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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(179): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATGCATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02074.hp1 HG02080.hp2 others(1): Show HG00673.hp2 HG02074.hp1 HG02080.hp2 NA18991.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0005 a0001c0001 a0003c0003 a0004c0005	a0001c0001t0002 a0003c0003t0002 a0004c0005t0002 a0001c0001t0002 a0003c0003t0002 a0004c0005t0002	a0001c0001t0002g0057 a0001c0001t0002g0058 a0003c0003t0002g0253 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0058 a0003c0003t0002g0253 a0004c0005t0002g0264	4	292	0.0137	186	c.51 others(197): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATATTTATATGCATATAAATATATATATTTATATGTATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT AT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4410		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998863	T T	TATATTTA others(179): Show TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATGCATATAAATATATATATTTATATGCATATAAATATATATATT TATATGCATATAAATATATATATTTATATACATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0235 a0004c0005t0002g0235	1	292	0.0034	186	c.51 others(197): Show c.5188_*5189insTTATATGTATATAAATATATATATTTATATGCAT ATAAATATATATATTTATATGCATATAAATATATATATTTATATGCATAT AAATATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT AT		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4410		chr13	TogoVar
FLT3_chr13_27998274_28105576	28065645	G G	GTAATAAT others(179): Show GTAATAATAATAATAATAATAATAATAATAATAATCCAGGTGTGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTG AGCCTAGGAGGTTGAGGCTGAAGTGAGCTATGTTTGTGTCACTGCACTCC AGCCTGGACAACGGAGCGAGATCTTGTCTCAAAGTAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01192.hp2 others(2): Show HG01074.hp1 HG01074.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0004c0006 a0008c0016 a0001c0001 a0004c0006 a0008c0016	a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0006t0001 a0008c0016t0002	a0001c0001t0001g0013 a0001c0001t0002g0090 a0004c0006t0001g0209 others(2): Show a0001c0001t0001g0013 a0001c0001t0002g0090 a0004c0006t0001g0209 a0008c0016t0002g0035 a0008c0016t0002g0154	5	292	0.0171	186	c.166 others(203): Show c.166-3577_166-3576insTTACTTTGAGACAAGATCTCGCTCCGTT GTCCAGGCTGGAGTGCAGTGACACAAACATAGCTCACTTCAGCCTCAACC TCCTAGGCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCACACCTGGATTATTATTATTATTATTATTATTAT TATTATTA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding	2/23						chr13	TogoVar
FOXN3_chr14_89151177_89422233	89360937	C C	CCACCTCC others(179): Show CCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCC AGCACCACCTCCACCACTACCACCTCCACCACCACCACCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACTA CCACCTCCACCACCACCTCCACCACCACCACCTCCAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	230	0.0044	186	c.544 others(205): Show c.544-10130_544-10129insCTGGAGGTGGTGGTGGTGGAGGTGGT GGTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGG TGGTGCTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTAGTGGTG GAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGT GGTGGAGGTG		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GABRA3_chrX_152161234_152456315	152275216	A A	ATATATAT others(179): Show ATATATATAATTTATATTTAATATTATATATATAATTTATATATATTTAA TATTATATATATAATTTATATTTAATATTATATATATAATTTATATATAT TTATTATATATATAATTTATATATATTTAATATTATATATATAATTTATA TATATAATATTATATATATAATTTATATATATAATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	204	0.0049	186	c.330 others(203): Show c.330+9451_330+9452insATATTATATATATAAATTATATATATAA TATTATATATATAAATTATATATATAATATTAAATATATATAAATTATAT ATATAATAAATATATATAAATTATATATATAATATTAAATATAAATTATA TATATAATATTAAATATATATAAATTATATATATAATATTAAATATAAAT TATATATA		GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	4/9						chrX	TogoVar
