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
ASAP1_chr8_130047104_130448674	130049921	G G	GGAACACA others(182): Show GGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAACACA TGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGGAA CACATGGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0032 a0002c0003t0001g0032	1	199	0.0050	189	c.48 others(200): Show c.4809_*4810insTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCC CATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCCATGTATT CCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2182		chr8	TogoVar
ASCC1_chr10_72091032_72221276	72198311	G G	GGAGGGGG others(182): Show GGAGGGGGGAAGGAGATGGGGGAGGGCAGACGGGAGGGGGGACGGGGAGG GAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGGAGGGGAGGGGGAGGG GAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAGGGGACGGGGAGGG GAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	147	0.0068	189	c.311 others(206): Show c.311-1323_311-1322insACCCTCCCCCTCCCCTCCCATCTCCCCT CCCCTCCCCCTCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCCTCCCCTCCTCTT CCCTCCCCCTTCCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTC CTTCCCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(182): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATAATCTATGTTATATATAATATAGATTATATATAT AATATAGATTATATATATAATCTATATTATATATAATATAGATTATATAA TCTATATTATATATATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	143	0.0070	189	c.37 others(200): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATAATCTATGTTATATATAAT ATAGATTATATATATAATATAGATTATATATATAATCTATATTATATATA ATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAAT ATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(182): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT AATCTATATTATATATATAATCTATATTATATATAATATAGATTATATAA TCTATATTATATATATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	143	0.0070	189	c.37 others(200): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATATTATATA TAATATAGATTATATAATCTATATTATATATATAATCTATATTATATATA ATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAAT ATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATF1_chr12_50759101_50826162	50823520	T T	TTTATATA others(182): Show TTTATATATTATATATATAATCTATATTATATATAATATAGATTATATAT ATAATATAGATTATATATATAATCTATATTATATATAATATAGATTATAT ATATAATATAGATTATATAATCTATATTATATATAATATAGATTATATAA TCTATATTATATATATAATCTATATTATATATAATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	143	0.0070	189	c.37 others(200): Show c.3741_*3742insTTATATATTATATATATAATCTATATTATATATA ATATAGATTATATATATAATATAGATTATATATATAATCTATATTATATA TAATATAGATTATATATATAATATAGATTATATAATCTATATTATATATA ATATAGATTATATAATCTATATTATATATATAATCTATATTATATATAAT ATAGA	ATF1	ENSG00000123268.9	transcript	ENST00000262053.8	protein_coding		2359		chr12	TogoVar
ATOH8_chr2_85748991_85796383	85767580	T T	TCCTTCCC others(182): Show TCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCCCCACTCCC CTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTTCCTCCCTCCCTCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp2 HG02559.hp1 HG03453.hp2	a0002 a0003 a0002 a0003	a0002c0004 a0003c0003 a0002c0004 a0003c0003	a0002c0004t0011 a0003c0003t0016 a0002c0004t0011 a0003c0003t0016	a0002c0004t0011g0271 a0003c0003t0016g0098 a0002c0004t0011g0271 a0003c0003t0016g0098	2	93	0.0215	189	c.960 others(206): Show c.960+3406_960+3407insCCCCTGCCCTCCCCTCACTTCCTCCCTC CCTCCCCACTCCCCTCCCCTCTCCTTCCCTCCCCTGCCCTCCCCTCACTT CCTCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCTCCCCTCCCC TCCCCTTCCCT	ATOH8	ENSG00000168874.13	transcript	ENST00000306279.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11B_chr3_182788504_182926629	182841814	T T	TAAAAATA others(182): Show TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02109.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0266 a0001c0002t0009g0267 a0001c0002t0009g0266 a0001c0002t0009g0267	2	322	0.0062	189	c.657 others(204): Show c.657-261_657-260insAAAAATACAAAAAATTAGCCGGGCGTGGTA GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAA	ATP11B	ENSG00000058063.16	transcript	ENST00000323116.10	protein_coding	7/29			chr3	TogoVar
