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
CXorf51B_chrX_146804771_146815411	146812368	C C	CATGTGTA others(289): Show CATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTGTA TATGTGTGTGTATATACATATATGTGTATATACGTATATACACATATATG TGTACATATATGTGTGTATATGTGTGTATATACATATATGTGTATATACA TATATACACATATATATGTGTGTATATGTGTGTGTATATACATATATGTG TATATACGTATATACACATATATGTGTGTATATATGTGTATATATATACA TATATACACATGTGTATATATGTGTATATATATACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA19064.hp1 NA18977.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	49	0.0408	296	c.20 others(307): Show c.2060_*2061insATGTGTATATACGTATATACACATATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACGT ATATACACATATATGTGTACATATATGTGTGTATATGTGTGTATATACAT ATATGTGTATATACATATATACACATATATATGTGTGTATATGTGTGTGT ATATACATATATGTGTATATACGTATATACACATATATGTGTGTATATAT GTGTATATATATACATATATACACATGTGTATATATGTGTATATATATAC ATATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1958		chrX	TogoVar
DECR2_chr16_396885_417482	397703	G G	GGGGGTGT others(289): Show GGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	324	0.0031	296	c.-42 others(307): Show c.-4261_-4260insGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGGTG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGT	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4181		chr16	TogoVar
DGAT1_chr8_144309584_144331852	144313788	G G	GCGCCGCC others(289): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCCTCC CCGCGCCGCCTCCCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCG CGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCC CGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTC CCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	26	0.0385	296	c.27 others(307): Show c.2765_*2766insAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAG GCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGGGAGGCGGCGCGGG GAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCG GGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCG CGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGGCGCGGGGAGGCGG GGAGGCGGCGCGGGGAGGCGGGGAGGCGGCGCGGCGCGGGGAGGCGGCGC GGGGAGGCGGCG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		795		chr8	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(289): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGG CGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0080 a0001c0001t0021g0080	1	114	0.0088	296	c.74 others(307): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DGKE_chr17_56829151_56874567	56870208	T T	TAAGAAAT others(289): Show TAAGAAATGATTTGACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGCG GGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACGCGGTGAA ACCCCGCCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGC GCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG02080.hp2 others(18): Show HG00544.hp2 HG00558.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02300.hp2 HG02523.hp2 HG03098.hp1 HG03139.hp2 HG03540.hp2 HG03654.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 NA18954.hp1 NA18963.hp2 NA18981.hp1 NA18981.hp2 NA19010.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0004t0001 a0002c0005t0007	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0008g0086 a0001c0001t0008g0110 a0001c0001t0012g0038 a0001c0001t0021g0079 a0001c0004t0001g0004 a0002c0005t0007g0016	21	134	0.1567	296	c.74 others(307): Show c.7417_*7418insAAGAAATGATTTGACGCCTGTAATCCCAGCACTT TGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAA	DGKE	ENSG00000153933.10	transcript	ENST00000284061.8	protein_coding		642		chr17	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CACCCCCA others(289): Show CACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCCACCCCCACCCCC ACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCC TCACCCGCACCCTCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCC ACCCTCACCCCCACCCCCACCCCTCACCCCCACCCCCACCCCCACCCTCA CCCCCACCCCCACCCCCCACCCTCACCCTCACCCTCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0063 a0006c0063	a0006c0063t0003 a0006c0063t0003	a0006c0063t0003g0198 a0006c0063t0003g0198	1	253	0.0040	296	c.39 others(307): Show c.3984_*3985insCGGGTGCGGGTGAGGGTGAGGGTGAGGGTGGGGG GTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTGAGGGGTGGGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTG AGGGTGCGGGTGAGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGG TGGGGGTGCCGGTGGGGGTGGGGGTGGGGGGTGGGGGTGGGGGTGAGGGT GGGGGTGGGGGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(289): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCCTCCCACAGCCGG ATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCAGAT CCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0054 a0001c0006t0002g0054	1	65	0.0154	296	c.86- others(313): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTG TGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCCGTCCTCG GATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTG GGAGGGGTGGGTGGGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLG2_chr11_83450173_85632344	83949412	T T	TAAGAATT others(289): Show TAAGAATTGTTGCTCCTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	13	0.0769	296	c.134 others(317): Show c.1340+13472_1340+13473insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGAGGAGCAACAATTCTT	DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	14/27			chr11	TogoVar