GABRB3_chr15_26538552_26778066	26716783	G G	GACAGCCC others(179): Show GACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	204	0.0049	186	c.240 others(205): Show c.240+55618_240+55619insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716783	G G	GACAGCCC others(179): Show GACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	204	0.0049	186	c.240 others(205): Show c.240+55618_240+55619insGGTTGGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGG TTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGT		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8						chr15	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(179): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCAACCCCCCCCACCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTC CGCACTGCCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG CACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	390	0.0026	186	c.145 others(203): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGC GCAGGTGAGCGGGGTGGGGGGGGTTGCGGGGCAGTGCGGAGCGCAGGTGA GCGGGGAG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAK_chr4_844277_937316	926962	C C	CGCTCACC others(179): Show CGCTCACCTGCAGTCCGCACTGCCCCCGCACCCCTCCCCGCTCACCTGCA GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCCC GCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0369 a0003c0006t0001g0369	1	390	0.0026	186	c.145 others(203): Show c.145+5080_145+5081insCGGGAGGGTTGCCGGGCAGTGCGGAGCG CAGGTGAGCGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGG AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGGCAGTGCGGACTGC AGGTGAGC		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAK_chr4_844277_937316	927060	C C	CCGCACCC others(179): Show CCGCACCCCTCCCAGCTCACCTGCGCTCCGCACTGCCCCGCAACCCTCCC CCGCTCACCTGCGCTCCGCACTGCCCGGCAACCCTCCCGGCTCACCTGCG GTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCGGTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCGGTCCCCACTGCCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19082.hp2 NA18959.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0346 a0003c0006t0001g0371 a0001c0001t0001g0346 a0003c0006t0001g0371	2	390	0.0051	186	c.145 others(203): Show c.145+4982_145+4983insAGGCAGTGGGGACCGCAGGTGAGCCGGG AGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCCGGGAGGGGTGCGGGGC AGTGCGGACCGCAGGTGAGCCGGGAGGGTTGCCGGGCAGTGCGGAGCGCA GGTGAGCGGGGGAGGGTTGCGGGGCAGTGCGGAGCGCAGGTGAGCTGGGA GGGGTGCG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GAK_chr4_844277_937316	927122	G G	GTCCGCAC others(179): Show GTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCC CGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCCGCACCCCTCCC AGCTCACCTGCGCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGC TCCGCACTGCCCCGCACCCCTCCCGGCTCACCAGCGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0250 a0001c0005t0002g0250	1	390	0.0026	186	c.145 others(203): Show c.145+4920_145+4921insGCGCTGGTGAGCCGGGAGGGGTGCGGGG CAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGCGC AGGTGAGCTGGGAGGGGTGCGGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGA		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27						chr4	TogoVar
GJB3_chr1_34776214_34791364	34777607	C C	CCACAACC others(179): Show CCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCAT CATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGCCTC CCACACCACCCCAGCCACCTCCATCATCACACACATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0006 a0001c0003t0004g0006	1	444	0.0023	186	c.-41 others(197): Show c.-4197_-4196insCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAACCACA CATGCACACAGCCTCCCACACCACCCCAGCCACCTCCATCATCACACACA TT		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3606		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(179): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCATCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	186	c.-41 others(197): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCATCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(179): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0005 a0008c0013t0005	a0008c0013t0005g0001 a0008c0013t0005g0001	1	444	0.0023	186	c.-41 others(197): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(179): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	444	0.0023	186	c.-41 others(197): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(179): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCATCTCCATCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	186	c.-41 others(197): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCATCTCCATCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777667	A A	ATTCACAA others(179): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCACCATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	444	0.0023	186	c.