Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXI1_chr5_170100897_170114734	170105348	G G	GGAGAGGG others(44): Show GGAGAGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	302	0.0033	51	c.-61 others(60): Show c.-610_-609insGAGAGGGGGGGGGGGGGGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGA	FOXI1	ENSG00000168269.10	transcript	ENST00000306268.8	protein_coding		548		chr5	TogoVar
FOXJ3_chr1_42171548_42340235	42221999	G G	GGGAGGGG others(44): Show GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAG GA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	315	0.0032	51	c.528 others(68): Show c.528+5883_528+5884insTCCTCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222031	G G	GAGGGGGA others(44): Show GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA GA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	188	0.0053	51	c.528 others(68): Show c.528+5851_528+5852insTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222032	A A	AGGGGGAG others(44): Show AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	308	0.0032	51	c.528 others(68): Show c.528+5850_528+5851insCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXK2_chr17_82514732_82609602	82593155	C C	CAGGCTCT others(44): Show CAGGCTCTTATTCTGAAAGCAGACCCAGTGAAGGTCTCCCTGTGCCAGGC AG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01168.hp1 HG03516.hp2 HG00733.hp2 HG01168.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0030 a0001c0001t0026 a0001c0001t0030	a0001c0001t0026g0080 a0001c0001t0026g0121 a0001c0001t0030g0226 a0001c0001t0026g0080 a0001c0001t0026g0121 a0001c0001t0030g0226	3	248	0.0121	51	c.178 others(70): Show c.1786+5960_1786+6010dupAGTGAAGGTCTCCCTGTGCCAGGCAG AGGCTCTTATTCTGAAAGCAGACCC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89360774	T T	TCCAGCAC others(44): Show TCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCAC CA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0087 a0001c0001t0005g0087	1	204	0.0049	51	c.544 others(68): Show c.544-9967_544-9966insTGGTGGTGCTGGAGGTGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGCTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360891	A A	ACCACTAC others(44): Show ACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCCACCACCAC CT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0104 a0001c0001t0003g0104	1	173	0.0058	51	c.544 others(70): Show c.544-10084_544-10083insAGGTGGTGGTGGAGGTGGTGGTGGTG GAGGTAGTGCTGGAGGTGGTAGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360903	T T	TCCAGCAC others(44): Show TCCAGCACCACCACCACCACCACCACCTCCACCACCACCACCTCCAGCAC CA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0065 a0001c0001t0069g0065	1	173	0.0058	51	c.544 others(70): Show c.544-10096_544-10095insTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGCTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89360938	C C	CACCTCCA others(44): Show CACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	216	0.0046	51	c.544 others(70): Show c.544-10131_544-10130insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGAGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361084	C C	CCACCTCC others(44): Show CCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCACCACC AG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	228	0.0044	51	c.544 others(70): Show c.544-10277_544-10276insCTGGTGGTGGTGGTGCTGGAGGTGGT GGTGGTGGAGGTGGTGCTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361414	C C	CTACCACC others(44): Show CTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCTCC AG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	201	0.0050	51	c.544 others(70): Show c.544-10607_544-10606insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTA	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361559	C C	CCACCACC others(44): Show CCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCC AG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0089 a0001c0001t0007g0089	1	174	0.0057	51	c.544 others(70): Show c.544-10752_544-10751insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361587	T T	TACCACCT others(44): Show TACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCA CC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	132	0.0076	51	c.544 others(70): Show c.544-10780_544-10779insGGTGGAGGTGGTGGTGGAGGTGGTGC TGGAGGTGGTAGTGGTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361665	C C	CACCACCA others(44): Show CACCACCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CT	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0148	1	213	0.0047	51	c.544 others(70): Show c.544-10858_544-10857insAGTGGTGGAGGTGGTGGTGGAGGTGG TGCTGGAGGTGGTGGTGGTGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361942	A A	ACCACCAC others(44): Show ACCACCACCTCCACCACCACCTCCACCACTACCACCTCCACCACCACCAC CT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0028 