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
GALNT16_chr14_69255158_69359466	69322968	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGCGCGCGCACGCGCGCACGCA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02129.hp2 HG02280.hp1 others(2): Show HG01192.hp2 HG02129.hp2 HG02280.hp1 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0023 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0023 a0002c0002t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0110 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0110 a0001c0003t0023g0021 a0002c0002t0001g0291	5	304	0.0164	-34	c.336 others(51): Show c.336-1721_336-1688delTGTGTGTGTGTGCGCGCGCACGCGCGCA CGCATG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71336007	CCTTCTTC others(27): Show CCTTCTTCTTCCTTCTTCTTTCTTCCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp1 others(1): Show HG02109.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0005g0050 others(1): Show a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0005g0050 a0001c0001t0008g0026	4	38	0.1053	-34	c.422 others(49): Show c.422+275_422+308delCTTCTTCTTCCTTCTTCTTTCTTCCTTTTT TTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10			chr7	TogoVar
GALNTL6_chr4_171808404_173046559	172206780	TTGTTTTG others(27): Show TTGTTTTGTTTTGTTTTGTTTTTCTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	40	0.0250	-34	c.139 others(53): Show c.139-22874_139-22841delGTTTTGTTTTGTTTTGTTTTTCTGTT TTTTTTGT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAN_chr16_81309962_81395809	81376526	CATATATG others(27): Show CATATATGTGTATATGTATATACACACATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	382	0.0026	-34	c.150 others(51): Show c.1503-676_1503-643delATATACACACATATACATATATATGTGT ATATGT	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GARIN5B_chr19_55349908_55368260	55361945	CAGACCCA others(27): Show CAGACCCAGGAGTCCAGGGCCCTTAGCTCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG01069.hp2 others(29): Show HG00408.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01884.hp1 HG02055.hp1 HG02071.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA18906.hp2 NA18943.hp1 NA19083.hp2 NA20300.hp2	a0004 a0006 a0008 others(6): Show a0004 a0006 a0008 a0010 a0013 a0014 a0027 a0030 a0036	a0004c0005 a0006c0007 a0008c0010 others(6): Show a0004c0005 a0006c0007 a0008c0010 a0010c0013 a0013c0017 a0014c0015 a0027c0036 a0030c0035 a0036c0040	a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 others(10): Show a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0006c0007t0001 a0006c0007t0002 a0008c0010t0001 a0008c0010t0002 a0010c0013t0002 a0013c0017t0002 a0014c0015t0003 a0027c0036t0002 a0030c0035t0002 a0036c0040t0002	a0004c0005t0001g0018 a0004c0005t0001g0034 a0004c0005t0002g0035 others(16): Show a0004c0005t0001g0018 a0004c0005t0001g0034 a0004c0005t0002g0035 a0004c0005t0002g0119 a0004c0005t0003g0011 a0006c0007t0001g0040 a0006c0007t0001g0126 a0006c0007t0001g0128 a0006c0007t0002g0041 a0006c0007t0002g0129 a0008c0010t0001g0038 a0008c0010t0002g0121 a0010c0013t0002g0039 a0010c0013t0002g0124 a0013c0017t0002g0037 a0014c0015t0003g0036 a0027c0036t0002g0120 a0030c0035t0002g0122 a0036c0040t0002g0125	32	353	0.0907	-34	c.564 others(49): Show c.564+266_564+299delAGGGAGGAGCTAAGGGCCCTGGACTCCTGG GTCT	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GAS2_chr11_22661611_22818001	22686553	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	6	0.1667	-34	c.267 others(49): Show c.267+779_267+812delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GATA6_chr18_22164589_22207528	22204111	TCCCTCCC others(27): Show TCCCTCCCTCTCTCTCTCCCTCTCTCTCTCTCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG02809.hp2 others(2): Show HG01884.hp1 HG02647.hp2 HG02809.hp2 HG03041.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0002 a0001c0001t0001 a0001c0001t0005 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0005g0143 a0001c0001t0005g0144 others(2): Show a0001c0001t0001g0007 a0001c0001t0005g0143 a0001c0001t0005g0144 a0002c0002t0002g0068 a0002c0002t0002g0070	5	284	0.0176	-34	c.32 others(45): Show c.3289_*3322delCCCTCCCTCTCTCTCTCCCTCTCTCTCTCTCTCC	GATA6	ENSG00000141448.11	transcript	ENST00000269216.10	protein_coding		1584		chr18	TogoVar
