Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GLG1_chr16_74442440_74612114	74498467	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	334	0.0030	27	c.775 others(44): Show c.775-1824_775-1823insTATATATATATATATATATATATATAT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540001	A A	ATATTATA others(20): Show ATATTATATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01358.hp2 HG01496.hp1 others(18): Show HG01256.hp2 HG01358.hp2 HG01496.hp1 HG01943.hp2 HG02155.hp2 HG02165.hp1 HG02683.hp1 HG03490.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 NA18944.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18973.hp1 NA19065.hp1 NA19081.hp2 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0001t0032 a0001c0005t0006	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 others(18): Show a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0005g0119 a0001c0001t0005g0130 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0019g0272 a0001c0001t0019g0281 a0001c0001t0032g0132 a0001c0005t0006g0274	21	222	0.0946	27	c.439 others(44): Show c.439-7849_439-7848insAAATATATATATAATATATATATAATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74540001	A A	ATTTTATA others(20): Show ATTTTATATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18967.hp2 NA18747.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0142 a0001c0001t0005g0122 a0001c0001t0002g0142 a0001c0001t0005g0122	2	203	0.0099	27	c.439 others(44): Show c.439-7849_439-7848insAAATATATATATAATATATATATAAAA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(20): Show GGAAGGGAGGAAGGAAGGAAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG01168.hp1 others(17): Show HG00544.hp1 HG01069.hp2 HG01168.hp1 HG01169.hp1 HG01516.hp2 HG01517.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02622.hp2 HG02922.hp2 HG03453.hp1 HG03927.hp2 HG04228.hp1 NA18522.hp1 NA18989.hp1 NA18999.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0026 a0001c0001t0035 a0001c0003t0011 a0001c0004t0001	a0001c0001t0001g0060 a0001c0001t0001g0179 a0001c0001t0001g0194 others(17): Show a0001c0001t0001g0060 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0002g0099 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0014g0172 a0001c0001t0014g0176 a0001c0001t0026g0248 a0001c0001t0035g0138 a0001c0003t0011g0330 a0001c0004t0001g0089 a0001c0004t0001g0204 a0001c0004t0001g0213 a0001c0004t0001g0215	20	140	0.1429	27	c.439 others(46): Show c.439-10556_439-10555insTTCCTCCCTTCCTTCCTTCCTCCCTT C	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(20): Show GGAAGGGAGGAAGGAAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0184 a0001c0004t0001g0184	1	121	0.0083	27	c.439 others(46): Show c.439-10556_439-10555insTTCCTCCCTCCCTTCCTTCCTCCCTT C	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(20): Show GGAAGGGAGGAAGGGAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0304 a0001c0001t0041g0304	1	121	0.0083	27	c.439 others(46): Show c.439-10556_439-10555insTTCCTCCCTCCCTCCCTTCCTCCCTT C	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74587133	T T	TTGTGAAC others(20): Show TTGTGAACGAGACACAATATATGACGTA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	340	0.0029	27	c.438 others(46): Show c.438+19497_438+19523dupTACGTCATATATTGTGTCTCGTTCAC A	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(20): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(78): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01928.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02886.hp1 HG02970.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0002c0001 a0002c0009 others(2): Show a0001c0002 a0002c0001 a0002c0009 a0003c0004 a0006c0014	a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 others(3): Show a0001c0002t0001 a0002c0001t0001 a0002c0001t0003 a0002c0009t0001 a0003c0004t0002 a0006c0014t0001	a0001c0002t0001g0003 a0001c0002t0001g0031 a0001c0002t0001g0042 others(20): Show a0001c0002t0001g0003 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0073 a0001c0002t0001g0076 a0002c0001t0001g0002 a0002c0001t0001g0032 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0112 a0002c0001t0003g0002 a0002c0001t0003g0090 a0002c0001t0003g0091 a0002c0001t0003g0094 a0002c0009t0001g0002 a0003c0004t0002g0041 a0006c0014t0001g0031	81	130	0.6231	27	c.-37 others(42): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGTTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLO1_chr6_38670925_38708145	38705348	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTCTTTCTTTATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	404	0.0025	27	c.-22 others(38): Show c.