DNAH12_chr3_57288700_57549344	57390432	T T	TATATATA others(289): Show TATATATATATATATATACACATACATATACATATATACACATACATATA CATATATACACATACATATACATATATACACATACATATATATATACATA TATATACATATATATATACGTATATATATATACGTGTATATATATACACG TATATATATATACGTGTGTATATATACACATATATATATACACATATATA TATATACACATATATATATACACATATATATATATACACATATATATATA TACACATATATATATACACACATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0247 a0007c0007t0001g0247	1	238	0.0042	296	c.730 others(315): Show c.7305+1439_7305+1440insGTATATATATATATATATATATATAT GTGTGTATATATATATGTGTATATATATATATGTGTATATATATATATGT GTATATATATATGTGTATATATATATATGTGTATATATATATGTGTATAT ATACACACGTATATATATATACGTGTATATATATACACGTATATATATAT ACGTATATATATATGTATATATATGTATATATATATGTATGTGTATATAT GTATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTAT GTGTATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390450	T T	TACACATA others(289): Show TACACATACATATACATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATATATATACATATATATACATATATATA TACGTATATATATATACGTGTATATATATACACGTATATATATATACGTG TGTATATATACACATATATATATACACATATATATATATACACATATATA TATACACATATATATATATACACATATATATATATACACATATATATATA CACACATATATATATATATATATATATACATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0068 a0004c0004t0001g0068	1	153	0.0065	296	c.730 others(315): Show c.7305+1421_7305+1422insGTATATATATATATATATGTATATAT ATATATATATATATATGTGTGTATATATATATGTGTATATATATATATGT GTATATATATATATGTGTATATATATATGTGTATATATATATATGTGTAT ATATATATGTGTATATATACACACGTATATATATATACGTGTATATATAT ACACGTATATATATATACGTATATATATATGTATATATATGTATATATAT ATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGT ATATATGTATATGTATGTGT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH8_chr6_38710311_39035792	38964350	G G	GGACGGGG others(289): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGACGGCTGGCCGGGCAGG GGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0001 a0004c0017t0001	a0004c0017t0001g0059 a0004c0017t0001g0059	1	2	0.5000	296	c.124 others(317): Show c.12452-7241_12452-7240insACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGACGGCTGGCCGGGCAGGGGGCCGACCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	82/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNM2_chr19_10713079_10836903	10758343	T T	TTCCCTCC others(289): Show TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	255	0.0039	296	c.162 others(313): Show c.162-1392_162-1391insCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC CTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTT CCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCC TTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTT CCCTCCTTCCCTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOK7_chr4_3458306_3499482	3490110	C C	CCATTCAT others(289): Show CCATTCATTCCTTTCTTCACCCCTTCATTCCTTTTCTCCCTGCTCATTCA TTCCTTCCTTCTTCCTCCTACTCATTAATTCCTTCCTCCCCCCATTCCTT TCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCATTCATTCCTTTTCT CCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAATTCCTTCCT CCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCTC ATTCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0250 a0006c0006t0002g0250	1	234	0.0043	296	c.772 others(311): Show c.772+327_772+328insCTTCACCCCTTCATTCCTTTTCTCCCTGCT CATTCATTCCTTCCTTCTTCCTCCTACTCATTAATTCCTTCCTCCCCCCA TTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCCCCATTCATTCC TTTTCTCCCTGCTCATTCATTCCTTCCTTCTTCCTCCTACTCATTAATTC CTTCCTCCCCCCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCAC CCCCTCATTCATTCCTTTCTTCACCCCCTCATTCATTCCTTTCTTCACCC CCTCATTCATTCCTTT	DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
DPEP1_chr16_89608642_89643433	89619557	T T	TCCCCTCC others(289): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	203	0.0049	296	c.-10 others(315): Show c.