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
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCA GGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0266 a0001c0001t0018g0266	1	4	0.2500	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(614): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGG CTGGGGAGGGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGG GGCTACTCCCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGGAAGGGTGC AGGTGGGGTGGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGG TGGGGGAAGGGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTG GGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGG GGGAAGGGTGCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGG GGTGTGGGTGGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGG GGTGGGGGAGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	4	0.2500	621	c.712 others(638): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACT CCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCAC CCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACC CTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCC CACCCCACCCCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCTC others(614): Show CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	12	0.0833	621	c.-45 others(642): Show c.-455+14579_-455+14580insCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(614): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCT CCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	12	0.0833	621	c.-45 others(642): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCT CCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(614): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAATTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATTTATATATAAATAT ATATAATTTTATATATAATATATATAATTTTATATATTATATATAAATAT ATATATAATTTATATATAAATATATAAAATTATATATAAATATATATAAT TTATATATAAATATATATAATTTATATATATAAATAGATATAATTTTATA TATTTATTTATATAAATTTTATATATTTATATAAATAAATATATATTTAT ATATAAAAATTTATATACAAATATATATAAATATATACAAATATATATAA ATTTATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0043 a0001c0001t0008g0043	1	42	0.0238	621	c.56- others(638): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAATTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATTTATATATAAATATATATAATTTTATATATAATATATATAATT TTATATATTATATATAAATATATATATAATTTATATATAAATATATAAAA TTATATATAAATATATATAATTTATATATAAATATATATAATTTATATAT ATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATATTTA TATAAATAAATATATATTTATATATAAAAATTTATATACAAATATATATA AATATATACAAATATATATAAATTTATATAAATATATATAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(614): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATAATATATATATAACATATATATAAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATAATATATATATAACATTTATAATATATATATAACATATA TATAATATATATATAACATATATATATTATATATATAACATATATATATT ATATATATATAACATATATATAATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATTATATATATAACA TATATATTATATATATAACATATATATTATATATATAACATATATATAAT ATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	123	0.0081	621	c.358 others(640): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATAACATATATATATAATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATAATATATATAT AACATATATATAATATATATAACATATATATAATATATATATAACATATA TATATTATATATATAACATATATATAATATATATATAACATTTATAATAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATATTATATATATATAACATATATATAATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TTATATATATAACATATATATTATATATATAACATATATATTATATATAT AACATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245282	C C	CATATATA others(614): Show CATATATATAATATATATAATATATATATAACATATATATAATATATATA ATATATATATAACATATATATAATATATATATAATATATATAATATATAT ATAACATATATATAATATATATAACATATATATAATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TATAATATATATATAACATATATATAATATATATATAACATATATATAAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATAATATATATATAACATTTATAATATATATATAACATATA TATAATATATATATAACATATATATATTATATATATAACATATATATATT ATATATATATAACATATATATAATATATATAACATATATATATAATATAT ATATAACATATATATATTATATATATATAACATATATATATAATATATAT ATAACATATATATATAATATATATATAACATATATATTATATATATAACA TATATATTATATATATAACATATATATAATATATATAACATATATATAAT ATATATATAACATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01993.hp1 HG01106.hp1 HG01361.hp2 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0001 a0001c0007t0001 a0001c0003t0001 a0001c0007t0001	a0001c0003t0001g0062 a0001c0003t0001g0108 a0001c0007t0001g0064 a0001c0003t0001g0062 a0001c0003t0001g0108 a0001c0007t0001g0064	3	125	0.0240	621	c.358 others(640): Show c.358+17298_358+17299insATATATATAATATATATATAACATAT ATATAATATATATAATATATATATAACATATATATAATATATATATAATA TATATAATATATATATAACATATATATAATATATATAACATATATATAAT ATATATAACATATATATATAATATATATATAACATATATATATAATATAT ATATAACATATATATATAATATATATATAACATATATATAATATATATAT AACATATATATAATATATATAACATATATATAATATATATATAACATATA TATATTATATATATAACATATATATAATATATATATAACATTTATAATAT ATATATAACATATATATAATATATATATAACATATATATATTATATATAT AACATATATATATTATATATATATAACATATATATAATATATATAACATA TATATATAATATATATATAACATATATATATTATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TTATATATATAACATATATATTATATATATAACATATATATAATATATAT AACATATATATAATATATATATAACATATATATATAATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(614): Show GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGA AGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAG GGAGGGGAGAAAAAGGGAGGGGAGAAGAAGGGAGGAGAGGGGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGG GGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGGGAAGAAGAAGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAAGGGA GGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGG GGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCAGGGAGGGGAGG GGCGAAGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0032 a0001c0014t0001g0032	1	57	0.0175	621	c.158 others(638): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCTTCGCCCCTCCC CTCCCTGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTT CCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCTTCCCTTCTTCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCTTCTTCTTCCCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCC TTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCC CTCCCCTCTCCTCCCTTCTTCTCCCCTCCCTTTTTCTCCCCTCCCTTCTT CTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCC CTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCC TTCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	759059	C C	CTTCCCAT others(614): Show CTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGA CAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACCC CCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCGTTATCAAT ACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTAT CAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCA TTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCGACAGCCTT CCCATTATCAATACCCCCAACAGCCTTCCCATTATCAATACCCCCCACAA CCTTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCG ACAGCCTTCCCATTATCAATACCCCCCACAGCCTTCCTGTTATCAATACC CGCAACAGCCTCCCTGTTGTCAATACCCCCCACAGCCTTCCTGTTACCAA TACCCGCAACAGCCTCCCTGTTGTCAATACCCCCGACAGCCTTCCCATTA TCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCC ATTATCAATACCCCTGACAGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0014 a0002c0006t0021g0014	1	38	0.0263	621	c.18+ others(638): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACC CCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCGTTATCAA TACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTA TCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCGACAGCCT TCCCATTATCAATACCCCCAACAGCCTTCCCATTATCAATACCCCCCACA ACCTTCCCATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCC GACAGCCTTCCCATTATCAATACCCCCCACAGCCTTCCTGTTATCAATAC CCGCAACAGCCTCCCTGTTGTCAATACCCCCCACAGCCTTCCTGTTACCA ATACCCGCAACAGCCTCCCTGTTGTCAATACCCCCGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCC CATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	759113	C C	CTTCCCAT others(614): Show CTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCTGA CAGCCTTCCCATTATCAATACCCCCGACAGCTTTCCCATTATCAATACCC CTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAAT ACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTAT CAATACCCCCCACAACCTTCCCATTATCAATACCCCTGACAGCCTTCCCA TTATCAATACCCCCGACAGCTTTCCCATTATCAATACCCCTGACAGCCTT CCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAACAG CCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCG ACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACC CCCCACAACCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAA TACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTA TCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCTGACAGCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0011 a0002c0001t0011	a0002c0001t0011g0002 a0002c0001t0011g0002	1	18	0.0556	621	c.18+ others(638): Show c.18+21307_18+21308insCCACAACCTTCCCATTATCAATACCCCT GACAGCCTTCCCATTATCAATACCCCCGACAGCTTTCCCATTATCAATAC CCCTGACAGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCA ATACCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATT ATCAATACCCCCCACAACCTTCCCATTATCAATACCCCTGACAGCCTTCC CATTATCAATACCCCCGACAGCTTTCCCATTATCAATACCCCTGACAGCC TTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAAC AGCCTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCC CGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATA CCCCCCACAACCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATC AATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCAT TATCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTC CCATTATCAATACCCCTGACAGCTTTCCCATTATCAATACCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(614): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCACCA CCACAACCACCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCA CCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCA TCATCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACC ACCACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCAC CAGCACCACTATCACCACTATCACCACCACCCCCACCATCACCTCCACAC CACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0003 a0002c0002t0029g0003	1	2	0.5000	621	c.113 others(640): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCAC CACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAACCTCTAC CACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCA ACCCATCATCACCACCTCCACCACCACCACCTTCACCCCCACCGTCACCT CCACCACCACCTCCATTACCTCCACAACTTCTACCACCACCACCCCCACC ACCACCAGCACCACTATCACCACTATCACCACCACCCCCACCATCACCTC CACACCACCTCCATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGAGACGGTGGGAGGTGGTGG GAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGG GAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAGA CGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0075 a0001c0002t0001g0075	1	164	0.0061	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCGCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCAC CATCTCCGTCTCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACC TCCCGCCGTCTCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACC TCCCACCGTCTCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTGCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG02055.hp1 others(20): Show HG01891.hp1 HG01934.