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
WDR87_chr19_37879823_37911594	37881047	A A	ATATATTA others(181): Show ATATATTATATATATATATTATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATAATATATATATATATAATATATATA TATAATATATATATATAATATATATATATAATATATATATATATAATATA TATATTATATATATATTATATATATATAATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	147	0.0068	188	c.38 others(199): Show c.3884_*3885insAATATATATATTATATATATATAATATATATATA ATATATATATTATATATATATATATTATATATATATATTATATATATATA TTATATATATATATTATATATATATATATTATATATATATATTATATATA TATATATTATATATATATATTATATATATATATATAATATATATATATAA TATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	ATTATATA others(181): Show ATTATATATATTATATATATAATATATATAATATATATATTATATATATA ATATATATATTTAATATATATATTATATATATAATATATATATTTAATAT ATATATTATATATATAATATATATATTATATATATAATATATATAATATA TATATAATATATATATATTATATATATAATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0004 a0005c0005t0001g0004	1	134	0.0075	188	c.38 others(199): Show c.3842_*3843insATAATATATATTATATATATAATATATATATATT ATATATATATTATATATATTATATATATAATATATATATTATATATATAA TATATATATTAAATATATATATTATATATATAATATATATATTAAATATA TATATTATATATATAATATATATATTATATATATTATATATATAATATAT ATAA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3733		chr19	TogoVar
YTHDC2_chr5_113508694_113600284	113587256	T T	TATGTATT others(181): Show TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATAAATATATATTATGTATTCATATATAATATATAAATATATATTATG TATTCATATATAATATATAAATATATATTATGTATTCATATATAATATAT AAATATATATTATGTATTCATATATAATATATAAATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0054 a0003c0004t0002g0054	1	314	0.0032	188	c.382 others(207): Show c.3825+2778_3825+2965dupATGTATTCATATATAATATATAAATA TATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATAT ATAATATATAAATATATATTATGTATTCATATATAATATATAAATATATA TTATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAA TATATAAATATA	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
ZMYND8_chr20_47204214_47361699	47225596	A A	AGGAAGGG others(181): Show AGGAAGGGGAAGGGAGGGGAATGAAGGGGAAGGAAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA AGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGAAGGGAGGGGA GGAGGGAAAGGGAGGGCAGGGGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	39	0.0256	188	c.301 others(207): Show c.3017-1041_3017-1040insCCTCCCCTCCCCCTCCCCCCCTGCCC TCCCTTTCCCTCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTC CCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTC CCTTCCCCTCCCTTCCCCTCCCTTCCCCTTCCTTCCCCTTCATTCCCCTC CCTTCCCCTTCC	ZMYND8	ENSG00000101040.20	transcript	ENST00000471951.7	protein_coding	18/22			chr20	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATACG others(181): Show TATATACGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	166	0.0060	188	c.-46 others(199): Show c.-4681_-4680insATATACGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(181): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCATATATCTA TCTCATTATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	166	0.0060	188	c.-46 others(199): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCATATATCTATCTCATTATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(181): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATAT CTATCTCATATATATGTCCCATATATCTATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 NA19091.hp2 HG01192.hp1 NA19091.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0004 a0002c0002 a0005c0004	a0002c0002t0001 a0005c0004t0004 a0002c0002t0001 a0005c0004t0004	a0002c0002t0001g0004 a0005c0004t0004g0094 a0002c0002t0001g0004 a0005c0004t0004g0094	2	167	0.0120	188	c.-46 others(199): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATATCTATCTCATATATATGTCCCATATATCTATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(181): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCCCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00609.hp1 others(43): Show HG00323.hp2 HG00544.hp2 HG00609.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01258.hp1 HG01433.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02280.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18942.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18981.hp1 NA18985.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19054.hp1 NA19063.hp1 NA19063.