Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(438): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGAGAGG GGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGA GGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGG GGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGG CGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0278 a0003c0003t0001g0278	1	350	0.0029	445	c.248 others(460): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCC CCTCCCCTCACCTCCCCCTCTCCTCACCTTCCCCTCCCCTCCCACTCGTC GACTCCCCTCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTC CCCCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCC TCCCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCC CCTCCCCTCCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC ACCTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(438): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTT CCGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	286	0.0035	445	c.539 others(460): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACACC CCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAG ACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAG ATACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAG ATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGG ACGCCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(438): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCAGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTG GGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCG CGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTG GGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTC CGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	286	0.0035	445	c.539 others(460): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGAGACGCCCCCAGATACCCGCGGGAGCCCCCA CACCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCG GAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCTGCGGACGCCCCC AGATACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCG GACGCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(438): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGGTGTGGGGGCGTCCGCGGG TATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGG GGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	286	0.0035	445	c.539 others(458): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA AGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(438): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGGGCTTCTGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGG GGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0035 a0004c0004t0001g0035	1	286	0.0035	445	c.539 others(458): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCCGCAG AAGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(438): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGG GCGTCTGCGGGGGTGTGGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGATGTGGGGGCGTCCTCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	286	0.0035	445	c.539 others(458): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGAGGA CGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCCAC ACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAG AAGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431597	T T	TTCTGCAG others(438): Show TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGGCGTCCGCGGG TATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGG GGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGG GGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	286	0.0035	445	c.539 others(458): Show c.539+96_539+97insCGCCCCCAGATACCCGCGGGTGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGATG CCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGA TACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGA AGCCCCCCCAGATACCCGCGGACGCCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCAC GGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCTGCAGA	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1873654	G G	GCCGCGGG others(438): Show GCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGC GGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCA TCCGCATTTCCTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTT CCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAG TTGCCTTCAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCG TTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAG AGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGCGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0237 a0002c0017t0002g0237	1	363	0.0028	445	c.680 others(462): Show c.680-2886_680-2885insGCGTTGAGAGGCGCCCGCGGGGTAGTGC ACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGC ATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTC CTCGCGTTGAGAGGTACCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCC TTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTCAG AGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTG CCCGCGGGGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGC GGGGTAGTGCACCCGCATTTCCTCGTTTCATTGAGCGGTGCCCGCGGGGT AGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGCGGGGTAGTGC ACCCGCATTTCCTCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10B_chr5_160558120_160857211	160654008	T T	TACTATAT others(438): Show TACTATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATA TACGTATATACAACATAAATATATGTTGTATATACGTATATACAACATAA ATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATATACG TATATACATATATAAATATATGTTGTATATACGTATATACATATATAAAT ATATGTTGTATATACGTATATACTATATATGTTGTATATACGTATATACA ACATATATTTATATATGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	236	0.0042	445	c.676 others(462): Show c.676-4753_676-4752insTGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATATTTA TGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATAT ACATATATAAATATATGTTGTATATACGTATATACAACATATATAGTATA TACGTATATACAACATATATTTATATATGTATATACGTATATACAACATA TATTTATATATGTATATACGTATATACAACATATATTTATGTTGTATATA CGTATATACAACATATATTTATGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATAGT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP10B_chr5_160558120_160857211	160654008	T T	TACTATAT others(438): Show TACTATATATGTTGTATATACGTATATACAACATAAATATATGTTGTATA TACGTATATACAACATAAATATATGTTGTATATACGTATATACAACATAA ATATATGTTGTATATACGTATATACATATATAAATATATGTTGTATATAC GTATATACATATATAAATATATGTTGTATATACGTATATACTATATATGT TGTATATACGTATATACAACATATATTTATATATGTATATACGTATATAC AACATAAATATATGTTGTATATACGTATATACAACATAAATATATGTTGT ATATACGTATATACAACATAAATATATGTTGTATATACGTATATACATAT ATAAATATATGTTGTATATACGTATATACATATATAAATATATGTTGTAT ATACGTATATACATATATAAATATATGTTGTATATACGTATATACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	236	0.0042	445	c.676 others(462): Show c.676-4753_676-4752insTGTATATACGTATATACAACATATATTT ATATATGTATATACGTATATACAACATATATTTATATATGTATATACGTA TATACAACATATATTTATATATGTATATACGTATATACAACATATATTTA TGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTATAT ACAACATATATTTATGTTGTATATACGTATATACATATATAAATATATGT TGTATATACGTATATACAACATATATAGTATATACGTATATACAACATAT ATTTATATATGTATATACGTATATACAACATATATTTATATATGTATATA CGTATATACAACATATATTTATGTTGTATATACGTATATACAACATATAT TTATGTTGTATATACGTATATACAACATATATTTATGTTGTATATACGTA TATACAACATATATAGT	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25			chr5	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(438): Show ATATATATATATATATATATATATATATAGTTTATATATATATAGTTTAT ATATATATAAACTATATATATAGTATATATATAAACTATATATATAGTAT ATATATATACTATATATATAGTATATATATATACTATATATATAGTATAT ATATATACTATATATATAGTATATATATATACTATATATAGTTTATATAT ATATACTATATATATAGTTTATATATATATATACTATATATAGTATATAT ATATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATACTA TATATAGTTTATATATATATACTATATATATAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19005.hp1 NA19087.hp2 NA18973.hp1 NA19005.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0046 a0001c0001t0006 a0001c0001t0046	a0001c0001t0006g0269 a0001c0001t0006g0277 a0001c0001t0046g0268 a0001c0001t0006g0269 a0001c0001t0006g0277 a0001c0001t0046g0268	3	304	0.0099	445	c.331 others(464): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTATATATATATACTATATATATAGTTTATATATATACTA TATATATAGTTTATATATATATAAACTATATATATATAAACTATATATAT ATATATATATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BAHCC1_chr17_81390457_81471331	81426208	A A	ATGATGTG others(438): Show ATGATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAG TCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGGGG TGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGATGTGGT TGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTCGTGGGTGA TGTGGTTGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTGATAGTGGTG GGTGATGTGCTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGTGATGT GGTTGGTGGTGATAGTGGTGGGTGATGTGGTTGGGGGTGATGGTGGGTGA TGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGGTGGTAATGTGGTT GGTGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTTATGTGGTTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(28): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp2 HG02109.hp2 HG02258.hp1 HG02280.hp2 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 NA19240.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0009 a0010 a0018 a0030 a0049 a0052 a0053 a0054	a0001c0009 a0001c0012 a0001c0094 others(15): Show a0001c0009 a0001c0012 a0001c0094 a0002c0001 a0002c0063 a0003c0002 a0003c0018 a0004c0004 a0004c0011 a0004c0035 a0009c0013 a0010c0031 a0018c0039 a0030c0090 a0049c0098 a0052c0038 a0053c0040 a0054c0041	a0001c0009t0025 a0001c0009t0037 a0001c0012t0002 others(17): Show a0001c0009t0025 a0001c0009t0037 a0001c0012t0002 a0001c0094t0009 a0002c0001t0002 a0002c0063t0020 a0003c0002t0013 a0003c0018t0002 a0004c0004t0002 a0004c0004t0014 a0004c0011t0002 a0004c0035t0002 a0009c0013t0006 a0010c0031t0004 a0018c0039t0011 a0030c0090t0002 a0049c0098t0002 a0052c0038t0002 a0053c0040t0002 a0054c0041t0019	a0001c0009t0025g0252 a0001c0009t0037g0319 a0001c0012t0002g0137 others(27): Show a0001c0009t0025g0252 a0001c0009t0037g0319 a0001c0012t0002g0137 a0001c0094t0009g0016 a0002c0001t0002g0132 a0002c0063t0020g0251 a0003c0002t0013g0024 a0003c0018t0002g0143 a0004c0004t0002g0003 a0004c0004t0002g0092 a0004c0004t0002g0093 a0004c0004t0002g0218 a0004c0004t0002g0219 a0004c0004t0002g0269 a0004c0004t0002g0271 a0004c0004t0002g0272 a0004c0004t0014g0190 a0004c0011t0002g0023 a0004c0011t0002g0162 a0004c0035t0002g0215 a0009c0013t0006g0029 a0009c0013t0006g0140 a0009c0013t0006g0163 a0010c0031t0004g0015 a0018c0039t0011g0270 a0030c0090t0002g0265 a0049c0098t0002g0267 a0052c0038t0002g0144 a0053c0040t0002g0268 a0054c0041t0019g0013	31	332	0.0934	445	c.179 others(460): Show c.179-548_179-547insGATAGTCGTGGGTGATGTGGTTGGGGGTGA TAGTGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGTGGTTGG TGGTGATAGTCGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGGTGATGT GGTTGGTGGTGATAGTCGTGGGTGATGTGGTTGGGGTGATAGTGGTGGGT GATGTGGTTGGTGGTGATAGTGGTGGGTGATGTGCTTGGGGGTGATAGTG GTGGGTGATGTGGTTGGTGTGATGTGGTTGGTGGTGATAGTGGTGGGTGA TGTGGTTGGGGGTGATGGTGGGTGATGTGGTTGGGGGTGATAGTGGTGGG TGATGTGGTTGGTGGTAATGTGGTTGGTGGTGATGTGGTTGGTGTGATGT GGTTGGTGGTTATGTGGTTGGTGATGTGGTTGGTGGTGATAGTGGTGGGT GATGTGGTTGGTGGT	BAHCC1	ENSG00000266074.11	transcript	ENST00000675386.2	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1QTNF12_chr1_1237453_1251722	1245142	T T	TCCCTCCT others(438): Show TCCCTCCTCCCCACTCCTCTGCCTCCTCCCCCTTCCCCCTCCTCCCCCCA CTCCTCTCCCCTCTTCCCCGACTCCTTCCCCTACTCATCTCCCTCCTCCC CCACTCCTCGCCCTCCTCTCCCACTCCTCCCCTCCTCCCCCACTCCTCCC CCCACTGCTCTCCCCCTCTTCCCCCCACTCCTCCCCCACTCCTCTCCCCT CCTTCTCCACTCCTCTCCCCTCCCACTCCTCCCCCACTCCTGTCCCCTCC TCCCCCCTCTTCCCCCTCCTCCCCCCACTCCTCATCTCCCTCCTCCCCAC TCCTCTCCCCTCTTCCCCCCACTCCCCCCACTCCTCCCCCACTCCTCTCC CCTCTTGCCCCCACTCCTCCCCCACTCCTTCCCCACTCCTCTCCTCTCTT CCCCCCACTCCTCCCCCACTCCTCTCCCCTCCTCCCCACTCCTCTC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	328	0.0031	445	c.178 others(460): Show c.178-646_178-645insGAGAGGAGTGGGGAGGAGGGGAGAGGAGTG GGGGAGGAGTGGGGGGAAGAGAGGAGAGGAGTGGGGAAGGAGTGGGGGAG GAGTGGGGGCAAGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAGTGGGG GGAAGAGGGGAGAGGAGTGGGGAGGAGGGAGATGAGGAGTGGGGGGAGGA GGGGGAAGAGGGGGGAGGAGGGGACAGGAGTGGGGGAGGAGTGGGAGGGG AGAGGAGTGGAGAAGGAGGGGAGAGGAGTGGGGGAGGAGTGGGGGGAAGA GGGGGAGAGCAGTGGGGGGAGGAGTGGGGGAGGAGGGGAGGAGTGGGAGA GGAGGGCGAGGAGTGGGGGAGGAGGGAGATGAGTAGGGGAAGGAGTCGGG GAAGAGGGGAGAGGAGTGGGGGGAGGAGGGGGAAGGGGGAGGAGGCAGAG GAGTGGGGAGGAGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C2CD4C_chr19_400445_414147	400788	G G	GGGGTTCC others(438): Show GGGGTTCCCAGGCCCACCCTCACTCTTGCAGGGGTTCCCAGGCCCACCCT CACTCTTGCAGGGGTTCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCA GGCTCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCAG GGTTCCCAGGCCCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCAC TCTTCTAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGCGGTTCCCAGGC CCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGG GTCCCCAGGCCCACCCTCACTCTTCCAGGGGTCCCCAGGCCCACCCTCAC TCTTCCAGGGGTCCCCAGGCCCACCCTCACTCTTCCAGGGGTTCCCAGGC TCACCCTCACTCTTCCAGGGTTCCCAGGCCCACCCTCACTCTTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0165 a0001c0001t0117g0165	1	322	0.0031	445	c.63 others(456): Show c.6307_*6308insTGGAAGAGTGAGGGTGGGCCTGGGAACCCTGGAA GAGTGAGGGTGAGCCTGGGAACCCCTGGAAGAGTGAGGGTGGGCCTGGGG ACCCCTGGAAGAGTGAGGGTGGGCCTGGGGACCCCTGGAAGAGTGAGGGT GGGCCTGGGGACCCCTGGAAGAGTGAGGGTGGGCCTGGGGACCCCTGGAA GAGTGAGGGTGGGCCTGGGAACCGCTGGAAGAGTGAGGGTGGGCCTGGGG ACCCCTAGAAGAGTGAGGGTGGGCCTGGGAACCCTGGAAGAGTGAGGGTG GGCCTGGGAACCCTGGAAGAGTGAGGGTGGGCCTGGGAACCCTGGAAGAG TGAGGGTGAGCCTGGGGACCCCTGGAAGAGTGAGGGTGGGCCTGGGAACC CCTGCAAGAGTGAGGGTGGGCCTGGGAACCCCTGCAAGAGTGAGGGTGGG CCTGGGAACCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		4656		chr19	TogoVar
C7orf50_chr7_992006_1143247	1031470	G G	GGGGCAGA others(438): Show GGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCT GCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAG AGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC GGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGC AGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAG TGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGG CAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAG GGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGTG GTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0100 a0001c0001t0016g0100	1	326	0.0031	445	c.130 others(464): Show c.130-21328_130-21327insGCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCC CGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCTGC CCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGT CTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCG GACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCC TCCCTGCAGGTCTCTGCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185595	T T	TCGGCATG others(438): Show TCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGCGTATGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	338	0.0030	445	c.300 others(462): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGG GTGCGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182087	T T	TACACACT others(438): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACTCACATACAGACACAACCACACCACACACACACATACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01515.hp1 HG01517.hp2 others(3): Show HG01255.hp1 HG01515.hp1 HG01517.hp2 HG02280.hp2 HG02559.hp1 HG03486.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0012 a0003c0003 a0010c0012	a0003c0003t0002 a0010c0012t0002 a0003c0003t0002 a0010c0012t0002	a0003c0003t0002g0009 a0003c0003t0002g0106 a0010c0012t0002g0012 others(1): Show a0003c0003t0002g0009 a0003c0003t0002g0106 a0010c0012t0002g0012 a0010c0012t0002g0284	6	460	0.0130	445	c.193 others(462): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACACACACACTCACATACAG ACACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC6_chr10_59783747_59911556	59882204	G G	GGAAAGCC others(438): Show GGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAG CCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGG GGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAA GGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0057 a0001c0001t0029g0057	1	288	