-107+5842_-107+5843insTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DTD1_chr20_18583054_18771644	18655467	T T	TAAAACTT others(289): Show TAAAACTTTGTATTATATTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0154 a0001c0003t0001g0154	1	394	0.0025	296	c.477 others(315): Show c.477+27250_477+27251insTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAACTTTGTATTATA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATGTGTAA others(289): Show ATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT GTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATGTGTAAATATACCTATGTGTGTGTTTACAC ATATATATGTGTAAATATACCTATGTGTGTGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	272	0.0037	296	c.477 others(315): Show c.477+47592_477+47593insGTAAATATACCTATGTGTATATTTAC ACATATATATGTAAATATACCTATGTGTATGTTTACACATATATATGTGT AAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTACACAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATAT ACCTATGTGTGTGTTTACACATATATATGTGTAAATATACCTATGTGTGT GTTTACACATATATATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENG_chr9_127810016_127859658	127834835	T T	TAGGTTGG others(289): Show TAGGTTGGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	318	0.0031	296	c.220 others(313): Show c.220-5009_220-5008insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAACCAACCT	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(289): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	376	0.0027	296	c.83+ others(309): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC2_chr6_480154_698139	519266	G G	GAACCAAC others(289): Show GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00673.hp1 HG02132.hp1 others(2): Show HG00609.hp2 HG00673.hp1 HG02132.hp1 NA18954.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0135 others(2): Show a0001c0001t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0003t0001g0222	5	259	0.0193	296	c.238 others(317): Show c.2380+13202_2380+13203insTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAG TGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTGT AGGCGCTCGGTGGGTGTTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261873	G G	GTGACCCT others(289): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	277	0.0036	296	c.571 others(313): Show c.571+4684_571+4685insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(289): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	270	0.0037	296	c.571 others(313): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6262095	G G	GTGACCCT others(289): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0069 a0003c0003t0004g0069	1	234	0.0043	296	c.571 others(313): Show c.571+4462_571+4463insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FAM174B_chr15_92612448_92660775	92631047	A A	ATATATTA others(289): Show ATATATTACGTATTACGTATTACATATTACATATTATATATTACGTATTA CGTATTACATATTACATATTATATATTACGTATTACGTATTACATATTAT ATATTATATATTACGTATTACGTATTACATATTATATTATATATTACGTA TTACGTATTACATATTATATTATATATTACGTATTACGTATTACATATTA TATTATATATTACGTATTACGTATTACATATTATATTATATATTACGTAT TACGTATTACATATTATATTATATATTACGTATTACGTATTACATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	384	0.0026	296	c.345 others(311): Show c.345-703_345-702insATATGTAATACGTAATACGTAATATATAAT ATAATATGTAATACGTAATACGTAATATATAATATAATATGTAATACGTA ATACGTAATATATAATATAATATGTAATACGTAATACGTAATATATAATA TAATATGTAATACGTAATACGTAATATATAATATAATATGTAATACGTAA TACGTAATATATAATATATAATATGTAATACGTAATACGTAATATATAAT ATGTAATATGTAATACGTAATACGTAATATATAATATGTAATATGTAATA CGTAATACGTAATATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM8A1_chr6_17595302_17616715	17596493	C C	CAAAAGAG others(289): Show CAAAAGAGTTGACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03516.hp1 HG02486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0015 a0001c0001t0011g0031 a0001c0001t0006g0015 a0001c0001t0011g0031	2	366	0.0055	296	c.-39 others(307): Show c.-3917_-3916insAAAAGAGTTGACCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAA	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding		3808		chr6	TogoVar
FARP2_chr2_241351285_241499841	241355590	A A	AGACCTAG others(289): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACT CCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG01167.hp2 others(20): Show HG00423.hp2 HG00544.hp2 HG01167.hp2 HG01358.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG02027.hp2 HG02080.hp1 HG02135.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18952.hp1 NA18971.hp2 NA19010.hp1 NA19012.hp1 NA19070.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(20): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230	23	144	0.1597	296	c.-82 others(305): Show c.-823_-822insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACT CCCCGCCCAG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		694		chr2	TogoVar
FARP2_chr2_241351285_241499841	241355796	G G	GCCGACTC others(289): Show GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGC CCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCC CCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGC CGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCC AGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCC GCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	352	0.0028	296	c.-61 others(305): Show c.-617_-616insCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGA GCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGC CCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCC CCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGC CGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCC AGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCC GCCCAGCGAA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		488		chr2	TogoVar