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0004g0010 others(21): Show a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0004g0010 a0001c0001t0004g0078 a0001c0001t0018g0076 a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0046 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0001g0088	46	211	0.2180	188	c.-46 others(199): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCCCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62369791	T T	TATATATG others(181): Show TATATATGTCCCATATCTATCTCATATATATGTCCCATATATATCTATCT CATATATATGTCCCATATATATCTATCTCATATATATGTCGCATATATCT ATCTCATATATATGTCCCATATATACATATCTCATATATATGTCCCATAT ATACATATCTCATATATATGTCCCATATATACATATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA19088.hp1 NA18948.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0056 a0001c0001t0004g0058	2	167	0.0120	188	c.-46 others(199): Show c.-4681_-4680insATATATGTCCCATATCTATCTCATATATATGTCC CATATATATCTATCTCATATATATGTCCCATATATATCTATCTCATATAT ATGTCGCATATATCTATCTCATATATATGTCCCATATATACATATCTCAT ATATATGTCCCATATATACATATCTCATATATATGTCCCATATATACATA TCTC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		4577		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(181): Show CATATATATATCATATATATGAGATATATCTCATATATATATCATATATA TGAGATATATCTCATATATATATCATATATATGAGATATATCTCATATAT ATATCATATATATGAGATATATCTCATATATCTATCATATATATGAGATA TATCTCATATATCTATCATATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0008 a0001c0006t0002g0008	1	206	0.0049	188	c.-31 others(199): Show c.-3163_-3162insATATATATATCATATATATGAGATATATCTCATA TATATATCATATATATGAGATATATCTCATATATATATCATATATATGAG ATATATCTCATATATATATCATATATATGAGATATATCTCATATATCTAT CATATATATGAGATATATCTCATATATCTATCATATATATGAGATATATC TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(181): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGAGATATATCTCATATATATATCATATATATGAGATA TATCTCATATATCTATCATATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18992.hp2 HG00597.hp2 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0007 a0001c0001t0002 a0002c0002t0007	a0001c0001t0002g0008 a0002c0002t0007g0008 a0001c0001t0002g0008 a0002c0002t0007g0008	2	207	0.0097	188	c.-31 others(199): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGAGATATATCTCATATATATAT CATATATATGAGATATATCTCATATATCTATCATATATATGAGATATATC TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(181): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGAGATATATCTCATATATCTATCATATATATGAGATA TATCTCATATATCTATCATATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA19007.hp1 NA18965.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0138 a0001c0001t0002g0003 a0001c0001t0002g0138	2	207	0.0097	188	c.-31 others(199): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGAGATATATCTCATATATCTAT CATATATATGAGATATATCTCATATATCTATCATATATATGAGATATATC TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(181): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGAGATA TATCTCATATATATATCATATATATGAGATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	206	0.0049	188	c.-31 others(199): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGAGATATATCTCATATATATATCATATATATGAGATATATC TCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ZNF430_chr19_21015657_21065050	21019561	A A	AATATATA others(181): Show AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATAAAAATATATATAAATATATAAATATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	281	0.0036	188	c.-12 others(199): Show c.-1240_-1239insATATATAAATATATATATAAATATATATAAATAT ATAAATATATATATAAATATATATAAATATATAAATATATATATAAATAT ATATAAATATATAAATATATATAAAAATATATATAAATATATAAATATAT ATATATAAATATATATAAATATATATAAATATATAAATATATATATATAA ATAT	ZNF430	ENSG00000118620.13	transcript	ENST00000261560.10	protein_coding		1095		chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572377	T T	TATATACA others(181): Show TATATACACATATATATATATGTATATATATATATACACATATATATATA TGTATATATATATATACACATATATATATATGTATATATATATATACACA TATATATATATGTATATATATATATACACATATATATATATGTATATATA TATATACACATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0092 a0004c0005t0002g0092	1	325	0.0031	188	c.60+ others(203): Show c.60+2011_61-2011insCACATATATATATATGTATATATATATATA CACATATATATATATGTATATATATATATACACATATATATATATGTATA TATATATATACACATATATATATATGTATATATATATATACACATATATA TATATGTATATATATATATACACATATATATATATGTATATATATATATA CACATATA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(181): Show CATATATACATATATACACATATACATACATATATACATATATATACATA TACATACATATATATACATATATATACATATACATACATATATATACATA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA19004.hp1 NA19090.hp1 HG03942.hp1 NA19004.hp1 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0001c0001t0001 a0006c0006t0001	a0001c0001t0001g0003 a0006c0006t0001g0003 a0001c0001t0001g0003 a0006c0006t0001g0003	3	186	0.0161	188	c.