GCFC2_chr2_75657705_75715915	75672178	TTTATAAA others(27): Show TTTATAAAATATATATTTATATATTTATAAATATG	T T	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0098 a0002c0002t0003g0098	1	402	0.0025	-34	c.189 others(51): Show c.1890-196_1890-163delCATATTTATAAATATATAAATATATATT TTATAA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	13/16			chr2	TogoVar
GCK_chr7_44139275_44194439	44189735	AGAGGAAA others(27): Show AGAGGAAAGGGAGCAGGCAGCTTGGCGTGGCTCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	390	0.0026	-34	c.-81 others(43): Show c.-816_-783delCTGAGCCACGCCAAGCTGCCTGCTCCCTTTCCTC	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding		297		chr7	TogoVar
GCNT3_chr15_59606783_59627723	59611067	CCCTCCCC others(27): Show CCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0001 a0001c0001t0015g0001	1	413	0.0024	-34	c.-11 others(45): Show c.-1164_-1131delCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTTCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		715		chr15	TogoVar
GCNT3_chr15_59606783_59627723	59611084	CCCTCCCC others(27): Show CCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01123.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19062.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0047 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0061 a0001c0001t0062 a0001c0001t0068 a0001c0001t0077 a0001c0003t0078 a0001c0003t0079 a0001c0005t0016	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0065 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0045 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0079 a0001c0001t0004g0001 a0001c0001t0004g0038 a0001c0001t0004g0081 a0001c0001t0005g0001 a0001c0001t0005g0003 a0001c0001t0007g0001 a0001c0001t0007g0003 a0001c0001t0007g0004 a0001c0001t0007g0068 a0001c0001t0010g0001 a0001c0001t0010g0005 a0001c0001t0010g0071 a0001c0001t0010g0076 a0001c0001t0015g0001 a0001c0001t0015g0031 a0001c0001t0017g0001 a0001c0001t0020g0001 a0001c0001t0022g0001 a0001c0001t0023g0016 a0001c0001t0023g0036 a0001c0001t0025g0001 a0001c0001t0027g0078 a0001c0001t0030g0001 a0001c0001t0047g0001 a0001c0001t0048g0001 a0001c0001t0055g0001 a0001c0001t0056g0032 a0001c0001t0061g0008 a0001c0001t0062g0001 a0001c0001t0068g0063 a0001c0001t0077g0001 a0001c0003t0078g0018 a0001c0003t0079g0080 a0001c0005t0016g0031	116	381	0.3045	-34	c.-11 others(45): Show c.-1147_-1114delCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		698		chr15	TogoVar
GDAP1L1_chr20_44242308_44285947	44257821	GCCCCAGA others(27): Show GCCCCAGAACCCTGAGACAGGGGAAGGCCCAGACA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	390	0.0026	-34	c.373 others(49): Show c.373+500_373+533delAGGCCCAGACACCCCAGAACCCTGAGACAG GGGA	GDAP1L1	ENSG00000124194.17	transcript	ENST00000342560.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
GET4_chr7_871554_901436	893485	TGAGTGTT others(27): Show TGAGTGTTGGGTGCGGGCATGGTGGTTGCAGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0085 a0001c0002t0020g0085	1	382	0.0026	-34	c.747 others(49): Show c.747-253_747-220delAGTGTTGGGTGCGGGCATGGTGGTTGCAGG TGAG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GGT1_chr22_24598193_24633996	24605073	AATATATA others(27): Show AATATATAAAGTATATTATATAATATGTATTATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01099.hp2 HG01257.hp2 others(7): Show HG00280.hp2 HG01099.hp2 HG01257.hp2 HG01258.hp1 HG02132.hp2 HG02486.hp2 HG03486.hp1 NA19058.hp1 NA19084.