Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DPYSL2_chr8_26509031_26663175	26524835	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18977.hp1 NA19063.hp2 others(1): Show NA18970.hp2 NA18977.hp1 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0031 a0001c0001t0012 a0001c0001t0031	a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0001t0012g0217 others(1): Show a0001c0001t0012g0023 a0001c0001t0012g0025 a0001c0001t0012g0217 a0001c0001t0031g0024	4	316	0.0127	13	c.354 others(32): Show c.354+10157_354+10158insAAAAAAAAAAAGA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26527804	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	316	0.0032	13	c.354 others(32): Show c.354+13130_354+13142dupTTTTTTTTTTTTT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26546921	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0052 a0001c0001t0008g0052	1	316	0.0032	13	c.354 others(32): Show c.354+32260_354+32272dupAAAAAAAAAAAAA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556144	G G	GTATATAT others(6): Show GTATATATAGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(85): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02523.hp1 HG02735.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18960.hp2 NA18963.hp2 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19010.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0027 a0001c0001t0031 a0001c0001t0044 a0001c0001t0051 a0001c0001t0054 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0001c0002t0049 a0001c0003t0001 a0001c0003t0004 a0001c0003t0009 a0001c0003t0015 a0001c0003t0020 a0001c0007t0001 a0001c0011t0001 a0002c0005t0003	a0001c0001t0001g0303 a0001c0001t0002g0225 a0001c0001t0002g0228 others(84): Show a0001c0001t0001g0303 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0285 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0302 a0001c0001t0003g0069 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0241 a0001c0001t0003g0247 a0001c0001t0003g0254 a0001c0001t0004g0075 a0001c0001t0007g0073 a0001c0001t0007g0086 a0001c0001t0007g0091 a0001c0001t0011g0001 a0001c0001t0011g0258 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0011g0304 a0001c0001t0027g0259 a0001c0001t0027g0260 a0001c0001t0031g0024 a0001c0001t0044g0199 a0001c0001t0051g0085 a0001c0001t0054g0184 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0182 a0001c0002t0001g0227 a0001c0002t0001g0230 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0281 a0001c0002t0001g0289 a0001c0002t0001g0295 a0001c0002t0004g0221 a0001c0002t0004g0223 a0001c0002t0004g0269 a0001c0002t0005g0079 a0001c0002t0005g0087 a0001c0002t0006g0270 a0001c0002t0009g0231 a0001c0002t0009g0266 a0001c0002t0015g0232 a0001c0002t0015g0233 a0001c0002t0015g0234 a0001c0002t0049g0240 a0001c0003t0001g0226 a0001c0003t0004g0288 a0001c0003t0009g0272 a0001c0003t0015g0235 a0001c0003t0020g0268 a0001c0007t0001g0261 a0001c0011t0001g0264 a0001c0011t0001g0301 a0002c0005t0003g0010 a0002c0005t0003g0243 a0002c0005t0003g0250 a0002c0005t0003g0251 a0002c0005t0003g0252 a0002c0005t0003g0253	88	316	0.2785	13	c.355 others(32): Show c.355-25819_355-25818insTAGTATATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556144	G G	GTATATAT others(6): Show GTATATATATAGTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0013 a0001c0001t0019g0014 a0001c0001t0019g0013 a0001c0001t0019g0014	2	316	0.0063	13	c.355 others(32): Show c.355-25819_355-25818insTATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556175	A A	ATTATATA others(6): Show ATTATATATAGTAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0089 a0001c0002t0004g0089	1	316	0.0032	13	c.355 others(32): Show c.355-25794_355-25793insTTATATATAGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556328	G G	GTATATAT others(6): Show GTATATATATAGTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0029 a0001c0001t0052g0029	1	316	0.0032	13	c.355 others(32): Show c.355-25597_355-25585dupTATATAGTATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(6): Show ATATATATATAGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA21309.hp1 HG02965.