B4GALNT3_chr12_454939_568509	545902	T T	TGAGAGGA others(182): Show TGAGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAG GTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGG AGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0190 a0001c0001t0087g0190	1	41	0.0244	189	c.639 others(204): Show c.639+436_639+437insAGGAGTGGGGAGGTGAGAGGAGTGGGGAGG TGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGATGAGAGGAGTGGGGAG GTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGA GGTGAGAGGAGTGGGGAGGTGCGAGGAGTGGGGAGGTGAGAGGAGTGGGG AGGTGCGAG	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374748	A A	AAGGGAGG others(182): Show AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	178	0.0056	189	c.784 others(204): Show c.784-612_784-611insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(182): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02148.hp1 HG02630.hp2 others(5): Show HG00438.hp2 HG02148.hp1 HG02630.hp2 HG02735.hp1 HG03490.hp1 HG04228.hp1 NA18988.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0257 others(5): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0264 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0303 a0001c0001t0002g0306	8	177	0.0452	189	c.431 others(206): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(182): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	170	0.0059	189	c.431 others(206): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(182): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCTCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03654.hp1 HG02015.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0287 a0001c0001t0002g0278 a0001c0001t0002g0287	2	171	0.0117	189	c.431 others(206): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCTCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(182): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTG CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01433.hp1 HG02809.hp2 others(7): Show HG00639.hp1 HG01433.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(7): Show a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0003t0001g0124 a0001c0003t0001g0125	10	172	0.0581	189	c.431 others(206): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTGCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCGT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(182): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19009.hp2 NA18981.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0258 a0001c0001t0002g0243 a0001c0001t0002g0258	2	164	0.0122	189	c.431 others(206): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(182): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18985.hp2 NA19057.hp2 others(1): Show NA18970.hp1 NA18985.hp2 NA19057.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 others(1): Show a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0285	4	166	0.0241	189	c.431 others(206): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C12orf56_chr12_64259762_64395758	64366356	T T	TATACAGT others(182): Show TATACAGTTTATATATATTATATATAACATACAGTTTATATATATTATAT ATAACATACAGTTTATATATATTATATATAACATACAGTTTATATATATT ATATATAACATACAGTTTATATATATTATATATAACATACAGTTTATATA TATTATATATAACATACAGTTTATATATATTATATATAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	109	0.0092	189	c.253 others(208): Show c.253-13489_253-13301dupGTTATATATAATATATATAAACTGTA TGTTATATATAATATATATAAACTGTATGTTATATATAATATATATAAAC TGTATGTTATATATAATATATATAAACTGTATGTTATATATAATATATAT AAACTGTATGTTATATATAATATATATAAACTGTATGTTATATATAATAT ATATAAACTGTAT	C12orf56	ENSG00000185306.13	transcript	ENST00000543942.7	protein_coding	1/12			chr12	TogoVar
C18orf63_chr18_74310839_74364189	74361916	A A	ATACATAA others(182): Show ATACATAATATAATTAATATTATATATGCATATATTATATAATTTATAAT ATATGCATATATTATATAATTTATAATATATGCATATATTATATAATTTA TAATATATGCATATATTATATAATTTATAATATATGCATATATTATATAA TTTATAATATATGCATATATTATATAATTTATAATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG04115.hp1 HG03669.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0154 a0001c0001t0015g0155 a0001c0001t0015g0154 a0001c0001t0015g0155	2	368	0.0054	189	c.54 others(200): Show c.5469_*5470insTACATAATATAATTAATATTATATATGCATATAT TATATAATTTATAATATATGCATATATTATATAATTTATAATATATGCAT ATATTATATAATTTATAATATATGCATATATTATATAATTTATAATATAT GCATATATTATATAATTTATAATATATGCATATATTATATAATTTATAAT ATATG	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2728		chr18	TogoVar