-41 others(197): Show c.-4137_-4136insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACA CG		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3546		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(179): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0006 a0001c0003t0004g0006	1	444	0.0023	186	c.-40 others(197): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CG		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(179): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG03209.hp2 HG01934.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0017 a0001c0001t0003 a0001c0001t0017	a0001c0001t0003g0002 a0001c0001t0017g0015 a0001c0001t0003g0002 a0001c0001t0017g0015	2	444	0.0045	186	c.-40 others(197): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CG		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(179): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0001 a0001c0001t0014g0001	1	444	0.0023	186	c.-40 others(197): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CG		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(179): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	186	c.-40 others(197): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CG		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCACC others(179): Show TCTCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACACACTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	1	444	0.0023	186	c.-40 others(197): Show c.-4030_-4029insCTCCACCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATC ACACACACTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCGCC others(179): Show TCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCGCCATCACACACGTTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	186	c.-40 others(197): Show c.-4030_-4029insCTCCGCCATCACACACGTTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACGTTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC AC		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777779	G G	GCCATCAC others(179): Show GCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCGCCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03831.hp1 HG03654.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	2	444	0.0045	186	c.-40 others(197): Show c.-4025_-4024insCCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC CA		GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding					3434		chr1	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(179): Show TTATATATATATATATATAATGGATTATATATATATAATGGATTATATAT ATATATATAATGGATTATATATATATAATGGATTATATATATATATATAA TGGATTATATATATATATATATATATAATGGATTATATATATATATAATG GATTATATATATATATATATATATAATGGATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0148	1	360	0.0028	186	c.23 others(197): Show c.2379_*2380insTATATATATATATATATAATGGATTATATATATA TAATGGATTATATATATATATATAATGGATTATATATATATAATGGATTA TATATATATATATAATGGATTATATATATATATATATATATAATGGATTA TATATATATATAATGGATTATATATATATATATATATATAATGGATTATA TA		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding					853		chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620055	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCT TCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03139.hp2 HG01891.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0207 a0001c0001t0002g0128 a0001c0001t0002g0207	2	436	0.0046	186	c.40 others(197): Show c.4041_*4042insATGGGGGAGAAGGGGGAGTAGGGGGAGAAGGGGG AGAAGGGGGAGACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAG AGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTA GGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGG AG		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3592		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135620055	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCT TCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02572.hp2 HG02622.hp1 others(6): Show HG00741.hp2 HG02572.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03516.