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
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0076 a0001c0003t0055g0076	1	303	0.0033	29	c.439 others(48): Show c.439-10638_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19009.hp2 NA19090.hp1 HG02451.hp1 NA19009.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0066 a0001c0003t0003g0072 a0001c0003t0010g0071 a0001c0003t0003g0066 a0001c0003t0003g0072 a0001c0003t0010g0071	3	323	0.0093	29	c.439 others(48): Show c.439-10642_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542768	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG00741.hp2 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0050 a0001c0003t0003 a0001c0002t0050 a0001c0003t0003	a0001c0002t0050g0055 a0001c0003t0003g0065 a0001c0002t0050g0055 a0001c0003t0003g0065	2	339	0.0059	29	c.439 others(48): Show c.439-10644_439-10616dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542770	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0068 a0001c0003t0003g0068	1	335	0.0030	29	c.439 others(48): Show c.439-10646_439-10618dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLI1_chr12_57454785_57477268	57465242	T T	TGCAACTA others(22): Show TGCAACTAGCCAGGAATTCAGCAGCGCAAA	frameshift_variant frameshift_variant	HIGH	HG01515.hp1 HG01515.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0065 a0008c0022t0001g0065	1	412	0.0024	29	c.521 others(36): Show c.521_522insGCAACTAGCCAGGAATTCAGCAGCGCAAA	p.Phe others(5): Show p.Phe174fs	GLI1	ENSG00000111087.10	transcript	ENST00000228682.7	protein_coding	5/12	966/3972	522/3321	174/1106			chr12	TogoVar
GLO1_chr6_38670925_38708145	38687957	T T	TTACTTTG others(22): Show TTACTTTGGAGCCACATGCCATCTTTCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA20905.hp1 HG04199.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	2	408	0.0049	29	c.85- others(43): Show c.85-1012_85-984dupGGAGAAAGATGGCATGTGGCTCCAAAGTA		GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5						chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01515.hp1 others(13): Show HG00408.hp2 HG00738.hp1 HG01515.hp1 HG01943.hp1 HG02055.hp1 HG03239.hp1 HG06807.hp2 NA18943.hp1 NA18948.hp1 NA18960.hp1 NA18971.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp2 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0058 others(9): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0002g0118 a0001c0001t0002g0123	16	25	0.6400	29	c.201 others(46): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP2R_chr17_9820924_9897099	9873556	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	19	0.0526	29	c.114 others(48): Show c.1145+2744_1145+2745insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLP2R_chr17_9820924_9897099	9879291	T T	TAAAATAA others(22): Show TAAAATAAAATAAAATAAAATAAAATAATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp1 HG00544.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0048 a0001c0001t0001g0051	2	278	0.0072	29	c.114 others(48): Show c.1146-1084_1146-1083insATAAAATAAAATAAAATAAAATAATA AAA		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	172	0.0058	29	c.912 others(46): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAGAAAGAAAAGAA A		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(22): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0284 a0001c0001t0001g0072 a0001c0001t0003g0284	2	172	0.0116	29	c.912 others(46): Show c.912+1937_912+1938insGGAAAGGAAAGGAAAGGAAAGGAAAGGA A		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TCCCTCCC others(22): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	211	0.0047	29	c.912 others(46): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG G		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	107	0.0093	29	c.931 others(46): Show c.931-8799_931-8798insAAAAAAATATATATATATATATATATAT A		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	26	0.0385	29	c.-17 others(38): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding					105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652596	A A	ATTATATA others(22): Show ATTATATATAATATATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp2 HG03704.hp1 others(2): Show HG02698.hp1 HG03017.hp2 HG03704.