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
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	250	0.0040	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	250	0.0040	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp2 NA18956.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0228 a0001c0003t0001g0116 a0001c0001t0001g0228 a0001c0003t0001g0116	2	250	0.0080	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCT CCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTC CTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	250	0.0040	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19011.hp1 HG01346.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0118 a0001c0001t0001g0042 a0001c0001t0001g0118	2	250	0.0080	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19070.hp2 HG02027.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	250	0.0080	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(745): Show TCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGCCTTC CTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTGC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT GCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCC CTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	250	0.0040	752	c.309 others(771): Show c.3095-4693_3095-4692insCCCTCCCTCCCTGCCTTCCTCCCTTC CTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGC CTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCT CCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R14C_chr6_150138044_150255392	150167973	T T	TCCTTCTC others(745): Show TCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCT CTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTT TCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTTTCTCTCCT CCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCC TCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	312	0.0032	752	c.306 others(771): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCT TCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCT CCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCGTCTT TCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCT CCCCTTCCTCCCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMBP2_chr12_130391133_130721299	130641509	A A	ATCACGGG others(745): Show ATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATC ACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACG GGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGC TGGATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGG ATTTAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATT TAGGATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAG GATGGTGACTGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGAT GGTGACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGT GACTGCCGGACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGAC TGCCGGACACTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGC CGGACACTCGGCCCGGCATCATGGGCTGGATTTAGGATGGTGACTGCCGG ACACTCGGCCCGGCTTCACGGGCTGGATTTAGGATGGTGACTGCCGGACA CTCGGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTC GGCCCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGC CCGGCATCACGGGCTGGATTTAGGATGGTGACTGCCGGACACTCGGCCCG GCT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0135 a0002c0016t0001g0135	1	180	0.0056	752	c.-35 others(773): Show c.-351-13054_-351-13053insAGCCGGGCCGAGTGTCCGGCAGTC ACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACC ATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATC CTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTA AATCCAGCCCGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAAT CCAGCCCATGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCA GCCCGTGATGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCC CGTGAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGT GAAGCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGAT GCCGGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCC GGGCCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGG CCGAGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCG AGTGTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGT GTCCGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTC CGGCAGTCACCATCCTAAATCCAGCCCGTGATGCCGGGCCGAGTGTCCGG CAGTCACCATCCTAAATCCAGCCCGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(745): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATTCCATATATATATATTCCATATATA TATATTCCATATATATATATTCCATATATATATATTCCATATATATATAT TCC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	324	0.0031	752	c.115 others(769): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATATGGAATATATATATATATGGAATATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628632	C C	CGGGGTGA others(745): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTC ACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGG GGTGAGGCGGAAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAGAGCTCA CAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0091 a0001c0007t0091	a0001c0007t0091g0300 a0001c0007t0091g0300	1	352	0.0028	752	c.299 others(769): Show c.299-1207_299-1206insCTGTGAGCTCTGCTGTCCCCTTTCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGC TCTGCTGTCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCC TTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTC CCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(745): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	314	0.0032	752	c.189 others(769): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG TCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TOP3A_chr17_18266428_18319994	18298410	T T	TCCCCGTC others(745): Show TCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCAGCCGGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCACCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCATCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCATCCGGGAAGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGTCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCTCCATCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCAGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAAGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGTCCCTCTGCCCGGCC AGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCTCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAG CAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0101 a0002c0003t0005g0101	1	388	0.0026	752	c.990 others(769): Show c.990+1148_990+1149insCTGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGAGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGACTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCTG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGAGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCAGAGGGACTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCTACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CCGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGATC CCCCCACCTCCCTCCCGGACGGGG	TOP3A	ENSG00000177302.16	transcript	ENST00000321105.10	protein_coding	9/18			chr17	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(745): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATTATATATA ATAATATAATATATATTATATATAATTATATATAATAATATAATATATAT TATTATATATAATATTATATAATAATATAATATATATTATTATATATATT ATATAATAATATAATATATATTATTATATAATATTATATATAATTATATA TAATAATATAATATATATAATATTATTATATATAATAATATAATATATAT TATTATATATTATTATATATAATAATATAATATATATTATTATATATAAT TATATATAATAATATATATTATATTATTATATATAATTATATATAATAAT ATATATATTATTATATATAATTATATATAATAATATATATATATTATTAT ATATAATTATATATAATAATATATATATTATTATATATAATTATATATAA TAATATATATATATTATTATATATTATTATATATAATAATATAATATATT ATTATATATTATTATATATAATAATATAATATATATTATATATTATTATA TATAATAATATAATATATATTATATATTATTATATATAATAATATAATAT ATA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp2 NA20805.hp2 HG00280.hp2 HG01069.