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02970.hp1 HG03486.hp1 HG03834.hp2 NA18941.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0003 a0001c0007 a0001c0021 others(3): Show a0001c0003 a0001c0007 a0001c0021 a0002c0001 a0007c0020 a0009c0019	a0001c0003t0001 a0001c0007t0001 a0001c0021t0001 others(3): Show a0001c0003t0001 a0001c0007t0001 a0001c0021t0001 a0002c0001t0002 a0007c0020t0001 a0009c0019t0001	a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0091 others(9): Show a0001c0003t0001g0005 a0001c0003t0001g0019 a0001c0003t0001g0091 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0007t0001g0096 a0001c0007t0001g0097 a0001c0021t0001g0102 a0002c0001t0002g0044 a0007c0020t0001g0101 a0009c0019t0001g0100	23	186	0.1237	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG02970.hp2 HG01515.hp2 HG01517.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	3	166	0.0181	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(614): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGATGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTGGGATGTGGTG GGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTGGGAGATGGTG GGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTGGGAGACGGCG GGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAG ATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAG ATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGGAGG TGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02257.hp2 others(10): Show HG00741.hp2 HG01243.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02809.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0008 a0001c0003t0001g0066 a0001c0003t0001g0092 others(2): Show a0001c0003t0001g0008 a0001c0003t0001g0066 a0001c0003t0001g0092 a0001c0003t0001g0103 a0001c0005t0001g0014	13	176	0.0739	621	c.127 others(636): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCGTCTCCCA CCACCTCCCGCCGTCTCCCACCACCTCCCGCCATCTCCCACCACCTCTCA CCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCA CCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTA CCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCA CCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCA CTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EBF2_chr8_25836725_26050413	26005383	T T	TAATTATA others(614): Show TAATTATATATTATATATAATTATATATTATATATAATATATAATTATAT ATTATATATAATATATAATTATATATAATATATAATATATTATATATTAT ATATATTATATAAAATATAATATATTATATATAATTATATATTATATATT ATATATAATATATAATTATATGTTATATATTATATATATTATATATTATA TATATATTATATATATAATATATATTATATATTAAATTATATATAATATA TATTATATATATAATTTATATATATAAAATATATTATATATTATATAAAT ATATATATTTTATATATATAAAATATATATTTTATAATATATAATATAGA AATGTATATTATATAATATATAATTATATATAATTATATATTATATAATA TATATTTCTATATTATATATTTATAATGTATAATATATAAATATATTATA AATATATATTATATACTATATAATGCATTATAAATATATTATATTTATAT ATTATAAATATATTACATATTTATATATTATATATATAATATATATATTA TATATTATAAATATATTTTATAAAATATAATATATATATTATTATTATAT TTTATAAAATATAATAATAATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0173 a0001c0002t0003g0173	1	192	0.0052	621	c.551 others(640): Show c.551+27701_551+27702insTATTATTATTATATTTTATAAAATAT AATAATAATATATATATTATATTTTATAAAATATATTTATAATATATAAT ATATATATTATATATATAATATATAAATATGTAATATATTTATAATATAT AAATATAATATATTTATAATGCATTATATAGTATATAATATATATTTATA ATATATTTATATATTATACATTATAAATATATAATATAGAAATATATATT ATATAATATATAATTATATATAATTATATATTATATAATATACATTTCTA TATTATATATTATAAAATATATATTTTATATATATAAAATATATATATTT ATATAATATATAATATATTTTATATATATAAATTATATATATAATATATA TTATATATAATTTAATATATAATATATATTATATATATAATATATATATA ATATATAATATATATAATATATAACATATAATTATATATTATATATAATA TATAATATATAATTATATATAATATATTATATTTTATATAATATATATAA TATATAATATATTATATATTATATATAATTATATATTATATATAATATAT AATTATATATTATATATAATATATAATTATATATAATATATAATT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(614): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG01884.hp1 others(2): Show HG00738.hp1 HG01433.hp1 HG01884.hp1 HG01975.hp2 HG06807.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0002c0001 a0002c0022 others(2): Show a0001c0002 a0002c0001 a0002c0022 a0002c0068 a0009c0015	a0001c0002t0001 a0002c0001t0001 a0002c0022t0001 others(2): Show a0001c0002t0001 a0002c0001t0001 a0002c0022t0001 a0002c0068t0001 a0009c0015t0001	a0001c0002t0001g0189 a0002c0001t0001g0187 a0002c0022t0001g0114 others(2): Show a0001c0002t0001g0189 a0002c0001t0001g0187 a0002c0022t0001g0114 a0002c0068t0001g0040 a0009c0015t0001g0141	5	78	0.0641	621	c.282 others(640): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(614): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG01952.hp2 HG01167.hp2 HG01261.hp2 HG01952.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0168 a0001c0006t0001g0169 a0001c0006t0001g0196 a0001c0006t0001g0168 a0001c0006t0001g0169 a0001c0006t0001g0196	3	143	0.0210	621	c.282 others(640): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAG TCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTAT ACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