-13 others(199): Show c.-1395_-1394insATATATACATATATACACATATACATACATATAT ACATATATATACATATACATACATATATATACATATATATACATATACAT ACATATATATACATATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAT ACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(181): Show CATATATATACATATATACACATATACATACATATATATACATATATACA TATACATACATATATATACATATATATACATATACATACATATATATACA TATATACATATACATACATATATATACATATATATACATATACATACATA TATATACATATATATACATATACATACATATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0012 a0007c0007t0012	a0007c0007t0012g0132 a0007c0007t0012g0132	1	184	0.0054	188	c.-13 others(199): Show c.-1395_-1394insATATATATACATATATACACATATACATACATAT ATATACATATATACATATACATACATATATATACATATATATACATATAC ATACATATATATACATATATACATATACATACATATATATACATATATAT ACATATACATACATATATATACATATATATACATATACATACATATATAT ACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF605_chr12_132913306_132961306	132954456	G G	GGGTGGGG others(181): Show GGGTGGGGAGGGGAGGAAAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGG TGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAAGGGG GAGAAGGGTGGGGGGAGAAGGGTAGGGAGGGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	124	0.0081	188	c.-28 others(207): Show c.-286+1786_-286+1787insTTCTCCTCCCCTCCCTACCCTTCTCC CCCCACCCTTCTCCCCCTTCCCCACCCTTCTCCCCCCCTCCCCACCCTTC TCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTTTCCT CCCCTCCCCACC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ZNF618_chr9_113871309_114061593	113951403	G G	GTATATAT others(181): Show GTATATATACACACATATATGTGTGTATATATATACACACACACATATAT GTGTGTGTGTGTGTATATATATACACACATATATGTGTGTATATATATAC ACACACACATATATGTGTGTGTGTGTATATATATACACACATATGTGTGT GTATATATATACACACACACATATATGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18995.hp2 NA19001.hp2 HG00741.hp2 NA18995.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0008 a0001c0002t0021 a0001c0001t0005 a0001c0001t0008 a0001c0002t0021	a0001c0001t0005g0088 a0001c0001t0008g0135 a0001c0002t0021g0087 a0001c0001t0005g0088 a0001c0001t0008g0135 a0001c0002t0021g0087	3	203	0.0148	188	c.34- others(205): Show c.34-17689_34-17688insATATATATACACACACACATATATGTGT GTGTGTGTGTATATATATACACACATATATGTGTGTATATATATACACAC ACACATATATGTGTGTGTGTGTATATATATACACACATATGTGTGTGTAT ATATATACACACACACATATATGTGTGTGTGTGTATATATATACACACAT ATATGTGTGT	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABCC1_chr16_15944616_16148053	15999836	C C	CTCTCTGT others(182): Show CTCTCTGTCTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0161 a0001c0003t0003g0161	1	104	0.0096	189	c.49- others(204): Show c.49-7977_49-7976insCTGTCTCTTTCTTTCTTTCTTTCTTTCTTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(182): Show TAATATACATATATATATATTATATATACATATATATATATTATATATAT ACATATATATATTATATATATATACATATATATATTATATATATATACAT ATATATATTATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	277	0.0036	189	c.497 others(206): Show c.497+7160_497+7161insATATACATATATATATATTATATATACA TATATATATATTATATATATACATATATATATTATATATATATACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(182): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATACATATATATATTATATATATACACAT ATATATATTATATATATACACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0178 a0001c0001t0005g0178	1	277	0.0036	189	c.497 others(206): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATACATATA TATATTATATATATACACATATATATATTATATATATACACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(182): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATACATATATATATTATATATATATACAT ATATATATTATATATATACACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0139 a0001c0001t0059g0139	1	277	0.0036	189	c.497 others(206): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATACATATA TATATTATATATATATACATATATATATTATATATATACACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(182): Show TAATATACATATATATATATTATATATATACATATATATATATTATATAT ATACATATATATATTATATATATACATATATATATTATATATATATACAT ATATATATTATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp2 HG02056.hp1 others(2): Show HG00423.hp2 HG02015.hp2 HG02056.hp1 HG04228.