0.0035	445	c.303 others(464): Show c.303+23917_303+23918insTTTCCTTCTCCCCCTGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCT CCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCT GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTC TCCCCGCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGC CGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGC TTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	420003	T T	CTCCATTA others(438): Show CTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0229 a0003c0003t0002g0229	1	432	0.0023	445	c.413 others(462): Show c.413+1366_413+1367insCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACA TAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(438): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TAAACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp2 HG01891.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0022 a0001c0001t0005 a0001c0001t0022	a0001c0001t0005g0362 a0001c0001t0022g0283 a0001c0001t0005g0362 a0001c0001t0022g0283	2	396	0.0051	445	c.349 others(460): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA AACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATATACTATATATACTATA TATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(438): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATAGTAGTATATATACTACTATATAT ACTACTATATATAGTATATACTATATATACACTATATATACACTATATAT AGCATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTT ATATATACTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02055.hp1 HG01074.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0245 a0001c0001t0005g0047 a0001c0001t0005g0245	2	396	0.0051	445	c.349 others(460): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATATACTATATATACTATA TATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDC34_chr19_526760_547087	534411	C C	CCCCGAGT others(438): Show CCCCGAGTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAGACCCCCGA GTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAGACCCCCGAGTACCC TCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCCTGAGTGCCCTCCCT GTCCAGACCTCACCCACGATCCAAGACCCCCTGTATGCCCTCCCTGTCAA GGCCTCGCCCACGATCCAAGACCCCCTGAGTGCCCTCCCTGTCCAGACCT CGCCCACAATCCAAGACCCCCGAGTACCCTCCCTGTCCAGACCTCGCCCA CGATCCAAGACCCCCTGTATGCCCTCCCTGTCCAGACCTCGCCCACGATC CAAGACTCCCGAGTACCCTCCCTGTCCAGACCTCGCCCACGATCCAAGAC CCCCTGAGTGCCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	328	0.0031	445	c.178 others(462): Show c.178-1419_178-1418insGCCCTCCTTGTCCAGGCCTCGCCCACGA TCCAAGACCCCCGAGTGCCCTCCTTGTCCAGGCCTCGCCCACGATCCAAG ACCCCCGAGTACCCTCCCTGTCCAGACCTCGCCCACGATCCAAGACCCCC TGAGTGCCCTCCCTGTCCAGACCTCACCCACGATCCAAGACCCCCTGTAT GCCCTCCCTGTCAAGGCCTCGCCCACGATCCAAGACCCCCTGAGTGCCCT CCCTGTCCAGACCTCGCCCACAATCCAAGACCCCCGAGTACCCTCCCTGT CCAGACCTCGCCCACGATCCAAGACCCCCTGTATGCCCTCCCTGTCCAGA CCTCGCCCACGATCCAAGACTCCCGAGTACCCTCCCTGTCCAGACCTCGC CCACGATCCAAGACCCCCTGAGTGCCCTCCCTGTCCAGACCTCGCCCACG ATCCAAGACTCCCGAGT	CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(438): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0017	a0002c0001t0017g0006 a0002c0001t0017g0006	1	354	0.0028	445	c.69 others(456): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20320376	T T	TATATATT others(438): Show TATATATTATATATGTAATATAATATATGTAATATATATTATATATGTAA TATATAATATATGTAATATATATTATATATATTATATATGTAATATATAT TATATATATTATATATATTATATATGTAATATATATTATATATATTATAT ATATTATATATGTAATATATATTATATATATTATATATATTATATATGCA ATATATATTATATATATTATATATGCAATATATATTATATATTACATATG TAATATATATATTATATATTACATATGTAATATATATTACATATGTAATA TATATTATATATGTAATATATATTACATATATTATATATGTAATATATAA TATATATTATATATGTAATATATATTATATATGTAATATATAATATATAT GTAATATATAATATATATTATATATGTAATATATATTATATATGTA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0184 a0004c0008t0003g0184	1	236	0.0042	445	c.342 others(466): Show c.3423-21449_3423-21448insTATATATGTAATATAATATATGTA ATATATATTATATATGTAATATATAATATATGTAATATATATTATATATA TTATATATGTAATATATATTATATATATTATATATATTATATATGTAATA TATATTATATATATTATATATATTATATATGTAATATATATTATATATAT TATATATATTATATATGCAATATATATTATATATATTATATATGCAATAT ATATTATATATTACATATGTAATATATATATTATATATTACATATGTAAT ATATATTACATATGTAATATATATTATATATGTAATATATATTACATATA TTATATATGTAATATATAATATATATTATATATGTAATATATATTATATA TGTAATATATAATATATATGTAATATATAATATATATTATATATGTAATA TATATTATATATGTAATATAT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(438): Show GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0176 a0002c0018t0001g0176	1	344	0.0029	445	c.85- others(462): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AGGGGGAA others(438): Show AGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGATGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19085.hp2 NA19003.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0246 a0002c0002t0001g0247	2	344	0.0058	445	c.85- others(462): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCATCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(438): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCCGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCA TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0340 a0004c0020t0001g0340	1	348	0.0029	445	c.13 others(456): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCCGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(438): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCA CCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATC TGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCA TCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG01943.hp1 others(21): Show HG00544.hp1 HG00621.hp2 HG01943.