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
GAGE12H_chrX_49574949_49592301	49576463	TATTTATT others(20): Show TATTTATTTATTTATTTATTTATTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp2 others(29): Show HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00735.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01361.hp2 HG01884.hp2 HG02080.hp1 HG02293.hp2 HG02723.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG03927.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18957.hp1 NA18957.hp2 NA18979.hp2 NA18998.hp2 NA19080.hp2 NA19081.hp1 NA19240.hp1 NA20905.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0005c0007 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0005c0007t0002 a0006c0010t0001	a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0002g0001 others(26): Show a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0049 a0001c0001t0004g0011 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0006g0001 a0001c0004t0001g0040 a0001c0004t0001g0070 a0002c0003t0001g0082 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0083 a0002c0003t0005g0077 a0002c0003t0005g0078 a0005c0007t0002g0012 a0006c0010t0001g0014	32	116	0.2759	-27	c.-36 others(38): Show c.-3601_-3575delATTTATTTATTTATTTATTTATTTATC	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding		3485		chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49322223	CCGCTTCC others(20): Show CCGCTTCCTGGTCTGTGGCCTCCGAGGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	193	0.0052	-27	c.-9+ others(39): Show c.-9+80_-9+106delCGCTTCCTGGTCTGTGGCCTCCGAGGG	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	1/4			chrX	TogoVar
GAGE1_chrX_49594020_49613538	49595533	TATTTATT others(20): Show TATTTATTTATTTATTTATTTATTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02451.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG03017.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19064.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19087.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0005c0010	a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 others(10): Show a0001c0001t0006 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0022 a0002c0003t0002 a0002c0003t0003 a0002c0006t0010 a0005c0010t0001	a0001c0001t0006g0020 a0002c0002t0002g0002 a0002c0002t0002g0010 others(55): Show a0001c0001t0006g0020 a0002c0002t0002g0002 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0029 a0002c0002t0002g0040 a0002c0002t0002g0057 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0116 a0002c0002t0003g0003 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0017 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0037 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0051 a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0068 a0002c0002t0003g0118 a0002c0002t0005g0003 a0002c0002t0005g0124 a0002c0002t0009g0002 a0002c0002t0012g0026 a0002c0002t0013g0123 a0002c0002t0014g0054 a0002c0002t0022g0002 a0002c0003t0002g0002 a0002c0003t0002g0066 a0002c0003t0002g0115 a0002c0003t0003g0050 a0002c0006t0010g0059 a0005c0010t0001g0075	106	309	0.3430	-27	c.-36 others(38): Show c.-3602_-3576delATTTATTTATTTATTTATTTATTTATC	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding		3486		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49595533	TATTTATT others(20): Show TATTTATTTATTTATTTATTTATTTATC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(48): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02300.hp1 HG02683.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04184.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18980.hp1 NA18980.hp2 NA18992.hp1 NA18992.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19074.hp1 NA19083.hp1 NA19086.