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
DPYSL5_chr2_26843132_26955351	26928704	T T	TATATATA others(11): Show TATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0169 a0001c0007t0040g0169	1	232	0.0043	18	c.669 others(33): Show c.669+382_669+383insTATATATATACACACACA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931197	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	232	0.0043	18	c.670 others(33): Show c.670-442_670-441insATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26931199	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01516.hp2 HG01517.hp2 others(3): Show HG00438.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG02004.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0002 a0001c0006t0004 a0001c0002t0002 a0001c0006t0004	a0001c0002t0002g0045 a0001c0002t0002g0090 a0001c0002t0002g0145 others(3): Show a0001c0002t0002g0045 a0001c0002t0002g0090 a0001c0002t0002g0145 a0001c0002t0002g0212 a0001c0002t0002g0221 a0001c0006t0004g0161	6	232	0.0259	18	c.670 others(33): Show c.670-440_670-439insATATATATATATATATAT	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(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01981.hp1 others(2): Show HG01081.hp2 HG01256.hp1 HG01981.hp1 HG04204.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006	a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0004g0095 others(2): Show a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0004g0095 a0001c0002t0004g0142 a0001c0002t0006g0126	5	232	0.0216	18	c.670 others(33): Show c.670-438_670-437insATATATATATATATATAT	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(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18952.hp2 HG03492.hp1 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0198 a0001c0002t0002g0148 a0001c0002t0002g0198	2	232	0.0086	18	c.670 others(33): Show c.670-427_670-410dupATATATATATATATATAT	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0040 a0001c0007t0040	a0001c0007t0040g0169 a0001c0007t0040g0169	1	232	0.0043	18	c.947 others(35): Show c.947+2227_947+2228insAAAAAAAAAAAAAAAAAA	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(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01256.hp1 others(6): Show HG00099.hp1 HG00735.hp1 HG01256.hp1 HG01978.hp1 HG02738.hp1 HG03710.hp1 HG03927.hp2 NA18977.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0305 others(6): Show a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0320 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0343 a0001c0002t0001g0165 a0001c0002t0001g0197	9	380	0.0237	18	c.144 others(35): Show c.1444-556_1444-539dupTGTGTGTGTGTGTGTGTG	DPYS	ENSG00000147647.13	transcript	ENST00000351513.7	protein_coding	8/9			chr8	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02615.hp1 HG02630.hp2 others(4): Show HG01496.hp2 HG02615.hp1 HG02630.hp2 HG03225.hp1 NA18942.hp2 NA18970.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0097 a0001c0001t0003g0105 others(4): Show a0001c0001t0003g0088 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0111 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0237	7	396	0.0177	18	c.132 others(35): Show c.132-2664_132-2647dupTTTTTTTTTTTTTTTTTT	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(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02717.hp2 HG02723.hp2 others(1): Show HG01081.hp1 HG02717.hp2 HG02723.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0051 a0001c0001t0003g0199 a0001c0001t0003g0249 others(1): Show a0001c0001t0001g0051 a0001c0001t0003g0199 a0001c0001t0003g0249 a0001c0001t0003g0265	4	396	0.0101	18	c.342 others(35): Show c.342+2993_342+2994insTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	396	0.0025	18	c.672 others(32): Show c.672+98_672+115dupTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAXIN_chr1_11686710_11730857	11727667	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01361.hp2 others(18): Show HG01070.hp1 HG01071.hp1 HG01361.hp2 HG01433.hp1 HG02602.hp1 HG02922.hp1 HG03195.hp2 HG03490.hp2 HG03516.hp1 HG04204.hp2 NA18951.hp2 NA18957.hp2 NA18969.hp2 NA18971.hp2 NA18981.hp2 NA18984.hp2 NA18991.hp1 NA18999.hp2 NA19010.hp2 NA19070.hp2 NA19088.