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0057 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0057 a0001c0001t0060	a0001c0001t0005g0167 a0001c0001t0007g0153 a0001c0001t0007g0154 others(2): Show a0001c0001t0005g0167 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0057g0329 a0001c0001t0060g0170	5	281	0.0178	189	c.497 others(206): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATATTATATATATACATATATATATTATATATATACATATA TATATTATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER3_chr11_76855918_77031797	77005980	T T	TAATATAC others(182): Show TAATATACATATATATATATTATATATATACATATATATATTATATATAT ACATATATATATTATATATATATACATATATATTATATATATATATACAT ATATATATTATATATATATACATATATATATTATATATATATACATATAT ATATTATATATATATACATATATATATTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	277	0.0036	189	c.497 others(206): Show c.497+7160_497+7161insATATACATATATATATATTATATATATA CATATATATATTATATATATACATATATATATTATATATATATACATATA TATTATATATATATATACATATATATATTATATATATATACATATATATA TTATATATATATACATATATATATTATATATATATACATATATATATTAT ATATATATACA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACOT1_chr14_73532143_73548796	73546924	T T	TAAAAATA others(182): Show TAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00738.hp2 others(13): Show HG00639.hp2 HG00733.hp2 HG00738.hp2 HG01071.hp2 HG01081.hp2 HG01169.hp1 HG01928.hp2 HG01934.hp1 HG02257.hp1 HG02602.hp1 HG03492.hp1 HG03654.hp2 HG04228.hp1 NA19079.hp1 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	16	142	0.1127	189	c.32 others(200): Show c.3269_*3270insAAAAATACAAAAATTTAGCCGGGCGAGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCC AGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAA	ACOT1	ENSG00000184227.8	transcript	ENST00000311148.9	protein_coding		3129		chr14	TogoVar
ADAMTS3_chr4_72275969_72574221	72400240	C C	CGTGTGCA others(182): Show CGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAGATAT ACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTAT ATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATA GATATACACACGGTGTGTATATATACGTGTGCATAGATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG02630.hp2 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0007 a0001c0004t0005g0008 a0001c0004t0005g0007 a0001c0004t0005g0008	2	180	0.0111	189	c.661 others(208): Show c.661+14574_661+14575insATATCTATGCACACGTATATATACAC ACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCT ATGCACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATA TACACACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTA TATCTATGCACAC	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATACGTG others(182): Show TATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTGCATAG ATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTGT GTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGTG CATAGATATACACACGGTGTGTATATATACGTGTGCATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0023 a0003c0005t0023	a0003c0005t0023g0035 a0003c0005t0023g0035	1	33	0.0303	189	c.661 others(208): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATATCTATGCACACGTATATATACA CACCGTGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATC TATGCACACGTAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS6_chr5_65143738_65486920	65230303	T T	TATATGAA others(182): Show TATATGAAATATATATATAATACATTATATATATGAAATATATATATAAT ACATTATATATATGAAATATATATAATACATTATATATATGAAATATATA TAATACATGATATATATGAAATATATATAATACATGATATATATGAAATA TATATAATACATGATATATATGAAATATATATAATACATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	201	0.0050	189	c.193 others(208): Show c.1934-4085_1934-4084insCATGTATTATATATATTTCATATATA TCATGTATTATATATATTTCATATATATCATGTATTATATATATTTCATA TATATCATGTATTATATATATTTCATATATATAATGTATTATATATATTT CATATATATAATGTATTATATATATATTTCATATATATAATGTATTATAT ATATATTTCATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230421	A A	ATATATAT others(182): Show ATATATATAATACATTATATATATGAAGTATATATAATACATTATATATA TGAAGTATATATAATACATTATATATATGAAGTATATATAATACATTATA TATATGAAGTATATATAATACATTATATATATGAAGTATATATAATACAT TATATATATGAAGTATATATAATACATTATATATATGAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	177	0.0056	189	c.193 others(208): Show c.1934-4203_1934-4202insCTTCATATATATAATGTATTATATAT ACTTCATATATATAATGTATTATATATACTTCATATATATAATGTATTAT ATATACTTCATATATATAATGTATTATATATACTTCATATATATAATGTA TTATATATACTTCATATATATAATGTATTATATATACTTCATATATATAA TGTATTATATATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83903952	G G	GGAAGGAA others(182): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0032 a0032	a0032c0050 a0032c0050	a0032c0050t0001 a0032c0050t0001	a0032c0050t0001g0003 a0032c0050t0001g0003	1	270	0.0037	189	c.170 others(208): Show c.1700+4221_1700+4222insGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGGGAAGGGA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	15/29			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1592230	A A	ACATGGTC others(182): Show ACATGGTCCCCTCTGTCACCCAGCTCCCCTGGCCCAAGCCACACTCTGTA GGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGATTCACTCACCCAA GCCACGCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGA TTCACTCACCCAAGCCACCCTCCATAGGTCTCCTCTCTGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp2 HG01081.hp2 others(24): Show HG00408.hp1 HG00639.hp2 HG01081.hp2 HG02027.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG04184.hp2 NA18522.hp2 NA18945.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19043.hp1 NA19070.hp2 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0008c0008	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(23): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0022 a0001c0001t0023 a0001c0001t0054 a0001c0001t0056 a0001c0001t0059 a0001c0003t0009 a0001c0003t0045 a0001c0007t0033 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0027 a0002c0002t0048 a0002c0002t0053 a0002c0002t0062 a0002c0002t0064 a0002c0002t0065 a0002c0004t0028 a0008c0008t0016	a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0013g0007 others(24): Show a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0018g0027 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0045g0057 a0001c0007t0033g0041 a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0007g0002 a0002c0002t0008g0042 a0002c0002t0026g0032 a0002c0002t0027g0021 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0028g0020 a0008c0008t0016g0003	27	104	0.2596	189	c.100 others(210): Show c.100+144820_100+144821insCCAGAGAGGAGACCTATGGAGGGT GGCTTGGGTGAGTGAATCTGGGTGACAGAGGGGACCATGCCAGAGAGGAG ACCTATGGAGCGTGGCTTGGGTGAGTGAATCTGGGTGACAGAGGGGACCA TGCCAGAGAGGAGACCTACAGAGTGTGGCTTGGGCCAGGGGAGCTGGGTG ACAGAGGGGACCATG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1592230	A A	ACATGGTC others(182): Show ACATGGTCCCCTCTGTCACCCAGCTCCCCTGGCCCAAGCCACACTCTGTA GGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGATTCACTCACCCAA GCCACGCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGA TTCACTCACCCAAGCCACCCTCCGTAGGTCTCCTCTCTGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04184.hp1 HG02735.hp2 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0001c0001t0009 a0002c0002t0002	a0001c0001t0009g0054 a0002c0002t0002g0066 a0001c0001t0009g0054 a0002c0002t0002g0066	2	79	0.0253	189	c.100 others(210): Show c.100+144820_100+144821insCCAGAGAGGAGACCTACGGAGGGT GGCTTGGGTGAGTGAATCTGGGTGACAGAGGGGACCATGCCAGAGAGGAG ACCTATGGAGCGTGGCTTGGGTGAGTGAATCTGGGTGACAGAGGGGACCA TGCCAGAGAGGAGACCTACAGAGTGTGGCTTGGGCCAGGGGAGCTGGGTG ACAGAGGGGACCATG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1592487	G G	GTCCCCTC others(182): Show GTCCCCTCTGTCACCCAGATTCACTCACCCAAGCCACCCTCCATAGGTCT CCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCACCCAAGCCAC CCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCC TTGCCCAAGCCACCCTCCATAGGTCTCTTCTCTGGCATGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0006 a0005c0010t0006	a0005c0010t0006g0014 a0005c0010t0006g0014	1	106	0.0094	189	c.100 others(210): Show c.100+144563_100+144564insTCATGCCAGAGAAGAGACCTATGG AGGGTGGCTTGGGCAAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAG AGGAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGG GACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGAGTGAATCT GGGTGACAGAGGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1592850	T T	TTCCTCTC others(182): Show TTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCACCCAAGCC ACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTAC CCTCGCCCAAGCCACGCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCT GTCACCCAGCTTCCCTTGCCCAAGCCACCCTCCATAGGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG02055.hp2 others(13): Show HG01243.hp2 HG01433.hp1 HG02055.hp2 HG02083.hp2 HG02258.hp2 HG02602.hp2 HG02630.hp2 HG02683.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp2 HG03669.hp1 HG03669.hp2 NA18988.