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0009 a0002c0001 a0003c0003 others(1): Show a0001c0009 a0002c0001 a0003c0003 a0004c0007	a0001c0009t0001 a0002c0001t0001 a0002c0001t0002 others(3): Show a0001c0009t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0003c0003t0001 a0004c0007t0002	a0001c0009t0001g0047 a0002c0001t0001g0001 a0002c0001t0001g0008 others(23): Show a0001c0009t0001g0047 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0015 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0038 a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0032 a0002c0001t0002g0033 a0002c0001t0002g0034 a0002c0001t0002g0035 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0084 a0002c0001t0005g0080 a0002c0001t0005g0081 a0003c0003t0001g0023 a0004c0007t0002g0082	51	129	0.3953	-27	c.329 others(44): Show c.329-1174_329-1148delTATTTATTTATTTATTTATTTATCATT	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	927491	AGTCCGCA others(20): Show AGTCCGCACCCCTCCCCGCTCACCTGCG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	388	0.0026	-27	c.145 others(44): Show c.145+4525_145+4551delCGCAGGTGAGCGGGGAGGGGTGCGGAC	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	936590	CAACAAAT others(20): Show CAACAAATTCAGCAGCTTACACTAAACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG03704.hp1 HG03710.hp2 HG02135.hp1 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0007g0351 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0007g0351	3	388	0.0077	-27	c.-44 others(38): Show c.-4430_-4404delCGTTTAGTGTAAGCTGCTGAATTTGTT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding		4275		chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241805331	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	306	0.0033	-27	c.11 others(38): Show c.1166_*1192delCCCCCTCAGCCCAGGAACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1045		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805409	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	307	0.0033	-27	c.12 others(38): Show c.1244_*1270delCCCCCTCAGCCCAGGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1123		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805448	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	306	0.0033	-27	c.12 others(38): Show c.1283_*1309delCCCCCTCAGCCCAGGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1162		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805487	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	310	0.0032	-27	c.13 others(38): Show c.1322_*1348delCCCCCTCAGCCCAGGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1201		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806159	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	279	0.0036	-27	c.19 others(38): Show c.1994_*2020delCCCCCTCAGCCCAGGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1873		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806194	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG03471.hp1 HG00323.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0188 a0002c0002t0001g0130 a0001c0001t0001g0188 a0002c0002t0001g0130	2	296	0.0068	-27	c.20 others(38): Show c.2029_*2055delCCCCCTCAGCCCAGGAACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1908		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806993	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG02132.hp2 others(5): Show HG00733.hp1 HG02109.hp1 HG02132.hp2 HG03834.hp2 HG04228.hp2 HG06807.hp1 NA18945.hp2 NA18971.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0173 a0001c0001t0001g0216 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0173 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0002g0002 a0002c0002t0001g0041 a0002c0002t0002g0118 a0003c0003t0001g0061	8	294	0.0272	-27	c.28 others(38): Show c.2828_*2854delCCCCCTCAGCCCAGGAACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2707		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807223	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	309	0.0032	-27	c.30 others(38): Show c.3058_*3084delCCCCCTCAGCCCAGGAACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2937		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807380	CCCCCTCA others(20): Show CCCCCTCACGCCAGGGACCCGGGAAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	312	0.0032	-27	c.32 others(38): Show c.3215_*3241delCCCCTCACGCCAGGGACCCGGGAAGAG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3094		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807940	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0045 a0003c0007t0001g0045	1	311	0.0032	-27	c.37 others(38): Show c.3775_*3801delCCCCCTCAGCCCAGGGACCTCCGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3654		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807979	CCCCCCTC others(20): Show CCCCCCTCAGCCCAGGGACCTCTGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	305	0.0033	-27	c.38 others(38): Show c.3814_*3840delCCCCCTCAGCCCAGGGACCTCTGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3693		chr2	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp1 HG01928.hp2 others(9): Show HG00323.hp2 HG01074.hp1 HG01928.hp2 HG02083.hp1 HG02258.hp2 HG03471.hp1 HG03704.hp2 NA18940.hp2 NA18944.hp2 NA18969.hp1 NA19068.