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp2 HG03139.hp1 HG03942.hp1 NA18747.hp1 NA18940.hp2 NA18944.hp2 NA18945.hp2 NA18966.hp1 NA19064.hp1 NA19084.hp2 NA19085.hp1 NA20905.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0003 a0007c0022 a0001c0002 a0002c0003 a0007c0022	a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0011 a0002c0003t0004 a0007c0022t0004	a0001c0002t0002g0204 a0001c0002t0004g0037 a0001c0002t0004g0038 others(21): Show a0001c0002t0002g0204 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0039 a0001c0002t0004g0117 a0001c0002t0004g0118 a0001c0002t0004g0132 a0001c0002t0004g0133 a0001c0002t0004g0134 a0001c0002t0004g0150 a0001c0002t0004g0169 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0237 a0001c0002t0004g0266 a0001c0002t0004g0271 a0001c0002t0004g0326 a0001c0002t0004g0327 a0001c0002t0011g0200 a0002c0003t0004g0306 a0007c0022t0004g0288	24	348	0.0690	445	c.13 others(456): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGT CCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCC ATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCAT CCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCC ACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(438): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CACCACCCTGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0063 a0001c0001t0011g0063	1	324	0.0031	445	c.101 others(462): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCACCACCCTGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCC	CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(438): Show CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCCCACCCGCACC CGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0056 a0020c0056	a0020c0056t0002 a0020c0056t0002	a0020c0056t0002g0126 a0020c0056t0002g0126	1	320	0.0031	445	c.39 others(456): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGG GTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGG GTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGT GGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGG GGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(438): Show CCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCCCACC CGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCC CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0054 a0005c0054	a0005c0054t0002 a0005c0054t0002	a0005c0054t0002g0160 a0005c0054t0002g0160	1	320	0.0031	445	c.39 others(456): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGG GTGAGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGT GCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGC GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGG GTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGT GGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DIP2C_chr10_269201_694668	322805	C C	CGGGGCTC others(438): Show CGGGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGGCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGC GGGGCTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG GGGCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGGCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGG GGCTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGG GCTCCAGCGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG GCTCCAGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGG CTCCGGCGAGAGGCCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	88	0.0114	445	c.392 others(464): Show c.3924+4200_3924+4201insCGCACCCCCGACTGACTGTTCTAACA ACGCCGGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAA CACTGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAA CGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAAC GCCGGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACA CTGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAACG CCGGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGCCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACACT GGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACTGTTCTAACAACGCC GGTCTCTCGCTGGAGCCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(438): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTT GTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	384	0.0026	445	c.215 others(462): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGG CGCGAGCACTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(438): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTT GTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0060 a0003c0004t0001g0060	1	384	0.0026	445	c.215 others(462): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA TGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGG CGCGAGCACTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(438): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTT GTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18997.hp1 NA18967.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0133 a0001c0003t0001g0319 a0001c0001t0001g0133 a0001c0003t0001g0319	2	384	0.0052	445	c.215 others(462): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGG CGCGAGCACTGCTGGGA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAT others(438): Show CCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAA TCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTT GTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19012.hp2 NA18964.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0104 a0001c0001t0013g0113 a0001c0001t0001g0104 a0001c0001t0013g0113	2	384	0.0052	445	c.215 others(462): Show c.2155-357_2155-356insCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCAC TGCTGGGATGCTGTGTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