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0010 others(1): Show a0001c0001 a0002c0002 a0002c0010 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0036 a0002c0002t0002 a0002c0010t0004 a0003c0004t0002 a0003c0004t0083	a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0258 others(13): Show a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0258 a0001c0001t0004g0008 a0001c0001t0004g0323 a0001c0001t0010g0037 a0001c0001t0015g0039 a0001c0001t0036g0089 a0002c0002t0002g0173 a0002c0010t0004g0117 a0003c0004t0002g0072 a0003c0004t0002g0251 a0003c0004t0002g0252 a0003c0004t0002g0253 a0003c0004t0002g0256 a0003c0004t0083g0308	21	398	0.0528	18	c.79 others(29): Show c.7971_*7972insGTGTGTGTGTGTGTGTGT	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1811		chr1	TogoVar
DRAXIN_chr1_11686710_11730857	11727668	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG04184.hp2 HG03669.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0227 a0001c0003t0001g0329 a0001c0001t0001g0227 a0001c0003t0001g0329	2	398	0.0050	18	c.79 others(29): Show c.7972_*7973insTATGTGTGTGTGTGTGTG	DRAXIN	ENSG00000162490.7	transcript	ENST00000294485.6	protein_coding		1812		chr1	TogoVar
DRC1_chr2_26396920_26461711	26414115	C C	CATTATTA others(11): Show CATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01433.hp1 HG02698.hp2 others(3): Show HG00099.hp1 HG01433.hp1 HG02698.hp2 HG03225.hp1 HG03491.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0001t0004 a0001c0021t0009 a0001c0001t0001 a0001c0001t0004 a0001c0021t0009	a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0004g0090 others(3): Show a0001c0001t0001g0211 a0001c0001t0001g0224 a0001c0001t0004g0090 a0001c0001t0004g0192 a0001c0001t0004g0250 a0001c0021t0009g0327	6	384	0.0156	18	c.156 others(33): Show c.156-216_156-199dupATTATTATTATTATTATT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26420408	T T	TCTGCCTC others(11): Show TCTGCCTCACTGTCATTAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	384	0.0026	18	c.244 others(33): Show c.244-870_244-853dupTGTCATTACCTGCCTCAC	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC1_chr2_26396920_26461711	26439922	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0322 a0004c0003t0001g0322	1	384	0.0026	18	c.889 others(33): Show c.889-441_889-440insTATATATATATATATATA	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(11): Show TATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0351 a0001c0007t0003g0351	1	384	0.0026	18	c.889 others(33): Show c.889-441_889-440insTATATATATATATATACA	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18019147	C C	CCACACAC others(11): Show CCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02818.hp1 NA18973.hp2 others(1): Show HG02647.hp1 HG02818.hp1 NA18973.hp2 NA19240.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0015	a0001c0001 a0002c0002 a0006c0005 others(1): Show a0001c0001 a0002c0002 a0006c0005 a0015c0009	a0001c0001t0003 a0002c0002t0004 a0006c0005t0001 others(1): Show a0001c0001t0003 a0002c0002t0004 a0006c0005t0001 a0015c0009t0002	a0001c0001t0003g0281 a0002c0002t0004g0031 a0006c0005t0001g0303 others(1): Show a0001c0001t0003g0281 a0002c0002t0004g0031 a0006c0005t0001g0303 a0015c0009t0002g0006	4	324	0.0124	18	c.24 others(29): Show c.2476_*2477insCACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2259		chr17	TogoVar
DRC3_chr17_17967862_18021889	18019185	A A	ACACACAC others(11): Show ACACACACACACACACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	324	0.0031	18	c.25 others(29): Show c.2514_*2515insCACACACACACACACACC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2297		chr17	TogoVar
DRD1_chr5_175435036_175449182	175446088	C C	CCTAAAAA others(11): Show CCTAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0020 a0001c0004t0015g0020	1	490	0.0020	18	c.-28 others(29): Show c.-2874_-2873insTTTTTTTTTTTTTTTTAG	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1907		chr5	TogoVar
DRD1_chr5_175435036_175449182	175446090	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02559.hp2 HG01167.hp1 HG01243.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	3	490	0.0061	18	c.-28 others(29): Show c.-2876_-2875insTTTTTTTTTTTTTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1909		chr5	TogoVar