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0042 a0002c0004t0010	a0001c0001t0001g0273 a0001c0001t0001g0299 a0001c0001t0001g0300 others(9): Show a0001c0001t0001g0273 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0325 a0001c0001t0002g0114 a0001c0001t0010g0037 a0001c0001t0019g0096 a0001c0001t0022g0326 a0001c0001t0042g0274 a0002c0004t0010g0038	12	13	0.9231	-27	c.505 others(44): Show c.505-4827_505-4801delTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675524	TTGTTTTT others(20): Show TTGTTTTTTTTTTTTTTTTTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	291	0.0034	-27	c.191 others(42): Show c.191-384_191-358delTTTTTTTTTTTTTTTTTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703065	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0227 a0001c0001t0013g0227	1	326	0.0031	-27	c.634 others(46): Show c.634+13172_634+13198delATATATATATATATATATATATATAT A	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6			chr2	TogoVar
GALM_chr2_38661114_38739765	38703068	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18948.hp2 HG00558.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0240 a0001c0001t0001g0243	2	313	0.0064	-27	c.634 others(46): Show c.634+13176_634+13202delATATATATATATATATATATATATTT T	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703070	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0012 a0002c0002t0006 a0002c0002t0012	a0002c0002t0006g0232 a0002c0002t0012g0236 a0002c0002t0006g0232 a0002c0002t0012g0236	2	311	0.0064	-27	c.634 others(46): Show c.634+13178_634+13204delATATATATATATATATATATATTTTT T	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703072	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0001 a0002c0002t0009g0001	1	326	0.0031	-27	c.634 others(46): Show c.634+13180_634+13206delATATATATATATATATATATTTTTTT T	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp2 HG01884.hp1 others(15): Show HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp2 HG02451.hp2 HG02809.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0014 others(14): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0281 a0001c0001t0008g0028 a0001c0001t0008g0029	18	26	0.6923	-27	c.123 others(44): Show c.1233+330_1233+356delTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT14_chr2_30905467_31143440	31099308	CATTTTTA others(20): Show CATTTTTATTGACCCTTTGGAACTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02486.hp2 others(6): Show HG01884.hp2 HG01934.hp1 HG02486.hp2 HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0125 others(6): Show a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0002g0195	9	224	0.0402	-27	c.129 others(46): Show c.129+38623_129+38649delAAAGAGTTCCAAAGGGTCAATAAAAA T	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT17_chr7_71127144_71718599	71486334	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02451.hp1 others(2): Show HG02109.hp1 HG02280.hp2 HG02451.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0038 others(2): Show a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0038 a0001c0001t0004g0048 a0001c0001t0008g0026	5	7	0.7143	-27	c.962 others(46): Show c.962+65258_962+65284delATAATAATAATAATAATAATAATAAT A	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT5_chr2_157252705_157323491	157256570	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01192.hp1 HG02293.hp1 HG01123.hp2 HG01192.hp1 HG02293.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0007c0012t0021 a0001c0001t0001 a0007c0012t0021	a0001c0001t0001g0058 a0001c0001t0001g0059 a0007c0012t0021g0141 a0001c0001t0001g0058 a0001c0001t0001g0059 a0007c0012t0021g0141	3	229	0.0131	-27	c.-15 others(38): Show c.-1512_-1486delTATATATATATATATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1134		chr2	TogoVar
GALNT7_chr4_173163811_173328967	173167583	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG02257.hp2 HG02572.hp1 others(4): Show HG01346.hp1 HG02257.hp2 HG02572.hp1 HG03041.hp2 NA19005.hp1 NA19064.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0100 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0044 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0265	7	13	0.5385	-27	c.-12 others(38): Show c.-1252_-1226delAAAAAAAAAAAAAAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding		1227		chr4	TogoVar