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0368 a0002c0002t0002g0041 a0002c0002t0002g0043 others(7): Show a0001c0001t0002g0368 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0365 a0002c0002t0002g0366 a0002c0002t0002g0367 a0002c0002t0002g0379 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0382	10	424	0.0236	-34	c.-42 others(53): Show c.-429+1547_-429+1580delATATATAAAGTATATTATATAATATG TATTATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GGT1_chr22_24598193_24633996	24605966	CATATAAT others(27): Show CATATAATATATCATATATTATATTTATATAATTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02080.hp1 HG02523.hp1 others(17): Show HG02055.hp1 HG02080.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp2 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18951.hp1 NA18952.hp2 NA19005.hp1 NA19074.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004 a0002c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0002c0002t0001 a0002c0002t0022 a0002c0002t0023 a0002c0002t0029 a0002c0003t0008 a0002c0004t0008 a0002c0011t0005	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(17): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0008g0263 a0001c0001t0011g0058 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0022g0243 a0002c0002t0023g0255 a0002c0002t0029g0258 a0002c0003t0008g0257 a0002c0003t0008g0259 a0002c0003t0008g0260 a0002c0004t0008g0256 a0002c0011t0005g0244	20	271	0.0738	-34	c.-42 others(53): Show c.-428-1868_-428-1835delTTATATTTATATAATTTATATAATAT ATCATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT6_chr17_4551927_4565577	4563133	GTGCTTAG others(27): Show GTGCTTAGTACAGAGCAGTCCCTCCAAAAGCATGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	456	0.0022	-34	c.-26 others(45): Show c.-2646_-2613delTCATGCTTTTGGAGGGACTGCTCTGTACTAAGCA	GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding		2557		chr17	TogoVar
GH1_chr17_63912203_63923839	63912795	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	-34	c.44 others(45): Show c.4480_*4513delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	GH1	ENSG00000259384.7	transcript	ENST00000323322.10	protein_coding		4407		chr17	TogoVar
GHITM_chr10_84134509_84158568	84158270	GCTAGGAG others(27): Show GCTAGGAGGATCTAATTCTAGAGAGAGAAGGCAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	448	0.0022	-34	c.59 others(45): Show c.5923_*5956delCTAGGAGGATCTAATTCTAGAGAGAGAAGGCAGT	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4703		chr10	TogoVar
GHR_chr5_42418439_42726878	42419229	GATATATA others(27): Show GATATATATATATATATATGTCATATTCATGAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG02572.hp1 others(5): Show HG01361.hp2 HG02055.hp2 HG02572.hp1 HG02896.hp1 HG02922.hp1 HG03130.hp1 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0003 a0001c0001t0013 a0001c0001t0015	a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0013g0039 others(5): Show a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066 a0001c0001t0015g0093 a0001c0001t0015g0094	8	128	0.0625	-34	c.-47 others(45): Show c.-4737_-4704delATATATATATATATATATGTCATATTCATGAGAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding		4209		chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232836263	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19077.hp2 NA19080.hp2 NA18956.hp1 NA19077.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0029 a0001c0001t0015g0032 a0001c0001t0015g0033 a0001c0001t0002g0029 a0001c0001t0015g0032 a0001c0001t0015g0033	3	267	0.0112	-34	c.276 others(53): Show c.2766+3204_2766+3237delTATATATATATATATATATATATATA TATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836297	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02486.hp2 NA18522.hp2 others(2): Show HG01123.hp2 HG02486.hp2 NA18522.hp2 NA18969.