GBF1_chr10_102240532_102387896	102280519	T T	TAACAGAG others(614): Show TAACAGAGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGTAGCCCAGAGGTCCTTTATTTTTTTTTTTAACACCTATTATGC CATGAATTCATAGGGAATAGGTTCCAGCAGCTCAGGCTCCTTCCCATTGG TTCTCACAAAGTGTGCTTCTCTGGGTGGAGCAGGCTGGCGCTTTAGTTGA ACCCAGGTACCTTTCTCTTTGGCTTCTTTCTTTTTCTGATCATTTTCCTT CACACGTTTCAGGAAGCTATCTCGGCTCTTAGAGTGCTTAATGTGCTCAA TACGCACATTAATTCTCTTGGCAAGAATCTTGCCCTTAACTTGTTTGTTT ACAACAATGCCAACAGCATGCTGGGTAACATTGTAGACTCTTCCAGTTTT GCCATGGTAACACTTGTGGGGCATTCCTTTTTGAACAGTACCCATTCCCT TGATGTCTACAATATCACCTTTCTTATAGATTCGCATATATGTGGCCAAA GGAACAACTCCATGTTTTCTAAAAGGCCTAGAGAACATATATCGGGTGCC TCTCCTCTTTCCCTTTGTGTTCGTCATTTTGGCGAATTACTGGAAGATGG CGGTTCCGGCCGAAAGGAAAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	328	0.0030	621	c.163 others(640): Show c.163+20418_163+20419insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGTAGCCCAGAGGTCCTTTATTTTTTTTTTTAACACC TATTATGCCATGAATTCATAGGGAATAGGTTCCAGCAGCTCAGGCTCCTT CCCATTGGTTCTCACAAAGTGTGCTTCTCTGGGTGGAGCAGGCTGGCGCT TTAGTTGAACCCAGGTACCTTTCTCTTTGGCTTCTTTCTTTTTCTGATCA TTTTCCTTCACACGTTTCAGGAAGCTATCTCGGCTCTTAGAGTGCTTAAT GTGCTCAATACGCACATTAATTCTCTTGGCAAGAATCTTGCCCTTAACTT GTTTGTTTACAACAATGCCAACAGCATGCTGGGTAACATTGTAGACTCTT CCAGTTTTGCCATGGTAACACTTGTGGGGCATTCCTTTTTGAACAGTACC CATTCCCTTGATGTCTACAATATCACCTTTCTTATAGATTCGCATATATG TGGCCAAAGGAACAACTCCATGTTTTCTAAAAGGCCTAGAGAACATATAT CGGGTGCCTCTCCTCTTTCCCTTTGTGTTCGTCATTTTGGCGAATTACTG GAAGATGGCGGTTCCGGCCGAAAGGAAAACAACAGAGTTATTTTT	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(614): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATAATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAAT ATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATAT TTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATAT AAATATATATAAATATACATGTATATTTATTCACATATAAATATATATAA ATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	169	0.0059	621	c.-97 others(638): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATAATTTATTCATATAT AAATATATATAAATATACATGTATATTTATTCATATATAAATATATATAA ATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTAT ATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATAT ATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATAT AAATATACATGTATATTTATTCACATATAAATATATATAAATATACATGT ATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCAC ATATAAATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HELZ2_chr20_63553086_63579239	63566523	G G	GGGCACCC others(614): Show GGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGG GCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGC AGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCAC CAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGAC AAGGAGACGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGA GGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGA TGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCA CCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCAC CCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGAC TCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGC TCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGA GACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGGCGCAGTGAGGACT GGGCCACCCCCGACAAGGAGAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19057.hp2 NA18943.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0099 a0002c0002 a0002c0099	a0002c0002t0063 a0002c0099t0007 a0002c0002t0063 a0002c0099t0007	a0002c0002t0063g0040 a0002c0099t0007g0041 a0002c0002t0063g0040 a0002c0099t0007g0041	2	386	0.0052	621	c.251 others(636): Show c.2515-71_2515-70insGTCTCCTTGTCGGGGGTGGCCCAGTCCTCA CTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTC GGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTG GGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCG TCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTAGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04204.hp1 HG00099.hp1 HG04204.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0106 a0002c0005t0011 a0002c0005t0106	a0002c0005t0011g0303 a0002c0005t0106g0265 a0002c0005t0011g0303 a0002c0005t0106g0265	2	92	0.0217	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCTAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(87): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02738.hp2 HG03492.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18998.hp2 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2	a0002 a0006 a0012 others(13): Show a0002 a0006 a0012 a0015 a0018 a0019 a0021 a0049 a0050 a0069 a0071 a0077 a0080 a0087 a0088 a0089	a0002c0002 a0002c0005 a0002c0015 others(23): Show a0002c0002 a0002c0005 a0002c0015 a0002c0091 a0002c0097 a0002c0098 a0002c0100 a0002c0108 a0006c0007 a0012c0027 a0012c0101 a0015c0028 a0015c0104 a0018c0029 a0019c0106 a0019c0107 a0021c0030 a0049c0047 a0050c0102 a0069c0096 a0071c0103 a0077c0094 a0080c0093 a0087c0092 a0088c0095 a0089c0109	a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 others(48): Show a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0011 a0002c0002t0017 a0002c0002t0018 a0002c0002t0022 a0002c0002t0031 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0061 a0002c0002t0062 a0002c0002t0064 a0002c0005t0005 a0002c0005t0006 a0002c0005t0011 a0002c0005t0017 a0002c0005t0018 a0002c0005t0059 a0002c0005t0065 a0002c0015t0007 a0002c0015t0022 a0002c0091t0005 a0002c0097t0017 a0002c0098t0005 a0002c0100t0005 a0002c0108t0033 a0006c0007t0005 a0006c0007t0007 a0006c0007t0032 a0012c0027t0021 a0012c0027t0022 a0012c0101t0007 a0015c0028t0027 a0015c0104t0021 a0018c0029t0006 a0018c0029t0011 a0019c0106t0017 a0019c0107t0006 a0021c0030t0021 a0021c0030t0033 a0049c0047t0017 a0050c0102t0066 