DRD3_chr3_114122580_114184052	114156743	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02683.hp2 HG02717.hp1 others(7): Show HG02027.hp1 HG02683.hp2 HG02717.hp1 HG02965.hp1 HG03831.hp1 NA18942.hp2 NA18986.hp1 NA18990.hp1 NA18998.hp1 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0004 a0001c0004t0001 a0002c0001t0001 others(2): Show a0001c0002t0004 a0001c0004t0001 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004	a0001c0002t0004g0241 a0001c0004t0001g0303 a0002c0001t0001g0171 others(7): Show a0001c0002t0004g0241 a0001c0004t0001g0303 a0002c0001t0001g0171 a0002c0001t0001g0194 a0002c0001t0003g0200 a0002c0001t0003g0201 a0002c0001t0003g0202 a0002c0001t0003g0206 a0002c0001t0004g0170 a0002c0001t0004g0179	10	360	0.0278	18	c.383 others(35): Show c.383+3011_383+3012insGAAAGAAAGAAAGAAAGA	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	3/6			chr3	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	418	0.0024	18	c.64+ others(33): Show c.64+2320_64+2321insATATATATATATATTTTT	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(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0101	1	418	0.0024	18	c.64+ others(33): Show c.64+2320_64+2321insATATATATATATTTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRICH1_chr22_23603452_23637321	23622518	T T	TCAAGATC others(11): Show TCAAGATCGTGTCAGTACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp1 others(81): Show HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02647.hp2 HG02738.hp1 HG02886.hp1 HG03516.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp1 NA18968.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 others(4): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004	a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0029 others(55): Show a0002c0002t0002g0003 a0002c0002t0002g0014 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0004g0009 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0087 a0002c0002t0004g0088 a0002c0002t0004g0096 a0002c0002t0006g0059 a0002c0002t0006g0089 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0287 a0003c0003t0002g0010 a0003c0003t0002g0032 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0105 a0003c0003t0002g0107 a0003c0003t0003g0016 a0003c0003t0004g0007 a0003c0003t0004g0104 a0003c0003t0004g0106 a0003c0003t0004g0108	84	446	0.1883	18	c.299 others(33): Show c.299-360_299-343dupTGTACTGACACGATCTTG	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	3/11			chr22	TogoVar
DROSHA_chr5_31395494_31537093	31397451	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG01109.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0286 a0001c0001t0003g0287	2	322	0.0062	18	c.39 others(29): Show c.3980_*3981insATATATATATATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3042		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTATATAT others(11): Show TTATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG03239.hp2 HG03540.hp1 others(3): Show HG01981.hp1 HG03239.hp2 HG03540.hp1 HG03540.hp2 HG04204.hp2 NA19078.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0002c0005t0001	a0001c0001t0002g0117 a0001c0001t0005g0315 a0001c0002t0001g0232 others(3): Show a0001c0001t0002g0117 a0001c0001t0005g0315 a0001c0002t0001g0232 a0001c0002t0001g0235 a0002c0005t0001g0030 a0002c0005t0001g0263	6	322	0.0186	18	c.39 others(29): Show c.3979_*3980insTATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31397452	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0213 a0001c0002t0001g0213	1	322	0.0031	18	c.39 others(29): Show c.3979_*3980insTATATATATATATATAAA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		3041		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31399380	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0046 a0001c0008t0002g0046	1	322	0.0031	18	c.20 others(29): Show c.2051_*2052insACACACACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		1113		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421917	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG02055.