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0013 a0001c0001 a0001c0005 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0002 a0005c0013t0002	a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0168 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0002g0217 a0001c0001t0003g0153 a0001c0005t0002g0130 a0005c0013t0002g0100 a0005c0013t0002g0112	9	436	0.0206	186	c.40 others(197): Show c.4041_*4042insATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGGGG AGAAGGGGGAGACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAG AGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTA GGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGG AG		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3592		chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135620109	A A	ACTCCCCC others(179): Show ACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTC TACTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCGTCTCCCCCATCTC CCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCT ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	436	0.0023	186	c.39 others(197): Show c.3987_*3988insACTGGGCAGACAGGGGAGACGGGGGAGAAGGGGG AGTAGGGGGAGAAGGGTGAGAAGGGGGAGATGGGGGAGACGGGAGAGACG GGGGAGATGGGGGAGACGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGA GTAGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGG AG		GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding					3538		chr9	TogoVar
GMDS_chr6_1618806_2250605	1898047	T T	TCCCTTGC others(179): Show TCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACA CCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGCCTCCCTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03834.hp2 NA20752.hp2 HG03704.hp2 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0065 a0001c0002t0001g0129 a0001c0002t0002g0077 a0001c0002t0001g0065 a0001c0002t0001g0129 a0001c0002t0002g0077	3	166	0.0181	186	c.771 others(205): Show c.771+32055_771+32056insTGGCCAGGATAGGTGTCCAGGATGGC AAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGT GTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGG ATGGCAAGGG		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1898101	T T	TCCTGGCC others(179): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCAT CCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	166	0.0060	186	c.771 others(205): Show c.771+32001_771+32002insGTAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGA TGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCCAGGAT AGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAG GGAGGCCAGG		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466606	G G	GGAGCAGG others(179): Show GGAGCAGGAGGAGAAGATACGGGAGCAGAAGGAGAAGATACGAGAGCAGG AGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAAGAGAAG ATGCAAGAACAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAGGGAGCA GGAGGAGAAGATACGGGAGCAGAAGGAGAAGATACGA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18978.hp1 NA19064.hp2 NA18978.hp1 NA19064.hp2	a0019 a0019	a0019c0018 a0019c0018	a0019c0018t0001 a0019c0018t0001	a0019c0018t0001g0001 a0019c0018t0001g0001	2	226	0.0089	186	c.235 others(195): Show c.2355_2356insGAGAAGATACGGGAGCAGAAGGAGAAGATACGAGAG CAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGAAGA GAAGATGCAAGAACAGGAGAAGATGCGGAGGCAGGAGGAGAAGATAAGGG AGCAGGAGGAGAAGATACGGGAGCAGAAGGAGAAGATACGAGAGCAGGAG	p.Glu others(199): Show p.Glu785_Lys786insGluLysIleArgGluGlnLysGluLysIleAr gGluGlnGluGluMetMetGlnGluGlnGluGluLysMetGlyGluGlnG luGluLysMetGlnGluGlnGluLysMetArgArgGlnGluGluLysIle ArgGluGlnGluGluLysIleArgGluGlnLysGluLysIleArgGluGl nGlu	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2447/4401	2356/2565	786/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L24_chr15_28342851_28363084	28350713	C C	CTCCTGCT others(179): Show CTCCTGCTCCCCCATCTTCTCTTCCTGTTCCTGCATCATCTCCTCCTGCT CTCGTATCTTCTCCTCCTGCTCCCATATCTTCTCCTCCTGCTCCCGTATC TTCTCCTTCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTC CTGCCTCCGCATCTTCTCCTGTTCTTGCATCTTCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18950.hp1 NA19070.hp1 NA19087.hp2 NA18950.hp1 NA19070.hp1 NA19087.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0019 a0012c0013t0002g0075 a0012c0013t0002g0019 a0012c0013t0002g0075	3	200	0.0150	186	c.185 others(195): Show c.1851_2036dupAGAGAAGATGCAAGAACAGGAGAAGATGCGGAGGCA GGAGGAGAAGATAAGGGAGCAGGAGGAGAAGATACGGGAGCAGAAGGAGA AGATACGGGAGCAGGAGGAGAAGATATGGGAGCAGGAGGAGAAGATACGA GAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGGGGGAGCAGGA	p.Glu others(199): Show p.Glu679_Glu680insGluLysMetGlnGluGlnGluLysMetArgAr gGlnGluGluLysIleArgGluGlnGluGluLysIleArgGluGlnLysG luLysIleArgGluGlnGluGluLysIleTrpGluGlnGluGluLysIle ArgGluGlnGluGluMetMetGlnGluGlnGluGluLysMetGlyGluGl nGlu	GOLGA6L24	ENSG00000237850.8	transcript	ENST00000568624.2	protein_coding	8/9	2097/4304	2036/2499	679/832			chr15	TogoVar