a0001c0001t0021g0028	1	216	0.0046	51	c.544 others(70): Show c.544-11135_544-11134insAGGTGGTGGTGGTGGAGGTGGTAGTG GTGGAGGTGGTGGTGGAGGTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361970	C C	CCACCACC others(44): Show CCACCACCTCCACCACCACCACCACCACCACCACCTCCAGCACCACCTCC AG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	209	0.0048	51	c.544 others(70): Show c.544-11163_544-11162insCTGGAGGTGGTGCTGGAGGTGGTGGT GGTGGTGGTGGTGGTGGAGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362039	C C	CCACCTCC others(44): Show CCACCTCCACCACTACCACCTCCAGCACTACCTCCACCACCACCACCTCC AG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0154 a0001c0001t0023g0154	1	220	0.0045	51	c.544 others(70): Show c.544-11232_544-11231insCTGGAGGTGGTGGTGGTGGAGGTAGT GCTGGAGGTGGTAGTGGTGGAGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362067	T T	TACCACCT others(44): Show TACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCA GC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0200 a0001c0001t0024g0200	1	149	0.0067	51	c.544 others(70): Show c.544-11260_544-11259insGCTGGAGGTGGTGGTGGAGGTGGTGC TGGAGGTGGTGGTGGTGGAGGTGGT	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362210	G G	GCACTACC others(44): Show GCACTACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCC AC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	90	0.0111	51	c.544 others(70): Show c.544-11403_544-11402insGTGGAGGTGGTGGTGGAGGTGGTGCT GGAGGTGGTGGTGGTGGAGGTAGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRK_chr6_115926149_116065891	115958644	A A	AAAGAAAG others(44): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02886.hp1 HG02004.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0012 a0001c0001t0003 a0001c0009t0012	a0001c0001t0003g0239 a0001c0009t0012g0120 a0001c0001t0003g0239 a0001c0009t0012g0120	2	245	0.0082	51	c.800 others(68): Show c.800-2035_800-2034insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(44): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATC TT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03491.hp1 HG00558.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0233 a0001c0001t0001g0202 a0001c0001t0001g0233	2	218	0.0092	51	c.148 others(70): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13714019	A A	AATATACA others(44): Show AATATACATATATAAAATATACATATATATAAAATATATATTTTATATAT AT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA19009.hp2 HG02148.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0007 a0001c0001t0005 a0001c0002t0007	a0001c0001t0005g0109 a0001c0002t0007g0126 a0001c0001t0005g0109 a0001c0002t0007g0126	2	84	0.0238	51	c.760 others(68): Show c.760-6907_760-6906insATATATATAAAATATATATTTTATATAT ATGTATATTTTATATATGTATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD5_chr15_43865764_44200271	43999953	C C	CATATATA others(44): Show CATATATATATATATATATATATATATATATATATATATATGCCATGCAT AT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	112	0.0089	51	c.103 others(70): Show c.103-75645_103-75644insATATGCATGGCATATATATATATATA TATATATATATATATATATATATAT	FRMD5	ENSG00000171877.21	transcript	ENST00000417257.6	protein_coding	1/13			chr15	TogoVar
GAB2_chr11_78210293_78422820	78407651	A A	AAGTAAGT others(44): Show AAGTAAGTAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGATG GC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	245	0.0041	51	c.75+ others(66): Show c.75+9994_75+9995insGCCATCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTACTTACT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABPB1_chr15_50270389_50360198	50340887	C C	CATATGGT others(44): Show CATATGGTTTATTACCATATGTAATATTACATATGGTTTATTACCATATG TA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19054.hp1 HG03225.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0077 a0001c0001t0002g0015 a0001c0001t0002g0077	2	252	0.0079	51	c.-1+ others(68): Show c.-1+14097_-1+14098insTACATATGGTAATAAACCATATGTAATA TTACATATGGTAATAAACCATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50340959	C C	CATATGGT others(44): Show CATATGGTTTATTACCATATGTAATATTACATATGGTTTATTACCATATG TA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	347	0.0029	51	c.-1+ others(68): Show c.-1+14025_-1+14026insTACATATGGTAATAAACCATATGTAATA TTACATATGGTAATAAACCATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GABPB1_chr15_50270389_50360198	50340995	C C	CATATGGT others(44): Show CATATGGTTTATTACCATATGTAATATTACATATGGTTTATTACCATATG TA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0120 a0001c0001t0007g0120	1	363	0.0028	51	c.-1+ others(68): Show c.-1+13989_-1+13990insTACATATGGTAATAAACCATATGTAATA TTACATATGGTAATAAACCATAT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	1/8			chr15	TogoVar
