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
DPYSL3_chr5_147385808_147515068	147510735	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0256 a0001c0002t0014g0256	1	298	0.0034	24	c.-87 others(33): Show c.-878_-877insTGTGTGTGTGTGTGTGTGTGTGTG	DPYSL3	ENSG00000113657.13	transcript	ENST00000343218.10	protein_coding		668		chr5	TogoVar
DPYSL5_chr2_26843132_26955351	26888255	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTGTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	232	0.0043	24	c.-4- others(41): Show c.-4-10229_-4-10206dupGTCTTTCTTTCTGTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26888255	T T	TTCTTTCT others(17): Show TTCTTTCTTTCTTTCTTTCTTTCTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG03139.hp2 others(1): Show HG01884.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0023 a0001c0002t0002 a0001c0001t0001 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0059 a0001c0001t0023g0021 a0001c0002t0002g0086 others(1): Show a0001c0001t0001g0059 a0001c0001t0023g0021 a0001c0002t0002g0086 a0001c0002t0002g0087	4	232	0.0172	24	c.-4- others(41): Show c.-4-10230_-4-10229insTTCTTTCTTTCTGTCTTTCTTTCT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26892756	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	232	0.0043	24	c.-4- others(39): Show c.-4-5725_-4-5702dupGAGAGAGAGAGAGAGAGAGAGAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(17): Show TATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG02886.hp2 others(1): Show HG00733.hp2 HG01167.hp2 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0047 a0001c0001t0013g0065 a0001c0001t0013g0074 others(1): Show a0001c0001t0013g0047 a0001c0001t0013g0065 a0001c0001t0013g0074 a0001c0001t0013g0075	4	232	0.0172	24	c.669 others(39): Show c.669+382_669+383insTATATATATATATATACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931201	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02738.hp1 HG00642.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0133 a0001c0002t0018g0150 a0001c0002t0002g0133 a0001c0002t0018g0150	2	232	0.0086	24	c.670 others(39): Show c.670-438_670-437insATATATATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931203	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 NA18955.hp1 NA19010.hp2 HG01168.hp2 NA18955.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0082 a0001c0002t0002g0131 a0001c0002t0002g0044 a0001c0002t0002g0082 a0001c0002t0002g0131	3	232	0.0129	24	c.670 others(39): Show c.670-433_670-410dupATATATATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26932093	G G	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	232	0.0043	24	c.714 others(39): Show c.714+414_714+415insAAGAAAGAAAGAAAGGAAAAAAGA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26934937	A A	AAGTATAA others(17): Show AAGTATAAGAGTGAAGAGCACATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	232	0.0043	24	c.947 others(39): Show c.947+206_947+229dupTATAAGAGTGAAGAGCACATATAG	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0035	1	232	0.0043	24	c.947 others(41): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYS_chr8_104374431_104472055	104381852	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	380	0.0026	24	c.144 others(41): Show c.1444-562_1444-539dupTGTGTGTGTGTGTGTGTGTGTGTG	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTGTTTTT others(17): Show GTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	396	0.0025	24	c.132 others(41): Show c.132-2676_132-2675insGTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp2 HG03139.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0108 a0001c0001t0001g0109	2	396	0.0051	24	c.132 others(41): Show c.132-2670_132-2647dupTTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101904426	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	396	0.0025	24	c.342 others(41): Show c.342+2993_342+2994insTTTTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAXIN_chr1_11686710_11730857	11699926	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18999.hp2 HG01934.hp2 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0258 a0003c0004t0001g0257 a0001c0001t0002g0258 a0003c0004t0001g0257	2	398	0.0050	24	c.