a0069c0096t0067 a0071c0103t0007 a0077c0094t0034 a0080c0093t0027 a0087c0092t0007 a0088c0095t0005 a0089c0109t0034	a0002c0002t0005g0002 a0002c0002t0005g0258 a0002c0002t0005g0268 others(65): Show a0002c0002t0005g0002 a0002c0002t0005g0258 a0002c0002t0005g0268 a0002c0002t0005g0271 a0002c0002t0006g0004 a0002c0002t0007g0010 a0002c0002t0007g0311 a0002c0002t0011g0261 a0002c0002t0011g0294 a0002c0002t0011g0312 a0002c0002t0017g0295 a0002c0002t0018g0319 a0002c0002t0022g0036 a0002c0002t0031g0032 a0002c0002t0057g0290 a0002c0002t0058g0291 a0002c0002t0060g0289 a0002c0002t0061g0292 a0002c0002t0062g0293 a0002c0002t0064g0274 a0002c0005t0005g0034 a0002c0005t0005g0260 a0002c0005t0005g0324 a0002c0005t0006g0007 a0002c0005t0006g0044 a0002c0005t0006g0264 a0002c0005t0006g0315 a0002c0005t0006g0316 a0002c0005t0011g0285 a0002c0005t0011g0288 a0002c0005t0011g0317 a0002c0005t0017g0314 a0002c0005t0018g0035 a0002c0005t0059g0287 a0002c0005t0065g0266 a0002c0015t0007g0033 a0002c0015t0007g0270 a0002c0015t0022g0273 a0002c0091t0005g0278 a0002c0097t0017g0286 a0002c0098t0005g0320 a0002c0100t0005g0269 a0002c0108t0033g0272 a0006c0007t0005g0038 a0006c0007t0005g0318 a0006c0007t0007g0298 a0006c0007t0007g0299 a0006c0007t0032g0037 a0012c0027t0021g0279 a0012c0027t0022g0280 a0012c0101t0007g0296 a0015c0028t0027g0039 a0015c0104t0021g0046 a0018c0029t0006g0302 a0018c0029t0011g0301 a0019c0106t0017g0300 a0019c0107t0006g0262 a0021c0030t0021g0309 a0021c0030t0033g0310 a0049c0047t0017g0275 a0050c0102t0066g0099 a0069c0096t0067g0267 a0071c0103t0007g0297 a0077c0094t0034g0284 a0080c0093t0027g0282 a0087c0092t0007g0281 a0088c0095t0005g0283 a0089c0109t0034g0308	90	180	0.5000	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAGCGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0036 a0036	a0036c0105 a0036c0105	a0036c0105t0021 a0036c0105t0021	a0036c0105t0021g0259 a0036c0105t0021g0259	1	91	0.0110	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566559	G G	GCAGTGAG others(614): Show GCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGC TCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGA GAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACT GGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAAC GCAGGACGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCC ACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCG ACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGT GAGGACTGGGCCACCCCCGACAAGGAGAGGGCACCCCCACCAAGCTCGGG GATGAGCGCAGGACTCAGTGAGGACTGGGCCACCCCCGACAAGGAGAGGG CACCCCCACCAAGCTCGGGGATGAACGCAGGACGCAGTGAGGACTGGGCC ACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCGGGGATGAGCGCAGG GCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAA GCTCGGGGATGAGCGCAGGACT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0277 a0006c0007t0005g0277	1	91	0.0110	621	c.251 others(638): Show c.2515-107_2515-106insAGTCCTGCGCTCATCCCCGAGCTTGGTG GGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGCCCTGCG CTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCA GTCCTCACTGCGTCCTGCGTTCATCCCCGAGCTTGGTGGGGGTGCCCTCT CCTTGTCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAG CTTGGTGGGGGTGCCCTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGAG TCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTGTCGGGGG TGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGT GCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCAT CCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCT CACTGAGTCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCCTCTCCTTG TCGGGGGTGGCCCAGTCCTCACTGAGTCCTGCGCTCATCCCCGAGCTTGG TGGGGGTGCCGTCTCCTTGTCGGGGGTGGCCCAGTCCTCACTG	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HPCAL1_chr2_10297904_10432604	10399262	T T	TCACCATC others(614): Show TCACCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCA CCATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCAC CACCACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCA CCACTACCATCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18973.hp2 NA18999.hp1 HG02735.hp2 NA18973.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0001t0001g0050 a0001c0001t0001g0227 a0001c0001t0001g0237	3	233	0.0129	621	c.-25 others(638): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACC ATCACCATCATCACCGCCACCACCACCACCATCACCATCATCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCA CCACCACAACCACCACCACCACCACCATCACCACCACTACCACCACCACC ACCACCATCACCACCACCACTACCATCATCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(614): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTTCATCACCACTACCCCCACCA CTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACC ACTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCA CCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02818.hp2 others(4): Show HG02055.hp1 HG02630.