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0032 a0001c0002t0005 a0001c0001t0004 a0001c0001t0032 a0001c0002t0005	a0001c0001t0004g0077 a0001c0001t0004g0095 a0001c0001t0004g0100 others(2): Show a0001c0001t0004g0077 a0001c0001t0004g0095 a0001c0001t0004g0100 a0001c0001t0032g0079 a0001c0002t0005g0298	5	360	0.0139	-34	c.276 others(53): Show c.2766+3214_2766+3247delTATATATATATATATATATATATACA TATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836316	ATATATAT others(27): Show ATATATATATATATACATATATATACTTATATATT	A A	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	364	0.0027	-34	c.276 others(53): Show c.2766+3234_2766+3267delTATACATATATATACTTATATATTTA TATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GK3_chr4_165272807_165284704	165284362	TTTCTTCC others(27): Show TTTCTTCCACTAGATACCCTAAATCATCTCTCTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	382	0.0026	-34	c.-47 others(45): Show c.-4751_-4718delTGAGAGAGATGATTTAGGGTATCTAGTGGAAGAA	GK3	ENSG00000229894.5	transcript	ENST00000505354.3	protein_coding		4659		chr4	TogoVar
GKN1_chr2_68969636_68985976	68971100	GAGGGGCA others(27): Show GAGGGGCAGAAATTTCTCCACAGCGAAGTGTATTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	462	0.0022	-34	c.-35 others(45): Show c.-3577_-3544delAGGGGCAGAAATTTCTCCACAGCGAAGTGTATTC	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding		3535		chr2	TogoVar
GLG1_chr16_74442440_74612114	74601371	GGAGTTAG others(27): Show GGAGTTAGAGACCAACCTGGGCAACCCGGCAAGAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0077 a0001c0003t0003g0077	1	340	0.0029	-34	c.438 others(51): Show c.438+5252_438+5285delGTCTTGCCGGGTTGCCCAGGTTGGTCTC TAACTC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLIS1_chr1_53501239_53744164	53709377	CATATATA others(27): Show CATATATACATATATATACATATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0011 a0013c0015t0011	a0013c0015t0011g0045 a0013c0015t0011g0045	1	231	0.0043	-34	c.259 others(53): Show c.259+28395_259+28428delATATATATATGTATATGTATATATAT GTATATAT	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS3_chr9_3819127_4305068	4276470	ACGGGAGG others(27): Show ACGGGAGGGGAGGGAAGGGGACGGGAGGGAAGGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0167 a0002c0002t0072g0167	1	188	0.0053	-34	c.388 others(51): Show c.388+9534_388+9567delCCCCTTCCCTCCCGTCCCCTTCCCTCCC CTCCCG	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	2/10			chr9	TogoVar
GLP2R_chr17_9820924_9897099	9879257	AAAATAAA others(27): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00544.hp2 others(68): Show HG00280.hp1 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG02004.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG04184.hp2 NA18942.hp2 NA18943.hp1 NA18950.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18983.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19009.hp2 NA19012.hp2 NA19055.hp2 NA19060.hp2 NA19087.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0017 others(2): Show a0001c0001 a0001c0003 a0001c0017 a0002c0002 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0003t0001 a0001c0003t0004 a0001c0017t0001 a0002c0002t0003 a0008c0010t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(68): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0004g0065 a0001c0001t0007g0297 a0001c0001t0007g0302 a0001c0001t0012g0036 a0001c0003t0001g0196 a0001c0003t0004g0071 a0001c0017t0001g0083 a0002c0002t0003g0209 a0002c0002t0003g0223 a0008c0010t0001g0288	71	378	0.1878	-34	c.114 others(53): Show c.1146-1083_1146-1050delTAAAATAAAATAAAATAAAATAAAAT AAAATAAA	GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA3_chr4_174631920_174834247	174828472	ACGTAGGC others(27): Show ACGTAGGCTTTTAAAATAATTTTTTTTTCTCAGCT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0295 a0001c0001t0016g0295	1	294	0.0034	-34	c.71+ others(47): Show c.71+235_71+268delAGCTGAGAAAAAAAAATTATTTTAAAAGCCTA CG	GLRA3	ENSG00000145451.13	transcript	ENST00000274093.8	protein_coding	1/9			chr4	TogoVar