-10 others(41): Show c.-10-6320_-10-6297dupTAAATAAATAAATAAATAAATAAA	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DRAXIN_chr1_11686710_11730857	11727667	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG01167.hp2 others(7): Show HG01074.hp2 HG01099.hp2 HG01167.hp2 HG01256.hp2 HG01981.hp1 HG02257.hp1 HG02273.hp1 HG03017.hp1 HG03669.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0018 a0001c0003t0004 others(4): Show a0001c0001t0004 a0001c0001t0018 a0001c0003t0004 a0001c0003t0009 a0001c0003t0018 a0002c0002t0004 a0002c0002t0092	a0001c0001t0004g0285 a0001c0001t0018g0211 a0001c0003t0004g0012 others(6): Show a0001c0001t0004g0285 a0001c0001t0018g0211 a0001c0003t0004g0012 a0001c0003t0004g0193 a0001c0003t0009g0012 a0001c0003t0009g0192 a0001c0003t0018g0289 a0002c0002t0004g0006 a0002c0002t0092g0156	10	398	0.0251	24	c.79 others(35): Show c.7971_*7972insGTGTGTGTGTGTGTGTGTGTGTGT	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1811		chr1	TogoVar
DRC1_chr2_26396920_26461711	26414115	C C	CATTATTA others(17): Show CATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	384	0.0026	24	c.156 others(39): Show c.156-222_156-199dupATTATTATTATTATTATTATTATT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0194 a0004c0003t0001g0194	1	384	0.0026	24	c.889 others(39): Show c.889-441_889-440insTATATATATATATATATATATATA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439936	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0193 a0004c0003t0001g0193	1	384	0.0026	24	c.889 others(39): Show c.889-441_889-440insTATATATATATATATATATATACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18010887	C C	CAAGTAGT others(17): Show CAAGTAGTCTGAGATCATTGACTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	324	0.0031	24	c.132 others(43): Show c.1326+3741_1326+3764dupAAGTAGTCTGAGATCATTGACTTT	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRC3_chr17_17967862_18021889	18019147	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG03491.hp2 HG03540.hp1 HG02165.hp2 HG03491.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0153 a0001c0001t0003g0017 a0002c0002t0002g0065 a0001c0001t0001g0153 a0001c0001t0003g0017 a0002c0002t0002g0065	3	324	0.0093	24	c.24 others(35): Show c.2476_*2477insCACACACACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2259		chr17	TogoVar
DRC7_chr16_57689806_57736805	57728720	T T	TTCCAAAT others(17): Show TTCCAAATGACTGAGTTGTTCCTCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0068 a0004c0005t0001g0068	1	388	0.0026	24	c.239 others(41): Show c.2391+139_2391+162dupCAAATGACTGAGTTGTTCCTCCTC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729590	G G	GTGGATGG others(17): Show GTGGATGGATGAGTGGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02109.hp2 others(13): Show HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG03041.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp1 NA19030.hp1 NA19240.hp2	a0004 a0006 a0018 others(1): Show a0004 a0006 a0018 a0019	a0004c0005 a0004c0016 a0006c0008 others(3): Show a0004c0005 a0004c0016 a0006c0008 a0006c0010 a0018c0046 a0019c0031	a0004c0005t0003 a0004c0016t0003 a0006c0008t0003 others(3): Show a0004c0005t0003 a0004c0016t0003 a0006c0008t0003 a0006c0010t0003 a0018c0046t0003 a0019c0031t0003	a0004c0005t0003g0252 a0004c0016t0003g0289 a0006c0008t0003g0015 others(12): Show a0004c0005t0003g0252 a0004c0016t0003g0289 a0006c0008t0003g0015 a0006c0008t0003g0071 a0006c0008t0003g0101 a0006c0008t0003g0104 a0006c0008t0003g0280 a0006c0008t0003g0293 a0006c0010t0003g0015 a0006c0010t0003g0031 a0006c0010t0003g0102 a0006c0010t0003g0207 a0006c0010t0003g0297 a0018c0046t0003g0304 a0019c0031t0003g0084	16	388	0.0412	24	c.239 others(43): Show c.2391+1016_2391+1017insAGTGGGTGGGTGGATGGATGGATG	