GALNT9_chr12_132191372_132334589	132244333	ACGGGGGA others(20): Show ACGGGGGATGTGGTGATGGGGCTGGACG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	182	0.0055	-27	c.107 others(46): Show c.1077+3550_1077+3576delCGTCCAGCCCCATCACCACATCCCCC G	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172405429	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG03579.hp1 HG02647.hp1 HG02723.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0011 a0001c0001t0003g0018 a0001c0001t0010g0021 a0001c0001t0001g0011 a0001c0001t0003g0018 a0001c0001t0010g0021	3	36	0.0833	-27	c.553 others(46): Show c.553+56742_553+56768delATATATATATATATTTTTTTTTTTTT T	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77252971	TCACCACC others(20): Show TCACCACCATCACCACCATCACCACCAC	T T	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19090.hp1 NA18980.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0132 a0001c0001t0011g0243 a0001c0001t0006g0132 a0001c0001t0011g0243	2	215	0.0093	-27	c.666 others(44): Show c.666+1766_666+1792delTCACCACCATCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259038	GATGGTCA others(20): Show GATGGTCATGGTGGTGATGATGGTGGTC	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0237 a0001c0001t0143g0237	1	364	0.0027	-27	c.732 others(44): Show c.732+2821_732+2847delCATGGTGGTGATGATGGTGGTCATGGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259157	GTGATGAT others(20): Show GTGATGATGGTGGTGATGATGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01361.hp1 HG02602.hp2 others(9): Show HG01069.hp2 HG01361.hp1 HG02602.hp2 HG02895.hp1 HG03491.hp2 HG03492.hp1 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA19068.hp1 NA19078.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0057 a0001c0001t0099 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0060 a0001c0002t0123 a0001c0002t0126	a0001c0001t0003g0258 a0001c0001t0005g0290 a0001c0001t0010g0259 others(8): Show a0001c0001t0003g0258 a0001c0001t0005g0290 a0001c0001t0010g0259 a0001c0001t0057g0295 a0001c0001t0099g0058 a0001c0002t0002g0020 a0001c0002t0004g0183 a0001c0002t0007g0147 a0001c0002t0060g0033 a0001c0002t0123g0200 a0001c0002t0126g0241	12	289	0.0415	-27	c.732 others(44): Show c.732+2940_732+2966delATGGTGGTGATGATGGTGGTGATGATG	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALT_chr9_34641675_34656035	34644302	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(143): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19075.hp1 NA19077.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023	146	322	0.4534	-27	c.-24 others(38): Show c.-2402_-2376delATATATATATATATATATATATATATA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2372		chr9	TogoVar
GALT_chr9_34641675_34656035	34645569	CCAAGGAA others(20): Show CCAAGGAAAATTTAGAAAAGGGAAGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	414	0.0024	-27	c.-11 others(38): Show c.-1135_-1109delCAAGGAAAATTTAGAAAAGGGAAGGGG	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		1105		chr9	TogoVar
GAMT_chr19_1392026_1406542	1394491	TCCTCCCT others(20): Show TCCTCCCTCCTTGGGGACCGTGCTCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	400	0.0025	-27	c.28 others(38): Show c.2841_*2867delGAGGAGCACGGTCCCCAAGGAGGGAGG	GAMT	ENSG00000130005.13	transcript	ENST00000252288.8	protein_coding		2534		chr19	TogoVar
GAPVD1_chr9_125256826_125372207	125263683	ACAGCACT others(20): Show ACAGCACTCCATCTGTAGGTATGTCTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(196): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0012 a0001c0014 a0001c0016 a0002c0006 a0003c0007 a0005c0017 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0002t0003 a0001c0002t0007 a0001c0002t0038 a0001c0005t0001 a0001c0009t0001 a0001c0012t0001 a0001c0014t0001 a0001c0016t0037 a0002c0006t0011 a0003c0007t0001 a0005c0017t0001 a0006c0011t0005	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(196): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0199 a0001c0001t0002g0218 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0005g0306 a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0337 a0001c0001t0005g0338 a0001c0001t0005g0339 a0001c0001t0010g0213 