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005	a0001c0001t0002g0098 a0001c0001t0002g0195 a0001c0002t0002g0142 others(4): Show a0001c0001t0002g0098 a0001c0001t0002g0195 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0003g0118 a0001c0002t0004g0246 a0001c0002t0005g0004	7	231	0.0303	621	c.804 others(638): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGG GGGTAGTGGTGATGAAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGT GATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATG AAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGT AGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(614): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18941.hp2 NA18950.hp1 HG00621.hp1 NA18941.hp2 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0002 a0002c0001t0021 a0001c0003t0002 a0002c0001t0021	a0001c0003t0002g0171 a0002c0001t0021g0165 a0002c0001t0021g0166 a0001c0003t0002g0171 a0002c0001t0021g0165 a0002c0001t0021g0166	3	102	0.0294	621	c.623 others(638): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(614): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTTCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCT CCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGC CCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCC TCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTC CCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	124	0.0081	621	c.65 others(632): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCA GGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGG GGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGG GCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGAGGAGAGGAGGAAGTGGGAGGAGGAGGAGAGAAGAG GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGAG GATGAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	5	0.2000	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTCATCCTCTCCTCCTCC TCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCTTCTCTCCT CCTCCTCCCACTTCCTCCTCTCCTCCTCCTCTTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTT CCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGAGGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAGAAGGGAGGAAGGAGGGGGAGGAGGAGAGGA AAGAGTCCGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0094 a0001c0001t0003g0094	1	5	0.2000	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCCTTCTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTC CTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCCTCCTTCCTCTCCTCCTCCTCCCCTCCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTC CTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTC CTCCCTTTCACCTTTTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC CTCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(614): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGA GGAGAGGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGA AGAGAGGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGG AGGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAA AGGAGGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp2 NA19079.hp1 NA18998.hp1 NA18998.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0035 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0001g0035 a0001c0001t0002g0002 a0001c0001t0003g0003	3	7	0.4286	621	c.-46 others(632): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229292	C C	CCACTCAC others(614): Show CCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAA AGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCAC CCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCTGAGAGATCCCTCTCCACCCCGCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCCAACCACCACTCACCCTAAAGATCCCT CCCCATCCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCCCCATCC CCCCCCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACT CACCTGAGATCCCTCTCCACCCCCGCCATCACCACTCACCTGAAAGATCC CTCTCCACCCCCCCACCACTAAACACTCACCCGAAAGATCCCTCCCCATC CCCCCCCACCACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCAC TCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAAACACTCACCCGAA AGATCCCTCTCCATGCCCCCCCACCACCAAACACTCACCTGAAAGATCCC TCTCCACCCCCCCACCACCAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18951.hp1 NA19057.hp1 others(1): Show NA18747.hp1 NA18951.hp1 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0054 a0001c0004t0146 a0001c0004t0149 a0001c0004t0054 a0001c0004t0146 a0001c0004t0149	a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0146g0053 others(1): Show a0001c0004t0054g0051 a0001c0004t0054g0052 a0001c0004t0146g0053 a0001c0004t0149g0064	4	236	0.0169	621	c.64+ others(638): Show c.64+11347_64+11348insTTTGGTGGTGGGGGGGTGGAGAGGGATC TTTCAGGTGAGTGTTTGGTGGTGGGGGGGCATGGAGAGGGATCTTTCGGG TGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGGTG ATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGGGGGGGATGGG GAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAGAGGGATCT TTCAGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCAGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTGGGGGGGGATGG GGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGATGGGGAGGGAT CTTTAGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGT GTTTGGTGGTTGCGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGTGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGG TGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LUC7L_chr16_183990_234449	186527	G G	GGAGGAAC others(614): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	309	0.0032	621	c.26 others(632): Show c.2670_*2671insTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCC TCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2462		chr16	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(614): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTA AATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATA TATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGT ATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTG TAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATA TAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATA TAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATA TATATATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATA TAAATATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTA AATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19084.hp2 NA18951.hp1 NA19084.hp2	a0025 a0025	a0025c0023 a0025c0023	a0025c0023t0002 a0025c0023t0002	a0025c0023t0002g0036 a0025c0023t0002g0040 a0025c0023t0002g0036 a0025c0023t0002g0040	2	41	0.0488	621	c.197 others(640): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA TTTACAAAATATGTATATATTTATATATATTTACAAAATATATATATATT TACAAAATATATATATTTATATATTTACAAAATATATATATTTTTATATA TTTACAACATATATTTTTATATATTTACAAAATGTATATATTTTTATATA TTTACAAAATGTATATATTTATATATTTACAAAATGTATATATTTACAAA ATATATATACATATTTACAAAATATATATATTTACAAAATATATATACAT ATTTACAAAATATATATATTTACTATATATATTTACAAAATATATATATA ATTTACAATATATATATAATTCACAAAATATATATTTATATATATTTACA ATATATATTTACAAAATATATATATATTTACAAAATATATATTTATATAT TTACAAAACATATATATATTTATATATATTTACAAAACATATATATTTAT ATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATTT ATATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(614): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCG GCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGAC TCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCT CACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCAC CCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACC CGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTC CAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGC AGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAG CCCCCACACTCCAGACTCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	102	0.0098	621	c.456 others(638): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCCCAGG CCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTC ACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCA CCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCAC ACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCAC CCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACC CCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTC CAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGC AGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGA CTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334046	T T	TCACCCCT others(614): Show TCACCCCTGCACCCACCCCCCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCC CACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATCCC ATGCCCGTGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCC CTGCACCCATCCCATGCCTACCGTGCTCACCCCCCATGCCCACCCCATGC CCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCC TGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCACCCCCATGCCC GTGTGCTCACCCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCATG CCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCCCATGCC CGTGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCAC CCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGT GCTCACCCCCATGCCCACCACCCATGCCCACCATGTGCCCACCCCTGCAC CCACCCCCCATGCCCGTGTGCC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	229	0.0044	621	c.765 others(638): Show c.765+1200_765+1201insCATGCCCGTGTGCTCACCCCTGCACCCA TCCCATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTG CCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACCCCTGCACCCATC CCATGCCCGTGTGCTCACCCCTGCACCCACCCCCATGCCCGTGTGCTCAC CCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCCATGCCCACCCCAT GCCCACCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGTGCCCACC CCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGCACCCACCCCCATGC CCGTGTGCTCACCCCCTGCACCCATCCCATGCCTACCGTGCTCACCCCCA TGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACCCACCCCCCCATG CCCGTGTGCCCACCCCTGCACCCATCCCATGCCCGTGTGCTCACCCCTGC ACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACC GTGCTCACCCCCATGCCCACCACCCATGCCCACCATGTGCCCACCCCTGC ACCCACCCCCCATGCCCGTGTGCCCACCCCTGCACCCACCCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(614): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCATC ACCACCACCACCCTTCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCACCATCA CCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CATCACCACCATCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	297	0.0034	621	c.391 others(636): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCA CCACCATCACCACCACCACCCTTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCAC CACCATCACCATCACCATCACCACCATCACCACCATCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCATCACCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATC ACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCATCACC others(614): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCA CCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	255	0.0039	621	c.391 others(636): Show c.391+829_391+830insTCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCATCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K19_chr2_134959491_135052447	135033820	G G	GGGGGGCT others(614): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCTGGCGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACACCGCCCTCCCAGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCCCACCTCCCAGCAGGGGTGGC TGGGCAGAGGCGCCCCCCACCCCCCGGACGGGGCGGCTGGCCGGGGGGGC TAACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGTGAACGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGTGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG02895.hp2 HG02897.hp2 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0002g0100	4	327	0.0122	621	c.-28 others(640): Show c.