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0006 a0001c0001t0024 a0001c0002t0006	a0001c0001t0024g0139 a0001c0002t0006g0131 a0001c0001t0024g0139 a0001c0002t0006g0131	2	316	0.0063	13	c.355 others(32): Show c.355-25603_355-25602insGTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	418	0.0024	13	c.10 others(24): Show c.1052_*1053insCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DPYSL5_chr2_26843132_26955351	26936945	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0128 a0001c0002t0002g0155 a0001c0002t0004g0099 a0001c0002t0002g0128 a0001c0002t0002g0155 a0001c0002t0004g0099	3	232	0.0129	13	c.947 others(30): Show c.947+2215_947+2227dupAAAAAAAAAAAAA	DPYSL5	ENSG00000157851.17	transcript	ENST00000288699.11	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRAM1_chr12_101872580_101928612	101889520	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG01106.hp1 others(17): Show HG00140.hp2 HG00642.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01943.hp2 HG01975.hp2 HG03540.hp2 HG03710.hp1 NA18945.hp2 NA18946.hp1 NA18992.hp1 NA19009.hp1 NA19030.hp2 NA19060.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 others(16): Show a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0380 a0001c0001t0003g0376 a0001c0001t0003g0377 a0001c0001t0003g0378 a0001c0001t0003g0381 a0001c0001t0003g0382 a0001c0001t0004g0348 a0001c0001t0008g0003 a0001c0001t0008g0371 a0001c0001t0008g0372 a0001c0001t0008g0375 a0001c0001t0008g0383 a0001c0001t0011g0370 a0001c0001t0011g0373 a0001c0001t0011g0374 a0001c0001t0011g0379	20	396	0.0505	13	c.132 others(30): Show c.132-8341_132-8329dupAGGAAGGAAGGAA	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(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19058.hp2 HG02572.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0337 a0001c0001t0005g0250 a0001c0001t0004g0337 a0001c0001t0005g0250	2	396	0.0051	13	c.342 others(30): Show c.342+2993_342+2994insTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	3/6			chr12	TogoVar
DRAM2_chr1_111112163_111145093	111131592	A A	AAAAGATA others(6): Show AAAAGATAATTCAC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	440	0.0023	13	c.-14 others(26): Show c.-14-37_-14-25dupGTGAATTATCTTT	DRAM2	ENSG00000156171.15	transcript	ENST00000484310.6	protein_coding	3/9			chr1	TogoVar
DRD1_chr5_175435036_175449182	175446106	A A	AAAAAAAC others(6): Show AAAAAAACAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	490	0.0020	13	c.-28 others(24): Show c.-2892_-2891insGTTTTTGTTTTTT	DRD1	ENSG00000184845.4	transcript	ENST00000393752.3	protein_coding		1925		chr5	TogoVar
DRD2_chr11_113404605_113480398	113439838	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19087.hp2 NA18951.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0198 a0001c0001t0004g0033 a0001c0001t0001g0198 a0001c0001t0004g0033	2	340	0.0059	13	c.-31 others(32): Show c.-31-15169_-31-15157dupTTTTTTTTTTTTT	DRD2	ENSG00000149295.14	transcript	ENST00000362072.8	protein_coding	1/7			chr11	TogoVar
DRD3_chr3_114122580_114184052	114164220	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02647.hp1 HG01496.hp1 HG02055.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0004g0335 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0004g0335	3	360	0.0083	13	c.271 others(30): Show c.271-4366_271-4354dupTTTTTTTTTTTTT	DRD3	ENSG00000151577.14	transcript	ENST00000383673.5	protein_coding	2/6			chr3	TogoVar
DRG2_chr17_18082948_18112969	18090406	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0099	1	418	0.0024	13	c.64+ others(28): Show c.64+2320_64+2321insATATATATATATT	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(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0106 a0001c0002t0002g0106	1	418	0.0024	13	c.64+ others(28): Show c.64+2320_64+2321insATATATATTTTTT	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DRG2_chr17_18082948_18112969	18090407	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	418	0.0024	13	c.64+ others(28): Show c.64+2320_64+2321insATATATATATATA	DRG2	ENSG00000108591.10	transcript	ENST00000225729.8	protein_coding	1/12			chr17	TogoVar
DROSHA_chr5_31395494_31537093	31399412	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03927.hp2 HG03486.hp2 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0003 a0002c0004t0002 a0001c0002t0003 a0002c0004t0002	a0001c0002t0003g0123 a0002c0004t0002g0110 a0001c0002t0003g0123 a0002c0004t0002g0110	2	322	0.0062	13	c.20 others(24): Show c.2019_*2020insCACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding		1081		chr5	TogoVar