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0257 a0001c0001t0003g0185 a0001c0001t0003g0257	2	322	0.0062	18	c.342 others(35): Show c.3420-541_3420-540insACACACACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31480178	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 NA19078.hp1 HG00099.hp1 HG00621.hp2 NA19078.hp1	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0002 a0002c0004t0004 a0002c0005t0001 a0002c0004t0002 a0002c0004t0004 a0002c0005t0001	a0002c0004t0002g0272 a0002c0004t0004g0008 a0002c0005t0001g0030 a0002c0004t0002g0272 a0002c0004t0004g0008 a0002c0005t0001g0030	3	322	0.0093	18	c.207 others(37): Show c.2071+3358_2071+3375dupTATATATATATATATATA	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	16/35			chr5	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0301 a0008c0017t0001g0301	1	378	0.0027	18	c.148 others(33): Show c.148+397_148+398insAAAAAAAAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31001089	G G	GTGTATAT others(11): Show GTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01361.hp1 others(35): Show HG00423.hp1 HG00609.hp2 HG01361.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18940.hp1 NA18943.hp2 NA18946.hp2 NA18949.hp1 NA18962.hp2 NA18963.hp1 NA18984.hp2 NA18991.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0001 a0001c0007 a0002c0002 others(3): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0005c0008 a0012c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0027 a0001c0001t0032 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0090 a0001c0001t0108 a0001c0007t0001 a0001c0007t0026 a0001c0007t0088 a0001c0007t0091 a0002c0002t0002 a0002c0002t0008 a0002c0002t0019 a0002c0002t0077 a0002c0002t0128 a0002c0006t0014 a0002c0006t0050 a0005c0008t0017 a0012c0019t0030	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0337 others(34): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0002g0356 a0001c0001t0002g0358 a0001c0001t0004g0130 a0001c0001t0004g0196 a0001c0001t0007g0081 a0001c0001t0007g0155 a0001c0001t0011g0084 a0001c0001t0012g0110 a0001c0001t0013g0101 a0001c0001t0017g0083 a0001c0001t0017g0150 a0001c0001t0019g0357 a0001c0001t0027g0086 a0001c0001t0027g0096 a0001c0001t0032g0123 a0001c0001t0043g0085 a0001c0001t0045g0336 a0001c0001t0046g0353 a0001c0001t0090g0117 a0001c0001t0108g0109 a0001c0007t0001g0156 a0001c0007t0026g0094 a0001c0007t0088g0143 a0001c0007t0091g0114 a0002c0002t0002g0076 a0002c0002t0008g0259 a0002c0002t0019g0242 a0002c0002t0077g0303 a0002c0002t0128g0374 a0002c0006t0014g0329 a0002c0006t0050g0013 a0005c0008t0017g0227 a0012c0019t0030g0279	38	392	0.0969	18	c.223 others(35): Show c.2235+528_2235+529insTATATATATATATATACA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	14/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31006292	G G	GTATTATT others(11): Show GTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp1 HG01243.hp1 others(19): Show HG01074.hp2 HG01123.hp1 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03704.hp2 HG04204.hp1 NA18948.hp1 NA18952.hp1 NA19091.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0012 others(1): Show a0001c0001 a0002c0002 a0002c0012 a0002c0018	a0001c0001t0030 a0002c0002t0001 a0002c0002t0005 others(8): Show a0001c0001t0030 a0002c0002t0001 a0002c0002t0005 a0002c0002t0019 a0002c0002t0022 a0002c0002t0023 a0002c0002t0092 a0002c0002t0096 a0002c0012t0005 a0002c0012t0095 a0002c0018t0005	a0001c0001t0030g0137 a0002c0002t0001g0004 a0002c0002t0001g0029 others(18): Show a0001c0001t0030g0137 a0002c0002t0001g0004 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0005g0236 a0002c0002t0005g0252 a0002c0002t0005g0266 a0002c0002t0005g0282 a0002c0002t0019g0019 a0002c0002t0022g0239 a0002c0002t0023g0253 a0002c0002t0092g0235 a0002c0002t0096g0286 a0002c0012t0005g0326 a0002c0012t0095g0325 a0002c0018t0005g0372	22	392	0.0561	18	c.188 others(35): Show c.1888+597_1888+614dupATAATAATAATAATAATA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	12/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31036798	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02257.hp1 NA18943.hp2 others(4): Show HG01255.hp2 HG02257.hp1 NA18943.hp2 NA18959.hp1 NA18985.hp1 NA19001.