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAAGAGAATCGCTTGAACTTAGGAGGTAGAAGTTGCGGTGAGCTGA GATCACGCCATTGCACTCCAGCCAGGGCAATAAGAACGAAACTCCGTCTC AAAAAAAAAAAAAAAAAACCCAGGGTAAAAAGACTTAAAGAAGGTGAGGG AGACATGCAGGAGAACTGCATTCCAGGCAGAGGGAATAGCCAGGGCAACG A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG03516.hp1 others(1): Show HG02055.hp2 HG03225.hp1 HG03516.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0001c0030 a0002c0023 a0001c0016 a0001c0030 a0002c0023	a0001c0016t0003 a0001c0030t0004 a0002c0023t0019 a0001c0016t0003 a0001c0030t0004 a0002c0023t0019	a0001c0016t0003g0019 a0001c0030t0004g0022 a0002c0023t0019g0113 others(1): Show a0001c0016t0003g0019 a0001c0030t0004g0022 a0002c0023t0019g0113 a0002c0023t0019g0114	4	74	0.0541	400	c.93- others(417): Show c.93-15501_93-15500insTCGTTGCCCTGGCTATTCCCTCTGCCTG GAATGCAGTTCTCCTGCATGTCTCCCTCACCTTCTTTAAGTCTTTTTACC CTGGGTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGTTCTTATTGCCCT GGCTGGAGTGCAATGGCGTGATCTCAGCTCACCGCAACTTCTACCTCCTA AGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGG TGCCTGCCACCAAGCCCGGCTATTTTTTTTTTTTTTTTTGTATTTTTAGT AGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCT TGTGATCCACTCACCTTGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAG CCACGGTGCCCGGCCAGTTTTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	1/56			chr12	TogoVar
KCNMB2_chr3_178531436_178849429	178757984	G G	GATATATA others(393): Show GATATATATATATCCAAGAGGATATATATATATATCTCCAAGAGGATATA TATATATACACAAGAGGATATATATATATACACACAAGAGGATATATATA TGTACACACAAGAGGATATATATATGTACACACAAGAGGATATATATATA TATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATATA TATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATATA TATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATATA TATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATATA TATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGGATA T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	189	0.0053	400	c.-67 others(419): Show c.-67-49347_-67-49346insCCAAGAGGATATATATATATATCTCC AAGAGGATATATATATATACACAAGAGGATATATATATATACACACAAGA GGATATATATATGTACACACAAGAGGATATATATATGTACACACAAGAGG ATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAGG ATATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGA GGATATATATATATATATATCCAAGAGGATATATATATATATATATCCAA GAGGATATATATATATATATATCCAAGAGGATATATATATATATATATCC AAGAGGATATATATATATATATATCCAAGAGGATATATATATATATATAT CCAAGAGGATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar

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