DROSHA_chr5_31395494_31537093	31421898	T T	TATATATA others(6): Show TATATATATGCGCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0086 a0001c0003t0015g0086	1	322	0.0031	13	c.342 others(30): Show c.3420-522_3420-521insGGCGCATATATAT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	29/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31446446	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0297 a0001c0011t0001g0297	1	322	0.0031	13	c.288 others(32): Show c.2882+2088_2882+2100dupTTTTTTTTTTTTT	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	23/35			chr5	TogoVar
DROSHA_chr5_31395494_31537093	31493984	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	322	0.0031	13	c.175 others(30): Show c.1756-692_1756-691insCACACACACACAC	DROSHA	ENSG00000113360.17	transcript	ENST00000344624.8	protein_coding	12/35			chr5	TogoVar
DRP2_chrX_101214786_101269502	101224191	G G	GTTTTGTT others(6): Show GTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03516.hp1 HG02258.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0010 a0001c0005t0005 a0001c0003t0010 a0001c0005t0005	a0001c0003t0010g0026 a0001c0005t0005g0023 a0001c0003t0010g0026 a0001c0005t0005g0023	2	260	0.0077	13	c.-16 others(30): Show c.-166-409_-166-408insGTTTTGTTTTTTT	DRP2	ENSG00000102385.13	transcript	ENST00000395209.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
DSC1_chr18_31124236_31167856	31159046	G G	GATTTTTT others(6): Show GATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	378	0.0027	13	c.148 others(28): Show c.148+398_148+399insAAAAAAAAAAAAT	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTGTT others(6): Show GTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18993.hp2 NA18998.hp1 others(3): Show NA18943.hp2 NA18993.hp2 NA18998.hp1 NA19004.hp1 NA19010.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0006 a0001c0003 a0002c0006	a0001c0003t0001 a0002c0006t0001 a0001c0003t0001 a0002c0006t0001	a0001c0003t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0137 others(1): Show a0001c0003t0001g0020 a0002c0006t0001g0021 a0002c0006t0001g0137 a0002c0006t0001g0138	6	378	0.0159	13	c.148 others(28): Show c.148+397_148+398insAAAAAAAACAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31159047	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00609.hp2 others(93): Show HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03834.hp1 HG03927.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA19004.hp2 NA19010.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0002 a0002c0005 a0002c0006 a0003c0007 a0003c0018 a0005c0028 a0007c0022	a0001c0001t0002 a0001c0001t0018 a0001c0003t0002 others(18): Show a0001c0001t0002 a0001c0001t0018 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0008t0001 a0001c0009t0002 a0001c0009t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0002c0005t0001 a0002c0006t0001 a0003c0007t0006 a0003c0018t0005 a0005c0028t0002 a0007c0022t0003	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0018g0308 others(84): Show a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0018g0308 a0001c0003t0002g0023 a0001c0003t0002g0032 a0001c0003t0002g0207 a0001c0003t0002g0208 a0001c0003t0002g0241 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0003g0007 a0001c0003t0003g0133 a0001c0003t0003g0205 a0001c0003t0003g0206 a0001c0003t0003g0244 a0001c0003t0003g0247 a0001c0003t0003g0248 a0001c0003t0003g0249 a0001c0003t0007g0007 a0001c0003t0007g0245 a0001c0003t0015g0037 a0001c0004t0001g0152 a0001c0004t0001g0210 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0234 a0001c0004t0001g0235 a0001c0004t0001g0237 a0001c0004t0001g0239 a0001c0004t0002g0147 a0001c0004t0002g0217 a0001c0004t0002g0225 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0003g0218 a0001c0008t0001g0045 a0001c0009t0002g0039 a0001c0009t0010g0324 a0001c0009t0010g0325 a0002c0002t0001g0003 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0131 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0204 a0002c0002t0001g0209 a0002c0002t0001g0214 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0240 a0002c0002t0001g0257 a0002c0002t0002g0220 a0002c0002t0002g0236 a0002c0002t0012g0144 a0002c0005t0001g0270 a0002c0005t0001g0271 a0002c0005t0001g0272 a0002c0006t0001g0018 a0002c0006t0001g0116 a0002c0006t0001g0132 a0002c0006t0001g0251 a0002c0006t0001g0252 a0003c0007t0006g0309 a0003c0007t0006g0310 a0003c0018t0005g0255 a0005c0028t0002g0156 a0007c0022t0003g0256	96	378	0.2540	13	c.148 others(28): Show c.148+385_148+397dupAAAAAAAAAAAAA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	2/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31036798	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG03098.hp2 others(2): Show HG02976.hp1 HG03041.hp2 HG03098.hp2 NA18984.