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0002t0001g0104 others(2): Show a0001c0001t0001g0064 a0001c0001t0001g0112 a0001c0002t0001g0104 a0001c0002t0001g0153 a0001c0002t0006g0166	5	161	0.0311	29	c.988 others(48): Show c.988-28085_988-28057dupATAATATATATTATATATATTATATA TAA		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1927118	T T	TTTTTATT others(22): Show TTTTTATTCAGAGGGTAGCGTGTTGATGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	164	0.0061	29	c.771 others(46): Show c.771+2956_771+2984dupTACATCAACACGCTACCCTCTGAATAAA A		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1927227	G G	GTGTTGGT others(22): Show GTGTTGGTGTATTTTATTCGGAGGGTAGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02258.hp2 others(6): Show HG00639.hp2 HG02109.hp2 HG02258.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0040 a0001c0001t0001g0077 a0001c0001t0001g0081 others(6): Show a0001c0001t0001g0040 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0138 a0001c0001t0002g0047 a0001c0002t0001g0043 a0001c0002t0001g0079 a0001c0002t0001g0136	9	163	0.0552	29	c.771 others(46): Show c.771+2875_771+2876insTGCTACCCTCCGAATAAAATACACCAAC A		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	6	0.1667	29	c.345 others(48): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GMEB2_chr20_63582605_63632101	63599177	C C	CCCGCTCC others(22): Show CCCGCTCCTGACCCCCCGGAGCTAACGCGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18522.hp2 HG01081.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0113 a0001c0001t0001g0114	2	323	0.0062	29	c.358 others(46): Show c.358-1318_358-1317insCCGCGTTAGCTCCGGGGGGTCAGGAGCG G		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	4/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63626230	A A	ATCACTGT others(22): Show ATCACTGTGGGTCTCGTCCCTGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp2 others(13): Show HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG02970.hp1 HG03486.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0005t0010 a0001c0005t0012 others(1): Show a0001c0005t0005 a0001c0005t0010 a0001c0005t0012 a0001c0014t0010	a0001c0005t0005g0006 a0001c0005t0005g0278 a0001c0005t0005g0279 others(11): Show a0001c0005t0005g0006 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0005g0280 a0001c0005t0005g0281 a0001c0005t0005g0282 a0001c0005t0005g0283 a0001c0005t0005g0284 a0001c0005t0005g0285 a0001c0005t0005g0286 a0001c0005t0010g0287 a0001c0005t0012g0031 a0001c0005t0012g0032 a0001c0014t0010g0288	16	318	0.0503	29	c.-58 others(44): Show c.-58+725_-58+726insCCACCCCACAGGGACGAGACCCACAGTGA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63626230	A A	ATCCCTGT others(22): Show ATCCCTGTGGGTCTCGTCCCTGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02809.hp1 others(7): Show HG01255.hp2 HG02109.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03516.hp1 NA18522.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 others(2): Show a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 a0001c0005t0025 a0001c0007t0007	a0001c0003t0002g0270 a0001c0005t0003g0107 a0001c0005t0008g0271 others(7): Show a0001c0003t0002g0270 a0001c0005t0003g0107 a0001c0005t0008g0271 a0001c0005t0008g0272 a0001c0005t0008g0274 a0001c0005t0025g0273 a0001c0007t0007g0033 a0001c0007t0007g0034 a0001c0007t0007g0035 a0001c0007t0007g0036	10	312	0.0321	29	c.-58 others(44): Show c.-58+725_-58+726insCCACCCCACAGGGACGAGACCCACAGGGA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9						chr20	TogoVar
GML_chr8_142829801_142851851	142831876	C C	CACCCCCA others(22): Show CACCCCCATTGCCATATGAGCTATTCGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	420	0.0024	29	c.-30 others(40): Show c.-3015_-3014insACCCCCATTGCCATATGAGCTATTCGACA		GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding					2924		chr8	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	123	0.0081	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATATTT T		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	123	0.0081	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATTTTT T		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145360	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	413	0.0024	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATATAT A		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6						chr19	TogoVar