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005 a0010c0012 a0011c0011	a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 others(12): Show a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0031 a0001c0003t0001 a0001c0003t0060 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0042 a0002c0002t0044 a0002c0002t0046 a0004c0005t0002 a0010c0012t0007 a0011c0011t0034	a0001c0001t0010g0025 a0001c0001t0017g0030 a0001c0001t0019g0038 others(13): Show a0001c0001t0010g0025 a0001c0001t0017g0030 a0001c0001t0019g0038 a0001c0001t0031g0059 a0001c0003t0001g0070 a0001c0003t0060g0104 a0002c0002t0004g0101 a0002c0002t0005g0012 a0002c0002t0005g0028 a0002c0002t0006g0011 a0002c0002t0042g0061 a0002c0002t0044g0049 a0002c0002t0046g0056 a0004c0005t0002g0039 a0010c0012t0007g0006 a0011c0011t0034g0076	16	24	0.6667	189	c.100 others(210): Show c.100+144200_100+144201insGACCTATGGAGGGTGGCTTGGGCA AGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAG CGTGGCTTGGGCGAGGGTAGCTGGGTGACAGAGGGGACCATGCCAGAGAG GAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGA CCATGCCAGAGAGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1592891	A A	ACCCAAGC others(182): Show ACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCA CCCAGCTACCCTCGCCCAAGCCACGCTCCATAGGTCTCCTCTCTGGCATG GTCCCCTCTGTCACCCAGCTTCCCTTGCCCAAGCCACCCTCCATAGGTCT CCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0036 a0001c0001t0025g0036	1	88	0.0114	189	c.100 others(210): Show c.100+144159_100+144160insCAAGGGAAGCTGGGTGACAGAGGG GACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGCAAGGGAAGCT GGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGCGTGGCTTG GGCGAGGGTAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTAT GGAGGGTGGCTTGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ALLC_chr2_3653200_3707671	3690353	T T	TCCCCCTC others(182): Show TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	262	0.0038	189	c.512 others(206): Show c.512-5360_512-5359insCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
AMN_chr14_102917663_102935842	102919700	C C	CCCATCTA others(182): Show CCCATCTATCCCCATTCACCATCCACCATCACCTTCCATCCATCTACCAT CCATCATCCAACACCCATCTATCCCTATTCACCATCCACCATCACCTTCC ATCCATCTACCATCCATCATCCAACACCCATCTATCCCTATTCACCATCC ACCATCACCTTCCATCCATCCACCATCTATCATCCACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	265	0.0038	189	c.-29 others(200): Show c.-2989_-2988insCCATCTATCCCCATTCACCATCCACCATCACCTT CCATCCATCTACCATCCATCATCCAACACCCATCTATCCCTATTCACCAT CCACCATCACCTTCCATCCATCTACCATCCATCATCCAACACCCATCTAT CCCTATTCACCATCCACCATCACCTTCCATCCATCCACCATCTATCATCC ACCAT	AMN	ENSG00000166126.11	transcript	ENST00000299155.10	protein_coding		2962		chr14	TogoVar
ANKS1B_chr12_98738974_99989936	99387860	T T	TAAGAATT others(182): Show TAAGAATTGTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	42	0.0238	189	c.175 others(210): Show c.1756+11770_1756+11771insGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATTACAATTCTT	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	12/26			chr12	TogoVar
ANO9_chr11_412938_447011	428965	C C	CCCCACAC others(182): Show CCCCACACGTGGGGAGACAGACACAGGGACATGCCTCACGGGTGGACAGA CACGGGACACTCATCCCACACGTGGGGAGACAGACACAGGGACACGCCTC ACGGGTGGACAGACACGGGACACTCACACCACACGTGGGGAGACAGACAC AGGGACACGCCTCACGGGTGGACAGACACGGGACACTCAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	284	0.0035	189	c.916 others(204): Show c.916-140_916-139insATGAGTGTCCCGTGTCTGTCCACCCGTGAG GCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGTGTGAGTGTCCCGTGTCT GTCCACCCGTGAGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGATGA GTGTCCCGTGTCTGTCCACCCGTGAGGCATGTCCCTGTGTCTGTCTCCCC ACGTGTGGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	11/22			chr11	TogoVar
ANXA2R_chr5_43034371_43045319	43043810	T T	TATATAAT others(182): Show TATATAATATATAATATATATAATATATTATATAATATATAATATATATA ATATATTATATAATATATAATATATATAATATATTATATAATATATAATA TATATAATATATTATATAATATATAATATATATAATATATTATATAATAT ATATAATATATAATATATTATATAATATATAATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	291	0.0034	189	c.-37 others(200): Show c.-3765_-3764insTATATATATTATATATTATATAATATATTATATA TTATATATATTATATAATATATTATATATATTATATATTATATAATATAT TATATATATTATATATTATATAATATATTATATATATTATATATTATATA ATATATTATATATATTATATATTATATAATATATTATATATATTATATAT TATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3492		chr5	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(182): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	192	0.0052	189	c.102 others(206): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCT CCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043558	C C	CTCCCCCC others(182): Show CTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCC CCTCCCGCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	72	0.0139	189	c.102 others(206): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCGCTCCCCCTCCCCCTCCCCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCT	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9			chr3	TogoVar