GLS2_chr12_56465952_56493161	56486930	ACAGAGAC others(27): Show ACAGAGACTCGAGTAGTGGTGAGGTAGTGTTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00558.hp2 others(127): Show HG00280.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18981.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19066.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(53): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0003g0022 a0001c0001t0003g0113 a0001c0001t0003g0125 a0001c0001t0004g0151 a0001c0004t0001g0017 a0001c0004t0001g0018 a0001c0004t0001g0100 a0001c0004t0001g0101 a0001c0005t0001g0008 a0001c0005t0001g0152 a0001c0005t0001g0154 a0001c0007t0001g0093	130	360	0.3611	-34	c.182 others(50): Show c.182+973_182+1006delACACAACACTACCTCACCACTACTCGAGT CTCTG	GLS2	ENSG00000135423.13	transcript	ENST00000311966.9	protein_coding	1/17			chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874082	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0312 a0008c0013t0004g0312	1	311	0.0032	-34	c.69- others(49): Show c.69-1828_69-1795delTTCTTTCTTTCTTTCTCTCTCTCTCTCTCT CTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874090	TTCTTTCT others(27): Show TTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp2 HG01261.hp1 others(3): Show HG00639.hp2 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0089 a0001c0002t0001g0304 others(3): Show a0001c0002t0001g0034 a0001c0002t0001g0089 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0310 a0001c0002t0001g0311	6	293	0.0205	-34	c.69- others(49): Show c.69-1812_69-1779delCTCTCTCTCTCTCTCTCTCTCTCTCTTTCT TTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128874110	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19070.hp1 NA19060.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0169 a0001c0001t0003g0214 a0001c0001t0001g0169 a0001c0001t0003g0214	2	308	0.0065	-34	c.69- others(49): Show c.69-1800_69-1767delCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT1D1_chr12_128848478_128989968	128971436	CCCTCCCT others(27): Show CCCTCCCTTCCTCTCTCCCTCCATCCCTCCCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18943.hp2 HG00609.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0133 a0001c0002t0002g0151 a0001c0002t0001g0133 a0001c0002t0002g0151	2	318	0.0063	-34	c.880 others(53): Show c.880-11485_880-11452delTCCTCTCTCCCTCCATCCCTCCCTCT GCCTCCCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103990078	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00597.hp2 others(58): Show HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG01123.hp2 HG01975.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19060.hp2 NA19066.hp1 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0008	a0001c0001t0002g0351 a0001c0001t0002g0377 a0001c0001t0002g0387 others(56): Show a0001c0001t0002g0351 a0001c0001t0002g0377 a0001c0001t0002g0387 a0001c0001t0002g0396 a0001c0001t0003g0185 a0001c0001t0003g0186 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0013 a0002c0002t0001g0020 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0404 a0002c0002t0001g0405 a0002c0002t0008g0406	61	81	0.7531	-34	c.881 others(49): Show c.881-535_881-502delATATATATATATATATATATATATATATAT ATAT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	10/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022022	AAAAGAAG others(27): Show AAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	414	0.0024	-34	c.-16 others(51): Show c.