GNAQ_chr9_77711097_78036811	77761036	A A	AGCCCCTC others(22): Show AGCCCCTCCGCCCGGCAGCCACCCCATCTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	280	0.0036	29	c.736 others(48): Show c.736-32398_736-32370dupCAGATGGGGTGGCTGCCGGGCGGAGG GGC		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77828059	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	15	0.0667	29	c.322 others(48): Show c.322-12318_322-12290dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894387	A A	AAATATAT others(22): Show AAATATATATTTTATATATATATTTAATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0274 a0001c0001t0032g0275 a0001c0001t0019g0274 a0001c0001t0032g0275	2	277	0.0072	29	c.321 others(48): Show c.321+27773_321+27774insCTATTAAATATATATATAAAATATAT ATT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNB1L_chr22_19778223_19859874	19798153	G G	GCCAGCAC others(22): Show GCCAGCACCTGCTGCGCGGGGCCGTCAAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0284 a0005c0006t0002g0284	1	324	0.0031	29	c.732 others(46): Show c.732+3819_732+3847dupACTTGACGGCCCCGCGCAGCAGGTGCTG G		GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	7/7						chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0047 a0004c0004t0005g0047	1	280	0.0036	29	c.-21 others(46): Show c.-21+6639_-21+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7						chr22	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG03669.hp1 HG04228.hp1 others(3): Show HG02622.hp2 HG03669.hp1 HG04228.hp1 NA18966.hp1 NA18970.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0152 a0001c0001t0008 a0001c0001t0152	a0001c0001t0008g0101 a0001c0001t0008g0149 a0001c0001t0008g0151 others(3): Show a0001c0001t0008g0101 a0001c0001t0008g0149 a0001c0001t0008g0151 a0001c0001t0008g0154 a0001c0001t0008g0176 a0001c0001t0152g0241	6	164	0.0366	29	c.56 others(40): Show c.5654_*5655insAAAAATATATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp2 NA18960.hp2 NA18981.hp2 others(1): Show NA18956.hp2 NA18960.hp2 NA18981.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0093 a0001c0001t0015 a0001c0001t0093	a0001c0001t0015g0140 a0001c0001t0015g0141 a0001c0001t0015g0155 others(1): Show a0001c0001t0015g0140 a0001c0001t0015g0141 a0001c0001t0015g0155 a0001c0001t0093g0142	4	162	0.0247	29	c.56 others(40): Show c.5654_*5655insAAAAAAATATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG03490.hp2 HG03704.hp2 others(4): Show HG02698.hp2 HG03490.hp2 HG03704.hp2 NA18946.hp1 NA18969.hp2 NA18978.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0090 a0001c0002t0149 a0001c0001t0007 a0001c0001t0090 a0001c0002t0149	a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 others(4): Show a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0152 a0001c0001t0007g0171 a0001c0001t0090g0163 a0001c0002t0149g0259	7	165	0.0424	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0143 a0001c0001t0084g0143	1	159	0.0063	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAAAATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0090 a0001c0003t0098g0090	1	159	0.0063	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAAAAAAAAAATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942589	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18989.hp2 NA18966.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0061 a0001c0001t0005 a0001c0002t0061	a0001c0001t0005g0300 a0001c0002t0061g0365 a0001c0001t0005g0300 a0001c0002t0061g0365	2	167	0.0120	29	c.-29 others(46): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT T		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG4_chr1_235542685_235654784	235596248	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0236 a0001c0001t0076g0236	1	328	0.0030	29	c.-12 others(46): Show c.-122-738_-122-737insGTGTGTGTGTGTGTGTGTGTGTGTGTGT G		GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3						chr1	TogoVar