C20orf96_chr20_265863_295750	278930	C C	CGGAGGGA others(182): Show CGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGGACGGAGGGAGGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAG GGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	322	0.0031	189	c.465 others(204): Show c.465+241_465+242insCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCC CTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCTCCGTCCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145637	A A	ATATTATA others(182): Show ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TTATATAATTTATTATATTATATAATGATATATAATTTATTATATTATAT AATGATATATAATTTATTATATTATATAATGATATATAATTTATTATATT ATATAATGATATATAATTTATTATATAATGATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	327	0.0031	189	c.39 others(200): Show c.3902_*3903insAATTATATATCATTATATAATAAATTATATATCA TTATATAATATAATAAATTATATATCATTATATAATATAATAAATTATAT ATCATTATATAATATAATAAATTATATATCATTATATAATATAATAAATT ATATAATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3368		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145637	A A	ATATTATA others(182): Show ATATTATATAATGATATATTATATAATTTATTATATTATATAATGATATA TTATATAATTTATTATATTATATAATGATATATAATTTATTATATTATAT AATGATATATAATTTATTATATTATATAATGATATATAATTTATTATATT ATATAATGATATATAATTTATTATATAATGATATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01928.hp2 HG01934.hp1 others(1): Show HG01074.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0062 a0002c0002t0001g0002 a0002c0002t0001g0062	4	330	0.0121	189	c.39 others(200): Show c.3902_*3903insAATTATATATCATTATATAATAAATTATATATCA TTATATAATATAATAAATTATATATCATTATATAATATAATAAATTATAT ATCATTATATAATATAATAAATTATATATCATTATATAATATAATAAATT ATATAATATATCATTATATAATATAATAAATTATATAATATATCATTATA TAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3368		chr22	TogoVar
C4orf50_chr4_5954375_6023431	6004143	A A	ATGATGGT others(182): Show ATGATGGTGATGATGGTGATGATGGTGATGGTGATTATGGTGATGATGGG ATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGATA GTGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTG ATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02922.hp1 HG03471.hp1 others(1): Show HG02257.hp2 HG02922.hp1 HG03471.hp1 HG03486.hp1	a0001 a0022 a0036 a0001 a0022 a0036	a0001c0001 a0022c0022 a0036c0039 a0001c0001 a0022c0022 a0036c0039	a0001c0001t0001 a0022c0022t0001 a0036c0039t0001 a0001c0001t0001 a0022c0022t0001 a0036c0039t0001	a0001c0001t0001g0158 a0001c0001t0001g0281 a0022c0022t0001g0068 others(1): Show a0001c0001t0001g0158 a0001c0001t0001g0281 a0022c0022t0001g0068 a0036c0039t0001g0157	4	344	0.0116	189	c.963 others(206): Show c.963+3852_963+3853insCCATCATCACCATCACCATCATCACCAT CATCACCATCATCACTATCATCACCATCACATCATCACCATCACCATCAT CACCATCATCACTATCATCGCCATCACATCATCACCATCACCACCATCAT CAACATCACCATCCCATCATCACCATAATCACCATCACCATCATCACCAT CATCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C8orf82_chr8_144520733_144534111	144531734	G G	GGGGAGTG others(182): Show GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGA GCAGCAGGTGGGGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCTGGGAAGCAGCAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	396	0.0025	189	c.-28 others(200): Show c.-2819_-2818insACCTGCTGCTTCCCAGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCCCCACC TGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2624		chr8	TogoVar