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0120 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0120 a0002c0002t0123	a0002c0002t0001g0032 a0002c0002t0002g0076 a0002c0002t0002g0077 others(2): Show a0002c0002t0001g0032 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0120g0079 a0002c0002t0123g0078	5	392	0.0128	13	c.70- others(28): Show c.70-4523_70-4522insAAAAAAAAAAAAA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	1/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117484023	C C	CGCCCCCC others(6): Show CGCCCCCCACCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02109.hp2 others(10): Show HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03225.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0001c0012 a0001c0017 others(4): Show a0001c0009 a0001c0012 a0001c0017 a0001c0048 a0002c0002 a0002c0006 a0002c0065	a0001c0009t0001 a0001c0009t0002 a0001c0009t0003 others(7): Show a0001c0009t0001 a0001c0009t0002 a0001c0009t0003 a0001c0012t0004 a0001c0017t0004 a0001c0048t0002 a0002c0002t0003 a0002c0002t0004 a0002c0006t0001 a0002c0065t0003	a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 others(10): Show a0001c0009t0001g0068 a0001c0009t0001g0069 a0001c0009t0002g0019 a0001c0009t0002g0160 a0001c0009t0002g0180 a0001c0009t0003g0157 a0001c0012t0004g0177 a0001c0017t0004g0009 a0001c0048t0002g0057 a0002c0002t0003g0013 a0002c0002t0004g0020 a0002c0006t0001g0156 a0002c0065t0003g0153	13	194	0.0670	13	c.236 others(32): Show c.2360-1862_2360-1861insAGGGGTGGGGGGC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117484023	C C	CGCCCCCC others(6): Show CGCCCCCCGCCCCT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01192.hp1 HG01993.hp1 others(13): Show HG00673.hp2 HG01192.hp1 HG01993.hp1 HG02056.hp1 HG03225.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA19011.hp1 NA19012.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0005 a0001c0007 a0001c0008 others(6): Show a0001c0005 a0001c0007 a0001c0008 a0001c0018 a0001c0028 a0002c0004 a0004c0063 a0005c0031 a0006c0058	a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 others(11): Show a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0018t0001 a0001c0018t0002 a0001c0028t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0004c0063t0002 a0005c0031t0001 a0005c0031t0002 a0006c0058t0001	a0001c0005t0001g0084 a0001c0005t0001g0190 a0001c0005t0002g0144 others(13): Show a0001c0005t0001g0084 a0001c0005t0001g0190 a0001c0005t0002g0144 a0001c0007t0001g0092 a0001c0008t0001g0167 a0001c0018t0001g0098 a0001c0018t0002g0087 a0001c0018t0002g0134 a0001c0028t0001g0067 a0002c0004t0001g0113 a0002c0004t0002g0168 a0002c0004t0004g0066 a0004c0063t0002g0106 a0005c0031t0001g0101 a0005c0031t0002g0045 a0006c0058t0001g0109	16	194	0.0825	13	c.236 others(32): Show c.2360-1874_2360-1862dupAGGGGCGGGGGGC	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	11/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117515610	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00673.hp2 others(12): Show HG00280.hp1 HG00558.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01515.hp1 HG02280.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG04184.hp2 NA18977.hp1 NA19240.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0001c0016 a0001c0057 others(7): Show a0001c0008 a0001c0016 a0001c0057 a0002c0001 a0002c0002 a0002c0004 a0002c0006 a0002c0010 a0002c0033 a0002c0067	a0001c0008t0001 a0001c0016t0001 a0001c0057t0001 others(11): Show a0001c0008t0001 a0001c0016t0001 a0001c0057t0001 a0002c0001t0001 a0002c0001t0004 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0004t0002 a0002c0006t0001 a0002c0006t0002 a0002c0010t0004 a0002c0033t0002 a0002c0067t0002	a0001c0008t0001g0167 a0001c0016t0001g0044 a0001c0057t0001g0075 others(12): Show a0001c0008t0001g0167 a0001c0016t0001g0044 a0001c0057t0001g0075 a0002c0001t0001g0126 a0002c0001t0004g0082 a0002c0002t0001g0182 a0002c0002t0003g0194 a0002c0002t0004g0086 a0002c0004t0002g0005 a0002c0006t0001g0187 a0002c0006t0002g0088 