GNG7_chr19_2506219_2707694	2592741	A A	AAGGGGAG others(22): Show AAGGGGAGGGGAGGGGAGGGAAGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0088 a0001c0001t0017 a0001c0001t0088	a0001c0001t0017g0042 a0001c0001t0088g0181 a0001c0001t0017g0042 a0001c0001t0088g0181	2	25	0.0800	29	c.-77 others(48): Show c.-77-37554_-77-37553insCCCCTTCCTTCCCTCCCCTCCCCTCC CCT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2602897	T T	TTTTCTTT others(22): Show TTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0023 a0001c0001t0060g0023	1	202	0.0050	29	c.-78 others(48): Show c.-78+43326_-78+43327insGAAAGAAAGAAAAGAAAGAAAGAAAG AAA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2638446	G G	GAGGGGGA others(22): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0149 a0001c0001t0004g0149	1	177	0.0056	29	c.-78 others(46): Show c.-78+7777_-78+7778insTTCCCTCCCCCTCCCCTCCCCCTCCCCC T		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2638452	A A	AGGGGGAG others(22): Show AGGGGGAGGGGAGGGGGAGGGAAAGGGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0008 a0001c0001t0025g0008	1	202	0.0050	29	c.-78 others(46): Show c.-78+7771_-78+7772insCTCCCCTTTCCCTCCCCCTCCCCTCCCC C		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNPTAB_chr12_101740499_101835959	101824433	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19011.hp1 NA19066.hp2 NA18977.hp2 NA19011.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0250 a0001c0003t0003g0133 a0001c0003t0003g0141 a0001c0001t0004g0250 a0001c0003t0003g0133 a0001c0003t0003g0141	3	285	0.0105	29	c.117 others(46): Show c.117+6125_117+6126insTATATATATATATATATATATATATATA T		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20						chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833180	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG03710.hp1 HG00558.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0128 a0001c0003t0003g0159 a0001c0002t0002g0128 a0001c0003t0003g0159	2	217	0.0092	29	c.-25 others(40): Show c.-2506_-2505insATATATATATATATATATATATATATATA		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2222		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19065.hp1 NA18960.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0004 a0001c0003t0003 a0001c0008t0004	a0001c0003t0003g0176 a0001c0008t0004g0253 a0001c0003t0003g0176 a0001c0008t0004g0253	2	46	0.0435	29	c.-25 others(40): Show c.-2508_-2507insATATATATATATATATATATATATATATT		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG03239.hp2 NA18945.hp1 others(2): Show HG02165.hp2 HG03239.hp2 NA18945.hp1 NA18987.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0246 a0001c0001t0004g0258 others(2): Show a0001c0001t0004g0005 a0001c0001t0004g0246 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0004g0272	5	49	0.1020	29	c.-25 others(40): Show c.-2508_-2507insATATATATATATATATATATATATATATA		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GOLGA8B_chr15_34520095_34588651	34584748	C C	CGGGGGGG others(22): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0086 a0003c0003t0003g0086	1	43	0.0233	29	c.-23 others(40): Show c.-2356_-2355insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC		GOLGA8B	ENSG00000215252.12	transcript	ENST00000683415.1	protein_coding					1098		chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23361170	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0032 a0004c0004t0032	a0004c0004t0032g0117 a0004c0004t0032g0117	1	323	0.0031	29	c.914 others(42): Show c.914-48_914-47insCTTTTCTTTTCTTTTCTTTTCTTTTCTTT		GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLIM4_chr3_168003689_168100924	168100569	G G	GGTGGCTG others(22): Show GGTGGCTGGTCATATTTATAAAGTATCCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0105 a0002c0002t0005g0105	1	226	0.0044	29	c.-52 others(40): Show c.-5285_-5284insTTGGATACTTTATAAATATGACCAGCCAC		GOLIM4	ENSG00000173905.9	transcript	ENST00000470487.6	protein_coding					4646		chr3	TogoVar
GOLM1_chr9_86021146_86104558	86088457	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	303	0.0033	29	c.-21 others(46): Show c.-21-9117_-21-9116insTATATATATATATATATATATATATATA T		GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	1/9						chr9	TogoVar
GOLM1_chr9_86021146_86104558	86103930	A A	ATTAGGGT others(22): Show ATTAGGGTAAGGATCATGAGAGGGGGCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	312	0.0032	29	c.-45 others(40): Show c.-4542_-4541insAGAGCCCCCTCTCATGATCCTTACCCTAA		GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding					4373		chr9	TogoVar

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