CA10_chr17_51625320_52163714	51831667	A A	AAGCAGCA others(182): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	37	0.0270	189	c.280 others(208): Show c.280-83850_280-83849insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCT	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(182): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTT CTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCT CTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0047 a0004c0047	a0004c0047t0001 a0004c0047t0001	a0004c0047t0001g0178 a0004c0047t0001g0178	1	90	0.0111	189	c.573 others(208): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(182): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTCTTTCTTTCTTT CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCC TCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0013 a0013	a0013c0115 a0013c0115	a0013c0115t0001 a0013c0115t0001	a0013c0115t0001g0068 a0013c0115t0001g0068	1	90	0.0111	189	c.573 others(208): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAAAGAGAGAGAGA GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921634	T T	TCCCCAGG others(182): Show TCCCCAGGTCTGGTATTGGTGGAGTTTTCCCCAGGTCTGGTATTGGTGGA GTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTG GTGGAGTTGCCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	358	0.0028	189	c.424 others(206): Show c.424+6142_424+6143insATTGGTGGAGTTTTCCCCAGGTCTGGTA TTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCT GGTCATTGGTGGAGTTGCCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAG GTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCC CCAGGTCTGGT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12694197	T T	TTATGCAT others(182): Show TTATGCATAATATATATTATATATTATATAATATATATTATGCATAATAT ATATTATATATTATATATTATATAAAATATATATTATGCATAATATATAT TATATATTATATAATATATAATATATATTATATATAATATAAAATATATA TTATGTATAATATATAATATATATTATATATAATATAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02897.hp1 HG02809.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0088 a0001c0002t0065 a0001c0001t0088 a0001c0002t0065	a0001c0001t0088g0087 a0001c0002t0065g0140 a0001c0001t0088g0087 a0001c0002t0065g0140	2	108	0.0185	189	c.299 others(208): Show c.299+27390_299+27391insGCATAATATATATTATATATTATATA ATATATATTATGCATAATATATATTATATATTATATATTATATAAAATAT ATATTATGCATAATATATATTATATATTATATAATATATAATATATATTA TATATAATATAAAATATATATTATGTATAATATATAATATATATTATATA TAATATAAAATAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK4_chr5_111219384_111499886	111450625	T T	TAAAAATA others(182): Show TAAAAATACAAACAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02615.hp1 HG02897.hp1 others(1): Show HG00735.hp1 HG02615.hp1 HG02897.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0045 others(1): Show a0001c0001t0013 a0001c0001t0017 a0001c0001t0045 a0001c0001t0077	a0001c0001t0013g0156 a0001c0001t0017g0184 a0001c0001t0045g0167 others(1): Show a0001c0001t0013g0156 a0001c0001t0017g0184 a0001c0001t0045g0167 a0001c0001t0077g0201	4	153	0.0261	189	c.625 others(206): Show c.625+1428_625+1429insACAAACAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(182): Show CCTCCCCCACGTCGCCTCCCCCCACGTCGTCGTCTCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0020 a0002c0015t0001g0020	1	291	0.0034	189	c.-22 others(206): Show c.-22-2075_-22-2074insCACGTCGTCGTCTCCCCCACGTCGCCTC CCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACG TCGCCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD11_chr7_2901142_3048867	2909401	A A	ACCCCTCC others(182): Show ACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCTCCGCCCCTCGCCCCTC CGCCCCCACCCCTCCGCCCCTCACCCCTGCGCCCCTCACCCTCCGCCCCC CACCCCTCCGCCCCCCACCCCTCCGCCCCCACCCTCCGCCTCTCATCCCT CCGCCCCTCGCCCCTCCGCCCCCACCCCTCCGCCCCTCAC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0111 a0001c0004t0001g0111	1	244	0.0041	189	c.326 others(206): Show c.3260+648_3260+649insGTGAGGGGCGGAGGGGTGGGGGCGGAGG GGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGGGGGCGGAGGGGTGGGG GGCGGAGGGGTGGGGGGCGGAGGGTGAGGGGCGCAGGGGTGAGGGGCGGA GGGGTGGGGGCGGAGGGGCGAGGGGCGGAGGGATGAGAGGCGGAGGGTGG GGGCGGAGGGG	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	24/24			chr7	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGGG others(182): Show AAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAG GAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	282	0.0035	189	c.234 others(206): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761497	G G	GGGAAGGG others(182): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGA AGGAGAAGGAGAAGGAGAGGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	47	0.0213	189	c.234 others(206): Show c.234+6810_234+6811insTCTTCTTCTTCTTCTTCTTCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCCTCTCCT TCTCCTTCTCCTTCTTCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCC CTTCCCCTTCC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(182): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18986.hp2 HG02083.