a0001c0001t0010g0253 a0001c0001t0010g0263 a0001c0001t0013g0190 a0001c0001t0013g0196 a0001c0001t0014g0260 a0001c0001t0019g0207 a0001c0001t0020g0333 a0001c0001t0021g0188 a0001c0001t0022g0280 a0001c0001t0023g0301 a0001c0001t0024g0193 a0001c0001t0025g0205 a0001c0001t0027g0221 a0001c0001t0030g0141 a0001c0001t0032g0294 a0001c0001t0034g0214 a0001c0001t0035g0304 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0147 a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0154 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0007g0001 a0001c0002t0007g0145 a0001c0002t0007g0148 a0001c0002t0007g0150 a0001c0002t0007g0151 a0001c0002t0007g0153 a0001c0002t0007g0161 a0001c0002t0007g0162 a0001c0002t0007g0168 a0001c0002t0007g0169 a0001c0002t0038g0001 a0001c0005t0001g0197 a0001c0005t0001g0216 a0001c0005t0001g0224 a0001c0009t0001g0189 a0001c0012t0001g0285 a0001c0014t0001g0231 a0001c0016t0037g0171 a0002c0006t0011g0142 a0002c0006t0011g0143 a0003c0007t0001g0300 a0003c0007t0001g0307 a0005c0017t0001g0249 a0006c0011t0005g0336	199	338	0.5888	-27	c.-19 others(46): Show c.-199+1756_-199+1782delACTCCATCTGTAGGTATGTCTGTCAG C	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300039	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	221	0.0045	-27	c.185 others(42): Show c.185+934_185+960delTATATATATATATATATATATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27			chr9	TogoVar
GAREM1_chr18_32258522_32475882	32364006	ATATATAT others(20): Show ATATATATATATATATATATATGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03453.hp1 NA18522.hp2 HG02965.hp1 HG03453.hp1 NA18522.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0017 a0003c0010 a0006c0022 a0001c0017 a0003c0010 a0006c0022	a0001c0017t0022 a0003c0010t0032 a0006c0022t0020 a0001c0017t0022 a0003c0010t0032 a0006c0022t0020	a0001c0017t0022g0002 a0003c0010t0032g0163 a0006c0022t0020g0031 a0001c0017t0022g0002 a0003c0010t0032g0163 a0006c0022t0020g0031	3	190	0.0158	-27	c.262 others(46): Show c.262+28862_262+28888delAAAAACATATATATATATATATATAT A	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GAREM1_chr18_32258522_32475882	32364008	ATATATAT others(20): Show ATATATATATATATATATATGTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp2 HG02976.hp2 HG02145.hp1 HG02280.hp2 HG02976.hp2	a0001 a0006 a0001 a0006	a0001c0018 a0006c0030 a0001c0018 a0006c0030	a0001c0018t0002 a0006c0030t0020 a0001c0018t0002 a0006c0030t0020	a0001c0018t0002g0003 a0001c0018t0002g0004 a0006c0030t0020g0162 a0001c0018t0002g0003 a0001c0018t0002g0004 a0006c0030t0020g0162	3	190	0.0158	-27	c.262 others(46): Show c.262+28860_262+28886delAAAAAAACATATATATATATATATAT A	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	3	0.3333	-27	c.-79 others(46): Show c.-795-8781_-795-8755delTTTTTTTTTTTTTTTTTTTTTTTTTT T	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GARRE1_chr19_34249554_34360566	34350111	TAAAGCAG others(20): Show TAAAGCAGGGTATGAGGGTAGTAAATGC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	324	0.0031	-27	c.282 others(44): Show c.2825+960_2825+986delAAGCAGGGTATGAGGGTAGTAAATGCA	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS7_chr17_9905606_10203606	9983102	ATATGTTG others(20): Show ATATGTTGATTTGTTTTCTAAGCATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(28): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00733.hp1 HG01074.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01433.hp2 HG01891.hp1 HG01934.hp2 HG02071.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02717.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03453.hp2 NA18906.hp2 NA18951.hp2 NA18961.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0027 a0001c0001t0038 a0001c0001t0042 a0001c0001t0048 a0001c0001t0056 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0039 a0001c0003t0001 a0001c0003t0004 a0001c0003t0024 a0001c0003t0030 a0001c0010t0028	a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0080 others(28): Show a0001c0001t0001g0033 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0002g0113 a0001c0001t0002g0212 a0001c0001t0003g0123 a0001c0001t0006g0036 a0001c0001t0008g0095 a0001c0001t0009g0056 a0001c0001t0009g0135 a0001c0001t0011g0012 a0001c0001t0027g0046 a0001c0001t0038g0024 a0001c0001t0042g0028 a0001c0001t0048g0059 a0001c0001t0056g0079 a0001c0001t0059g0151 a0001c0002t0001g0061 a0001c0002t0002g0076 a0001c0002t0039g0001 a0001c0003t0001g0210 a0001c0003t0004g0034 a0001c0003t0024g0075 a0001c0003t0030g0152 a0001c0003t0030g0156 a0001c0010t0028g0169	31	216	0.1435	-27	c.305 others(44): Show c.305-1245_305-1219delCATATGCTTAGAAAACAAATCAACATA	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GATA5_chr20_62458497_62480995	62462340	AGAGGCCT others(20): Show AGAGGCCTGGGAGGTCACTGCCACTGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG02258.hp1 others(17): Show HG01255.