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57733799	A A	AAATTTTC others(17): Show AAATTTTCTTAGCAGTGGTGATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0021 a0021	a0021c0029 a0021c0029	a0021c0029t0001 a0021c0029t0001	a0021c0029t0001g0106 a0021c0029t0001g0106	1	388	0.0026	24	c.25 others(35): Show c.2541_*2542insAATTTTCTTAGCAGTGGTGATAAC	DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding		1995		chr16	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	418	0.0024	24	c.64+ others(39): Show c.64+2320_64+2321insATATATATATATATATATATTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	418	0.0024	24	c.64+ others(39): Show c.64+2320_64+2321insATATATATATATATATTTTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0062	1	322	0.0031	24	c.39 others(35): Show c.3980_*3981insATATATATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 NA18942.hp1 NA18960.hp2 others(2): Show HG02145.hp2 NA18942.hp1 NA18960.hp2 NA18967.hp1 NA19072.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0003 a0002c0005 others(1): Show a0001c0002 a0001c0003 a0002c0005 a0011c0032	a0001c0002t0001 a0001c0003t0002 a0002c0005t0001 others(1): Show a0001c0002t0001 a0001c0003t0002 a0002c0005t0001 a0011c0032t0001	a0001c0002t0001g0082 a0001c0002t0001g0180 a0001c0003t0002g0055 others(2): Show a0001c0002t0001g0082 a0001c0002t0001g0180 a0001c0003t0002g0055 a0002c0005t0001g0102 a0011c0032t0001g0127	5	322	0.0155	24	c.39 others(35): Show c.3979_*3980insTATATATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG02145.hp2 others(20): Show HG01358.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA18944.hp1 NA18949.hp1 NA18968.hp2 NA19030.hp2 NA19043.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0003 a0001c0007 others(2): Show a0001c0002 a0001c0003 a0001c0007 a0003c0006 a0004c0015	a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0015 a0001c0007t0001 a0003c0006t0003 a0004c0015t0003	a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 others(20): Show a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0165 a0001c0002t0001g0204 a0001c0003t0002g0055 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0080 a0001c0003t0003g0088 a0001c0003t0003g0171 a0001c0003t0003g0172 a0001c0003t0003g0214 a0001c0003t0003g0239 a0001c0003t0015g0086 a0001c0007t0001g0026 a0001c0007t0001g0027 a0001c0007t0001g0028 a0001c0007t0001g0029 a0003c0006t0003g0229 a0003c0006t0003g0230 a0003c0006t0003g0293 a0004c0015t0003g0301	23	322	0.0714	24	c.342 others(41): Show c.3420-541_3420-540insACACACACACACACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01358.hp1 others(7): Show HG00323.hp2 HG00735.hp2 HG01358.hp1 HG01361.hp2 HG01975.hp2 HG02293.hp1 HG04228.hp2 NA19010.hp2 NA19056.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0030 a0002c0004 others(1): Show a0001c0001 a0001c0030 a0002c0004 a0002c0005	a0001c0001t0005 a0001c0030t0006 a0002c0004t0002 others(2): Show a0001c0001t0005 a0001c0030t0006 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001	a0001c0001t0005g0316 a0001c0001t0005g0320 a0001c0030t0006g0309 others(7): Show a0001c0001t0005g0316 a0001c0001t0005g0320 a0001c0030t0006g0309 a0002c0004t0002g0037 a0002c0004t0002g0105 a0002c0004t0002g0109 a0002c0004t0002g0275 a0002c0004t0004g0009 a0002c0005t0001g0111 a0002c0005t0001g0278	10	322	0.0311	24	c.207 others(43): Show c.2071+3352_2071+3375dupTATATATATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSC3_chr18_30984365_31047742	31001089	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02738.hp1 HG02738.hp2 others(5): Show HG01070.hp1 HG02738.hp1 HG02738.hp2 HG04115.hp2 HG04228.hp1 NA18960.hp2 NA18984.