Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PWWP2B_chr10_132392200_132422859	132392570	A A	ATGGTGAT others(653): Show ATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTG ATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTG GTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTG GTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGG TGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG03540.hp2 HG01884.hp2 HG02451.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0046 a0002c0002t0001g0159 a0001c0001t0001g0045 a0001c0001t0001g0046 a0002c0002t0001g0159	3	330	0.0091	660	c.-46 others(671): Show c.-4657_-4656insTGGTGATGGTGATGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTG ATAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGA TGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGG TGGTAATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGA TGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGATGG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4629		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(653): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0053 a0001c0013t0053	a0001c0013t0053g0069 a0001c0013t0053g0069	1	289	0.0035	660	c.809 others(677): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467526	G G	GTCAGGGA others(653): Show GTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAG GTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA GGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGG GCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCA GGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGG AGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAG GTGCTGGGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	289	0.0035	660	c.809 others(677): Show c.809-3754_809-3753insGGGGGCCTCAGGGAGGAGGTGCTGGGGC CTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAG GGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGT CAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAGGTGCGGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGT GCTGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	467548	C C	CTCAGGGA others(653): Show CTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGGAG GTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTG GGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGACGT CAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGA GGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGC AGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGG GAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCTGGGGCG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0206 a0001c0002t0009g0206	1	289	0.0035	660	c.809 others(677): Show c.809-3728_809-3727insGCCTCAGGGAGGAGGTGCTGGGACGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGGGAGG AGGTGCTGGGGCCTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGC TGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCTGGGAC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCGGGGGCGTCAGG GAGGAGGTGCGGGGGCCTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAG GTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGGAGGTGCAG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCCT CAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCAGGGGCCTCAGGGA GGAGGTGCTGGGGCCTCAGGGAGGAGGTGCTGGGACGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCA GGGAGGAGGTGCTGGGACGTCAGGGAGGAGGTGCTGGGGCCTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGATCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0234 a0006c0014t0001g0234	1	221	0.0045	660	c.205 others(675): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGATCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(653): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	221	0.0045	660	c.205 others(675): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(653): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	81	0.0123	660	c.132 others(677): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RIMBP2_chr12_130391133_130721299	130646046	T T	TCCACCTC others(653): Show TCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCACCA CCTCCCTCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACC TCCCTCACCACCTCCCTCACCACTTCCCTCACCACCTCCCTCACCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACTTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTC ACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCTC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACT TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTC CCTCACCACTTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTCCACCTCCCTC ACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACTTCCCTCTC CACCTCCCTCA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	141	0.0071	660	c.-35 others(681): Show c.-351-17591_-351-17590insTGAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGAGAGGGAGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAG GTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAG AGGCAGGTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGCAG GTGGTGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGGTGAGGGAGGT GGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGGTGAGGGAGGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(653): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGAC AGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGG CGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	20	0.0500	660	c.351 others(679): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTC TCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTC CCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1142161	A A	ACTCAATG others(653): Show ACTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCAATGACCTCCCTC ACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGATCAACCCTCACT CAATGACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCC AAGATCAACCCTCCCCTCAATGGCCTCCTTCCCCATGATCAACCCTCACT CAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAATGACCTCCTTCCC CAAGATCAACCCTCCCTCAATGACCTCCCTCACGATCAACCCTCCCCTCA ATGGCCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAA GATCAACCCTCCCCTCAATGACCTCCCTCCTCATGATCAACCCTCCCTCA ATGACCTCCCTCACGATCAACCCTCCCCTCAATGGCCTCCCTCCCCATGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCTTCCCCAAGATCAACCCTCACTCAATGACCTCCTTCCCCACGA TCAACCCTCACTCAATGACCTCCTTCCCCAAGATCAACCCTCCCCTCAAT GACCTCCCTCCCCATGATCAACCCTCACTCAATGACCTCCTTCCCCAAGA TCAACCCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02922.hp1 others(1): Show HG02257.hp1 HG02809.hp2 HG02922.