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0018g0231 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0018g0231	3	238	0.0126	752	c.392 others(769): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATTATATATAAT AATATATAATAATATATATATATTATTATATATAATTATATATAATAATA TATATATTATTATATATAATTATATATAATAATATATATATATTATTATA TATAATTATATATAATAATATATATATTATTATATATAATTATATATAAT AATATAATATATATTATTATATATAATTATATATAATAATATATATTATA TTATTATATATAATAATATATAATAATATATATTATATTATTATATATAA TAATATTATATATATTATATTATTATATATAATTATATATAATATTATAT AATAATATATATTATATTATTATATAATATATATAATAATATATATTATA TTATTATATAATATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATATATATTATATTATTATATATAATTATATATAATAATAT ATATTATATTATTATATATAATTATATATAATATATATTATATTATTATA TATAATTATATATAATAATATATATTATGTTATTATATATAATAATATAT AATAATATATATTATATTATTATATATAATAATATATAATAATATATATT ATATTATTATATATAATAATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UCKL1_chr20_63934829_63961416	63948575	G G	GGGGCGTG others(745): Show GGGGCGTGTGTGAGAGGGAGGGGATGTGTGTGAGAGGGAGGGGGCGTGTG TGAAAGGGAGGGGCGTGTGTGAGGGAGGGGTGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGGGGGGCGTGTGTGAGGGA GGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGGTAGGGGCGTGTGTGAGAGGTAGGGGCGTGTGTGAGAGGGAGGGG GCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTG TGTGAGAGGTAGGGGCGTGTGTGAGGGGGGGGGCGTGTGTGAGGGAGGGG GCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGAGAGGGGCGTGTGTGAGG GAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGTGAGGGAGGGGCGTGTG TGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGTGGGGG GCGTGTGTGAGAGGGAGGGGGCGTGTGGGAGGGAGGGGGCGTGTGTGAGA GGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTG TGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGG GCGTGTGTGAGAGGCAGGGGTGTGTGTGAGAGGGAGGGGGCGTGTGAGGG GGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	356	0.0028	752	c.114 others(769): Show c.114-1933_114-1932insTCCCCCTCACACGCCCCCTCCCTCTCAC ACACACCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCCCA CACGCCCCCTCCCTCTCACACACGCCCCCCACTCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACACACG CCCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCTCTCTCAC ACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCCCC CTCACACACGCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGC CCCCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCA CACACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTA CCTCTCACACACGCCCCTACCTCTCACACACGCCCCTCCCTCTCACACAC GCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCCCCTCTC ACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACACCCCT CCCTCACACACGCCCCTCCCTTTCACACACGCCCCCTCCCTCTCACACAC ATCCCCTCCCTCTCACACACGCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(745): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGGGGAGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGG AGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGG GGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAG GGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAA GTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGA GGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0005 a0004c0019t0005	a0004c0019t0005g0159 a0004c0019t0005g0159	1	290	0.0035	752	c.205 others(771): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCC CCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCC TCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCC TTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTCCCT TCCCTCCCTCCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTC CCTCCCTCCCTCCCCTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCT CCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTT CCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCT CTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCC TCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(745): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGG AGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGG GGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAG GGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAA GTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGA GGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01192.hp2 HG01884.hp2 others(10): Show HG01069.hp1 HG01192.hp2 HG01884.hp2 HG02145.hp1 HG02257.hp1 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp2 HG03669.hp2 HG04184.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0014 a0016	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0007 a0003c0008 a0003c0010 a0003c0023 a0005c0011 a0014c0026 a0016c0050	a0001c0001t0003 a0001c0002t0003 a0001c0004t0008 others(9): Show a0001c0001t0003 a0001c0002t0003 a0001c0004t0008 a0001c0005t0005 a0002c0007t0005 a0003c0008t0001 a0003c0008t0003 a0003c0010t0002 a0003c0023t0003 a0005c0011t0016 a0014c0026t0003 a0016c0050t0001	a0001c0001t0003g0226 a0001c0002t0003g0243 a0001c0004t0008g0285 others(10): Show a0001c0001t0003g0226 a0001c0002t0003g0243 a0001c0004t0008g0285 a0001c0005t0005g0057 a0002c0007t0005g0257 a0003c0008t0001g0053 a0003c0008t0003g0074 a0003c0008t0003g0191 a0003c0010t0002g0082 a0003c0023t0003g0123 a0005c0011t0016g0282 a0014c0026t0003g0081 a0016c0050t0001g0187	13	290	0.0448	752	c.205 others(771): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCC CCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCC TCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCC TTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTCCCT TCCCTCCCTCCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCT CCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTT CCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCT CTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCC TCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(745): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGG AGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGG GGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAG GGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGG AAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAA GTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGA GGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAA GAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18951.hp1 NA19066.hp2 others(1): Show HG02683.hp1 NA18951.hp1 NA19066.hp2 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0088 a0001c0001t0001g0149 a0001c0001t0001g0166 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0149 a0001c0001t0001g0166 a0002c0003t0003g0051	4	290	0.0138	752	c.205 others(771): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCCTCC CCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCTCCCTCCCTCCCC TCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCC TTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTCCCT TCCCTCCCTCCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTC CCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCACT CCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTT CCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCT CTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCC TCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCTTCCC others(745): Show CCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCC CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC CTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCCTCCCCCCTC CCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCC TCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTC CCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCT CCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCT CCCTCCCCTCTCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTC CCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCTCCCCCTC CTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCC CTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCC CGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCC CTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	322	0.0031	752	c.4-1 others(765): Show c.4-1388_4-1387insTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCC CCTCCCCTCCTTCCCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTC CCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCT CCTCCCTCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCT CCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCC TCCCCCTTCCCTCCTCCCTCCCCTCTCCCTTCCCTCCTTCCTCCCCTCCC CCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTC CCCTCCTCCTCCCCCTCCCCTCCCCCTCCTCCCTTCCCCTCCTCCCTCCC CTCCCCTCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCC CTCCCCCTCCCCCTCCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCCCCT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(746): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACGTCACCTCAGCCCACCCAACACATCACCTCAGTCCACC CAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAA CACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCAC CTCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCT CAGCCCACCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC CCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACA CATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC CCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0011 a0001c0001t0008g0011	1	337	0.0030	753	c.61+ others(768): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAG GTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAG GTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGCGG GGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTG GGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGA GGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGG TGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(746): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACC TCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACC TCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCC CACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCC CCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCAC CTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCAC CTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGT CCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCA CCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCC CCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCA CCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCATCACCTCAGC CCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCC CCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp2 HG02976.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0226 a0001c0001t0017g0225 a0001c0001t0001g0226 a0001c0001t0017g0225	2	337	0.0059	753	c.61+ others(768): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGGCTGA GGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGT GGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAG GTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGT GATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGA GGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGG TGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(746): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATAAATATATAAAAATTTATATT TATATATCATAAATATATAAAAATTTATATTTATATATCATAAATAAAAA TTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	753	c.-10 others(764): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATA TAAATATAAATTTTTATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATAT GATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTAT TTATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTT TTATATATTTATGATATATAAATATAAATTTTTATATATTTATATTTATG ATATATAAATATAAATTTTTATATATTTATATTTATGATATATAAATATA AATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(746): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATATACTATATATATTTTATGTATAGTATATATACTG TATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	182	0.0055	753	c.505 others(772): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTATATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTA TACATAAAATATATATAGTACATACTATACATAAAATATATATATAGTAT ATACAATGTACATACTATACATAAAATATATATAGTACATACTATACATA AAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTATA others(746): Show GTACTATATATATTTTATATATAGTATGTACATTGTATATACTATATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATATTATGTACTATATATATTTTATACATAGTATATACACTGTATATACT ATATATATTTTATACATAGTATATACACTGTATATACTATATATATTTTA TACATAGTATATACACTGTATATACTATATATATTTTATACATAGTATAT ACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATATA CTATATATATTTTATACATAGTATATACACTGTATATACTATATATATTT TATACATAGTATATACACTGTATATACTATATATATTTTATACATAGTAT ATACACTGTATATACTATATATATTTTATACATAGTATATACACTGTATA TACTATATATATTTTATACATAGTATATACACTGTATATACTATATATAT TTTATACATAGTATATATACTGTATATACTATATATATTTTATACATAGT