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0029 others(3): Show a0001c0001t0011 a0001c0001t0018 a0001c0001t0029 a0001c0001t0031 a0001c0001t0038 a0001c0001t0093	a0001c0001t0011g0099 a0001c0001t0018g0087 a0001c0001t0018g0136 others(5): Show a0001c0001t0011g0099 a0001c0001t0018g0087 a0001c0001t0018g0136 a0001c0001t0018g0148 a0001c0001t0029g0128 a0001c0001t0031g0367 a0001c0001t0038g0196 a0001c0001t0093g0299	8	392	0.0204	24	c.223 others(41): Show c.2235+528_2235+529insTATATATATATATATATATATACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31006292	G G	GTATTATT others(17): Show GTATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02647.hp1 HG02965.hp1 others(4): Show HG01943.hp2 HG02647.hp1 HG02965.hp1 HG03098.hp1 NA18941.hp1 NA18993.hp1 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0051 a0001c0001t0125 a0002c0002t0001 others(2): Show a0001c0001t0051 a0001c0001t0125 a0002c0002t0001 a0002c0002t0007 a0002c0002t0023	a0001c0001t0051g0090 a0001c0001t0051g0091 a0001c0001t0125g0369 others(4): Show a0001c0001t0051g0090 a0001c0001t0051g0091 a0001c0001t0125g0369 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0007g0071 a0002c0002t0023g0060	7	392	0.0179	24	c.188 others(41): Show c.1888+614_1888+615insATAATAATAATAATAATAATAATA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	12/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31027464	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02135.hp2 HG03688.hp1 others(3): Show HG01361.hp2 HG02135.hp2 HG03688.hp1 NA18522.hp2 NA18960.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0027 a0001c0001t0032 a0001c0004t0016	a0001c0001t0004g0130 a0001c0001t0011g0099 a0001c0001t0027g0086 others(3): Show a0001c0001t0004g0130 a0001c0001t0011g0099 a0001c0001t0027g0086 a0001c0001t0032g0123 a0001c0004t0016g0105 a0001c0004t0016g0122	6	392	0.0153	24	c.475 others(41): Show c.475-1573_475-1550dupGGAAGGAAGGAAGGAAGGAAGGAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	4/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117477198	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0142 a0001c0017t0001g0142	1	194	0.0052	24	c.278 others(43): Show c.2785+3221_2785+3244dupGTGTGTGTGTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117582992	A A	ATATTATT others(17): Show ATATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03540.hp1 HG01192.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0004 a0002c0003t0004 a0002c0002t0004 a0002c0003t0004	a0002c0002t0004g0188 a0002c0003t0004g0161 a0002c0002t0004g0188 a0002c0003t0004g0161	2	194	0.0103	24	c.512 others(43): Show c.512-50494_512-50471dupATAATAATAATAATAATAATAATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03195.hp2 HG02630.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0001 a0001c0022 a0002c0001	a0001c0022t0002 a0002c0001t0002 a0001c0022t0002 a0002c0001t0002	a0001c0022t0002g0176 a0002c0001t0002g0175 a0001c0022t0002g0176 a0002c0001t0002g0175	2	194	0.0103	24	c.511 others(43): Show c.511+89364_511+89365insAAAAAAAAAAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421442	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp2 HG04199.hp2 HG01891.hp1 HG02723.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0243 a0001c0001t0007g0248 a0001c0001t0008g0155 a0001c0001t0007g0243 a0001c0001t0007g0248 a0001c0001t0008g0155	3	366	0.0082	24	c.417 others(41): Show c.417-5110_417-5109insATATATATATATATATATATATAT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AAAACACA others(17): Show AAAACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0052 a0006c0016t0001g0052	1	396	0.0025	24	c.171 others(41): Show c.171-1635_171-1634insAACACACACACACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 HG03486.hp2 others(10): Show HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03669.hp1 NA18940.hp1 NA18965.hp1 NA18970.hp1 NA18972.hp2 NA18993.hp1 NA18995.hp1 NA19063.hp1 NA19063.hp2 NA19083.