FAT1_chr4_186582794_186728856	186626293	A A	AGAATGAA others(289): Show AGAATGAATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGGCAC ATAAAGTGAGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATG AGGGACCAACATGGCAACTGGCACATAAAGCGAGCTTCATCAGCCCACAG AATGAATGAATGAATGAATGAGGGACCAACATGGCACCTGACACATAAAG TGAGCTTCACCAGCCCACAGAATGAATGAATGAATGAATGAATGAGGGAC CAACATGGCACCTGGCACATAAAGTGAGCTTCACCAGCCCACAGAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp1 HG02886.hp1 HG03471.hp1	a0077 a0087 a0077 a0087	a0077c0077 a0087c0157 a0077c0077 a0087c0157	a0077c0077t0044 a0087c0157t0045 a0077c0077t0044 a0087c0157t0045	a0077c0077t0044g0020 a0087c0157t0045g0022 a0077c0077t0044g0020 a0087c0157t0045g0022	2	336	0.0060	296	c.481 others(315): Show c.4810+1860_4810+1861insATTCTGTGGGCTGGTGAAGCTCACTT TATGTGCCAGGTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCAT TCTGTGGGCTGGTGAAGCTCACTTTATGTGTCAGGTGCCATGTTGGTCCC TCATTCATTCATTCATTCATTCTGTGGGCTGATGAAGCTCGCTTTATGTG CCAGTTGCCATGTTGGTCCCTCATTCATTCATTCATTCATTCATTCTGTG GGCTGGTGAAGCTCACTTTATGTGCCAGGTGCCATGTTGGTCCCTCATTC ATTCATTCATTCATTCATTC	FAT1	ENSG00000083857.15	transcript	ENST00000441802.7	protein_coding	9/26			chr4	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(289): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCACATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0031 a0001c0009t0006g0031	1	202	0.0050	296	c.-22 others(307): Show c.-2234_-2233insTGATATATATGATATATATGATATATATGATATA TATGATATATATGATATATGATATATATAATATATGATATATATGATATA TGTGATATATGATATATATGATATATGTGATATATGTGATATATGATATA TGTGATATATGTGATATATGATATATGTGATATATGTGATATATGATATA TGTGATATGTGATAATGATATGATATATATGATATGATATATATGATAGA TCATATATGATCTCATATATATGATATATATGATATAATATATGATCTAT CATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FCHO2_chr5_72951041_73095522	73037315	C C	CAAAAGTA others(289): Show CAAAAGTATATGTGTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG02809.hp2 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0008 a0001c0003 a0004c0008	a0001c0003t0003 a0004c0008t0003 a0001c0003t0003 a0004c0008t0003	a0001c0003t0003g0278 a0004c0008t0003g0279 a0001c0003t0003g0278 a0004c0008t0003g0279	2	232	0.0086	296	c.914 others(311): Show c.914+114_914+115insCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAGTATATGTGT	FCHO2	ENSG00000157107.14	transcript	ENST00000430046.7	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHAD1_chr1_15242223_15403328	15314635	G G	GTGGGTGT others(289): Show GTGGGTGTGTGGGAGGGTGTGTGAGGGTGTGGATGTGTGTGGGTATGTGG GGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGTGAGAGGGTGTG TGGGGGTGTATGGGTGTGTAAGCATGGGGGTGTATGGGTGTGAGTATGGG GGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATGTGTGGGTGAGGGT GTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGTGTGTGTGGGTGTG TGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp2 HG02486.hp1 HG03130.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0011 a0002c0003 a0008c0011	a0002c0003t0006 a0008c0011t0019 a0002c0003t0006 a0008c0011t0019	a0002c0003t0006g0158 a0008c0011t0019g0144 a0002c0003t0006g0158 a0008c0011t0019g0144	2	166	0.0120	296	c.117 others(315): Show c.1170+1460_1170+1461insAGGGTGTGTGAGGGTGTGGATGTGTG TGGGTATGTGGGGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGT GAGAGGGTGTGTGGGGGTGTATGGGTGTGTAAGCATGGGGGTGTATGGGT GTGAGTATGGGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATGTG TGGGTGAGGGTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGTGT GTGTGGGTGTGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTGTG GGGGTGTATGGGTGTGTGGG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FHAD1_chr1_15242223_15403328	15314646	G G	GGAGGGTG others(289): Show GGAGGGTGTGTGAGGGTGTGGATGTGTGTGGGTATGTGGGGGGTGTGGGA GTGTGGAGATGTATGAGTGTGGGTGTGTGAGAGGGTGTGTGTGGGGGTGT ATGGGTGTGTAAGCATAGGGGGTGTATGGGTGTGAGTATGGGGGGAGTAT GTATGGGTGTGTGGGGTGTGTGTGGATGTGTGGGTGAGGGTGTTGGGAAG GGTGTGTGGGGTGTGGATATGTGTAGGTGTGTGTGGGTGTGTGTGGATAT GGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTATGGGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00438.hp2 others(155): Show HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0019 a0025 a0028 a0029 a0030 a0035 a0040 a0045 a0046 a0052 a0055 a0060 a0062 a0064 a0065 a0067	a0001c0001 a0001c0002 a0001c0008 others(63): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0001c0015 a0001c0036 a0001c0039 a0001c0092 a0001c0108 a0002c0003 a0002c0007 a0002c0019 a0002c0035 a0002c0053 a0002c0134 a0003c0006 a0003c0009 a0003c0026 a0003c0037 a0003c0056 a0003c0086 a0004c0004 a0004c0038 a0004c0057 a0004c0058 a0005c0005 a0005c0016 a0005c0072 a0006c0014 a0006c0024 a0006c0045 a0007c0012 a0007c0059 a0007c0101 a0008c0011 a0008c0028 a0008c0050 a0008c0071 a0009c0044 a0009c0047 a0009c0122 a0009c0123 a0009c0125 a0009c0132 a0010c0025 a0010c0034 a0010c0099 a0011c0043 a0011c0074 a0012c0097 a0019c0022 