ATATATACTGTATATACTATATATATTTTATACATAGTATATATACTGTA TATACTATATATATTTTATACATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATATATACTG TATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	182	0.0055	753	c.505 others(772): Show c.505-41258_505-41257insTATACAGTATATATACTATATATAAA ATATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATGTATAAAATATATATAGTATATACAGTATATATACTATGTATA AAATATATATAGTATATACAGTATATATACTATGTATAAAATATATATAG TATATACAGTATATATACTATGTATAAAATATATATAGTATATACAGTGT ATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATGTA TAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATATAT AGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACAGT GTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTATG TATAAAATATATATAGTATATACAGTGTATATACTATGTATAAAATATAT ATAGTATATACAGTGTATATACTATGTATAAAATATATATAGTATATACA GTGTATATACTATGTATAAAATATATATAGTATATACAGTGTATATACTA TGTATAAAATATATATAGTACATAATATACATAAAATATATATATAGTAT ATACAATGTACATACTATACATAAAATATATATATAGTATATACAATGTA CATACTATATATAAAATATATATAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(746): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCAACCCACCATCCACCCATCCATATACCCTACCCACCCATCAAT TCACCCGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCA TTCATCCAATCCCACCCATCCATTCATCCATTCACCCACCCATTCATCCA TCCACCCACCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCC ATTCATCCATCCACCCATCCATTCATCCATCACCCACCATTCATCCATCC ACCCATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCAT TCATCCATTCACCCACCCATTCATCCATCACACCCATCCATTCATCCATT CACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCATCCA TTCATCCATCCACCCATCCATTCATCCATTCACCCACCCACTCATCCATC CACCCATCCATTCGCCCACCCATTTACCTACCCATTAATTCACCCACCCT TCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCC ATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCA CCCATTCACCCATCCACTCATCCATTCACCTATCACCCACCCATCCACTC ATCC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0040 a0040	a0040c0069 a0040c0069	a0040c0069t0001 a0040c0069t0001	a0040c0069t0001g0169 a0040c0069t0001g0169	1	262	0.0038	753	c.775 others(768): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGATAGGTGAA TGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAAT GGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTAT ATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGTA AATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGA TGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGATG GGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGTGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGTGGGTGATGGAT GAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGGATGGATGAATGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATG AATGGATGGGTGGGATTGGATGAATGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTAGGGTATATGGA TGGGTGGATGGTGGGTTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTG ATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATG GATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(746): Show AGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGGTCAGTCTCCCC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCACCTCTGCCCGGCCGCC CCTACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AAGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCATCTGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCT CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCC CCGCCCGGCCAACCGCCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCC GCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0338 a0001c0001t0008g0338	1	340	0.0029	753	c.352 others(770): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGTTGGCCGGGCGGGGGGGCTGACCCCTCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGG CGGGGGGCTGATCCCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGC AGAGGGGATCCTCACTTCACAGTAGGGGCGGCCGGGCAGAGGTGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCCACC TCCCTCCCAGACGGTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(746): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAG GAAAGGGGAAAGGGAAGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAG GGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGG GAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAAG GGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGG AAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGG AAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAG GGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAA AAGAGAGGGGACGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGG AAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGA GGGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	242	0.0041	753	c.927 others(770): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCC TTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCC TTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCT TCCTTTTCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTT CCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTC CCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(746): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAG GAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAA GGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATG GGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAAGGGGAAGGGAAA GGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGA AAGGGAAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGG AAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGG AAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAG GGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAA AAGAGAGGGGACGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGG AAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGA GGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	242	0.0041	753	c.927 others(770): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCGTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTTC CCTTCCCCTTCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCC CTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCT TCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCCCT TCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTT CCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTT CCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTC CCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTC CCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(746): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGGG AAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGA AGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAA GGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGG AAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAG TAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGG GAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCA AAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAG GAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGA AGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGA GGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0242 a0001c0001t0005g0242	1	242	0.0041	753	c.927 others(770): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTT CTTCTCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGT CCTGTCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTC CCTTTTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCC CCTTCCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCC TTTCCCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCC CTTCCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTC CCTTTCCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCCCTTCCTTTCTT CCCTTTCCCTTCCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTT TCCCATTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTT CCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCT TTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(746): Show GAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAAAGG GAAGGGAAGGGGAAGGGAAGGGAAAGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAGGGAAA AGGAAGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGG GAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAG GAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAA AGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGAAG GGGAAGGGGAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAA AAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAA GGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTA GCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGG GAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGG GGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGA AGGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGA GGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0236 a0001c0001t0005g0236	1	242	0.0041	753	c.927 others(770): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCCTTCCTTCCTCCCTTCCCTTTTTCTT CTCTTCCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCT GTCCGTCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCT TTTCCCTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCT TCCCTTCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTT CCCTTCCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTT CCCCTTCCCTTTCCCTTCCCCTTCCCCTTCCTTTCCCTTTCCCTTCCCTT TCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCC TTTCCCTTCCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCC CATTCCCTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCC TTCCCCTTCCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTC CTTCCCTTCCCTTCCCCTTCCTTCCTTTTCCCTTCCCTTCCCTTCCCCTT CCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTC CTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCC CTTCCCTTCCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	82971620	A A	ACAGGGGC others(746): Show ACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGT ACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCG ACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGACACACCACACCA GGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACACCAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGAGCCGACACACCACACCAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTGCCGACCACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACA CACCACACCAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGG GCCAGAAGGACCTGGAGCCGACACACCACACCAGGGGCCAGAAGGACCTG GTGCCGACCACACCACACCACGGGCCAGAAGGACCTGGAGCCGACACACC ACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0259 a0001c0001t0037g0259	1	266	0.0038	753	c.460 others(770): Show c.460-5875_460-5874insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCTCCAGGTCCTTCTGGCCCGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCC CCTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTCCAG GTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGC CCCTGGTGTGGTGTGTCGGCTCCAGGTCCTTCTGGCCCGTGGTGTGGTGT GGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCACCAGGT CCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACC GGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTG GCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGT CAGTACCGGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882384	G G	GGGGAGAA others(746): Show GGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCC GGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGC CGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0156 a0001c0003t0003g0156	1	288	0.0035	753	c.303 others(772): Show c.303+23737_303+23738insGCCGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTC CTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTT CCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCC CGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882566	G G	GGGGGGAG others(746): Show GGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGCG GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGG AAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAA GCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGG GAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGCGGGGAGAA GGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAA AGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGA AAGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0134 a0001c0001t0006g0134	1	288	0.0035	753	c.303 others(772): Show c.303+23555_303+23556insGCTTTCCTTTCCTTCTCCCCGCGGCT TTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCC TTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCT CCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCC GCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGG CTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(746): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGG ATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCAC CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCA CAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCCAGGA CAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCC ACCCCCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAG CCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGG ACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACC CACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGAC GGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA CCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAG GACG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0086 a0002c0011t0001g0086	1	88	0.0114	753	c.86- others(770): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGG GGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGT CCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGG CTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGG TGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCC TCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCT GTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTCGGATC CGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCT GTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1164213	C C	CATCATTT others(746): Show CATCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCG TCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATC GTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTAATGTTTT GGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCAGGGCCCGTCGTTTT GGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTT GTGGGGATTTTTCTGTGAGCCCCCCCAGGGCCTGTCGTTTTGGTTTGTGG GGACAGATTTTTCTGTGAGTCCCCCCAGGGCCCCTCGTTTTGGTTTGTGG GGACTGATTGTGAGCCCCCCAGGGTTTGTTTTGGTTTGTGCGGATAGATT TTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTG TGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGATTTTTCTGTGAGCC CCCAGGGTCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCC CAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCA GGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCCA GGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAG GGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGG GCCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0034 a0001c0002t0022g0034	1	40	0.0250	753	c.74- others(770): Show c.74-94638_74-94637insATCATTTTGGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTC TGTGAGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAG CCCCCCAGGGCCTAATGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC CCCCCCAGGGCCCGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCC CAGGGCCTGTCGTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCCAGG GCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCCCAGG GCCCCTCGTTTTGGTTTGTGGGGACTGATTGTGAGCCCCCCAGGGTTTGT TTTGGTTTGTGCGGATAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTT TGGTTTGTGGGGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTT GTGGGGATTTTTCTGTGAGCCCCCAGGGTCCGTCATTTTGGTTTGTGGGG ACAGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGAC AGATTTTTCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAG ATTTTTCTGTGAGCCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAG ATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGA TTTTTCTGTGAGCCCCCCAGGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(746): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA AAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGAGA GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA CACA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	198	0.0051	753	c.105 others(772): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGA GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA CACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(746): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGACAGAGACA GGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGAGA GAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAACA GACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGACA GAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGGAG AGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATAAG ACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACAGA AAGAGACAGACAAAGACAGAGATGGACAGAGAGAGACAGAGACAGAGAGA GACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACACA CACA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	198	0.0051	753	c.105 others(772): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGA GAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGA GAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGA GAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAG ACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAGGC AGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACA GAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGATGGACAGAGAGA GACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACACA CACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(746): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA CAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGAGA GAGAGAGACAGAGAGACAGAGAGAGAGACAGGCAGAGAGAGAGAGAGAAA CAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGAATAAGA CAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAGACAGGG AGAGAGAGAGAGAGACTGACAGACAGACAGACAGGCAGAGAAAGAGAATA AGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGACA GAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGAGA GAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACACA CACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA20300.hp1 HG02280.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0114 a0001c0004t0003g0115 a0001c0004t0003g0114 a0001c0004t0003g0115	2	198	0.0101	753	c.105 others(772): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGA GAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGAGAGAGAGACAGGCA GAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCA GAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAG AGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGACAG GCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGAGA CAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGAGA GAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACACA CACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	62730862	G G	GCAGACAG others(746): Show GCAGACAGACAGGCAGAGAAAGAGAGTAAGCCAGAAGGCAGACACACACA CACACACAGAGAGAGACAGAGACAGATGGAGAGACAGAGAGAAAGAGACA GAGAGAGGCAGAAACAGACAGAAAGAGAGAGACACAGAGAGAGAGACAGA GACAGAGAGAGAGACAGAGACAGGGAGAGAGAGAGACAGAGAGAGACAGA CAGACAGGCAGAGAAAGACAGTAAGATAGAAGACAGACACAGAGAGAGAG AGAGACAGACAGACAGGCAGAGAAAGACAGTAAGACAGAAGACAGACCCA GAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGA GACAGGCAGAGAGAGAGACAGAGAGACGGACAGAGAGAGAGACAGGCAGA GAGAGAGAGACAGAGAGACAGACAGAGAGAGAGACAGGCAGAGAGAGAGA GAGAAACAGACAGACAGGGAGAGAGAGAGACTGACAGGCAGAGAAAGAGA ATAAGACAGAAGACAGACACAGTGAGACAGGGAGAGAGAGAGACAGACAG ACAGGGAGAGAGAGAGAGAGACTGACAGACAGACAGGCAGAGAAAGAGAA TAAGACAGAAGACAGACACAGTGAGACAGAGAGAGACAGAGACAGAGAGA CAGAAAGAGACAGACAAAGACAGAGACGGACAGAGAGAGACAGAGACAGA GAGAGACAGAGAGAGAGAGAGAGAAACACACACACACACACACACACACA CACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	198	0.0051	753	c.105 others(772): Show c.105-16526_105-16525insACAGGCAGAGAAAGAGAGTAAGCCAG AAGGCAGACACACACACACACACAGAGAGAGACAGAGACAGATGGAGAGA CAGAGAGAAAGAGACAGAGAGAGGCAGAAACAGACAGAAAGAGAGAGACA CAGAGAGAGAGACAGAGACAGAGAGAGAGACAGAGACAGGGAGAGAGAGA GACAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAGATAGAAGAC AGACACAGAGAGAGAGAGAGACAGACAGACAGGCAGAGAAAGACAGTAAG ACAGAAGACAGACCCAGAGAGAGAGAGACAGGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGACAGAGACAGGCAGAGAGAGAGACAGAGAGACGGACAGA GAGAGAGACAGGCAGAGAGAGAGAGACAGAGAGACAGACAGAGAGAGAGA CAGGCAGAGAGAGAGAGAGAAACAGACAGACAGGGAGAGAGAGAGACTGA CAGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGGGAG AGAGAGAGACAGACAGACAGGGAGAGAGAGAGAGAGACTGACAGACAGAC AGGCAGAGAAAGAGAATAAGACAGAAGACAGACACAGTGAGACAGAGAGA