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0014 a0002c0003 others(4): Show a0001c0001 a0001c0014 a0002c0003 a0003c0028 a0004c0025 a0005c0008 a0006c0016	a0001c0001t0001 a0001c0014t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0014t0001 a0002c0003t0001 a0003c0028t0002 a0004c0025t0002 a0005c0008t0001 a0006c0016t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0178 others(8): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0001t0001g0216 a0001c0014t0001g0276 a0002c0003t0001g0170 a0002c0003t0001g0371 a0003c0028t0002g0257 a0004c0025t0002g0009 a0005c0008t0001g0310 a0006c0016t0001g0007	13	396	0.0328	24	c.171 others(41): Show c.171-1615_171-1592dupACACACACACACACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSP_chr6_7536671_7591714	7554125	A A	ACACACAC others(17): Show ACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03209.hp1 HG03486.hp1 others(1): Show HG02738.hp1 HG03209.hp1 HG03486.hp1 NA19007.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0002c0003 a0004c0011 a0001c0004 a0002c0003 a0004c0011	a0001c0004t0001 a0002c0003t0001 a0004c0011t0002 a0001c0004t0001 a0002c0003t0001 a0004c0011t0002	a0001c0004t0001g0245 a0001c0004t0001g0329 a0002c0003t0001g0330 others(1): Show a0001c0004t0001g0245 a0001c0004t0001g0329 a0002c0003t0001g0330 a0004c0011t0002g0021	4	396	0.0101	24	c.171 others(41): Show c.171-1592_171-1591insACACACACACACACACACACACCC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0249 a0001c0001t0009g0249	1	348	0.0029	24	c.3+1 others(39): Show c.3+13547_3+13548insTTTTTTTTTTTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DST_chr6_56452996_56959830	56654586	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0006 a0041 a0006 a0041	a0006c0007 a0041c0021 a0006c0007 a0041c0021	a0006c0007t0001 a0041c0021t0001 a0006c0007t0001 a0041c0021t0001	a0006c0007t0001g0013 a0041c0021t0001g0017 a0006c0007t0001g0013 a0041c0021t0001g0017	2	84	0.0238	24	c.121 others(43): Show c.1215-3343_1215-3342insTATATATATATATATATATATATA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	10/103			chr6	TogoVar
DST_chr6_56452996_56959830	56712090	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0079	1	84	0.0119	24	c.688 others(41): Show c.688-7722_688-7721insTTTTTTTTTTTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103			chr6	TogoVar
DST_chr6_56452996_56959830	56735553	T T	TCACCACC others(17): Show TCACCACCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0045 a0045	a0045c0013 a0045c0013	a0045c0013t0001 a0045c0013t0001	a0045c0013t0001g0076 a0045c0013t0001g0076	1	84	0.0119	24	c.626 others(39): Show c.626-265_626-264insGTGGTGGTGGTGGTGGTGGTGGTG	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	4/103			chr6	TogoVar
DST_chr6_56452996_56959830	56934560	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0037 a0037	a0037c0017 a0037c0017	a0037c0017t0001 a0037c0017t0001	a0037c0017t0001g0068 a0037c0017t0001g0068	1	84	0.0119	24	c.216 others(43): Show c.216+19224_216+19225insTATATATATATATATATATATAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DST_chr6_56452996_56959830	56938108	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0056 a0010c0056	a0010c0056t0001 a0010c0056t0001	a0010c0056t0001g0016 a0010c0056t0001g0016	1	84	0.0119	24	c.216 others(43): Show c.216+15676_216+15677insTATATATATATATAGAGAGAGAGA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTNA_chr18_34705298_34896844	34769725	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	112	0.0089	24	c.148 others(41): Show c.148+3699_148+3700insTTTTTTTTTTTTTTTTTTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25416804	C C	CGAAGGAA others(17): Show CGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	168	0.0060	24	c.157 others(43): Show c.1575+2687_1575+2710dupCTTCCTTCCTTCCTTCCTTCCTTC	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25416809	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	168	0.0060	24	c.157 others(43): Show c.1575+2705_1575+2706insGCTTCCTTCCTTCCTTCCTTCCTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526352	A A	AATATATA others(17): Show AATATATATAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	168	0.0060	24	c.100 others(43): Show c.1001+5120_1001+5121insATTTATATATATATTTATATATAT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar

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