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0218 a0001c0001t0001g0053 a0001c0001t0001g0218	2	188	0.0106	189	c.380 others(206): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	G G	GCACGCCT others(182): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTC TGCACGCCTCTGCACACGTCACGTGCCTCTATACGCCTCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp1 others(2): Show HG01257.hp1 HG01258.hp1 HG01361.hp1 HG02109.hp2 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0025 a0001c0001t0001 a0001c0001t0010 a0001c0001t0025	a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0001g0203 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0001g0203 a0001c0001t0010g0170 a0001c0001t0025g0098	5	30	0.1667	189	c.152 others(208): Show c.152-31785_152-31597dupTGAGGCGTATAGAGGCACGTGACGTG TGCAGAGGCGTGCAGACGTGTGGCACTGTGAGGCGTGTGAGGCGTATAGA GGCACGTGACGTGTGCAGAGGCGTGCAGACGTGTGGCACTGTGAGGCGTG TGAGGCGTATAGAGGCACGTGACGTGTGCAGAGGCGTGCAGACGTGTGGC ACTGTGAGGCGTG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC30_chr1_42458286_42662190	42546393	A A	ATATATAT others(182): Show ATATATATATATGTATATGTATATATATACACGTATATATATATGTATAT ATATACACGTATATATATATGTATATATATACACGTATATATATATGTAT ATATATACACGTATATATATATGTATATATATACACGTATATATATATGT ATATATATACACGTATATATATATGTATATATATACACGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0037 a0002c0003t0003g0037	1	284	0.0035	189	c.890 others(204): Show c.890+814_890+815insTATATATATATGTATATGTATATATATACA CGTATATATATATGTATATATATACACGTATATATATATGTATATATATA CACGTATATATATATGTATATATATACACGTATATATATATGTATATATA TACACGTATATATATATGTATATATATACACGTATATATATATGTATATA TATACACGT	CCDC30	ENSG00000186409.19	transcript	ENST00000657597.2	protein_coding	9/20			chr1	TogoVar
CCDC38_chr12_95862048_95947614	95908636	A A	AGAGGGAG others(182): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0270 a0001c0002t0002g0270	1	52	0.0192	189	c.305 others(206): Show c.305-2186_305-2185insCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTC	CCDC38	ENSG00000165972.13	transcript	ENST00000344280.8	protein_coding	4/15			chr12	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	18	0.0556	189	c.-22 others(200): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	18	0.0556	189	c.-22 others(200): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 NA18970.hp2 NA19010.hp2 HG02040.hp2 NA18970.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0156 a0001c0001t0003g0007 a0001c0001t0001g0156 a0001c0001t0003g0007	3	20	0.1500	189	c.-22 others(200): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18962.hp2 NA18986.hp1 HG03942.hp1 NA18962.hp2 NA18986.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0043 a0002c0002t0001g0126 a0002c0002t0001g0005 a0002c0002t0001g0043 a0002c0002t0001g0126	3	20	0.1500	189	c.-22 others(200): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(182): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCC TCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02080.hp1 HG03579.hp2 HG01109.hp2 HG02080.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0031 a0001c0001t0003g0164 a0001c0001t0003g0007 a0001c0001t0003g0031 a0001c0001t0003g0164	3	20	0.1500	189	c.-22 others(200): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC63_chr12_110841987_110912535	110905901	T T	TAATATAT others(182): Show TAATATATATTATATTATATATAATATATATTATATATAATATATATTTT ATAAAATATATATTATATTATATATAATATATATTATATAAAATATATAT TATATATAATATATATTATATAAAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG03710.hp2 HG01516.hp1 HG01517.