-2295_-2294insCAAATAAAGAAAGAAGAAAGAAAGAAA	GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding		2204		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01071.hp1 others(24): Show HG00140.hp1 HG00280.hp1 HG01071.hp1 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp1 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03654.hp1 HG04115.hp1 NA18522.hp1 NA18956.hp1 NA18973.hp1 NA18974.hp1 NA18981.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0042 others(15): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0150 a0001c0001t0002g0165	27	36	0.7500	27	c.201 others(44): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAA	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(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0209 a0002c0002t0003g0209	1	19	0.0526	27	c.114 others(46): Show c.1145+2744_1145+2745insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849188	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	249	0.0040	27	c.912 others(44): Show c.912+2201_912+2202insGAAAGAAAGAAAGAAAGAAAGAAAGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681906	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	204	0.0049	27	c.931 others(44): Show c.931-8804_931-8803insTATATATATATATATATATATATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0059 a0001c0002t0008g0059	1	107	0.0093	27	c.931 others(44): Show c.931-8799_931-8798insAAAAAAAAAAATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02922.hp2 others(2): Show HG02572.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0016 a0001c0003t0004 a0001c0001t0002 a0001c0002t0016 a0001c0003t0004	a0001c0001t0002g0006 a0001c0001t0002g0075 a0001c0002t0016g0175 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0075 a0001c0002t0016g0175 a0001c0003t0004g0180 a0001c0003t0004g0190	5	111	0.0450	27	c.931 others(44): Show c.931-8799_931-8798insAAAAAAAAATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	107	0.0093	27	c.931 others(44): Show c.931-8799_931-8798insAAAAAAATATATATATATATATATATA	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA3_chr4_174631920_174834247	174649746	T T	TGGACGCA others(20): Show TGGACGCAAAACTCTATCCAAGAGTTCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02451.hp2 others(3): Show HG01884.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0021 a0001c0001t0069 a0001c0003t0021 others(2): Show a0001c0001t0021 a0001c0001t0069 a0001c0003t0021 a0001c0003t0070 a0001c0009t0071	a0001c0001t0021g0005 a0001c0001t0021g0263 a0001c0001t0069g0056 others(3): Show a0001c0001t0021g0005 a0001c0001t0021g0263 a0001c0001t0069g0056 a0001c0003t0021g0149 a0001c0003t0070g0023 a0001c0009t0071g0196	6	294	0.0204	27	c.111 others(46): Show c.1117-5709_1117-5683dupTGAACTCTTGGATAGAGTTTTGCGTC C	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	9/9			chr4	TogoVar
GLT1D1_chr12_128848478_128989968	128956158	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	156	0.0064	27	c.781 others(44): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128973179	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	97	0.0103	27	c.880 others(44): Show c.880-9749_880-9723dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620231	T T	TTCTCCCC others(20): Show TTCTCCCCCATCTCCCCCGTCTCTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0068 a0002c0004t0003g0068	1	396	0.0025	27	c.38 others(38): Show c.3865_*3866insCGGGAGAGACGGGGGAGATGGGGGAGA	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3416		chr9	TogoVar
GLT8D2_chr12_103983987_104055187	104045891	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	411	0.0024	27	c.-16 others(46): Show c.-164+4003_-164+4004insCTTTCTTTCTTTCTTTCTTTCTTTCT T	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYR1_chr16_4798203_4852288	4802474	T T	TCGCGCCC others(20): Show TCGCGCCCGGCCCCGCCGCCCCGCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0138 a0001c0001t0008g0138	1	350	0.0029	27	c.27 others(38): Show c.2735_*2761dupGCCGGCGGGGCGGCGGGGCCGGGCGCG	GLYR1	ENSG00000140632.17	transcript	ENST00000321919.14	protein_coding		728		chr16	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03654.hp1 HG02145.hp1 HG03654.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0020 a0002c0002t0002 a0004c0004t0020	a0002c0002t0002g0000 a0004c0004t0020g0000 a0002c0002t0002g0000 a0004c0004t0020g0000	2	27	0.0741	27	c.-17 others(36): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652428	A A	ATATTTAT others(20): Show ATATTTATATATAATATATATTATTTAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01175.hp2 HG01952.hp2 others(12): Show HG00558.hp1 HG01175.hp2 HG01952.hp2 HG02135.hp1 HG02273.hp2 NA18612.hp1 NA18970.hp1 NA18994.hp1 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19063.hp1 NA19079.hp1 NA19082.