a0025c0116 a0028c0100 a0029c0067 a0030c0066 a0035c0048 a0040c0091 a0045c0119 a0046c0089 a0052c0121 a0055c0052 a0060c0133 a0062c0095 a0064c0049 a0065c0088 a0067c0124	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(93): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0009 a0001c0002t0018 a0001c0002t0031 a0001c0002t0044 a0001c0002t0049 a0001c0008t0002 a0001c0008t0008 a0001c0008t0012 a0001c0013t0001 a0001c0015t0001 a0001c0036t0002 a0001c0036t0008 a0001c0039t0001 a0001c0092t0002 a0001c0108t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0007t0003 a0002c0007t0005 a0002c0007t0006 a0002c0019t0004 a0002c0019t0006 a0002c0019t0027 a0002c0035t0006 a0002c0053t0020 a0002c0134t0003 a0003c0006t0002 a0003c0006t0008 a0003c0006t0013 a0003c0009t0001 a0003c0026t0001 a0003c0037t0001 a0003c0056t0001 a0003c0086t0009 a0004c0004t0004 a0004c0004t0005 a0004c0004t0007 a0004c0038t0007 a0004c0057t0005 a0004c0058t0006 a0005c0005t0015 a0005c0016t0028 a0005c0072t0010 a0006c0014t0003 a0006c0014t0005 a0006c0024t0003 a0006c0024t0005 a0006c0045t0003 a0006c0045t0004 a0007c0012t0016 a0007c0059t0014 a0007c0101t0014 a0008c0011t0011 a0008c0011t0017 a0008c0028t0011 a0008c0050t0020 a0008c0071t0017 a0009c0044t0009 a0009c0047t0009 a0009c0047t0059 a0009c0122t0009 a0009c0123t0012 a0009c0125t0012 a0009c0132t0060 a0010c0025t0003 a0010c0034t0006 a0010c0099t0006 a0011c0043t0005 a0011c0074t0011 a0012c0097t0003 a0019c0022t0018 a0025c0116t0052 a0028c0100t0001 a0029c0067t0039 a0030c0066t0040 a0035c0048t0002 a0040c0091t0009 a0045c0119t0009 a0046c0089t0050 a0052c0121t0007 a0055c0052t0004 a0060c0133t0003 a0062c0095t0006 a0064c0049t0005 a0065c0088t0021 a0067c0124t0029	a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0081 others(155): Show a0001c0001t0002g0034 a0001c0001t0002g0041 a0001c0001t0002g0081 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0008g0126 a0001c0001t0008g0129 a0001c0001t0008g0149 a0001c0001t0008g0160 a0001c0001t0008g0175 a0001c0001t0010g0272 a0001c0001t0012g0161 a0001c0001t0013g0072 a0001c0001t0013g0092 a0001c0001t0013g0104 a0001c0001t0014g0053 a0001c0001t0015g0267 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0039 a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0103 a0001c0002t0001g0150 a0001c0002t0001g0188 a0001c0002t0009g0162 a0001c0002t0018g0156 a0001c0002t0031g0088 a0001c0002t0044g0169 a0001c0002t0049g0101 a0001c0008t0002g0095 a0001c0008t0008g0205 a0001c0008t0012g0204 a0001c0013t0001g0046 a0001c0013t0001g0052 a0001c0013t0001g0055 a0001c0015t0001g0109 a0001c0015t0001g0110 a0001c0015t0001g0111 a0001c0036t0002g0057 a0001c0036t0008g0163 a0001c0039t0001g0037 a0001c0039t0001g0038 a0001c0092t0002g0100 a0001c0108t0001g0165 a0002c0003t0003g0133 a0002c0003t0003g0192 a0002c0003t0004g0017 a0002c0003t0004g0045 a0002c0003t0005g0135 a0002c0003t0005g0172 a0002c0003t0006g0065 a0002c0003t0006g0067 a0002c0003t0006g0083 a0002c0003t0006g0089 a0002c0007t0003g0186 a0002c0007t0003g0189 a0002c0007t0005g0210 a0002c0007t0005g0212 a0002c0007t0006g0108 a0002c0007t0006g0115 a0002c0019t0004g0118 a0002c0019t0006g0069 a0002c0019t0027g0244 a0002c0035t0006g0031 a0002c0053t0020g0096 a0002c0134t0003g0209 a0003c0006t0002g0018 a0003c0006t0002g0047 a0003c0006t0002g0090 a0003c0006t0002g0102 a0003c0006t0002g0122 a0003c0006t0008g0134 a0003c0006t0013g0063 a0003c0009t0001g0044 a0003c0009t0001g0078 a0003c0026t0001g0021 a0003c0026t0001g0106 a0003c0037t0001g0054 a0003c0037t0001g0094 a0003c0056t0001g0107 a0003c0086t0009g0142 a0004c0004t0004g0024 a0004c0004t0004g0027 a0004c0004t0004g0029 a0004c0004t0004g0030 a0004c0004t0004g0070 a0004c0004t0004g0073 a0004c0004t0004g0074 a0004c0004t0004g0086 a0004c0004t0004g0116 a0004c0004t0005g0164 a0004c0004t0007g0001 a0004c0004t0007g0002 a0004c0038t0007g0143 a0004c0057t0005g0190 a0004c0058t0006g0183 a0005c0005t0015g0268 a0005c0005t0015g0274 a0005c0005t0015g0286 a0005c0016t0028g0010 a0005c0072t0010g0270 a0006c0014t0003g0214 a0006c0014t0003g0224 a0006c0014t0005g0220 a0006c0024t0003g0226 a0006c0024t0003g0231 a0006c0024t0005g0227 a0006c0045t0003g0225 a0006c0045t0004g0170 a0007c0012t0016g0256 a0007c0059t0014g0167 a0007c0101t0014g0119 a0008c0011t0011g0277 a0008c0011t0017g0264 a0008c0028t0011g0290 a0008c0050t0020g0114 a0008c0071t0017g0291 a0009c0044t0009g0218 a0009c0044t0009g0223 a0009c0047t0009g0221 a0009c0047t0059g0230 a0009c0122t0009g0215 a0009c0123t0012g0228 a0009c0125t0012g0196 a0009c0132t0060g0229 a0010c0025t0003g0211 a0010c0034t0006g0035 a0010c0034t0006g0085 a0010c0099t0006g0087 a0011c0043t0005g0014 a0011c0043t0005g0015 a0011c0074t0011g0262 a0012c0097t0003g0141 a0019c0022t0018g0009 a0025c0116t0052g0199 a0028c0100t0001g0091 a0029c0067t0039g0004 a0030c0066t0040g0003 a0035c0048t0002g0040 a0040c0091t0009g0132 a0045c0119t0009g0257 a0046c0089t0050g0105 a0052c0121t0007g0201 a0055c0052t0004g0120 a0060c0133t0003g0216 a0062c0095t0006g0016 a0064c0049t0005g0236 a0065c0088t0021g0242 a0067c0124t0029g0217	158	