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0053 a0001c0001t0001g0143 a0001c0001t0001g0144	3	278	0.0108	189	c.154 others(208): Show c.1546+1146_1546+1147insTAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATATAATATATATTATATAAAATATATA TTATATTATATAATATATATTATATAAAATATATATTATATTATATATAA TATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC16_chr13_114229897_114277723	114252075	T T	TTACACTA others(182): Show TTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAAG AGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGA TAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGT TGGATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0024 a0001c0002t0009g0024	2	362	0.0055	189	c.109 others(208): Show c.1097+1562_1097+1563insCTACACTAGCCCTGTTGGATAAGAGC CCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGGATAA GAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTGTTGG ATAAGAGCCCTACACTAGCCCTGTTGGATAAGAGCCCTACACTAGCCCTG TTGGATAAGAGCC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
CDHR2_chr5_176544342_176600824	176591689	A A	ATGATGGT others(182): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGT GGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp2 others(60): Show HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG01106.hp1 HG01168.hp1 HG01192.hp1 HG01256.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02132.hp1 HG02293.hp1 HG02683.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp2 NA18969.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp1 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0025 a0003c0002 a0003c0012 others(4): Show a0001c0025 a0003c0002 a0003c0012 a0003c0032 a0003c0033 a0003c0037 a0003c0045	a0001c0025t0001 a0003c0002t0001 a0003c0012t0001 others(4): Show a0001c0025t0001 a0003c0002t0001 a0003c0012t0001 a0003c0032t0001 a0003c0033t0001 a0003c0037t0001 a0003c0045t0001	a0001c0025t0001g0204 a0003c0002t0001g0005 a0003c0002t0001g0024 others(57): Show a0001c0025t0001g0204 a0003c0002t0001g0005 a0003c0002t0001g0024 a0003c0002t0001g0157 a0003c0002t0001g0176 a0003c0002t0001g0177 a0003c0002t0001g0178 a0003c0002t0001g0179 a0003c0002t0001g0180 a0003c0002t0001g0181 a0003c0002t0001g0182 a0003c0002t0001g0183 a0003c0002t0001g0185 a0003c0002t0001g0187 a0003c0002t0001g0189 a0003c0002t0001g0190 a0003c0002t0001g0193 a0003c0002t0001g0194 a0003c0002t0001g0195 a0003c0002t0001g0196 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0001g0203 a0003c0002t0001g0206 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0218 a0003c0002t0001g0221 a0003c0002t0001g0226 a0003c0002t0001g0227 a0003c0002t0001g0228 a0003c0002t0001g0229 a0003c0002t0001g0231 a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0234 a0003c0002t0001g0235 a0003c0002t0001g0236 a0003c0002t0001g0237 a0003c0002t0001g0238 a0003c0002t0001g0239 a0003c0002t0001g0240 a0003c0002t0001g0242 a0003c0002t0001g0243 a0003c0002t0001g0245 a0003c0002t0001g0251 a0003c0002t0001g0255 a0003c0002t0001g0284 a0003c0012t0001g0072 a0003c0012t0001g0088 a0003c0012t0001g0089 a0003c0012t0001g0270 a0003c0032t0001g0115 a0003c0032t0001g0116 a0003c0033t0001g0071 a0003c0033t0001g0106 a0003c0037t0001g0200 a0003c0045t0001g0046	63	287	0.2195	189	c.373 others(206): Show c.3734+278_3734+279insTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGTGGTGGTGG TGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGG TGATGATGGTG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	650979	G G	GGACTGTG others(182): Show GGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGA GGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	87	0.0115	189	c.177 others(208): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP46_chr10_132803392_132947570	132888609	T T	TCACCCCT others(182): Show TCACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCCCTGCCGCCTGCACCCCTGCCGCCTGCACCTGCCACC TTCACCCCTGCCGCCTGCACCCCTGCCACCTTCACCCCTGCCGCCTGCAC CTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGCCTG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0244 a0009c0021t0001g0244	1	185	0.0054	189	c.330 others(208): Show c.3305-2651_3305-2650insCAGGCGGCAGGGGTGAAGGCGGCAGG GGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAG GCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGCAGGCGGCAG GGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCA GGCGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHCHD6_chr3_126699240_126965420	126865068	T T	TCCACCAC others(182): Show TCCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACCACCTCCACTTC TTCCTCCTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCT CCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCTCCACCACCACC TCCTTTTCCACCACCTCCACTTCTTCCTCCTCCTCCTCCA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	121	0.0083	189	c.495 others(208): Show c.495+12406_495+12407insTCCACCACCACCTCCACTTCTTCCTC CTCCTCCTCCACCACCACCTCCACTTCTTCCTCCTCCTCCTCCTCCACCA CCACCTCCTTTTCCACCACCTCCACTTCTTCCTCCTCCTCCTCCACCACC ACCTCCACTTCTTCCTCCTCCTCCTCCACCACCACCTCCACTTCTTCCTC CTCCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHID1_chr11_862859_915810	881647	T T	TGAGGGAA others(182): Show TGAGGGAAAGGACCACGTCGGGCGGTAGGCTGGGTGGTGAGGGAAAGGAC CACGTCGGGGCGGTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGGGGCG GTAGGCTGGGTGGTGAGGGAAAGGACCACGTCGGGCGGTAGGCTGGGTGG TGAGGGAAAGGACCACGTCGGGCGGTAGGCTGGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	384	0.0026	189	c.959 others(206): Show c.959+1500_959+1501insTCACCACCCAGCCTACCGCCCGACGTGG TCCTTTCCCTCACCACCCAGCCTACCGCCCGACGTGGTCCTTTCCCTCAC CACCCAGCCTACCGCCCCGACGTGGTCCTTTCCCTCACCACCCAGCCTAC CGCCCCGACGTGGTCCTTTCCCTCACCACCCAGCCTACCGCCCGACGTGG TCCTTTCCCTC	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding	10/12			chr11	TogoVar
CHRNA7_chr15_32025515_32178018	32154878	C C	CACCTCAC others(182): Show CACCTCACACACACACACACCACTCAGTACTCACACACACCACTCACACC ACTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCAC ACAACACACACACCACTCACAATCACACACACCACTCACACAACCACTCA CATACCACCCACATGACTCAACACACACACCACTCACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(234): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0002c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(56): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0026 a0001c0002t0028 a0001c0002t0033 a0001c0002t0047 a0001c0002t0048 a0001c0003t0001 a0001c0003t0014 a0001c0003t0018 a0001c0003t0022 a0001c0004t0003 a0001c0004t0005 a0001c0004t0008 a0001c0004t0010 a0001c0004t0023 a0001c0004t0036 a0001c0004t0043 a0001c0004t0050 a0001c0005t0004 a0001c0005t0007 a0001c0005t0032 a0001c0006t0002 a0001c0006t0005 a0001c0006t0006 a0001c0006t0010 a0001c0006t0034 a0001c0007t0008 a0001c0007t0011 a0001c0007t0020 a0001c0008t0019 a0001c0009t0001 a0001c0011t0027 a0001c0011t0046 a0001c0012t0001 a0001c0014t0001 a0002c0013t0002	a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0053 others(232): Show a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0093 a0001c0001t0001g0130 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0001g0301 a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0090 a0001c0001t0003g0132 a0001c0001t0003g0265 a0001c0001t0008g0158 a0001c0001t0010g0154 a0001c0001t0012g0012 a0001c0001t0012g0240 a0001c0001t0012g0290 a0001c0001t0012g0292 a0001c0001t0012g0294 a0001c0001t0013g0109 a0001c0001t0013g0121 a0001c0001t0013g0199 a0001c0001t0014g0106 a0001c0001t0016g0087 a0001c0001t0016g0157 a0001c0001t0016g0201 a0001c0001t0016g0202 a0001c0001t0018g0045 a0001c0001t0018g0251 a0001c0001t0021g0005 a0001c0001t0021g0275 a0001c0001t0021g0282 a0001c0001t0024g0163 a0001c0001t0024g0164 a0001c0001t0024g0228 a0001c0001t0029g0205 a0001c0001t0029g0212 a0001c0001t0030g0256 a0001c0001t0041g0279 a0001c0001t0042g0184 a0001c0001t0044g0293 a0001c0001t0049g0081 a0001c0001t0051g0082 a0001c0001t0052g0077 a0001c0001t0053g0080 a0001c0002t0001g0021 a0001c0002t0002g0016 a0001c0002t0002g0024 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0061 a0001c0002t0002g0064 a0001c0002t0002g0092 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0116 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0144 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0155 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0180 a0001c0002t0002g0182 a0001c0002t0002g0186 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0235 