GACAGAGACAGAGAGACAGAAAGAGACAGACAAAGACAGAGACGGACAGA GAGAGACAGAGACAGAGAGAGACAGAGAGAGAGAGAGAGAAACACACACA CACACACACACACACACACACAGACAG	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATGTATAT others(746): Show ATGTATATACATATATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATGTATATACATATAAATATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATGTATATTATATACATA TAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTATATACATATAAATATATATATTTATATACATATAAATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTACATACATATAAATATATATTTACATACA TATAAATATATATTTACATACATATAAATATATACATTTATATACATATA AATATATACATATATACATATAAATATATATTTATATACATATAAATATA TATATTTATATATATTTATATATATATAAATATATATATATTTGTATATA TATATAAATATATATATATTTATATATATATAAATATATATATATTTATA TATATATACATATAAATATATATTTATATACATATAAATATATAATTATA TACATATAAATATATAATTATATACATATAAATATATATAATTATATACA TATAAATATATATTTATATACATATAAATTTATATACATATAAATATAAA TATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	292	0.0034	753	c.49 others(764): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAATTATATATATTTATATGTATA TAATTATATATTTATATGTATATAATTATATATTTATATGTATATAAATA TATATTTATATGTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATACAAATATATATATATTTATATATA TATAAATATATATAAATATATATATTTATATGTATATAAATATATATTTA TATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATGTA AATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATTTATATGTATATACATATATATTTATATGTATATACAT ATATATATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4188		chr13	TogoVar
FLT4_chr5_180596506_180654600	180615780	C C	CCCGCCGG others(746): Show CCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGC TGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTC ACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCC CCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTAGGAGC ACTGGGTCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGG GCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCC GCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCAC TGGGGCCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGG CCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCC GGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCA CCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCC CTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTC CACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCAC TGGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0372 a0001c0001t0002g0372	1	388	0.0026	753	c.321 others(770): Show c.3219+586_3219+587insCCCAGTGCTCCGAAAGGAAGTGGAGAAG GGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGT GACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGG CGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCC CAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTG CTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCA AAAGGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGA AGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAAGTGGA GAAGGGAGGTGACCGGCGGGGCCCCAGTGCTCCGAAAGACAGTGGATTTC GGAAGTGGAGAAGGGAGGTGACCGGCGGGGCCCAGTGCTCCGAAAGGAAG TGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCAGCGGGACCCAGTGCTCCTAAAGGAAGTGGATTTCGG AAGTGGAGAAGGGAGGTGACCAGCGGGGCCCCAGTGCTCCGAAAGACAGT GGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCAGGCCCCAGTGCTCCAA AAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGA AGTGGAGAAGGGAGGTGACCGGCGG	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(746): Show CCACCACTACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACC ACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCAC CACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTA CCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCC TTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCAC CACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCA TCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACT ATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCAC TACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCT CCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAAC CACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCA CCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTATC ACCATCACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTAC CCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCT TCAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0103 a0001c0001t0006g0085 a0001c0001t0006g0214 a0001c0001t0005g0103 a0001c0001t0006g0085 a0001c0001t0006g0214	3	274	0.0110	753	c.804 others(770): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTG GAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAAT GGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAG AGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTG GTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAA GGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTG ATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGA GATAATGGTGGTGGTGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33322291	T T	TATATATA others(746): Show TATATATATGGAATATATATATGCAGTATATATATATGAATATATATATG GAATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGTGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT GTGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATAGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATATATATGGAACATAT ACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	323	0.0031	753	c.-27 others(764): Show c.-2765_-2764insATATATATGGAATATATATATGCAGTATATATAT ATGAATATATATATGGAATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGTGGAATATA TATATGGAATATATATATATGTGGAATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATAGAATATATACATGGAATA TATATATATAGAATATATACATGGAATATATATATGGAATATATACATGG AATATATATATATGGAATATATACATGGAATATATACATGGAATATATAC ATGGAACATATACATGGAATATATACATGGAACATATACATGGAATATAT ATATATGGAACATATACGGAATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATGGAATATATATACGGA ATATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2678		chr21	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(746): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCA CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACAC CCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCTGTCC CCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG03540.hp2 HG01884.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	2	376	0.0053	753	c.