-163-565_-163-532delCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GMDS_chr6_1618806_2250605	1652443	TTTATATA others(27): Show TTTATATATTATTTATATATAATATATTATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp1 others(9): Show HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0077 others(9): Show a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0002g0004 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0085 a0001c0001t0002g0115 a0001c0001t0002g0130 a0002c0003t0001g0001	12	164	0.0732	-34	c.988 others(53): Show c.988-27937_988-27904delTATATATAATATATTATATATAAATA ATATATAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63607843	CTGACCCC others(27): Show CTGACCCCACCTCCATTTCTAGAAACATGCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp2 HG00735.hp2 others(22): Show HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG02074.hp1 HG02257.hp2 HG02258.hp2 HG02683.hp2 HG02965.hp1 HG02976.hp1 HG03209.hp2 HG03654.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0011 a0001c0012t0001 a0001c0001t0001 a0001c0001t0011 a0001c0012t0001	a0001c0001t0001g0114 a0001c0001t0001g0185 a0001c0001t0001g0192 others(22): Show a0001c0001t0001g0114 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0011g0261 a0001c0012t0001g0108	25	308	0.0812	-34	c.132 others(51): Show c.132-3037_132-3004delCAGGGGCATGTTTCTAGAAATGGAGGTG GGGTCA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608623	CTGACCTC others(27): Show CTGACCTCACCTCCATTTCTAGAAACATGCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00621.hp2 others(89): Show HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18953.hp2 NA18955.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA18984.hp2 NA19067.hp2 NA19080.hp2 NA19081.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0011 others(1): Show a0001c0001 a0001c0008 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 others(82): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0079 a0001c0001t0001g0120 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0275 a0001c0001t0001g0289 a0001c0001t0009g0205 a0001c0001t0009g0221 a0001c0001t0015g0222 a0001c0001t0016g0240 a0001c0008t0001g0028 a0001c0011t0001g0246 a0001c0012t0001g0108	92	328	0.2805	-34	c.132 others(51): Show c.132-3817_132-3784delCAGGGGCATGTTTCTAGAAATGGAGGTG AGGTCA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNA15_chr19_3131033_3168749	3135837	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02615.hp1 others(1): Show HG01891.hp2 HG02486.hp1 HG02615.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 others(1): Show a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0009t0001g0264	4	419	0.0095	-34	c.-61 others(43): Show c.-613_-580delAAAAAAATATATATATATATATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		195		chr19	TogoVar
GNAO1_chr16_56186489_56362444	56300031	GTGTGTGC others(27): Show GTGTGTGCGCGCGCGCGCGCGCACGCACATGTGCT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	296	0.0034	-34	c.303 others(53): Show c.303+23964_303+23997delTGCGCGCGCGCGCGCGCACGCACATG TGCTTGTG	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GNG12_chr1_67696475_67838467	67709877	TTTATATA others(27): Show TTTATATATATAGTTATATATATATTTTTATATAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	267	0.0037	-34	c.-26 others(51): Show c.-26-2199_-26-2166delCTATATAAAAATATATATATAACTATAT ATATAA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG13_chr16_793041_805734	798216	GTGGGGCC others(27): Show GTGGGGCCGGGCGTGGTCTCACAGGATGGAGTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG03139.hp1 HG06807.hp2 others(2): Show HG02451.hp1 HG03139.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	5	420	0.0119	-34	c.46 others(43): Show c.469_*502delTTCACTCCATCCTGTGAGACCACGCCCGGCCCCA	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding	3/3	469		chr16	TogoVar