a0002c0006t0002g0093 a0002c0010t0004g0058 a0002c0033t0002g0104 a0002c0067t0002g0070	15	194	0.0773	13	c.178 others(30): Show c.1783+844_1783+856dupAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	8/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117672102	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02055.hp1 HG01993.hp2 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0036 a0002c0001 a0001c0036 a0002c0001	a0001c0036t0003 a0002c0001t0001 a0001c0036t0003 a0002c0001t0001	a0001c0036t0003g0063 a0002c0001t0001g0076 a0001c0036t0003g0063 a0002c0001t0001g0076	2	194	0.0103	13	c.511 others(34): Show c.511+104676_511+104688dupTTTTTTTTTTTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117687426	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0002 a0001c0048t0002	a0001c0048t0002g0057 a0001c0048t0002g0057	1	194	0.0052	13	c.511 others(32): Show c.511+89352_511+89364dupAAAAAAAAAAAAA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 HG02970.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0311 a0001c0001t0024g0312 a0001c0001t0024g0311 a0001c0001t0024g0312	2	366	0.0055	13	c.417 others(30): Show c.417-5110_417-5109insATATATATATATT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421464	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0017 a0005c0006t0017	a0005c0006t0017g0303 a0005c0006t0017g0303	1	366	0.0027	13	c.417 others(30): Show c.417-5110_417-5109insATATATATATATA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5			chr6	TogoVar
DSE_chr6_116365947_116449861	116446393	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02257.hp1 others(2): Show HG02055.hp1 HG02145.hp2 HG02257.hp1 HG02976.hp2 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0048 a0001c0001t0002 a0001c0001t0007 a0001c0001t0048	a0001c0001t0002g0187 a0001c0001t0007g0246 a0001c0001t0007g0249 others(2): Show a0001c0001t0002g0187 a0001c0001t0007g0246 a0001c0001t0007g0249 a0001c0001t0007g0313 a0001c0001t0048g0329	5	366	0.0137	13	c.90 others(24): Show c.9048_*9049insAAAAAAAAAAAAA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding		1533		chr6	TogoVar
DSN1_chr20_36746795_36778763	36751473	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0003c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(148): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0003g0011 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0006g0057 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0008g0041 a0003c0004t0003g0129	205	332	0.6175	13	c.13 others(24): Show c.1314_*1315insAAAAAAAAAAAAA	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding		321		chr20	TogoVar
DSN1_chr20_36746795_36778763	36765247	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG01884.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0009 a0001c0005t0004 a0001c0001t0009 a0001c0005t0004	a0001c0001t0009g0242 a0001c0005t0004g0045 a0001c0001t0009g0242 a0001c0005t0004g0045	2	332	0.0060	13	c.502 others(30): Show c.502+1509_502+1521dupTTTTTTTTTTTTT	DSN1	ENSG00000149636.16	transcript	ENST00000373750.9	protein_coding	5/10			chr20	TogoVar
DSP_chr6_7536671_7591714	7554082	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0221 a0001c0021t0001g0221	1	396	0.0025	13	c.171 others(30): Show c.171-1636_171-1635insCACACACACACAC	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSP_chr6_7536671_7591714	7554126	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0372 a0001c0010t0001g0372	1	396	0.0025	13	c.171 others(30): Show c.171-1592_171-1591insACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DST_chr6_56452996_56959830	56593516	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0049 a0049	a0049c0022 a0049c0022	a0049c0022t0001 a0049c0022t0001	a0049c0022t0001g0027 a0049c0022t0001g0027	1	84	0.0119	13	c.127 others(32): Show c.12726+134_12726+146dupTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	48/103			chr6	TogoVar