GAK_chr4_844277_937316	846417	A A	AGTCACAC others(44): Show AGTCACACCAGCAGCTCACCCCTCTCCATGCTGAGCAGGACCCCGTGGCG CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0190 a0002c0003t0001g0190	1	245	0.0041	51	c.32 others(62): Show c.3255_*3256insGGCGCCACGGGGTCCTGCTCAGCATGGAGAGGGG TGAGCTGCTGGTGTGAC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding		2859		chr4	TogoVar
GAK_chr4_844277_937316	846495	A A	ATGCTGAG others(44): Show ATGCTGAGCAGGACCCCGTGGCGCCGTCACACCAGCAGCTCACCCCTCTC CG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	388	0.0026	51	c.31 others(62): Show c.3177_*3178insCGGAGAGGGGTGAGCTGCTGGTGTGACGGCGCCA CGGGGTCCTGCTCAGCA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding		2781		chr4	TogoVar
GALNT16_chr14_69255158_69359466	69342498	G G	GAGGGAGG others(44): Show GAGGGAGGGAAGGTGGAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	304	0.0033	51	c.127 others(68): Show c.1271+743_1271+744insAGGTGGAAGAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGCAGGGAGGGA	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT9_chr12_132191372_132334589	132192194	G G	GGTCGTCG others(44): Show GGTCGTCGGGCTGGGGGAGTGCCTGCACCCGTACTGGCTGCTCCGAGCCC CT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	182	0.0055	51	c.49 others(62): Show c.4912_*4913insAGGGGCTCGGAGCAGCCAGTACGGGTGCAGGCAC TCCCCCAGCCCGACGAC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding		4177		chr12	TogoVar
GALNT9_chr12_132191372_132334589	132244630	C C	CGGGGGCG others(44): Show CGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATGGGGGCTGGAC GG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02809.hp2 others(3): Show HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02895.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 others(1): Show a0001c0001 a0001c0006 a0001c0016 a0001c0026	a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 a0001c0026t0014	a0001c0001t0001g0149 a0001c0006t0001g0073 a0001c0006t0001g0078 others(3): Show a0001c0001t0001g0149 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0016t0001g0147 a0001c0026t0014g0052	6	170	0.0353	51	c.107 others(70): Show c.1077+3279_1077+3280insCCGTCCAGCCCCCATCACCACGCCCC CGTCCAGCCCCATCACCACGCCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172069576	T T	TTATATAT others(44): Show TTATATATATTATATATATAACACATGTGTTATATATAACACATATGTGT TA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03139.hp2 HG02630.hp1 HG02965.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0008g0010 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0008g0010	3	34	0.0882	51	c.139 others(72): Show c.139-160073_139-160072insATTATATATATAACACATGTGTTA TATATAACACATATGTGTTATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	157	0.0064	51	c.287 others(68): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	157	0.0064	51	c.287 others(68): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAAAATATATAT ATATATATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GARNL3_chr9_127259774_127398660	127391533	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	157	0.0064	51	c.287 others(68): Show c.2870+767_2870+768insAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATATA	GARNL3	ENSG00000136895.19	transcript	ENST00000373387.9	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAS6_chr13_113815549_113869076	113836384	G G	GGGAGGGG others(44): Show GGGAGGGGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAG GA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01099.hp2 others(18): Show HG00423.hp2 HG00639.hp2 HG01099.hp2 HG02015.hp1 HG02132.hp2 HG02809.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18971.hp2 NA19058.hp1 NA19064.hp2 NA19091.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0002t0001g0017 a0001c0002t0001g0139 a0001c0003t0001g0005 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0003t0001g0036 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047	21	124	0.1694	51	c.590 others(66): Show c.590-750_590-749insTCCTCCCCCTCCTCCTCCTCCCCCTCCTCC TCCTCCCCCTCCTCCCCCTCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	6/14			chr13	TogoVar
GCNT3_chr15_59606783_59627723	59611084	C C	CCCTCCCC others(44): Show CCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTT CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	266	0.0038	51	c.-11 others(62): Show c.-1148_-1147insCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCT CCTCCCCCTCCCCTTCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		698		chr15	TogoVar
GEMIN6_chr2_38773210_38790002	38779664	A A	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATTTTTTT TT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0006 a0001c0001t0008g0006	1	125	0.0080	51	c.128 others(66): Show c.128+547_128+548insATATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTT	GEMIN6	ENSG00000152147.11	transcript	ENST00000281950.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