-283-3321_-283-3320insGCCCGGCCAGCCACCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGTTCACCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTTAGCCC CCCCGGCCAGCCGCCCCGTCCGGGGGGTGGGGGGCGCCTCTGCCCAGCCA CCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTG GGAGGGCGGTGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC GCCAGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCC AGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(614): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGGGAGGGGGAGGGGGAG GGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAG GGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGG AGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18971.hp1 NA18747.hp1 NA18971.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0001 a0003c0003t0009g0001	2	9	0.2222	621	c.250 others(636): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCCTCCCTCCC TTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTC CCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCC CTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCT CCCCCTCCCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCC CCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCC CCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCC CCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(614): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTC CCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20300.hp2 HG01074.hp2 NA20300.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0021 a0001c0001 a0014c0021	a0001c0001t0001 a0014c0021t0001 a0001c0001t0001 a0014c0021t0001	a0001c0001t0001g0086 a0014c0021t0001g0090 a0001c0001t0001g0086 a0014c0021t0001g0090	2	5	0.4000	621	c.114 others(640): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCC CTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(614): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCC GGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	246	0.0041	621	c.-8+ others(634): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(614): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCC GGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18971.hp1 NA19084.hp2 others(1): Show NA18964.hp1 NA18971.hp1 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	4	249	0.0161	621	c.-8+ others(634): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(614): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCC GGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCC TGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01496.hp2 HG01515.hp1 HG00140.hp2 HG01496.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	3	248	0.0121	621	c.-8+ others(634): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(614): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAACCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	6	0.1667	621	c.-8+ others(634): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGTTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(614): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGG CCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACC CCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0154 a0001c0010t0001g0154	1	6	0.1667	621	c.-8+ others(634): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYT1_chr20_64159452_64247253	64173518	A A	ACTTCTCC others(614): Show ACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTG ACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCC CTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCC TCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCAT TTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCAT TTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTC CATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGT TGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGT TGTGTCCATTTCCCCTCCCTGG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0213 a0001c0003t0007g0213	1	222	0.0045	621	c.-99 others(638): Show c.-99+8798_-99+8799insTTTCCTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATTTCC CCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGTTGTGTCC ATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCC ATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCCTTCCCTGTAGTTGTG TCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTG TCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTAGTTGTG TCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTTGTAGTT GTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTA GTTGTGTCCATTTTCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(614): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTA TACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0135 a0002c0008t0004g0135	1	118	0.0085	621	c.-75 others(640): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATAC ATACATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(614): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACTGTGTATATATACACAGTATGTAT ACTGCATACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTA TACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02723.hp2 HG02071.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0004 a0001c0001t0005 a0001c0004t0004	a0001c0001t0005g0333 a0001c0004t0004g0301 a0001c0001t0005g0333 a0001c0004t0004g0301	2	119	0.0168	621	c.-75 others(640): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCAGTATAC ATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATAC ATACATACAGTATACATGCTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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