GPC6_chr13_93221807_94413020	93796910	G G	GTTTCATC others(179): Show GTTTCATCCGTTTCTGGTATCAACAAAATCAAAGCATCTAACTTTTTCAA ACACAAAGGGATGAATTGTGAATACCTGCTGAATTTCCACAAGTCAACAA CCTAACAAAACCACAAAAAAAGACGAGGTAACTTTTTTCTTAAGTGAAAA GTAGCCTAACACTAGAAAAGAGAACATTTATTTCTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG01496.hp2 others(22): Show HG01074.hp2 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG02451.hp2 HG02647.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp2 NA19012.hp2 NA19043.hp2 NA19091.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0029 a0001c0001t0034 a0001c0003t0011 a0001c0003t0014 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0003c0004t0003	a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0003g0065 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0003g0065 a0001c0001t0004g0042 a0001c0001t0005g0050 a0001c0001t0005g0057 a0001c0001t0006g0072 a0001c0001t0007g0052 a0001c0001t0008g0060 a0001c0001t0009g0038 a0001c0001t0011g0010 a0001c0001t0013g0030 a0001c0001t0015g0048 a0001c0001t0016g0018 a0001c0001t0020g0061 a0001c0001t0022g0040 a0001c0001t0025g0066 a0001c0001t0029g0007 a0001c0001t0034g0076 a0001c0003t0011g0015 a0001c0003t0014g0021 a0002c0002t0002g0049 a0002c0002t0003g0011 a0002c0002t0014g0022 a0003c0004t0003g0058	25	76	0.3290	186	c.320 others(205): Show c.320-33210_320-33209insATCTAACTTTTTCAAACACAAAGGGA TGAATTGTGAATACCTGCTGAATTTCCACAAGTCAACAACCTAACAAAAC CACAAAAAAAGACGAGGTAACTTTTTTCTTAAGTGAAAAGTAGCCTAACA CTAGAAAAGAGAACATTTATTTCTGTTTTCATCCGTTTCTGGTATCAACA AAATCAAAGC		GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683361	T T	TATATGTT others(179): Show TATATGTTCATATATATATATGTTCATATATATGTTCATATATATATGTT CATATATATGTATGTTCATATATATATGTACATATATATGTTCATATATG TATGTTCATATATATATGTACATATATATGTTCATATATGTATGTTCATA TATATATGTACATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18950.hp1 HG00544.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0175 a0001c0001t0001g0180	2	234	0.0086	186	c.143 others(203): Show c.143+2180_143+2181insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATAT		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683399	T T	TATATATA others(179): Show TATATATATGTACATATATATGTTCATATATGTATGTTCATATATATATG TACATATATATGTTCATATATGTATGTTCATATATATATGTACATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATATGTTCATATATATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	234	0.0043	186	c.143 others(203): Show c.143+2222_143+2223insGTACATATATATGTTCATATATGTATGT TCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATAT ATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTC ATATATAT		GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr14	TogoVar
GRP_chr18_59215158_59235771	59233720	A A	ACATGATA others(179): Show ACATGATATATAATATGTTATATAATATATAATATAATATATGATATATC ACATGTTATATAATATATAATATATTATATAATATATTATATAACATATG ATATATCATATATTATATAACAAGTTATATAACATATAACATATTATATA ACATGCTATATAACATATAACATGTTATATAACATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03486.hp1 NA20300.hp2 HG03098.hp2 HG03486.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0022 a0001c0001t0001g0146 a0001c0001t0001g0147	3	408	0.0074	186	c.32 others(197): Show c.3252_*3253insCATGATATATAATATGTTATATAATATATAATAT AATATATGATATATCACATGTTATATAATATATAATATATTATATAATAT ATTATATAACATATGATATATCATATATTATATAACAAGTTATATAACAT ATAACATATTATATAACATGCTATATAACATATAACATGTTATATAACAT GT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					2950		chr18	TogoVar