GABRA3_chrX_152161234_152456315	152182722	G G	GTATAGTG others(438): Show GTATAGTGTATATATACACTATATATACACTATATATGTATAGTATATAT ACACTATATATAGTATATATACACTATATATATAGTATATATACACTATA TATATAGTATATATACACTATATATATAGTATATATACACTATATATATA GTATATATACACTATATATATAGTATATATACACTATATATACACTATAT ATGTATATATATACATATATAGTGTATATATAGTGTATATATACACTGTA TATGTATATATAGTGTATATATACACTATATATACACTGTATATGTATAT ATAGTGTATATATACATATACACTGTATATGTATATATAGTGTATATATA CACTATACACTGTATATGTATATATAGTGTATATATACACTATACACTGT ATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA20905.hp1 HG00099.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0197 a0001c0001t0001g0182 a0001c0001t0001g0197	2	204	0.0098	445	c.114 others(464): Show c.1143+7007_1143+7008insTATACATATACAGTGTATAGTGTATA TATACACTATATATACATATACAGTGTATAGTGTATATATACACTATATA TACATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTG TATATGTATATATACACTATATATACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATACACTATATATACACT ATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATA TAGTGTATATATACTATATATATAGTGTATATATACTATATATATAGTGT ATATATACTATATATAGTGTATATATACTATACATATATAGTGTATATAT AGTGTATATATACACTATA	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(438): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTGTATATAC ACTATATATATAGTATATATACACTATATATATAGTATATATACATATAT AGTGTATATATAGTGTATATATACACTGTATATGTATATATAGTGTATAT ATACACTATATATACACTGTATATGTATATATAGTGTATATATACACTAT ACACTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGT ATATATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTAT ATATACACTATACACTGTATATGTATATATAGTGTATATATACACTATAT ATACACTATATAGTGTATATATAGTATATATATACTGTATATATAT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18988.hp1 NA18939.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0034 a0001c0001t0002g0041	2	204	0.0098	445	c.114 others(464): Show c.1143+6991_1143+6992insATATATATACAGTATATATATACTAT ATATACACTATATAGTGTATATATAGTGTATATATACACTATATATACAT ATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTATAG TGTATATATACACTATATATACATATACAGTGTATAGTGTATATATACAC TATATATACATATACAGTGTATAGTGTATATATACACTATATATACATAT ACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTGTAT ATATACACTATATATACACTATATATGTATATATACTATATATATAGTGT ATATATACTATATATATAGTGTATATACACTATATATATAGTGTATATAC ACTATATATATAGTGTATATATACTATATATAGTGTATATATACTATACA TATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GALNT9_chr12_132191372_132334589	132244483	C C	CGGGGGCG others(438): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACG GGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGG GGCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGG GGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGG GCGTGGTGATGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGG GGGCGTGGTGATGGGGCTGGACGGGTGCGTGGTGATGGGGCTGGACGGGT GCGTGGTGATGGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGG GGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGG CGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGGCTGGACGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	183	0.0055	445	c.107 others(464): Show c.1077+3426_1077+3427insCCGTCCAGCCCCCATCACCACGCCCC CATCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCG TCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCG TCCAGCCCCCATCACCACGCACCCGTCCAGCCCCATCACCACGCACCCGT CCAGCCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCC GTCCAGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGT CCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCGT CCAGCCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCATC CAGCCCCATCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCA GCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GMEB2_chr20_63582605_63632101	63607675	C C	CCTCACCT others(438): Show CCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCCACCTCCATTTCT AGAAACATGCCCCTCTGACCCACCTCCATTTCTAGAAACATGCCCCTCTG ACCCACACCTCCATTTCTAGAAACATGCCCCTGACCCCACACCTCCATTT CTAGAAACATGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTC TGACCCCACACATCCATTTCTAGAAACATGTCCCTCTGACTCACCTCCAT TTCTAGAAACGTGCCACTCTGACCCCACACATCCATTTCTAGAAACATGC CCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCCACACA TCCATTTCTAGAAACATGTCCCTCTGACTCACCTCCATTTCTAGAAACAT GCCACTCTGACCCCACACATCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0089 a0001c0004t0004g0089	1	330	0.0030	445	c.132 others(462): Show c.132-2836_132-2835insTCAGAGGGGCATGTTTCTAGAAATGGAT GTGTGGGGTCAGAGTGGCATGTTTCTAGAAATGGAGGTGAGTCAGAGGGA CATGTTTCTAGAAATGGATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAA TGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGTGGGGTCAG AGTGGCACGTTTCTAGAAATGGAGGTGAGTCAGAGGGACATGTTTCTAGA AATGGATGTGTGGGGTCAGAGGGGCATGTTTCTGGAAATGGAGGTGGGTC AGAGGGGCATGTTTCTAGAAATGGAGGTGTGGGGTCAGGGGCATGTTTCT AGAAATGGAGGTGTGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGG TCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCACAGGGGCATGTTT CTAGAAATGGAGGTGAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GPBP1_chr5_57169059_57269673	57249849	C C	CCCCTCCC others(438): Show CCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCTCCTTCCCCCT CCCCTCCTTCCCCCTCCCCTCCTTCCCCTCCCCTCCTTCCCCCTCCCCTC CTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCT CCCCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCC TCCTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTC CCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCC CCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCC CCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCC CCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCCCTTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	290	0.0035	445	c.972 others(460): Show c.972+275_972+276insCTCCCCTCCTTCCCCCTCCCCTCCTTCCCC CTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCTCCCC TCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTCCACCTCCCCTTCCC CCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTCACCTTCCCCTCATT CCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCCTCCTCCTTCCCCAT CCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCCCTCCCCCTTCCCCT CCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTTCCCTGTCCCCCTCC TTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCCTTCCCCCTCCCCTC CTTCCCCCTTCCCCCCCCCTCCTTCCCCCTTCCCCCTTCCCTCCTTCCCC CTTCCCCTCCCCTCC	GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GPIHBP1_chr8_143208218_143222170	143218179	A A	AACACCAC others(438): Show AACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCA ACACCACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACAC CACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCA ACACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	106	0.0094	445	c.26 others(456): Show c.2661_*2662insACACCACCCCAACACCACCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACAC CACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACC CCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAA CACCATCCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCC CCCAACACCACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCA ACACCACCCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1010		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAA others(438): Show ATATATAAATATATATATTTATATTTATTTATATATATATAAATATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATATAAATATATATATTTATATAT ATATATTTTATACATATAAATATATATTATAAATATATATTTATACATAT AAATATATATTATAAATATATATATTTATATTTATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATTTATTTCTATATATAAATATA TATATTTATATATATAAATATATATTTATATATATAAATATATATATTTA TATTTATAAATATATATATTTATATATATTTATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02976.hp1 others(1): Show HG02486.hp1 HG02559.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0025 a0001c0002t0011 a0001c0002t0025	a0001c0002t0011g0052 a0001c0002t0011g0053 a0001c0002t0011g0054 others(1): Show a0001c0002t0011g0052 a0001c0002t0011g0053 a0001c0002t0011g0054 a0001c0002t0025g0051	4	208	0.0192	445	c.-97 others(462): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTATATA TATATAAATATATATATTTATATATATATAAATAAATATAAATATATATA TTTATATGTATATATATAAATATATATATTTATATATATATATATAAATA TATATATTTATATATATATATTTTATACATATAAATATATATTATAAATA TATATTTATACATATAAATATATATTATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATAAATATATATATTTATATTTATTT CTATATATAAATATATATATTTATATATATAAATATATATTTATATATAT AAATATATATATTTATATTTATAAATATATATATTTATATATATTTATAT TTATATATATTTATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(438): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTATATATATATATTTTATACATATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATATATTTATATATA TAAATATATATATTTATATTTATTTATATATATATAAATATATATATTTA TATATAAATATATATATTTATATTTATTTCTATATATAAATATATATATT TATATATAAATATATATTTATATATAAATATATATATTTATATTTATAAA TATATATATTTATATATATTTATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	208	0.0048	445	c.-97 others(462): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTATATATATATATTTTATACATATAAATA TATATTATAAATATATATTTATACATATAAATATATATTATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTTATATATATTTATA TATATAAATATATATATTTATATTTATTTATATATATATAAATATATATA TTTATATATAAATATATATATTTATATTTATTTCTATATATAAATATATA TATTTATATATAAATATATATTTATATATAAATATATATATTTATATTTA TAAATATATATATTTATATATATTTATATTTATATATATTTATATATATT TATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCCCCCT others(438): Show TCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCCTCCCCCCCCTCCTCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCTCCCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCCCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0060 a0001c0037t0060	a0001c0037t0060g0114 a0001c0037t0060g0114	1	290	0.0035	445	c.427 others(462): Show c.427-1053_427-1052insCCCCTCCTCCTCCCCCCTCCCACTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCCTCCTC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCTCCC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCC CCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCC TCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CTCCTCCTCCTCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HTR5A_chr7_155065324_155092392	155088917	C C	CAGGTTGA others(438): Show CAGGTTGAGATTGAATAGAAAAGAATGAACAAGTCATGATGTAGACCTCT GAGGGTAGGAGACCATAGTTCCAGGCTTTCTGGCACAGTCCCCATTTCAA ATATTCTCCTCTGTGGTCCTAGTACATATATCCTAATACCGATGGGGTAT GACCCAAGAGTTGACCACAAAACACTGTCTCCAAATATATTAAAGTATAT AGTCCTATCCATGAGAGCAGGGAATCTTAGCTTTAAGGTTTTGTTTGTGG CAACCACACACGAACATACACACACACACACACACAACTATGAAAGAGGC AGGTGTTCTAGCTAGCTAGTTTACTCCAAAATGCAATCCGTTGACATGAA ACAGGCACTGAGGGTAACTACTTCCTTTCATTTTGAAGCAACAGTTTATA AACAGGAAAGTCTACTGGTTTCATAGAATCTGTCAGATTTGCTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00597.hp2 others(50): Show HG00280.hp1 HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02155.hp1 HG02559.hp2 HG02698.hp1 HG02738.hp1 HG03239.hp1 HG04184.hp2 NA18939.