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0010 a0001c0035 a0001c0004 a0001c0010 a0001c0035	a0001c0004t0001 a0001c0010t0001 a0001c0035t0001 a0001c0004t0001 a0001c0010t0001 a0001c0035t0001	a0001c0004t0001g0157 a0001c0004t0001g0160 a0001c0010t0001g0002 others(1): Show a0001c0004t0001g0157 a0001c0004t0001g0160 a0001c0010t0001g0002 a0001c0035t0001g0153	4	10	0.4000	660	c.279 others(677): Show c.279+5147_279+5148insGGGAGGGTTGATCTTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCATGGGGAGGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCGTGGGGAAGGAGGTC ATTGAGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGGGGAGGGTTGA TCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATGGGGAGGGAGGCC ATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGGGAGGGTTGATCA TGAGGAGGGAGGTCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCAT TGAGTGAGGGTTGATCATGGGGAGGGAGGCCATTGAGGGGAGGGTTGATC GTGAGGGAGGTCATTGAGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGA GGGGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATG GGGAAGGAGGCCATTGAGGGGAGGGTTGATCTTGGGGAAGGAGGTCATTG AGTGAGGGTTGATCTTGGGGAAGGAGGTCATTGAGTGAGGGTTGATCATG GGGAGGGAGGCCATTGAGGGGAGGGTTGATCGTGAGGGAGGTCATTGAGG GAGGGTTGATCATGAGGAGGGAGGTCATTGAG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCGB1C2_chr17_132569_144067	141114	T T	TGAGGGGA others(653): Show TGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAAC ATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGAC CTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAG GGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTG AGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGG TGAGGGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACC TGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGG AACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	660	c.21 others(671): Show c.2172_*2173insGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGA CCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGA GGACCTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGA GGAGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATG GGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTT GGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGG GAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGG GGACCTTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGG TGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGGGGGACC TTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGA GGACCTGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGT GAGGGGACCTGGTGAGGGGACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2048		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1289451	T T	TCCCCCGT others(653): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	262	0.0038	660	c.166 others(677): Show c.1663-817_1663-816insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339755	C C	CCCCCACT others(653): Show CCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACT CTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTC CTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTC ATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATT CTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA TCCCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCC CCCCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCC CACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTATCCCCCCACAA GCATCACTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCAT AGCTCCAACCCTCCCCCAACTCTCCTCATTCTACCCCCCCCACAAGCATA GCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCACAAGCACT GCTCCAACCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01261.hp2 HG06807.hp2 HG00642.hp1 HG01261.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0045 a0003c0001 a0001c0003 a0001c0045 a0003c0001	a0001c0003t0003 a0001c0045t0003 a0003c0001t0001 a0001c0003t0003 a0001c0045t0003 a0003c0001t0001	a0001c0003t0003g0039 a0001c0045t0003g0052 a0003c0001t0001g0046 a0001c0003t0003g0039 a0001c0045t0003g0052 a0003c0001t0001g0046	3	194	0.0155	660	c.89- others(673): Show c.89-521_89-520insAGGGTTGGAGCAGTGCTTGTGGGGGGGGGTAG AATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGGGTAGA ATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGGGGGGGTAGAATG AGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAG AGTAGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGT AGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAATGAGGAGCGTGGG GGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGG AGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGG TTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTT GGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAG CAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCT ATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT GTGGGGGGATAGAATGAGGAGAGTGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(653): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATTCC ATATATATATTCCATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATATTCCATATATATATATTCCATATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT ATATTCCATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	283	0.0035	660	c.115 others(677): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATGGAATATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(653): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCCATAT ATATATATTCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	230	0.0043	660	c.115 others(677): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATATGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATATATATATATATATGGAATATATATA TATATGGAATATATATATATATATGGAATATATATATATATGGAATATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(653): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATATTCCATATATATATATTCCATATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT TCCATATATATATATTCCATATATATATATTCCATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATTCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	230	0.0043	660	c.115 others(677): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATGGAATATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATATGGAATAT ATATATATGGAATATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(653): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0129 a0002c0002t0015g0129	1	40	0.0250	660	c.77- others(677): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(653): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTTCCCC CTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC ATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCC CCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0036 a0002c0002t0009g0036	1	45	0.0222	660	c.22+ others(677): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703977	A A	ATATATAC others(653): Show ATATATACACATATAAAATATATATACATATGTTTTATAAGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATAAAATA TATATACATATGTTTTATATGTGTATATATACACATATAAAATATATATA CATATGTTTTATATGTGTATATATACACATATAAAATATATATACATATG TTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTAT ATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGT ATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTATATATACATATAA AATATATATACATATGTTTTATATGTATATATATACATATAAAATATATA TACATATAAAATATATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATATACATATAAAACATATATACATAT GTTTTATATGTGTATATATACATAGAAAATATATATAATATATATACATA TGTTTTATATG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	297	0.0034	660	c.626 others(677): Show c.626+5444_626+5445insCACATATAAAATATATATACATATGTTT TATAAGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAA ATATATATACATATGTTTTATATGTGTATATATACACATATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATATAAAATATATATACAT ATGTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TATATATACATATAAAATATATATACATATGTTTTATATGTATATATATA CATATAAAATATATATACATATAAAATATATATGTTTTATATGTATATAT ACATATAAAATATATATACATATGTTTTATATGTATATATATACATATAA AACATATATACATATGTTTTATATGTGTATATATACATAGAAAATATATA TAATATATATACATATGTTTTATATGTATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(653): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00423.hp2 others(111): Show HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0008 a0001c0012 others(2): Show a0001c0001 a0001c0008 a0001c0012 a0003c0010 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0008t0001 a0001c0012t0001 a0003c0010t0001 a0007c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(95): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0003g0012 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0073 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0124 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0165 a0001c0001t0003g0185 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0238 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0269 a0001c0001t0006g0102 a0001c0001t0006g0112 a0001c0001t0006g0118 a0001c0001t0006g0126 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0010g0109 a0001c0001t0010g0181 a0001c0001t0011g0110 a0001c0001t0013g0075 a0001c0001t0024g0113 a0001c0001t0027g0108 a0001c0001t0029g0037 a0001c0001t0030g0114 a0001c0001t0031g0121 a0001c0008t0001g0080 a0001c0008t0001g0120 a0001c0012t0001g0242 a0003c0010t0001g0260 a0007c0011t0001g0182	114	119	0.9580	660	c.949 others(675): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(653): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03540.hp2 others(1): Show HG03209.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0006g0031 a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0006g0031	4	9	0.4444	660	c.949 others(675): Show c.949+179_949+180insACCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(653): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCTGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18948.hp1 NA18951.hp2 others(3): Show HG00621.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18980.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0005 a0001c0001t0001g0143 a0001c0001t0001g0144 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0003g0140	6	11	0.5455	660	c.949 others(675): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCA GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(653): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGTGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	6	0.1667	660	c.949 others(675): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCACGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(653): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAG GGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	6	0.1667	660	c.949 others(675): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTG CCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531246	G G	GAGGTGGC others(653): Show GAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTG GCGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGG AGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTC CGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGG AAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGAT CCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGG GGCAGGGGGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGG GGGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGG TGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGG GGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCC TCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGG GGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGG ATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCAC GGGGCAGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03486.hp1 HG02258.hp2 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0235 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0235	3	316	0.0095	660	c.949 others(675): Show c.949+142_949+143insTCCCCTGCCCCGTGGATCCTTCCCCCGGAG GCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCC CGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCAC CTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCC CTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCC CGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGA TCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTC CCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTCCCCCGG AGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCC ACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCC CCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGC CCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTG GATCCTTCCCCCGGAGGCTCCCCGCCACCT	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(653): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	2	0.5000	660	c.624 others(675): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC6A12_chr12_185081_219157	197110	C C	CATCCATC others(653): Show CATCCATCTACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACC CATCCATCCATCCATCTACCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCTATCCATCTATCCATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCA TCTACCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0039 a0002c0009t0002g0040 a0002c0009t0002g0039 a0002c0009t0002g0040	2	409	0.0049	660	c.107 others(677): Show c.1076-229_1076-228insAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATGGGTAGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATAGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATGGATGGGTAGATGGATGGATGGATGGGTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGGTAGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(653): Show AGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGG GAGGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGGAGAGGGG GAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAG GGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAG AGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGG GAAGGGGAGGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGGAAGTGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGA GGGGAGGAGGGAGGGGGAGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGG GAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGG TGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	660	c.12 others(671): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCC CTTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCT CCCCCTTCCACTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTC CCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCC TCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCT CTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTC CCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCCTCCCTGCCCTG CCCTCCCCTCCCCACCCTCCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNTG2_chr2_945849_1372613	1221591	T T	TCTCTGCC others(653): Show TCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTC TCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTC TGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTC TCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTC TCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTC CCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTG TCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTGTGTC CCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCATCTGCC TCTCTCTGTCTCTGTCTCTGCTTCTCTCTGTCTCTCTCTTTGTCCCTCTC TGTCTCTGTCTCTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTG TCTCTCCCTGTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCC TCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTC TCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTC TCTGCCTCTGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0011 a0003c0008t0001g0011	1	149	0.0067	660	c.719 others(679): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCC CCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTC TCTCTCTGTCTCTGCATCTGCCTCTCTCTGTCTCTGTCTCTGCTTCTCTC TGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTAGCTC TGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCAC TGTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTG TCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTC TCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOX11_chr2_5687384_5706385	5706346	G G	GCTGGGGT others(653): Show GCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGG GTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAG GAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTG GGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGC TGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGT GGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGA GCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGAAGCTGGG AGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTG GGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGG AGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGC TGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAG GCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGG GTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAG GAGCAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0000 a0001c0001t0016g0000	1	302	0.0033	660	c.12 others(673): Show c.12299_*12300insCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGA GGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCA GGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGG CTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGG TGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGG AGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGG GAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACT GGGGTGGAGAAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTG GAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAG CAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGA GGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGG GGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTGGA GGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCT GGGAGGCTGGGGTGGAGGAGCAGGGAGA	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4962		chr2	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TATATATA others(653): Show TATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATGTG CATATATACGCATATATGCGTGTATATGTGCATATATACGCATATATGCG TGTATATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACG CATATATGCGAGTATATGTGCATATATACGCATATATGTGTGTATATGTG CATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTG TGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACG CATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTG CATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTG TGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACG CATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTG CATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTG TGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACG CATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTG CATATATACGC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	25	0.0400	660	c.152 others(679): Show c.152-68377_152-68376insATATGTATATATGTGTATATGTGTGT ATATATGTATATATGTGCATATATACGCATATATGCGTGTATATGTGCAT ATATACGCATATATGCGTGTATATGTGCATATATACGCATATATGCGTGT ATATGTGCATATATACGCATATATGCGAGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGAGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCAT ATATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGT ATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCAT ATATGTGTGTATATGTGCATATATACGCATATAT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32C_chr10_132202492_132312950	132251814	A A	AGACCCTC others(653): Show AGACCCTCCACTACCCACCACAGGCAGGTCAATGCCCTACGCCTCCTGGG GCCTCAGACCCTCCACTACCCACCACAGGCAGGTCAATGCCCTACGCCTC CTGGGGCCTCAGACCCTCCACTACTCACCACAGGCAGGTCGATGCCCTAC GCCTCCTGGGGCCTCAGACCCTCCACTACCCACCACAGGCAGGTCGATGC CCTACGCCTCCTGGGGCCTCAGACCCTCCACTACCCACCACAGGCAGGTC AATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCACTACTCACCACAGGC AGGTCAATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCACTACCCACCA CAGGCAGGTCAATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCACTACC CACCACAGGCAGGTCAATGCCCTACGCCTCCTGGGGCCTCAGACCCTCCA CTACTCACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTCAGACC CTCCACTACCCACCACAGGCAGGTCGATGCCCTACGCCTCCTGGGGCCTC AGACCCTCCACTACCCACCACAGGCAGGTCAATGCCCTACGCCTCCTGGG GCCTCCGACCCTCCACTACCCACCACAGGCAGGTCAACACCCTACACCTC CTGGGGCCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	314	0.0032	660	c.263 others(677): Show c.263-5860_263-5859insGGAGGCCCCAGGAGGTGTAGGGTGTTGA CCTGCCTGTGGTGGGTAGTGGAGGGTCGGAGGCCCCAGGAGGCGTAGGGC ATTGACCTGCCTGTGGTGGGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGT AGGGCATCGACCTGCCTGTGGTGGGTAGTGGAGGGTCTGAGGCCCCAGGA GGCGTAGGGCATCGACCTGCCTGTGGTGAGTAGTGGAGGGTCTGAGGCCC CAGGAGGCGTAGGGCATTGACCTGCCTGTGGTGGGTAGTGGAGGGTCTGA GGCCCCAGGAGGCGTAGGGCATTGACCTGCCTGTGGTGGGTAGTGGAGGG TCTGAGGCCCCAGGAGGCGTAGGGCATTGACCTGCCTGTGGTGAGTAGTG GAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATTGACCTGCCTGTGGTGGG TAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGCCTGTG GTGGGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATCGACCTGC CTGTGGTGAGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGCATTGA CCTGCCTGTGGTGGGTAGTGGAGGGTCTGAGGCCCCAGGAGGCGTAGGGC ATTGACCTGCCTGTGGTGGGTAGTGGAGGGTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(653): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACC CATCCTCCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCC TCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCAC CCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCC TCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCAC CCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCC CTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTC CACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCA CCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCAT CCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0095 a0001c0001t0006g0095	1	7	0.1429	660	c.142 others(681): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATC CCTCCATCCTCCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCT CCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATC CTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCCT CACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATC CCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCC CACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCACCCCA CCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(653): Show CGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC GCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCT GATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp1 HG02622.hp1 others(1): Show HG00642.hp2 HG01884.hp1 HG02622.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0090 a0001c0001t0002g0009 a0001c0001t0002g0052 others(1): Show a0001c0001t0001g0090 a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0007g0044	4	37	0.1081	660	c.142 others(679): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGG TGTGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(653): Show CGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC GCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCT GATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02895.hp2 HG03516.hp2 HG02074.hp2 HG02895.