GRP_chr18_59215158_59235771	59233720	A A	ACATGATA others(179): Show ACATGATATATAATATGTTATATAATATATAATATAATATATGATATATC ACATGTTATATAATATATAATATATTATATAATATATTATATAACATATG ATATATCATATATTATATAACATGTTATATAACATATAACATATTATATA ACATGCTATATAACATATAACATGTTATATAACATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG03041.hp1 HG02572.hp1 HG02717.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0148 a0001c0001t0001g0022 a0001c0001t0001g0148	3	408	0.0074	186	c.32 others(197): Show c.3252_*3253insCATGATATATAATATGTTATATAATATATAATAT AATATATGATATATCACATGTTATATAATATATAATATATTATATAATAT ATTATATAACATATGATATATCATATATTATATAACATGTTATATAACAT ATAACATATTATATAACATGCTATATAACATATAACATGTTATATAACAT GT		GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding					2950		chr18	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(179): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0279	1	290	0.0035	186	c.427 others(203): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC CTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(179): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	290	0.0035	186	c.427 others(203): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC CTCCTCCT		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15						chr16	TogoVar
GZMM_chr19_539053_554922	540459	C C	CCCCCCAC others(179): Show CCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTTTA GAATCCAGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCGGAGGCC GGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGG CCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 NA18970.hp2 HG00639.hp2 HG01074.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0194 a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0194	3	398	0.0075	186	c.-36 others(197): Show c.-3613_-3612insCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCC AGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCAGGCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCACGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCGGGTTTAGAATCCAGAGGCTGGGATGGCCA GG		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3593		chr19	TogoVar
HERC4_chr10_67916905_68080283	68059855	C C	CATAATAT others(179): Show CATAATATTATATATTATAATATTATATATCATAATATTATATATTATAA TATTATATATCATAATATTATATATTATAATATTATATATCATAATATTA TATATTATAATATTATATATCATAATACTATATATTATAATATTATATAT CATAATACTATATATTATAATAATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	360	0.0028	186	c.226 others(205): Show c.226+13027_226+13028insTATGATATATAATATTATTATAATAT ATAGTATTATGATATATAATATTATAATATATAGTATTATGATATATAAT ATTATAATATATAATATTATGATATATAATATTATAATATATAATATTAT GATATATAATATTATAATATATAATATTATGATATATAATATTATAATAT ATAATATTAT		HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24						chr10	TogoVar
IGF1_chr12_102390874_102485563	102441933	T T	TCTTCTTC others(179): Show TCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	360	0.0028	186	c.221 others(205): Show c.221-22244_221-22243insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAGAAG		IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3						chr12	TogoVar
IL17RA_chr22_17080000_17120693	17094667	C C	CTATATAT others(179): Show CTATATATATATATATGTGTGTATATATATATATATATATATATATGTGT ATATATATATATATATATATATGTGTGTGTATATATATATATATATATAT ATGTGTGTGTATATATATATATATATATATATATATGTGTGTATATATAT ATATATATATATATATATGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0021 a0001c0001t0038g0021	1	416	0.0024	186	c.139 others(203): Show c.139-2394_139-2393insATATATATATATATGTGTGTATATATAT ATATATATATATATATGTGTATATATATATATATATATATATGTGTGTGT ATATATATATATATATATATATGTGTGTGTATATATATATATATATATAT ATATATGTGTGTATATATATATATATATATATATATATGTGTGTATATAT ATATATAT		IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
IL3RA_chrX_1331785_1387689	1361153	C C	CTTCCCCT others(179): Show CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCT TCCCCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTTCCTT CTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0096 a0001c0001t0015g0096	1	115	0.0087	186	c.759 others(203): Show c.759+2268_759+2269insCCCCTCTCTGTCTCTCTCTCCCTTCCCC TCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCTTCCCCTCTC TGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTG TCTCTCTCTCCCTTTCCTTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTC TCTCCATT		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCJ_chr3_159064319_159268747	159229783	C C	CCCCCTCC others(179): Show CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTG TCTTCCTCCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCC CCCTCCTCCCACTCCTCCTCCCCCTCCTCCTCCCCCA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	252	0.0040	186	c.10- others(203): Show c.10-16060_10-16059insCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCC CGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTC CTCCCCCA		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3						chr3	TogoVar