ART1_chr11_3640128_3669416	3653752	G G	GCCCATCA others(182): Show GCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTCTCTATC CTCACTGCCATTCTCCCATAAGACATCAAGTCTTGTAAATTCCACCTCCT ACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTA AATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp2 HG03516.hp2 others(1): Show HG02970.hp1 HG03098.hp2 HG03516.hp2 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	4	380	0.0105	189	c.-52 others(206): Show c.-52-5368_-52-5367insCTCTATCCTCACTGCCATTCTCCCATAA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3653862	A A	ATCCTCAC others(182): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG03195.hp1 others(1): Show HG02145.hp1 HG02258.hp2 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099	4	239	0.0167	189	c.-52 others(206): Show c.-52-5298_-52-5110dupCCTCACTGCCATTCTCCCATCAGACATC AAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCT CCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCC TCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTA CCTCTGTCTGT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654179	C C	CCTCACTG others(182): Show CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATTCTCCCATCAGA CATCAAGTCTTGTAAATTCCAACTCCTACCTCTGTCTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	390	0.0026	189	c.-52 others(206): Show c.-52-4923_-52-4922insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCAACTCCTACCTCTGTCTGT ACTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654224	C C	CCTCCTAC others(182): Show CCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGT CTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCA TCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCAC TGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03516.hp1 HG02922.hp1 HG02976.hp2 HG03516.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0014 a0008c0013 a0001c0001 a0001c0014 a0008c0013	a0001c0001t0001 a0001c0014t0001 a0008c0013t0001 a0001c0001t0001 a0001c0014t0001 a0008c0013t0001	a0001c0001t0001g0147 a0001c0014t0001g0121 a0008c0013t0001g0132 a0001c0001t0001g0147 a0001c0014t0001g0121 a0008c0013t0001g0132	3	345	0.0087	189	c.-52 others(206): Show c.-52-4860_-52-4859insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCAACTCCTACCTCTGTCTAT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654240	A A	ATCCTCAC others(182): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTACTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATTCTCCCATCA GACATCAAGTCTTCTAAATTCCAACTCCTACCTCTGTCTC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	340	0.0029	189	c.-52 others(206): Show c.-52-4860_-52-4859insGTACTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATT CTCCCATCAGACATCAAGTCTTCTAAATTCCAACTCCTACCTCTGTCTCT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654366	G G	GTCCTCAC others(182): Show GTCCTCACTGCCATTCTCCCATCACACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	292	0.0034	189	c.-52 others(206): Show c.-52-4773_-52-4772insCACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTCTCCTCACTGCCA TTCTCCCATCA	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654562	C C	CTGCCATT others(182): Show CTGCCATTCTCCCATCAGATATCAAGTCTTGTAAATTCCACCTCCTACCT CTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATT CCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCAATCAGACATCA AGTCTTGTAAATTCCAACTCCTACCTCTGTCTATCCTCAT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	308	0.0032	189	c.-52 others(206): Show c.-52-4582_-52-4581insTATCAAGTCTTGTAAATTCCACCTCCTA CCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAA ATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCAATCAGACA TCAAGTCTTGTAAATTCCAACTCCTACCTCTGTCTATCCTCATTGCCATT CTCCCATCAGA	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar

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