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18964.hp1 NA18983.hp1 NA18988.hp2 NA18990.hp2 NA19005.hp2 NA19007.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19072.hp1 NA19086.hp1 NA19086.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0017 a0001c0001t0027 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0027 a0001c0001t0036 a0001c0001t0042 a0001c0001t0046 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0017g0003 a0001c0001t0027g0003 a0001c0001t0036g0019 a0001c0001t0042g0110 a0001c0001t0046g0003 a0002c0003t0001g0003	53	430	0.1233	445	c.44 others(456): Show c.4430_*4431insAGGTTGAGATTGAATAGAAAAGAATGAACAAGTC ATGATGTAGACCTCTGAGGGTAGGAGACCATAGTTCCAGGCTTTCTGGCA CAGTCCCCATTTCAAATATTCTCCTCTGTGGTCCTAGTACATATATCCTA ATACCGATGGGGTATGACCCAAGAGTTGACCACAAAACACTGTCTCCAAA TATATTAAAGTATATAGTCCTATCCATGAGAGCAGGGAATCTTAGCTTTA AGGTTTTGTTTGTGGCAACCACACACGAACATACACACACACACACACAC AACTATGAAAGAGGCAGGTGTTCTAGCTAGCTAGTTTACTCCAAAATGCA ATCCGTTGACATGAAACAGGCACTGAGGGTAACTACTTCCTTTCATTTTG AAGCAACAGTTTATAAACAGGAAAGTCTACTGGTTTCATAGAATCTGTCA GATTTGCTTAT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding		1526		chr7	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(438): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATATTATATTATATATAATATATTTTATATAA TATATATTATATATTATATTATATATAATATATTTTATATAATATATAAT ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	314	0.0032	445	c.661 others(462): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATAATATATATTATATAAAATATATTATATATAATATAATAT ATATTATATAAAATATATTATATATAATATAATATATATTATATATTATA TAAAATATATTATATATAATATAATATATATTATATATTATATAAAATAT ATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(438): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACACATACCACACACACACCACA CATACCACACACACACCACACACACAACCACACACACCACACCATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0169 a0001c0046t0169	a0001c0046t0169g0300 a0001c0046t0169g0300	1	300	0.0033	445	c.203 others(462): Show c.2030-441_2030-440insTATGGTGTGGTGTGTGTGGTTGTGTGTG TGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGT ATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGTGT GTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTTTGTGG TGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGT GTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCC GTTGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTA GTATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAG GTGTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGT GGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
JMJD1C_chr10_63162225_63470977	63234660	T T	TGGTGGTT others(438): Show TGGTGGTTCACGCTTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGTGA AACGCTGAGCCCAGAGTTTGAGACCAGCCTGGGCAACATGGCGAGACCCT GTTTCTACAAGAAATACAAAAATTAGGCAGGTGTTATGGTGCATGCCTGT AGTCCCAGCTACTTGAGAGGCTGAAGTGGGAGGATTGCTTGAGCATGGGA GGTAGAGGCTGCAGTGAGCCACGATCGCACCACTGCACTCCAGCCTCATC AACAGAGAGAAACCTCCTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAACACCAAAAACAAAAACCTTCCCTATCCTATAAAAAAAAACCTT TTAATATGTTAATACTTAAATTTTTAGATTTGCTAAAAATATCGTTAAAG GCCTATAAAAAGAACGAGTTATTTAATGCAATATTAAGCTGGGCAC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18971.hp1 NA18975.hp1 others(2): Show NA18957.hp2 NA18971.hp1 NA18975.hp1 NA19005.hp2 NA19054.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0179 a0003c0003t0001g0180 others(2): Show a0003c0003t0001g0172 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0003c0003t0001g0185	5	310	0.0161	445	c.448 others(464): Show c.448-14678_448-14677insGTGCCCAGCTTAATATTGCATTAAAT AACTCGTTCTTTTTATAGGCCTTTAACGATATTTTTAGCAAATCTAAAAA TTTAAGTATTAACATATTAAAAGGTTTTTTTTTATAGGATAGGGAAGGTT TTTGTTTTTGGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA AGAGGAGGTTTCTCTCTGTTGATGAGGCTGGAGTGCAGTGGTGCGATCGT GGCTCACTGCAGCCTCTACCTCCCATGCTCAAGCAATCCTCCCACTTCAG CCTCTCAAGTAGCTGGGACTACAGGCATGCACCATAACACCTGCCTAATT TTTGTATTTCTTGTAGAAACAGGGTCTCGCCATGTTGCCCAGGCTGGTCT CAAACTCTGGGCTCAGCGTTTCACCTGCCTCAGCCTCCCAAAGTGCTAGG ATTACAAGCGTGAACCACC	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(438): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01515.hp2 HG01978.hp1 others(7): Show HG00280.hp2 HG01515.hp2 HG01978.hp1 HG02280.hp1 HG02683.hp2 HG03239.hp1 NA18966.hp2 NA19067.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0160 a0001c0003t0001g0036 a0001c0003t0001g0120 others(7): Show a0001c0001t0001g0160 a0001c0003t0001g0036 a0001c0003t0001g0120 a0001c0003t0001g0122 a0001c0003t0001g0135 a0001c0003t0001g0149 a0001c0003t0001g0151 a0001c0003t0001g0155 a0001c0003t0001g0156 a0001c0003t0001g0180	10	312	0.0321	445	c.-41 others(460): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCC CACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCC CCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar

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