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0004c0010	a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 others(6): Show a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0030 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0018t0028 a0004c0010t0001	a0001c0001t0017g0040 a0001c0002t0001g0204 a0001c0002t0001g0210 others(12): Show a0001c0001t0017g0040 a0001c0002t0001g0204 a0001c0002t0001g0210 a0001c0002t0003g0015 a0001c0002t0003g0215 a0001c0002t0030g0285 a0001c0003t0001g0085 a0001c0003t0001g0182 a0001c0003t0003g0089 a0001c0003t0003g0193 a0001c0003t0004g0021 a0001c0018t0028g0187 a0004c0010t0001g0017 a0004c0010t0001g0018 a0004c0010t0001g0050	20	380	0.0526	-27	c.24 others(38): Show c.2469_*2495delACCAGTGGCAGTGACCTCCCAGGCCTC	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1156		chr20	TogoVar
GBF1_chr10_102240532_102387896	102288565	GCCGGGCG others(20): Show GCCGGGCGCGGTGGCGGGCGCCTGTAGT	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	328	0.0030	-27	c.163 others(46): Show c.163+28452_163+28478delGGGCGCGGTGGCGGGCGCCTGTAGTC C	GBF1	ENSG00000107862.7	transcript	ENST00000369983.5	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
GCA_chr2_162339132_162368123	162349061	ATTAAATT others(20): Show ATTAAATTATAATATATCATATAAATGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02647.hp2 others(3): Show HG02258.hp1 HG02559.hp1 HG02647.hp2 HG02818.hp1 HG02922.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0061 a0001c0001t0002g0076 a0001c0001t0002g0106 others(3): Show a0001c0001t0002g0061 a0001c0001t0002g0076 a0001c0001t0002g0106 a0001c0001t0008g0060 a0001c0001t0008g0077 a0001c0001t0013g0069	6	364	0.0165	-27	c.192 others(44): Show c.192+1320_192+1346delTTAAATTATAATATATCATATAAATGT	GCA	ENSG00000115271.11	transcript	ENST00000437150.7	protein_coding	2/7			chr2	TogoVar
GCH1_chr14_54837017_54907826	54880680	TATATATA others(20): Show TATATATATACTCATATATATATACTCC	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	319	0.0031	-27	c.344 others(46): Show c.344-15271_344-15245delGGAGTATATATATATGAGTATATATA T	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCH1_chr14_54837017_54907826	54880694	TATATATA others(20): Show TATATATATACTCCATATATATATACTC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	339	0.0029	-27	c.344 others(46): Show c.344-15285_344-15259delGAGTATATATATATGGAGTATATATA T	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GET1_chr21_39375326_39402889	39378596	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01256.hp2 HG01928.hp2 others(25): Show HG00408.hp2 HG01256.hp2 HG01928.hp2 HG01981.hp2 HG02015.hp1 HG02155.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG04115.hp1 NA18747.hp1 NA18943.hp2 NA18952.hp2 NA18962.hp2 NA18968.hp2 NA18969.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18993.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19084.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0062 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0080 a0001c0001t0002g0083	28	319	0.0878	-27	c.-17 others(38): Show c.-1788_-1762delTTCTTTCTTTCTTTCTTTCTTTCTTTC	GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding		1729		chr21	TogoVar
GFOD1_chr6_13352830_13492600	13447087	TATTAGTG others(20): Show TATTAGTGTCCTAGGACTGCTGTAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02723.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0021 a0001c0002t0008 others(1): Show a0001c0001t0006 a0001c0001t0021 a0001c0002t0008 a0001c0003t0055	a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0021g0163 others(2): Show a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0021g0163 a0001c0002t0008g0060 a0001c0003t0055g0161	5	228	0.0219	-27	c.253 others(46): Show c.253+39524_253+39550delTTCTTACAGCAGTCCTAGGACACTAA T	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar

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