IRAK2_chr3_10159919_10248745	10215224	T T	TAAAAATA others(179): Show TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0112 a0007c0013t0001g0112	1	292	0.0034	186	c.788 others(203): Show c.788+1681_788+1682insTACAAAAAATTAGCCGGGCGAGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGCGCCACTGCACTC CAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK4_chr12_43753951_43794541	43790799	A A	ATGGTATG others(179): Show ATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACC ATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAGTATGGTAT GGTTTGTTATTCGTTAGTATGAAGATTACAGGTATAAGCTACCATGAAAA TCACATTGAAAATCACCTAGTTTGTGATGCATTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 NA18940.hp2 HG00423.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0001 a0001c0001t0001g0071	2	354	0.0057	186	c.40 others(197): Show c.4084_*4085insTGGTATGGTTTGTTATTCGTTAGTATGAAGATTA CAGGTATAAGCTACCATGAAAATCACATTGAAAATCACCTAGTTTGTGAT GCATTAGTATGGTATGGTTTGTTATTCGTTAGTATGAAGATTACAGGTAT AAGCTACCATGAAAATCACATTGAAAATCACCTAGTTTGTGATGCATTAG TG		IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding					1259		chr12	TogoVar
IYD_chr6_150364012_150410969	150372601	G G	GTGTGACC others(179): Show GTGTGACCATGCTTGTTAGACATGTGTGTGTGTGGGTGGGGTGGGGGGTG GTGAGAGAACATTGTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGT GGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACATG TGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0094 a0002c0002t0040 a0002c0002t0094	a0002c0002t0040g0096 a0002c0002t0094g0097 a0002c0002t0040g0096 a0002c0002t0094g0097	2	414	0.0048	186	c.178 others(203): Show c.178+3395_178+3396insGACCATGCTTGTTAGACATGTGTGTGTG TGGGTGGGGTGGGGGGTGGTGAGAGAACATTGTGTGTCCATGCTTATTAG ACATGTGTGTGTGGGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGT CCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGG GGTCATGT		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
IYD_chr6_150364012_150410969	150372601	G G	GTGTGTCC others(179): Show GTGTGTCCATGCTTAATAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTG GTGAGGGGTCATGTTGTGTCCATGCTTATTAGACATGTGTGTGTGTGGGT GGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACATG TGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01109.hp2 others(14): Show HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG02055.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0008 a0001c0001t0009 a0001c0001t0036 others(4): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0036 a0001c0001t0045 a0001c0001t0106 a0001c0001t0109 a0006c0006t0008	a0001c0001t0008g0024 a0001c0001t0008g0109 a0001c0001t0009g0002 others(9): Show a0001c0001t0008g0024 a0001c0001t0008g0109 a0001c0001t0009g0002 a0001c0001t0009g0023 a0001c0001t0009g0106 a0001c0001t0009g0111 a0001c0001t0036g0110 a0001c0001t0045g0104 a0001c0001t0045g0105 a0001c0001t0106g0024 a0001c0001t0109g0107 a0006c0006t0008g0108	17	414	0.0411	186	c.178 others(203): Show c.178+3395_178+3396insGTCCATGCTTAATAGACATGTGTGTGTG GGGGTGGGGTGGGGAGTGGTGAGGGGTCATGTTGTGTCCATGCTTATTAG ACATGTGTGTGTGTGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGT CCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGG GGTCATGT		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar
IYD_chr6_150364012_150410969	150372601	G G	GTGTGTCC others(179): Show GTGTGTCCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGGGTG GTGAGAGAACATTGTGTGACCATGCTTATTAGACATGTGTGTGTGGGGGT GGGGTGGGGGGTGGTGAGGGAACATTGTGTGTCCATGCTTATTAGACATG TGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGGGGTCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp1 HG02572.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0093 a0002c0002t0040 a0002c0002t0093	a0002c0002t0040g0094 a0002c0002t0093g0095 a0002c0002t0040g0094 a0002c0002t0093g0095	2	414	0.0048	186	c.178 others(203): Show c.178+3395_178+3396insGTCCATGCTTATTAGACATGTGTGTGTG GGGGTGGGGTGGGGGGTGGTGAGAGAACATTGTGTGACCATGCTTATTAG ACATGTGTGTGTGGGGGTGGGGTGGGGGGTGGTGAGGGAACATTGTGTGT CCATGCTTATTAGACATGTGTGTGTGGGGGTGGGGTGGGGAGTGGTGAGG GGTCATGT		IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr6	TogoVar

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