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0255 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0274 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0005g0151 a0001c0002t0005g0160 a0001c0002t0005g0172 a0001c0002t0005g0178 a0001c0002t0005g0250 a0001c0002t0006g0011 a0001c0002t0006g0017 a0001c0002t0006g0028 a0001c0002t0006g0127 a0001c0002t0006g0143 a0001c0002t0006g0159 a0001c0002t0006g0179 a0001c0002t0006g0226 a0001c0002t0006g0268 a0001c0002t0026g0035 a0001c0002t0026g0036 a0001c0002t0028g0224 a0001c0002t0028g0263 a0001c0002t0033g0295 a0001c0002t0047g0218 a0001c0002t0048g0076 a0001c0003t0001g0008 a0001c0003t0001g0013 a0001c0003t0001g0022 a0001c0003t0001g0034 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0072 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0099 a0001c0003t0001g0108 a0001c0003t0001g0140 a0001c0003t0001g0145 a0001c0003t0001g0156 a0001c0003t0001g0161 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0225 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0239 a0001c0003t0001g0243 a0001c0003t0001g0248 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0260 a0001c0003t0001g0264 a0001c0003t0001g0266 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0014g0033 a0001c0003t0014g0101 a0001c0003t0014g0103 a0001c0003t0014g0300 a0001c0003t0018g0025 a0001c0003t0022g0162 a0001c0003t0022g0252 a0001c0003t0022g0273 a0001c0004t0003g0006 a0001c0004t0003g0091 a0001c0004t0003g0117 a0001c0004t0003g0126 a0001c0004t0003g0134 a0001c0004t0003g0245 a0001c0004t0003g0254 a0001c0004t0003g0272 a0001c0004t0003g0276 a0001c0004t0005g0009 a0001c0004t0008g0209 a0001c0004t0010g0003 a0001c0004t0010g0189 a0001c0004t0023g0095 a0001c0004t0023g0098 a0001c0004t0023g0253 a0001c0004t0036g0194 a0001c0004t0043g0175 a0001c0004t0050g0078 a0001c0005t0004g0002 a0001c0005t0004g0037 a0001c0005t0004g0048 a0001c0005t0004g0049 a0001c0005t0004g0051 a0001c0005t0004g0054 a0001c0005t0004g0057 a0001c0005t0004g0058 a0001c0005t0004g0060 a0001c0005t0004g0062 a0001c0005t0004g0075 a0001c0005t0004g0147 a0001c0005t0004g0206 a0001c0005t0004g0303 a0001c0005t0007g0002 a0001c0005t0007g0050 a0001c0005t0007g0055 a0001c0005t0007g0059 a0001c0005t0007g0065 a0001c0005t0007g0066 a0001c0005t0007g0067 a0001c0005t0007g0068 a0001c0005t0007g0069 a0001c0005t0032g0056 a0001c0005t0032g0177 a0001c0006t0002g0150 a0001c0006t0002g0166 a0001c0006t0002g0169 a0001c0006t0002g0187 a0001c0006t0002g0220 a0001c0006t0002g0286 a0001c0006t0005g0185 a0001c0006t0006g0277 a0001c0006t0010g0113 a0001c0006t0010g0122 a0001c0006t0034g0246 a0001c0007t0008g0214 a0001c0007t0011g0070 a0001c0007t0011g0071 a0001c0007t0011g0073 a0001c0007t0011g0074 a0001c0007t0011g0170 a0001c0007t0020g0040 a0001c0007t0020g0124 a0001c0007t0020g0188 a0001c0008t0019g0171 a0001c0008t0019g0197 a0001c0008t0019g0200 a0001c0009t0001g0128 a0001c0009t0001g0233 a0001c0009t0001g0234 a0001c0011t0027g0208 a0001c0011t0027g0210 a0001c0011t0046g0120 a0001c0012t0001g0129 a0001c0012t0001g0138 a0001c0014t0001g0291 a0002c0013t0002g0046 a0002c0013t0002g0213	237	240	0.9875	189	c.430 others(204): Show c.430+893_430+894insCCTCACACACACACACACCACTCAGTACTC ACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACCA CCCACACACACTGTTCACACAACACACACACCACTCACAATCACACACAC CACTCACACAACCACTCACATACCACCCACATGACTCAACACACACACCA CTCACACAA	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHRNA7_chr15_32025515_32178018	32154879	A A	ACCTCACA others(182): Show ACCTCACACACACACACACCACTCAGTACTCACACACACCACTCACACCA CTCACACTACTCACACCACTCATACACACCACCCACACACACTGTTCACA CAACACACACACCACTCACAATCACACACACCACTCACACAACCACTCAC ATACCACCCACATGACTCAACACACACACCACTCACACAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	304	0.0033	189	c.430 others(204): Show c.430+893_430+894insCCTCACACACACACACACCACTCAGTACTC ACACACACCACTCACACCACTCACACTACTCACACCACTCATACACACCA CCCACACACACTGTTCACACAACACACACACCACTCACAATCACACACAC CACTCACACAACCACTCACATACCACCCACATGACTCAACACACACACCA CTCACACAG	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	5/9			chr15	TogoVar

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