GNG8_chr19_46628953_46641202	46634404	TCCCTCCC others(27): Show TCCCTCCCCTCGTCCTGGCCCCTCCCCTGTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	435	0.0023	-34	c.84+ others(47): Show c.84+161_84+194delGCAGAACAGGGGAGGGGCCAGGACGAGGGGAG GG	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	2/2			chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132817709	CGCCCTCC others(27): Show CGCCCTCCACACCTCCACGCTCTAAGGTGAACCCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0192 a0002c0010t0009g0192	1	298	0.0034	-34	c.134 others(49): Show c.134-931_134-898delTGGGTTCACCTTAGAGCGTGGAGGTGTGGA GGGC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817775	CGCCCTCC others(27): Show CGCCCTCCACTCCTCCACGCTCTAAGGTGAACCCG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	301	0.0033	-34	c.134 others(49): Show c.134-997_134-964delCGGGTTCACCTTAGAGCGTGGAGGAGTGGA GGGC	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817779	CTCCACTC others(27): Show CTCCACTCCTCCACGCTCTAAGGTGAACCCGCACT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp2 HG01106.hp2 others(19): Show HG00438.hp1 HG00642.hp2 HG01106.hp2 HG01255.hp1 HG01993.hp1 HG02056.hp2 HG02155.hp2 HG02280.hp1 HG02293.hp1 HG02523.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp1 HG04115.hp2 HG04204.hp1 NA18951.hp1 NA18956.hp1 NA18957.hp2 NA19058.hp2 NA19064.hp2 NA19088.hp1 NA20129.hp1	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0017	a0001c0001 a0001c0003 a0001c0019 others(3): Show a0001c0001 a0001c0003 a0001c0019 a0002c0010 a0013c0035 a0017c0025	a0001c0001t0073 a0001c0003t0001 a0001c0003t0004 others(9): Show a0001c0001t0073 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0039 a0001c0003t0040 a0001c0003t0045 a0001c0003t0054 a0001c0019t0004 a0002c0010t0004 a0013c0035t0004 a0017c0025t0004	a0001c0001t0073g0096 a0001c0003t0001g0210 a0001c0003t0001g0214 others(19): Show a0001c0001t0073g0096 a0001c0003t0001g0210 a0001c0003t0001g0214 a0001c0003t0001g0228 a0001c0003t0004g0203 a0001c0003t0004g0204 a0001c0003t0004g0206 a0001c0003t0004g0209 a0001c0003t0004g0215 a0001c0003t0004g0219 a0001c0003t0004g0223 a0001c0003t0004g0225 a0001c0003t0011g0208 a0001c0003t0011g0218 a0001c0003t0039g0217 a0001c0003t0040g0211 a0001c0003t0045g0207 a0001c0003t0054g0213 a0001c0019t0004g0221 a0002c0010t0004g0202 a0013c0035t0004g0224 a0017c0025t0004g0212	22	280	0.0786	-34	c.134 others(50): Show c.134-1001_134-968delAGTGCGGGTTCACCTTAGAGCGTGGAGGA GTGGA	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132831071	AAAAAACC others(27): Show AAAAAACCATACACACACACAAACAGAAGACAAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0296 a0002c0002t0002g0296	1	306	0.0033	-34	c.-24 others(45): Show c.-2486_-2453delGCTTGTCTTCTGTTTGTGTGTGTGTATGGTTTTT	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding		2203		chr12	TogoVar
GOLGA4_chr3_37238271_37371879	37257906	TATATATA others(27): Show TATATATATGTATGTATATATGTATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0267 a0002c0002t0002g0268	2	265	0.0075	-34	c.162 others(51): Show c.162+6465_162+6498delGTATGTATATATGTATATATACATACAT ATATAT	GOLGA4	ENSG00000144674.19	transcript	ENST00000361924.7	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
GOLGA8A_chr15_34374068_34442808	34431291	TTATATAT others(27): Show TTATATATATATATATATATACATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02572.hp1 HG02630.hp1 others(5): Show HG02027.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03486.hp1	a0004 a0012 a0028 others(2): Show a0004 a0012 a0028 a0031 a0033	a0004c0004 a0012c0010 a0028c0036 others(2): Show a0004c0004 a0012c0010 a0028c0036 a0031c0034 a0033c0033	a0004c0004t0003 a0012c0010t0011 a0028c0036t0038 others(2): Show a0004c0004t0003 a0012c0010t0011 a0028c0036t0038 a0031c0034t0021 a0033c0033t0021	a0004c0004t0003g0204 a0012c0010t0011g0016 a0012c0010t0011g0017 others(5): Show a0004c0004t0003g0204 a0012c0010t0011g0016 a0012c0010t0011g0017 a0012c0010t0011g0018 a0012c0010t0011g0019 a0028c0036t0038g0015 a0031c0034t0021g0149 a0033c0033t0021g0148	8	68	0.1176	-34	c.-11 others(55): Show c.-1123+4058_-1123+4091delTATATATATATATGTATATATATA TATATATATA	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	2/24			chr15	TogoVar

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