286	0.5524	296	c.117 others(315): Show c.1170+1460_1170+1461insAGGGTGTGTGAGGGTGTGGATGTGTG TGGGTATGTGGGGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGT GAGAGGGTGTGTGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATG GGTGTGAGTATGGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATG TGTGGGTGAGGGTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGT GTGTGTGGGTGTGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTG TGGGGGTGTATGGGTGTGTG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(289): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18975.hp1 HG01346.hp2 NA18975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0297 a0001c0003t0001g0302 a0001c0003t0001g0297 a0001c0003t0001g0302	2	261	0.0077	296	c.189 others(315): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCA CCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG CCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FNDC8_chr17_35116615_35135732	35133653	C C	CCCAGACC others(289): Show CCCAGACCATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTC GTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00609.hp2 others(34): Show HG00423.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG02040.hp1 HG02129.hp2 HG02165.hp2 HG03710.hp1 NA18612.hp1 NA18940.hp2 NA18947.hp2 NA18950.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19012.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19075.hp1 NA19079.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0025 a0001c0002t0002g0005 a0001c0002t0002g0015 others(6): Show a0001c0001t0002g0025 a0001c0002t0002g0005 a0001c0002t0002g0015 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0066 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0105	37	414	0.0894	296	c.32 others(307): Show c.3219_*3220insCCAGACCATTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTG	FNDC8	ENSG00000073598.6	transcript	ENST00000158009.6	protein_coding		2922		chr17	TogoVar
FRK_chr6_115926149_116065891	115985917	T T	TAGAATGC others(289): Show TAGAATGCTGAGTGCTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	183	0.0055	296	c.467 others(315): Show c.467-17179_467-17178insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAA GTGCAAGCACTCAGCATTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
FRMPD4_chrX_12133473_12729523	12331835	A A	AATTTATA others(289): Show AATTTATATACTATATATAAATTATATAATTTATATACTATATATAAATT ATATAATTTATATACTATATATAAATTATATAATTTATATACTATATATA AATTATATAATTTATATACTATATATAAATTATATAATTTATATACTATA TATAAATTATATAATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAATTATATAATTTATATACTATATATAAATTATATAATTTAT ATACTATATATAAATTATATAATTTATATACTATATATAAATTATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0037 a0002c0011t0001g0037	1	159	0.0063	296	c.42- others(315): Show c.42-166845_42-166844insATTTATATACTATATATAAATTATAT AATTTATATACTATATATAAATTATATAATTTATATACTATATATAAATT ATATAATTTATATACTATATATAAATTATATAATTTATATACTATATATA AATTATATAATTTATATACTATATATAAATTATATAATTTATATACTATA TATAAATTATATAATTTATATACTATATATAAATTATATAATTTATATAC TATATATAAATTATATAATTTATATACTATATATAAATTATATAATTTAT ATACTATATATAAATTATAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(289): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCCACCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCT CACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCG CACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00741.hp1 others(11): Show HG00280.hp2 HG00438.hp2 HG00741.hp1 HG01106.hp2 HG02735.hp2 HG03831.hp1 HG06807.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA19007.hp1 NA19060.hp1 NA19079.hp2 NA20752.hp2	a0001 a0020 a0024 a0001 a0020 a0024	a0001c0004 a0001c0047 a0020c0045 others(1): Show a0001c0004 a0001c0047 a0020c0045 a0024c0020	a0001c0004t0001 a0001c0047t0001 a0020c0045t0001 others(1): Show a0001c0004t0001 a0001c0047t0001 a0020c0045t0001 a0024c0020t0001	a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 others(11): Show a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0106 a0001c0047t0001g0096 a0020c0045t0001g0092 a0024c0020t0001g0006	14	345	0.0406	296	c.145 others(313): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGAGCGCAGGTGAGCGGGGTGGGGGGGGTTGCGGGGCAGTGCGGA GCGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	926951	G G	GCACCCCT others(289): Show GCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGG CTCACCAGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCT CACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCG CACTGCCCCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0248 a0001c0005t0002g0248	1	350	0.0029	296	c.145 others(313): Show c.145+5091_145+5092insTGGGGCAGTGCGGAGCGCAGGTGAGCTG GGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGAGCGCTGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(289): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGC TCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCC GCAACCCTCCCCGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGG CTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0374 a0003c0006t0001g0374	1	207	0.0048	296	c.145 others(313): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGAG GGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAG TGCGGAGCGCAGGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGG TGAGCTGGGAGGGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(289): Show CCGCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCTCGCACCCCTCCC CGCTCACCTGCAGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAG TCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCC GCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGG CTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTC CGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	207	0.0048	296	c.145 others(313): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCA GGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAG GGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAG TGGGGACTGCAGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGACCGCAGG TGAGCCGGGAGGGGTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927089	G G	GCACTGCC others(289): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTC ACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCCGCAACCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02965.hp2 others(4): Show HG02818.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp2 HG03516.hp1 NA18906.hp1 NA19043.hp2	a0004 a0017 a0004 a0017	a0004c0009 a0004c0011 a0017c0028 a0004c0009 a0004c0011 a0017c0028	a0004c0009t0001 a0004c0011t0001 a0017c0028t0001 a0004c0009t0001 a0004c0011t0001 a0017c0028t0001	a0004c0009t0001g0378 a0004c0009t0001g0379 a0004c0009t0001g0381 others(4): Show a0004c0009t0001g0378 a0004c0009t0001g0379 a0004c0009t0001g0381 a0004c0011t0001g0382 a0004c0011t0001g0383 a0004c0011t0001g0384 a0017c0028t0001g0380	7	172	0.0407	296	c.145 others(313): Show c.145+4953_145+4954insGGGACTGCAGGTGAGCGGGGAGGGGTGC GAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927089	G G	GCACTGCC others(289): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTC ACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCCCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0005 a0005	a0005c0044 a0005c0044	a0005c0044t0001 a0005c0044t0001	a0005c0044t0001g0102 a0005c0044t0001g0102	1	166	0.0060	296	c.145 others(313): Show c.145+4953_145+4954insGGGACTGCAGGTGAGCGGGGAGGGGTGC GGGGCAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927089	G G	GCACTGCC others(289): Show GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCA CCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCAGCTC ACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGC ACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACC CCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCGGTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG02040.hp2 others(21): Show HG00408.hp1 HG02015.hp2 HG02040.hp2 HG02698.hp1 HG03017.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18986.hp1 NA18992.hp2 NA18995.hp2 NA19000.hp1 NA19066.hp2 NA19070.hp1 NA19091.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0001c0004 a0001c0023 others(2): Show a0001c0001 a0001c0004 a0001c0023 a0001c0046 a0018c0029	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0023t0001 a0001c0046t0001 a0018c0029t0008	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(21): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0004t0001g0016 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0104 a0001c0004t0002g0105 a0001c0023t0001g0068 a0001c0046t0001g0072 a0018c0029t0008g0077	24	189	0.1270	296	c.145 others(313): Show c.145+4953_145+4954insGGGACTGCAGGTGAGCGGGGAGGGGTGC GAGGCAGTGGGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGA CCGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCC GGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGG GGCAGTGCGGAGCGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGG GAGGGGTGCGGGGCAGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(289): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCA GCTCACCTGCCCTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCAGT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	131	0.0076	296	c.145 others(313): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCTGGGAGGGGTGCGGGGCA GTGCGGAGGGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGG GGTGTGGGGCAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(289): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCA GCTCACCTGCCCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0351 a0001c0001t0007g0351	1	131	0.0076	296	c.145 others(313): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTGCGGAGGGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGG GGTGTGGGGCAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927344	G G	GTCCGCAC others(289): Show GTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCC CACACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCT CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0185 a0001c0005t0002g0185	1	366	0.0027	296	c.145 others(313): Show c.145+4698_145+4699insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGA GGGGTGCGGGGCAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCA GTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAG GTGAGCCGGGAGGGGTGTGGGGCAGTGCGGAGGGCAGGTGAGCCGGGAGG GGTGCGGGGCAGTGCGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACAATGT others(289): Show TACAATGTATATATAATTTATATATACATTGTATATATAATTTATATATA CAATGTATATATAATTTATATATACATTGTATATATAAATTATATATACA ATGTATATATAATTTATATATACAATGTATATATAAATTATATATACATT GTATATATAATTTATATATACATTGTATATACAATGTATATATACATTGT ATATACAATGTATATATACATTGTATATACAATGTATATATAAATTGTAT ATACAATGTATATATACATTGTATATACAATGTATATATAAATTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0164 a0001c0001t0029g0164	1	151	0.0066	296	c.976 others(313): Show c.976-2634_976-2633insACAATGTATATATAATTTATATATACAT TGTATATATAATTTATATATACAATGTATATATAATTTATATATACATTG TATATATAAATTATATATACAATGTATATATAATTTATATATACAATGTA TATATAAATTATATATACATTGTATATATAATTTATATATACATTGTATA TACAATGTATATATACATTGTATATACAATGTATATATACATTGTATATA CAATGTATATATAAATTGTATATACAATGTATATATACATTGTATATACA ATGTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(289): Show TACATTGTATATATAATTTATATATACATTGTATATATAATTTATATATA CAATGTATATATAAATTATATATACAATGTATATATAATTTATATATACA ATGTATATATAATTTATATATACAATGTATATATAAATTATATATACATT GTATATACAATTTATATATACATTGTATATACAATGTATATATAAATTGT ATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTAT ATATAATGTATATATAAATTGTATATACAATTTATATATAAATTATA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0149 a0001c0001t0030g0149	1	151	0.0066	296	c.976 others(313): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAT TGTATATATAATTTATATATACAATGTATATATAAATTATATATACAATG TATATATAATTTATATATACAATGTATATATAATTTATATATACAATGTA TATATAAATTATATATACATTGTATATACAATTTATATATACATTGTATA TACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTATATA CAATGTATATATAAATTGTATATATAATGTATATATAAATTGTATATACA ATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298775	T T	TACATTGT others(289): Show TACATTGTATATATAATTTATATATACATTGTATATATAATTTATATATA CATTGTATATATAAATTATATATACAATGTATATATAAATTATATATACA ATGTATATATAATTTATATATACAATGTATATATAAATTATATATACATT GTATATACAATTTATATATACATTGTATATACAATGTATATATAAATTGT ATATACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTAT ATATAATGTATATATAAATTGTATATACAATTTATATATAAATTATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0089 a0001c0001t0031g0089	1	151	0.0066	296	c.976 others(313): Show c.976-2634_976-2633insACATTGTATATATAATTTATATATACAT TGTATATATAATTTATATATACATTGTATATATAAATTATATATACAATG TATATATAAATTATATATACAATGTATATATAATTTATATATACAATGTA TATATAAATTATATATACATTGTATATACAATTTATATATACATTGTATA TACAATGTATATATAAATTGTATATACAATGTATATATAAATTGTATATA CAATGTATATATAAATTGTATATATAATGTATATATAAATTGTATATACA ATTTATATATAAATTATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GARIN2_chr14_67184440_67228940	67193243	T T	TATCTATA others(289): Show TATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGATA TCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAAACATC TATCTATATATCTCTATATAGATATCTATATATCTCTATATAGACATCTA TCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGACATC TATCTATATATCTCTATATAGATATCTATATATCTCTATATAGACATCTA TCTATATATCTCTATATAAACATCTATCTATATATCTCTATATAGAC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	330	0.0030	296	c.-11 others(315): Show c.-114+3721_-114+3722insTATCTATATATCTCTATATAGACATC TATCTATATATCTCTATATAAACATCTATCTATATATCTCTATATAGATA TCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGACATC TATCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAGATA TCTATATATCTCTATATAGACATCTATCTATATATCTCTATATAAACATC TATCTATATATCTCTATATAGACATCTATATATCTCTATATAGACATCTA TCTATATATCTCTATATAGA	GARIN2	ENSG00000172717.17	transcript	ENST00000696955.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
GLDC_chr9_6527467_6650729	6629957	A A	ATAATATA others(289): Show ATAATATATATATGTATATATATATATAATATATATATGTATATATATAT ATACATATATATATGTATATATATATATAATATATATATGTATATATATA TAATATATATGTATATATATATATAATATATATATGTATATATATATATA ATATATATATGTATATATATATAATATATATATGTATATATATATAATAT ATATATGTGTATATATATATAATATATATATGTGTATATATATATATATA TGTGTATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0244 a0001c0005t0004g0244	1	171	0.0058	296	c.335 others(313): Show c.335-9639_335-9638insAAAAAAATATATATATATATATATATAT ATATATATATATATACACATATATATATATATATACACATATATATATTA TATATATATACACATATATATATTATATATATATACATATATATATTATA TATATATACATATATATATTATATATATATATACATATATATATTATATA TATATATACATATATATTATATATATATACATATATATATTATATATATA TATACATATATATATGTATATATATATATACATATATATATTATATATAT ATATACATATATATATTA	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	2/24			chr9	TogoVar

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