DST_chr6_56452996_56959830	56920895	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0079	1	84	0.0119	13	c.217 others(32): Show c.217-20287_217-20275dupAAAAAAAAAAAAA	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTD1_chr20_18583054_18771644	18622942	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00544.hp1 others(78): Show HG00140.hp1 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01516.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02683.hp2 HG02717.hp1 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03834.hp2 NA18612.hp1 NA18943.hp1 NA18944.hp2 NA18954.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19066.hp2 NA19074.hp1 NA19077.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0002c0002t0008 a0002c0002t0012 a0002c0002t0034	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0197 others(78): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0392 a0001c0001t0002g0266 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0369 a0001c0001t0006g0165 a0001c0001t0006g0166 a0001c0001t0006g0224 a0001c0001t0006g0226 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0243 a0001c0001t0006g0244 a0001c0001t0006g0245 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0008g0193 a0001c0001t0008g0209 a0001c0001t0008g0210 a0001c0001t0008g0297 a0001c0001t0020g0214 a0001c0001t0020g0215 a0001c0001t0023g0188 a0001c0001t0025g0217 a0001c0001t0026g0365 a0001c0001t0033g0366 a0002c0002t0008g0207 a0002c0002t0012g0203 a0002c0002t0012g0204 a0002c0002t0012g0205 a0002c0002t0012g0206 a0002c0002t0034g0208	81	398	0.2035	13	c.371 others(30): Show c.371-5173_371-5172insTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18649326	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01928.hp2 HG02257.hp1 HG01243.hp1 HG01928.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0091	3	398	0.0075	13	c.477 others(32): Show c.477+21111_477+21123dupTTTTTTTTTTTTT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18753607	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03490.hp1 HG04204.hp2 others(5): Show HG03041.hp1 HG03490.hp1 HG04204.hp2 NA18949.hp2 NA18992.hp1 NA19000.hp1 NA19064.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017	a0001c0001t0001g0002 a0001c0001t0001g0253 a0001c0001t0001g0262 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0004g0218 a0001c0001t0006g0007 a0001c0001t0017g0213	8	398	0.0201	13	c.19 others(30): Show c.19+9339_*19+9351dupAAAAAAAAAAAAA	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTL_chr1_212030748_212110013	212051442	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18968.hp1 NA18986.hp1 HG00423.hp1 NA18968.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0221 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0221	3	364	0.0082	13	c.460 others(30): Show c.460+4057_460+4069dupTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DTNBP1_chr6_15517807_15668028	15553594	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02965.hp2 others(5): Show HG02559.hp2 HG02630.hp2 HG02965.hp2 HG03516.hp2 HG06807.hp1 NA18960.hp2 NA18964.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0084 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235	8	314	0.0255	13	c.512 others(32): Show c.512-20200_512-20199insAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	7/9			chr6	TogoVar
DTNBP1_chr6_15517807_15668028	15636157	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01255.hp1 HG02071.hp1 others(9): Show HG01192.hp2 HG01255.hp1 HG02071.hp1 HG02083.hp1 HG02145.hp2 HG02280.hp2 HG02572.hp2 HG02896.hp1 HG02976.hp2 HG03098.hp1 HG03579.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0208 a0001c0001t0002g0202 a0001c0001t0002g0203 others(9): Show a0001c0001t0001g0208 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0214 a0001c0001t0003g0291 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296	12	314	0.0382	13	c.222 others(30): Show c.222+1574_222+1586dupAAAAAAAAAAAAA	DTNBP1	ENSG00000047579.20	transcript	ENST00000344537.10	protein_coding	4/9			chr6	TogoVar
DTNB_chr2_25372243_25678577	25399350	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02965.hp1 others(1): Show HG02451.hp2 HG02486.hp1 HG02965.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0157 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0077 a0001c0001t0001g0157 a0001c0002t0001g0126	4	168	0.0238	13	c.157 others(34): Show c.1576-11002_1576-10990dupAAAAAAAAAAAAA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	16/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25427180	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	168	0.0060	13	c.155 others(30): Show c.1554+354_1554+355insGTGTGTGTGTGTG	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	15/20			chr2	TogoVar

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