-79 others(762): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCG GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGATAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGG GGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCCGGGGGACAGG GGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGG GGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132172974	T T	TCCTTCCC others(746): Show TCCTTCCCTCTCTCACTCCCCTCTCCTCCCTCTCCCTCCCACTCTCTCCC TCTCCTTCCCTCTCTCTCCCCCTCACCTTCCCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCTCCCCTCTCCTTACCTCTCTCTCTCTCCCCCTCTCC TTCCCTCTCTTCTCTCTCCCCCGCTCCTTCCCTCTCTCTCTCCCTCTCCT CCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCT CTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCT CTCTCTCATCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCC TCTCTCTCTCCCCCTCATCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCT CTCTCCCTCCCCTCAATCCTTCCCTCTCACCTTCCCCCTCACCTTCCCCC TCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCATC CCCTTCCCTCTCGCCCTCTCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCC TCCCTCTCTCTCCCTCTCCTTCCTCTCCTCTCTCTCCCCTTCCCTCTCTC TCTCCCCTTCCCTCTCTCTCCCCCTCTCCTCCCTCTCTCTCCCTCTCCCT CCCTCACACTCCCTCTCCTCCCTCTCCTCCCTCTCTCTTCCCTCTCCTTC CCTCTCTCTCTCTCTTCCTTCCCTCTCTCTCTCTCCCTTCCCTCTCTCAT CTCC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0109 a0003c0002t0001g0109	1	158	0.0063	753	c.11 others(774): Show c.1103+3954_*1103+3955insACTCCCCTCTCCTCCCTCTCCCTC CCACTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTCACCTTCCCTCTCTC TCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCTCTCCTTACCTCTCTCTCT CTCCCCCTCTCCTTCCCTCTCTTCTCTCTCCCCCGCTCCTTCCCTCTCTC TCTCCCTCTCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCTCATCCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCTCTCCTTCCCTCTCTCTCTCCCCCTCATCCTTCCCTCTCTCTCTCCCC CTCTCCTTCCCTCTCTCCCTCCCCTCAATCCTTCCCTCTCACCTTCCCCC TCACCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCCTCTCCTTCCCTCTC TCCCTCCCCATCCCCTTCCCTCTCGCCCTCTCCCCCTCTCCTTCCCTCTC TCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCTCTCCTCTCTCTCCC CTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTCTCCTCCCTCTCT CTCCCTCTCCCTCCCTCACACTCCCTCTCCTCCCTCTCCTCCCTCTCTCT TCCCTCTCCTTCCCTCTCTCTCTCTCTTCCTTCCCTCTCTCTCTCTCCCT TCCCTCTCTCATCTCCCCTTCCCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(746): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCC ACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	312	0.0032	753	c.-41 others(768): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAG CCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCGCAG CCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCA CAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(746): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACA CACACACACCACACACACATCTAACACACACCTCCTTCAGACACACACCT CCAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTA ACACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACAC ACACCTCCTTCAAACACACACACACCTCCACACACACACACACCTAACAC ACACCTCCTTCAAACACACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACACA CCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCTC CTTCAAACACACACCTCCAAACACACACACACCTAACACACACACCTTCA AACA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0092 a0002c0006t0003g0092	1	262	0.0038	753	c.212 others(772): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTAACACAC CCGTCCTTCAAACACACACACACCACACACACATCTAACACACACCTCCT TCAGACACACACCTCCAAACACACACACACCTTACACACACCTTCAAACA CACACACACACCTAACACACACCTCCTTCAAACACACACACCTCCAAACA CACACATCTAACACACACCTCCTTCAAACACACACACACCTCCACACACA CACACACCTAACACACACCTCCTTCAAACACACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACAGCTTCTTCAAACACACACACACCTCCAAACA CACACACACCTAACACACACCTCCTTCAAACACACAAACCTCCAGCACAC ACACCTAACACACACCTCCTTCAAACACACACCTCCACACACACACACAC CTAACACACACCTCCTTCAAACACACACCTCCAAACACACACACACCTAA CACACACACCTTCAAACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC27_chr10_132327193_132386508	132358650	T T	TGTGGGGA others(746): Show TGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TAGAGCAGTGTGGGGAGGAGCCAAGGTGATGGAGCAGTGTGGGGAGGAGC CGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGA GCCGAGGTGATGGAGTGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGG GAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGT GTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGT GGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAG GTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAG GAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGATGGAGCAGT GTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGA GCGTGGGAAGGAGCCGAGGTGATGGAGTGTGGGGAGGAGCCGAGGTGATG GAGCAGTGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCG AGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGG AGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTG TGGGGAGGAGCCGAGGTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTG GAGC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0104 a0001c0001t0017g0104	1	290	0.0035	753	c.117 others(772): Show c.1171-2730_1171-2729insATGGAGCAGTGTGGGGAGGAGCCGAG GTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCCG AGGTGATGGAGTGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGG AGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGG GGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAG CAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGC CGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGATGGAGCAGTGTGG GGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCGT GGGAAGGAGCCGAGGTGATGGAGTGTGGGGAGGAGCCGAGGTGATGGAGC AGTGTGGGGAGGAGCCGAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGT GGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCC GAGGTGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGG GAGGAGCCGAGGTGGTGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGC GTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGT AGAGCAGTGTGGGGAGGAGCCAAGGTG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MFSD3_chr8_144504070_144516213	144513874	C C	CGTGGGCG others(746): Show CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGG CGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGA GTAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCG GCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGA GGAGGGGTCGGCGTGGGCGGTGGGGGAGAGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	753	c.27 others(764): Show c.2710_*2711insGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGGTG GGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTG GGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTG GGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGGAGAGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2662		chr8	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(746): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTC TCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCT TCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCC CCAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0007 a0002c0015t0007	a0002c0015t0007g0064 a0002c0015t0007g0064	1	278	0.0036	753	c.115 others(770): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC TCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar

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