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 a0001c0001 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0001t0013 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0031 a0001c0001t0036 a0001c0004t0059 a0001c0014t0112	a0001c0001t0001g0337 a0001c0001t0013g0006 a0001c0001t0031g0368 others(3): Show a0001c0001t0001g0337 a0001c0001t0013g0006 a0001c0001t0031g0368 a0001c0001t0036g0092 a0001c0004t0059g0161 a0001c0014t0112g0369	7	392	0.0179	18	c.70- others(33): Show c.70-4523_70-4522insAAAAAAAAAAAAAAAAAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117424677	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0115 a0002c0001t0002g0115	1	194	0.0052	18	c.36 others(29): Show c.3650_*3651insTTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding		3094		chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117477198	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02055.hp1 HG02071.hp1 others(8): Show HG01934.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02165.hp1 HG02717.hp2 HG02886.hp1 NA18994.hp2 NA19011.hp1 NA19063.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0012 others(6): Show a0001c0005 a0001c0007 a0001c0012 a0001c0015 a0001c0027 a0001c0029 a0001c0036 a0001c0046 a0002c0002	a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 others(7): Show a0001c0005t0001 a0001c0007t0001 a0001c0012t0001 a0001c0012t0002 a0001c0015t0002 a0001c0027t0001 a0001c0029t0002 a0001c0036t0003 a0001c0046t0001 a0002c0002t0004	a0001c0005t0001g0096 a0001c0007t0001g0092 a0001c0012t0001g0043 others(8): Show a0001c0005t0001g0096 a0001c0007t0001g0092 a0001c0012t0001g0043 a0001c0012t0002g0060 a0001c0012t0002g0061 a0001c0015t0002g0038 a0001c0027t0001g0012 a0001c0029t0002g0103 a0001c0036t0003g0063 a0001c0046t0001g0131 a0002c0002t0004g0004	11	194	0.0567	18	c.278 others(37): Show c.2785+3227_2785+3244dupGTGTGTGTGTGTGTGTGT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	14/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117512799	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0123 a0001c0052t0001g0123	1	194	0.0052	18	c.178 others(37): Show c.1783+3667_1783+3668insGGTGTGTGTGTGTGTGTG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117515610	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0002 a0003c0040t0002	a0003c0040t0002g0014 a0003c0040t0002g0014	1	194	0.0052	18	c.178 others(35): Show c.1783+839_1783+856dupAAAAAAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117539606	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0150 a0002c0006t0004g0150	1	194	0.0052	18	c.512 others(35): Show c.512-7102_512-7085dupTTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117582992	A A	ATATTATT others(11): Show ATATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00642.hp1 others(19): Show HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01074.hp1 HG01255.hp2 HG01257.hp1 HG02071.hp2 HG02135.hp2 HG02293.hp1 HG02630.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03130.hp2 NA18906.hp1 NA18983.hp1 NA19030.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0005 a0001c0007 a0001c0015 others(13): Show a0001c0005 a0001c0007 a0001c0015 a0001c0022 a0001c0024 a0001c0043 a0002c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0010 a0002c0034 a0002c0057 a0002c0069 a0003c0040 a0004c0068	a0001c0005t0004 a0001c0007t0001 a0001c0015t0002 others(16): Show a0001c0005t0004 a0001c0007t0001 a0001c0015t0002 a0001c0022t0002 a0001c0024t0002 a0001c0043t0003 a0002c0001t0001 a0002c0001t0004 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0002 a0002c0004t0003 a0002c0010t0002 a0002c0034t0001 a0002c0057t0003 a0002c0069t0002 a0003c0040t0002 a0004c0068t0001	a0001c0005t0004g0023 a0001c0007t0001g0111 a0001c0007t0001g0112 others(19): Show a0001c0005t0004g0023 a0001c0007t0001g0111 a0001c0007t0001g0112 a0001c0015t0002g0038 a0001c0022t0002g0176 a0001c0024t0002g0036 a0001c0043t0003g0184 a0002c0001t0001g0042 a0002c0001t0001g0126 a0002c0001t0004g0139 a0002c0002t0001g0182 a0002c0003t0001g0107 a0002c0003t0002g0169 a0002c0003t0002g0185 a0002c0004t0002g0017 a0002c0004t0003g0002 a0002c0010t0002g0018 a0002c0034t0001g0125 a0002c0057t0003g0035 a0002c0069t0002g0189 a0003c0040t0002g0014 a0004c0068t0001g0146	22	194	0.1134	18	c.512 