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0076 a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0076	3	36	0.0833	660	c.142 others(679): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGG TGTGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(653): Show CGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC GCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAACCTTCCT GATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	34	0.0294	660	c.142 others(679): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAG TCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGG TGTGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82846319	C C	CATGCCAC others(653): Show CATGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCG TCCTCTGTGCCGTGTCCTCTTGTCCAGCCCTCTGCTGCCCCCTCCACGCG CTGCGTCCCCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCC ACGTGCTGCGTCCGGCATGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCC CCTCCACGCGCTGCGTCCCCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGC TGCCCCCTCCACGTGCTGCGTCCGGCGTGCCACGTCCCCTCGTCCAGCCC TCTGCTGCCCCCTCCACGCGCTGCGTCCCCTGTGCCGTGTCCTCTCGTCC AGCCCTCTGCTGCCCCCTCCACGTGCTGCGTCCGGCATGCCACGTCCCCT CGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCCCTGTGCCGTGT CCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACGTGCTGCGTCCGGCGTGC CACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCCC TGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACGTGCTGCG TCCGGCATGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCG CTGCGTCCTCT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	126	0.0079	660	c.131 others(681): Show c.1319-23905_1319-23904insATGCCACGTCCCCTCGTCCAGCCC TCTGCTGCCCCCTCCACGCGCTGCGTCCTCTGTGCCGTGTCCTCTTGTCC AGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCCCTGTGCCGTGTCCTCT CGTCCAGCCCTCTGCTGCCCCCTCCACGTGCTGCGTCCGGCATGCCACGT CCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCCCTGTGC CGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACGTGCTGCGTCCGG CGTGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCCACGCGCTGCG TCCCCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCCCCTCCACGTG CTGCGTCCGGCATGCCACGTCCCCTCGTCCAGCCCTCTGCTGCCCCCTCC ACGCGCTGCGTCCCCTGTGCCGTGTCCTCTCGTCCAGCCCTCTGCTGCCC CCTCCACGTGCTGCGTCCGGCGTGCCACGTCCCCTCGTCCAGCCCTCTGC TGCCCCCTCCACGCGCTGCGTCCCCTGTGCCGTGTCCTCTCGTCCAGCCC TCTGCTGCCCCCTCCACGTGCTGCGTCCGGCATGCCACGTCCCCTCGTCC AGCCCTCTGCTGCCCCCTCCACGCGCTGCGTCCTCT	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38			chr17	TogoVar
TENM4_chr11_78647829_79446030	79139595	A A	ATATATAA others(653): Show ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAA TATATATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAA ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAA TATATATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAA ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAA TATATATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAA ATATATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTAT ATTTCTAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAA TATATATTATATTTATAGAAATATATAAAATATATATTATATTTATAGAA ATATATAAAATATATATTATATTTATAGAAATATATAAAATATATATTAT ATTTATATAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0061 a0001c0001t0013g0061	1	68	0.0147	660	c.-66 others(677): Show c.-66+9114_-66+9115insCTTATATAAATATAATATATATTTTATA TATTTCTATAAATATAATATATATTTTATATATTTCTATAAATATAATAT ATATTTTATATATTTCTATAAATATAATATATATTTTATATATTTCTATA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATAT ATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATAT ATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATAATAT ATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGA AATATAATATATATTTTATATATTTCTAGAAATATAATATATATTTTATA TATTTCTAGAAATATAATATATATTTTATATA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(653): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCCCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCC ACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	329	0.0030	660	c.-13 others(671): Show c.-1313_-1312insAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGGGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACACAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(653): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCT CTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTT CTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCT GTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0195 a0001c0001t0016g0195	1	111	0.0090	660	c.924 others(677): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGAGACAGAGACAGAGA GAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGA GACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132B_chr12_125181386_125667369	125204500	A A	AGGCTCCG others(653): Show AGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCA TGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTT TATGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCAGGC ACTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAATGAGG GCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCATG AATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTA TGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCCATGTGCCAGGCAG GGTGCTCAGCCCTTTGTGTGGAGTATCTCATGAATCCTTTCAATGAGGGC TCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAA TCCTTTCAGCGAGGGCTCCATTAACCAGGCACTGTGCTTAGCCCTTTGTG TGGAGTATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTG TGCTTAGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAGCGAGGGCTC CATTAACCAGGCACTGTGCTTAGCCCTTTGTGTGGAGTATCTCATGAATC CTTTCAATGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0011 a0001c0012t0011	a0001c0012t0011g0083 a0001c0012t0011g0083	1	122	0.0082	660	c.67+ others(677): Show c.67+17970_67+17971insATGTGCCAGGCAGGGTGCTCAGCCCTTT GTGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCA CTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAGCGAGGG CTCCATTAACCAGGCACTGTGCTTAGCCCTTTGTGTGGAGTATCTCATGA ATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTAT GTGGAGTATCTCATGAATCCTTTCAGCGAGGGCTCCATTAACCAGGCACT GTGCTTAGCCCTTTGTGTGGAGTATCTCATGAATCCTTTCAATGAGGGCT CCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAAT CCTTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGT GGAGTATCTCATGAATCCTTTCAATGAGGGCTCCGTGTACCAGGCACTGT GCTTAGCTCTTTATGTGGAGTATCTCATGAATCCTTTCAATGAGGGCTCC GTGTACCAGGCACTGTGCTTAGCTCTTTATGTGGAGTATCTCATGAATCC TTTCAATGAGGGCTCCGTGTACCAGGCACTGTGCTTAGCTCTTTATGTGG AGTATCTCATGAATCCTTTCAATGAGGGCTCC	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(653): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0281 a0001c0010t0001g0281	1	347	0.0029	660	c.728 others(675): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(653): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	10	0.1000	660	c.-25 others(679): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCT CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC TCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(653): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0069 a0002c0002t0001g0069	1	10	0.1000	660	c.-25 others(679): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCT CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC TCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCT others(653): Show CTCTCCCTCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCT CCCCCTTACCCTTCCCCTTCCCCCCCCTCTGCCCTCCCCTATCCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCTCTCCCTCCCCTCTCCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0001 a0021c0019t0001	a0021c0019t0001g0051 a0021c0019t0001g0051	1	10	0.1000	660	c.-25 others(679): Show c.-25-12116_-25-12115insTCCCTCTCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTCCCCTCTCCCCTCCCCCTT CCCCCTCTCCTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCCTCTGCC CTCCCCTATCCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTC CCCTATCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCTCT CCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCT CCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCT CCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930701	T T	TAGGGAGG others(653): Show TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAG GGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAG AGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGAGAGGCCAGGGGTT AGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGA GACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	446	0.0022	660	c.48 others(671): Show c.4889_*4890insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCTTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4668		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930775	G G	GGTTAGGG others(653): Show GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGA GGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	430	0.0023	660	c.48 others(671): Show c.4815_*4816insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCT AACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTT GGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCT CCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTT GGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4594		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(653): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATAAAAATTATATATATTATATATATAAAAATTATATAT ATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATTATATATATA TAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	144	0.0069	660	c.28 others(671): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATAAAAATTATATATATTATATAT ATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATTATAT ATATATAAAAATTATATATATATTATATATATAAAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152124	A A	AGGGGTGA others(653): Show AGGGGTGAGTGAGAGTGGGGATGAGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGAAGTGAGAGTGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGTGTGAGAAGGGGAGTGAGAGTGGGGGGTGAGAAGG GGAGTGAGAGTGTGGGGGTGAGAAGGGGGAGTGAGAGAGGGGGTGTGAGA AGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAA GGGGAGTGAGAGGAGGGTGAGAAGGGGGAGTGAGGAGTGGGGGGTGAGAA GGGGAGTGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGG TGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGGAGTGGAGAGTGGGGGTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGTGGAGAGGGGTTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGGGTTGGGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGTGAGTGT GGGGGTGAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	219	0.0046	660	c.47 others(671): Show c.4752_*4753insGGGGTGAGTGAGAGTGGGGATGAGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGTGAGAAGGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGTGTGAGAAGGGGAGTGAGAG TGGGGGGTGAGAAGGGGAGTGAGAGTGTGGGGGTGAGAAGGGGGAGTGAG AGAGGGGGTGTGAGAAGGGAAGTGAGAGTGGGGCTGAGAAGGGGAGTGAG AGTGGGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAAGTGAG AGTGGGGGTTGAGAAGGGGAGTGAGAGGAGGGTGAGAAGGGGGAGTGAGG AGTGGGGGGTGAGAAGGGGAGTGAGAGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGGAGAGTGGGGG TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGTGGAGAGGGGTT GAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGGGAGAGAGGGGGGTT GGGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGGTGAGTGTGGGGGTGAGAT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4382		chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(653): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAAC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0080 a0001c0001t0068g0080	1	87	0.0115	660	c.41- others(677): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATAACATGATGATATGATACTATATCATCATA TAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar

Search by Variant

Search

Search Results