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0058 others(12): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0058 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0002t0001g0018 a0001c0002t0001g0071 a0001c0002t0001g0074 a0001c0002t0001g0101 a0001c0002t0001g0118 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0002g0119	15	162	0.0926	27	c.988 others(46): Show c.988-27889_988-27888insATAAATAATATATATTATATATAAAT A	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	122	0.0082	27	c.345 others(46): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMPPA_chr2_219493891_219511989	219500491	T T	TAAAGCCG others(20): Show TAAAGCCGTAGCATGGAGACTCTTAATG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	380	0.0026	27	c.138 others(42): Show c.138+275_138+301dupAAGCCGTAGCATGGAGACTCTTAATGA	GMPPA	ENSG00000144591.20	transcript	ENST00000313597.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAATCT others(20): Show AAAAATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0345 a0001c0001t0005g0345	1	33	0.0303	27	c.145 others(44): Show c.145+3450_145+3451insAAATCTATCTATCTATCTATCTATCTA	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(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA19067.hp1 HG02071.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0018 a0001c0002t0001 a0001c0002t0018	a0001c0002t0001g0134 a0001c0002t0018g0093 a0001c0002t0001g0134 a0001c0002t0018g0093	2	124	0.0161	27	c.146 others(44): Show c.146-3231_146-3230insATATATATATATATATATATATATATT	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(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	123	0.0081	27	c.146 others(44): Show c.146-3231_146-3230insATATATATATATATATATATATATTTT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11788914	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0166	a0001c0001t0166g0033 a0001c0001t0166g0033	1	24	0.0417	27	c.624 others(46): Show c.624+34970_624+34971insAAAAAAAAAAATATATATATATATAT A	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11788914	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0067 a0001c0001t0041g0067	1	25	0.0400	27	c.393 others(46): Show c.393+34970_393+34971insAAAAAAAAAAATATATATATATATAT A	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAQ_chr9_77711097_78036811	78032739	C C	CAGAGAAA others(20): Show CAGAGAAAGGAAGCTGCCCAAGTTTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02717.hp2 HG03098.hp1 HG02055.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0041 a0001c0001t0013g0038 a0001c0001t0013g0039 a0001c0001t0009g0041 a0001c0001t0013g0038 a0001c0001t0013g0039	3	280	0.0107	27	c.-15 others(38): Show c.-1505_-1504insTGGAAACTTGGGCAGCTTCCTTTCTCT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding		929		chr9	TogoVar
GNAS_chr20_58886421_58916192	58891678	G G	GCCCGCCG others(20): Show GCCCGCCGCCGCCGCAGCCCGGCCGCGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	429	0.0023	27	c.-34 others(33): Show c.-34_-8dupAGCCCGGCCGCGCCCCGCCGCCGCCGC	GNAS	ENSG00000087460.29	transcript	ENST00000371085.8	protein_coding	1/13	7	INFO_REALIGN_3_PRIME	chr20	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18954.hp1 NA19064.hp2 NA18951.hp1 NA18954.hp1 NA19064.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0003 a0004c0004t0005 a0002c0002t0003 a0004c0004t0005	a0002c0002t0003g0046 a0004c0004t0005g0010 a0002c0002t0003g0046 a0004c0004t0005g0010	3	282	0.0106	27	c.-21 others(44): Show c.-21+6639_-21+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTT	GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7			chr22	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp2 HG01261.hp2 others(1): Show HG01243.hp2 HG01255.hp2 HG01261.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0001t0001 a0001c0001t0019 a0001c0002t0001	a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0019g0332 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0019g0332 a0001c0002t0001g0212	4	78	0.0513	27	c.-95 others(46): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTTT T	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB1_chr1_1780286_1896087	1891556	G G	GCCCCCCC others(20): Show GCCCCCCCCCCCCCCCCCCCCCACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	334	0.0030	27	c.-83 others(36): Show c.-833_-832insGGGGGTGGGGGGGGGGGGGGGGGGGGG	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding		470		chr1	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0126 a0001c0003t0126	a0001c0003t0126g0349 a0001c0003t0126g0349	1	159	0.0063	27	c.56 others(38): Show c.5654_*5655insAAAAAAAAATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNG11_chr7_93916735_93933610	93930221	C C	CCTTTCTT others(20): Show CCTTTCTTTCTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	416	0.0024	27	c.40 others(38): Show c.4005_*4006insCTTTCTTTCTTCTTTCTTTCTTTCTTT	GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding		1612		chr7	TogoVar