others(37): Show c.512-50488_512-50471dupATAATAATAATAATAATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117672102	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0042 a0002c0062 a0001c0008 a0001c0042 a0002c0062	a0001c0008t0004 a0001c0042t0003 a0002c0062t0002 a0001c0008t0004 a0001c0042t0003 a0002c0062t0002	a0001c0008t0004g0100 a0001c0042t0003g0127 a0002c0062t0002g0117 a0001c0008t0004g0100 a0001c0042t0003g0127 a0002c0062t0002g0117	3	194	0.0155	18	c.511 others(39): Show c.511+104671_511+104688dupTTTTTTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117762868	G G	GTAATAAT others(11): Show GTAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03471.hp2 NA18977.hp1 HG02135.hp2 HG03471.hp2 NA18977.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0033 a0002c0034 a0001c0011 a0002c0033 a0002c0034	a0001c0011t0002 a0002c0033t0002 a0002c0034t0001 a0001c0011t0002 a0002c0033t0002 a0002c0034t0001	a0001c0011t0002g0026 a0002c0033t0002g0104 a0002c0034t0001g0125 a0001c0011t0002g0026 a0002c0033t0002g0104 a0002c0034t0001g0125	3	194	0.0155	18	c.511 others(37): Show c.511+13905_511+13922dupTTATTATTATTATTATTA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117763653	C C	CCAGGAGT others(11): Show CCAGGAGTTCACTGACACA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0078 a0001c0016t0001g0078	1	194	0.0052	18	c.511 others(37): Show c.511+13120_511+13137dupTGTGTCAGTGAACTCCTG	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780232	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02559.hp1 HG01109.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0047 a0001c0008 a0001c0047	a0001c0008t0001 a0001c0047t0002 a0001c0008t0001 a0001c0047t0002	a0001c0008t0001g0118 a0001c0047t0002g0057 a0001c0008t0001g0118 a0001c0047t0002g0057	2	194	0.0103	18	c.364 others(33): Show c.364+243_364+260dupTTCTTTCTTTCTTTCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780304	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA18977.hp1 HG01257.hp1 NA18977.hp1	a0002 a0002	a0002c0010 a0002c0033 a0002c0010 a0002c0033	a0002c0010t0002 a0002c0033t0002 a0002c0010t0002 a0002c0033t0002	a0002c0010t0002g0018 a0002c0033t0002g0104 a0002c0010t0002g0018 a0002c0033t0002g0104	2	194	0.0103	18	c.364 others(33): Show c.364+188_364+189insTTCTTTCTTTCTTTCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116410764	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0283 a0001c0001t0002g0283	1	366	0.0027	18	c.416 others(37): Show c.416+11100_416+11101insAAAAAAAAAAAAAAAGAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421442	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03654.hp2 HG01258.hp2 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0010 a0001c0001t0008 a0003c0003t0010	a0001c0001t0008g0160 a0003c0003t0010g0106 a0001c0001t0008g0160 a0003c0003t0010g0106	2	366	0.0055	18	c.417 others(35): Show c.417-5127_417-5110dupATATATATATATATATAT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18906.hp2 HG00099.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0017 a0001c0001t0014 a0001c0001t0017	a0001c0001t0014g0090 a0001c0001t0017g0266 a0001c0001t0014g0090 a0001c0001t0017g0266	2	366	0.0055	18	c.417 others(35): Show c.417-5110_417-5109insATATATATATATATTTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0015 a0005c0006t0015	a0005c0006t0015g0328 a0005c0006t0015g0328	1	366	0.0027	18	c.417 others(35): Show c.417-5110_417-5109insATATATATATATTTTTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116446393	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02895.hp2 HG02897.hp2 others(4): Show HG02717.hp1 HG02895.hp2 HG02897.hp2 HG03927.hp2 NA18947.hp1 NA18953.hp2 NA19078.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0005 a0004c0005t0012 a0002c0002t0005 a0004c0005t0012	a0002c0002t0005g0024 a0002c0002t0005g0057 a0002c0002t0005g0073 others(3): Show a0002c0002t0005g0024 a0002c0002t0005g0057 a0002c0002t0005g0073 a0002c0002t0005g0332 a0004c0005t0012g0023 a0004c0005t0012g0324	7	366	0.0191	18	c.90 others(29): Show c.9048_*9049insAAAAAAAAAAAAAAAAAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding		1533		chr6	TogoVar

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