GEN1_chr2_17749138_17793946	17753369	C C	CCGCCTGG others(44): Show CCGCCTGGGAGGGGACGGCCGCCTGGGAGGGGACGGCCGCTGGGAGGGAC GG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	318	0.0031	51	c.-99 others(60): Show c.-992_-991insCGCCTGGGAGGGGACGGCCGCCTGGGAGGGGACGGC CGCTGGGAGGGACGG	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding		768		chr2	TogoVar
GET4_chr7_871554_901436	897651	A A	AGGGGGCA others(44): Show AGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAGGGGGGCACCTGGGGA AG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01496.hp1 HG02145.hp2 others(4): Show HG01099.hp2 HG01496.hp1 HG02145.hp2 NA18994.hp1 NA18994.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0016 a0001c0001 a0001c0002 a0001c0016	a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0016t0001	a0001c0001t0001g0225 a0001c0001t0008g0169 a0001c0002t0002g0142 others(4): Show a0001c0001t0001g0225 a0001c0001t0008g0169 a0001c0002t0002g0142 a0001c0002t0006g0054 a0001c0002t0007g0137 a0001c0002t0007g0143 a0001c0016t0001g0031	7	245	0.0286	51	c.22 others(62): Show c.2229_*2230insGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG GGGGGCACCTGGGGAAG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1216		chr7	TogoVar
GHR_chr5_42418439_42726878	42576046	T T	TAAATAAA others(44): Show TAAATAAAATAAAATATAAAATAAAATAAAATAATAAAATAAAATAAAAT AA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0085 a0003c0005t0007g0085	1	120	0.0083	51	c.70+ others(68): Show c.70+10104_70+10105insATAAAATAAAATATAAAATAAAATAAAA TAATAAAATAAAATAAAATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIPC1_chr19_14472762_14501127	14496041	T T	TCCGCCGC others(44): Show TCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0325 a0001c0002t0051g0325	1	194	0.0052	51	c.-18 others(60): Show c.-180_-179insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGGCGGCGGCGGCGG	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	1/9	13066		chr19	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(44): Show CCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACCACC AT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	380	0.0026	51	c.961 others(68): Show c.961+1008_961+1009insCCACCACCATCACCACCATCACCACCAT CACCATCACCACCACCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1L3_chr11_134271379_134324564	134308365	C C	CCATCACC others(44): Show CCATCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACC AT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19088.hp2 NA18950.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0283 a0001c0002t0002g0284	2	352	0.0057	51	c.961 others(68): Show c.961+1159_961+1160insTCACCATCACCACCACCACCACCACCAT CACCATCACCATCATCACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLG1_chr16_74442440_74612114	74539999	A A	ATATATTA others(44): Show ATATATTATATATATATATTATATATATATTTTATATATTATATATATAT AT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0192 a0001c0004t0017g0192	1	169	0.0059	51	c.439 others(68): Show c.439-7847_439-7846insATATATATATATAATATATAAAATATAT ATATAATATATATATATAATATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(44): Show GGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGG AA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp2 HG01975.hp2 others(3): Show HG00733.hp2 HG01255.hp2 HG01975.hp2 HG02683.hp1 HG03654.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0013 a0001c0005t0006 a0001c0001t0006 a0001c0001t0013 a0001c0005t0006	a0001c0001t0006g0270 a0001c0001t0006g0273 a0001c0001t0006g0275 others(3): Show a0001c0001t0006g0270 a0001c0001t0006g0273 a0001c0001t0006g0275 a0001c0001t0006g0276 a0001c0001t0013g0310 a0001c0005t0006g0274	6	126	0.0476	51	c.439 others(70): Show c.439-10556_439-10555insTTCCTTCCTTCCTTCCTTCCTCCCTC CCTTCCTTCCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(44): Show GGAAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG AA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0289 a0001c0001t0045g0289	1	121	0.0083	51	c.439 others(70): Show c.439-10556_439-10555insTTCCTTCCTTCCTTCCTTCCTCCCTC CCTCCCTTCCTTCCTTCCTCCCTTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI3_chr7_41955949_42242209	41968731	A A	AGAAAGAA others(44): Show AGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGA AG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0012 a0001c0011t0012	a0001c0011t0012g0155 a0001c0011t0012g0155	1	154	0.0065	51	c.210 others(68): Show c.2104-809_2104-808insCTTCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTC	GLI3	ENSG00000106571.15	transcript	ENST00000395925.8	protein_coding	13/14			chr7	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TTCCTTTC others(44): Show TTCCTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	211	0.0047	51	c.912 others(68): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAAGGAAAGGA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar

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