GNG12_chr1_67696475_67838467	67763120	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	270	0.0037	27	c.-27 others(46): Show c.-27+14337_-27+14338insCTCTCTCTCTCTCTCTCTCTCTCTCT C	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG4_chr1_235542685_235654784	235625567	T T	TCAACCCT others(20): Show TCAACCCTCCCCAACGCCACATTCAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0309 a0001c0002t0046g0309	1	328	0.0030	27	c.-12 others(48): Show c.-123+24068_-123+24094dupCTCTGAATGTGGCGTTGGGGAGGG TTG	GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3			chr1	TogoVar
GNG7_chr19_2506219_2707694	2567331	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	45	0.0222	27	c.-77 others(46): Show c.-77-12144_-77-12143insCACACACACACACACACACACACACA C	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2638452	A A	AGGGGGAG others(20): Show AGGGGGAGGGGAGGGGAGGAAAGGGGCG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	202	0.0050	27	c.-78 others(44): Show c.-78+7771_-78+7772insCGCCCCTTTCCTCCCCTCCCCTCCCCC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2639734	A A	AGAATGAG others(20): Show AGAATGAGGGAGGGGAGGGGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0168 a0001c0001t0084g0168	1	70	0.0143	27	c.-78 others(44): Show c.-78+6489_-78+6490insCTTCCTCCCCCCTCCCCTCCCTCATTC	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2649390	A A	AATTATTA others(20): Show AATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00642.hp2 others(17): Show HG00423.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01168.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG02559.hp2 HG02965.hp2 HG06807.hp2 NA18612.hp1 NA19011.hp1 NA19012.hp1 NA19068.hp2 NA19079.hp2 NA19082.hp2 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0027 a0001c0001t0051	a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0096 others(17): Show a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0161 a0001c0001t0002g0107 a0001c0001t0002g0172 a0001c0001t0004g0093 a0001c0001t0005g0032 a0001c0001t0007g0105 a0001c0001t0008g0029 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0012g0128 a0001c0001t0014g0026 a0001c0001t0015g0075 a0001c0001t0015g0136 a0001c0001t0015g0137 a0001c0001t0016g0070 a0001c0001t0027g0175 a0001c0001t0051g0011	20	113	0.1770	27	c.-13 others(46): Show c.-134-3111_-134-3110insAATAATAATAATAATAATAATAATAA T	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNG7_chr19_2506219_2707694	2657337	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0155 a0001c0001t0019g0155	1	181	0.0055	27	c.-13 others(48): Show c.-134-11058_-134-11057insTTTTTTTTTTTTTTTTTTTTTTTT TTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GNL3L_chrX_54525219_54572289	54530148	G G	GCCCGCCC others(20): Show GCCCGCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	22	0.0455	27	c.-31 others(36): Show c.-319_-318insCCCGCCCCCCCCCCCCCCCCCCCCCCC	GNL3L	ENSG00000130119.17	transcript	ENST00000360845.3	protein_coding		70		chrX	TogoVar
GNPTAB_chr12_101740499_101835959	101824433	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18961.hp2 NA18983.hp1 others(1): Show NA18947.hp1 NA18961.hp2 NA18983.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0251 others(1): Show a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0251 a0001c0003t0003g0142	4	286	0.0140	27	c.117 others(44): Show c.117+6125_117+6126insTATATATATATATATATATATATATAT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20			chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833178	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	353	0.0028	27	c.-25 others(38): Show c.-2504_-2503insATATATATATATATATATATATATATA	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2220		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0268 a0001c0024t0004g0268	1	45	0.0222	27	c.-25 others(38): Show c.-2508_-2507insATATATATATATATATATATATATTTT	GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding		2224		chr12	TogoVar
GOLGA6L6_chr15_20526856_20546800	20537053	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0062 a0001c0001t0004g0062	1	123	0.0081	27	c.544 others(42): Show c.544-182_544-181insGAAAGAAAGAAAGAAAGAAAGAAAGAA	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	5/8			chr15	TogoVar

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