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
GABRB2_chr5_161283436_161551725	161501754	GTTAAATA others(14): Show GTTAAATAACCTAAAATATAAA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	264	0.0038	-21	c.238 others(40): Show c.238-41931_238-41911delTTTATATTTTAGGTTATTTAA	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	3/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26635002	ATATATAT others(14): Show ATATATATAATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02717.hp2 HG02698.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0004 a0001c0001t0004g0005 a0001c0001t0002g0004 a0001c0001t0004g0005	2	202	0.0099	-21	c.241 others(40): Show c.241-13489_241-13469delAATATATATATATTATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GAGE12D_chrX_49536733_49554094	49545180	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0002 a0007c0010t0002	a0007c0010t0002g0049 a0007c0010t0002g0049	1	72	0.0139	-21	c.206 others(38): Show c.206-1195_206-1175delCATCTGGATTCACCAATTGTT	GAGE12D	ENSG00000227488.3	transcript	ENST00000405679.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12E_chrX_49546289_49563645	49554736	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03239.hp2 HG03669.hp1 others(6): Show HG01433.hp1 HG03239.hp2 HG03669.hp1 HG04115.hp1 NA18952.hp1 NA18959.hp1 NA18992.hp2 NA19006.hp1 NA19077.hp1	a0007 a0008 a0007 a0008	a0007c0007 a0008c0008 a0007c0007 a0008c0008	a0007c0007t0002 a0008c0008t0002 a0007c0007t0002 a0008c0008t0002	a0007c0007t0002g0009 a0007c0007t0002g0010 a0007c0007t0002g0074 others(5): Show a0007c0007t0002g0009 a0007c0007t0002g0010 a0007c0007t0002g0074 a0007c0007t0002g0076 a0008c0008t0002g0009 a0008c0008t0002g0031 a0008c0008t0002g0032 a0008c0008t0002g0073	9	100	0.0900	-21	c.206 others(38): Show c.206-1195_206-1175delCATCTGGATTCACCAATTGTT	GAGE12E	ENSG00000216649.5	transcript	ENST00000381698.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12F_chrX_49555842_49573205	49564295	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp1 HG01978.hp1 others(11): Show HG00438.hp1 HG01106.hp1 HG01978.hp1 HG02129.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 NA18612.hp1 NA18952.hp1 NA18995.hp1 NA19081.hp1 NA19088.hp1 NA20805.hp1 NA20905.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0002 a0004c0005t0002 a0005c0006t0002 a0001c0001t0002 a0004c0005t0002 a0005c0006t0002	a0001c0001t0002g0072 a0004c0005t0002g0008 a0004c0005t0002g0041 others(11): Show a0001c0001t0002g0072 a0004c0005t0002g0008 a0004c0005t0002g0041 a0004c0005t0002g0042 a0004c0005t0002g0044 a0004c0005t0002g0062 a0004c0005t0002g0068 a0004c0005t0002g0069 a0004c0005t0002g0070 a0005c0006t0002g0008 a0005c0006t0002g0033 a0005c0006t0002g0034 a0005c0006t0002g0035 a0005c0006t0002g0067	14	99	0.1414	-21	c.206 others(38): Show c.206-1195_206-1175delCATCTGGATTCACCAATTGTT	GAGE12F	ENSG00000236362.9	transcript	ENST00000440137.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12G_chrX_49565400_49582754	49573848	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp2 HG01516.hp1 others(4): Show HG00733.hp1 HG01361.hp2 HG01516.hp1 NA18945.hp1 NA18952.hp1 NA19074.hp1 NA19088.hp1	a0003 a0005 a0003 a0005	a0003c0004 a0005c0007 a0003c0004 a0005c0007	a0003c0004t0003 a0005c0007t0003 a0003c0004t0003 a0005c0007t0003	a0003c0004t0003g0003 a0003c0004t0003g0040 a0003c0004t0003g0042 others(2): Show a0003c0004t0003g0003 a0003c0004t0003g0040 a0003c0004t0003g0042 a0005c0007t0003g0039 a0005c0007t0003g0055	7	95	0.0737	-21	c.206 others(38): Show c.206-1195_206-1175delCATCTGGATTCACCAATTGTT	GAGE12G	ENSG00000215269.6	transcript	ENST00000445148.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49325501	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	193	0.0052	-21	c.206 others(38): Show c.206-1184_206-1164delCATCTGGATTCACCAATTGTT	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE13_chrX_49326582_49343949	49335047	CTGTTCAT others(14): Show CTGTTCATCTGGATTCACCAAT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18963.hp2 NA18940.hp1 NA18963.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0030 a0001c0004t0002g0031	2	92	0.0217	-21	c.206 others(38): Show c.206-1195_206-1175delCATCTGGATTCACCAATTGTT	GAGE13	ENSG00000274274.2	transcript	ENST00000612958.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAL3ST2_chr2_241771822_241809287	241805978	CAGCCCAA others(14): Show CAGCCCAAGGGACCTAGGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 NA18969.hp1 NA19068.hp1 others(1): Show HG01255.hp2 NA18969.hp1 NA19068.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0180 a0002c0002t0002g0015 a0002c0002t0002g0076 a0001c0001t0001g0180 a0002c0002t0002g0015 a0002c0002t0002g0076	4	312	0.0128	-21	c.18 others(32): Show c.1813_*1833delAGCCCAAGGGACCTAGGCAGG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1692		chr2	TogoVar
GALK2_chr15_49165247_49336882	49212314	AACGCCTG others(14): Show AACGCCTGGCCTTGTGATCTGC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02258.hp2 others(5): Show HG01255.hp1 HG02055.hp2 HG02258.hp2 HG02965.hp2 HG03471.hp1 HG03540.hp1 HG06807.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0010 a0002c0004t0010 a0001c0001t0010 a0002c0004t0010	a0001c0001t0010g0037 a0001c0001t0010g0039 a0001c0001t0010g0202 others(5): Show a0001c0001t0010g0037 a0001c0001t0010g0039 a0001c0001t0010g0202 a0001c0001t0010g0203 a0001c0001t0010g0204 a0001c0001t0010g0205 a0001c0001t0010g0206 a0002c0004t0010g0038	8	346	0.0231	-21	c.143 others(38): Show c.143-4875_143-4855delACGCCTGGCCTTGTGATCTGC	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	2/9			chr15	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0129 a0001c0002t0018g0129	1	2	0.5000	-21	c.505 others(38): Show c.505-4821_505-4801delTTTTTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299714	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01168.hp2 HG01169.hp2 others(6): Show HG00280.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG02698.hp2 HG02735.hp2 HG03486.hp1 HG03688.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0009 a0001c0005t0048 a0001c0001t0002 a0001c0001t0009 a0001c0005t0048	a0001c0001t0002g0002 a0001c0001t0002g0104 a0001c0001t0002g0108 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0009g0139 a0001c0001t0009g0214 a0001c0001t0009g0216 a0001c0001t0009g0240 a0001c0005t0048g0075	9	346	0.0260	-21	c.967 others(38): Show c.967+7201_967+7221delTCTTTCTTTCTTTCTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38675524	TTGTTTTT others(14): Show TTGTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	291	0.0034	-21	c.191 others(36): Show c.191-384_191-364delTTTTTTTTTTTTTTTTTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675540	TTTTTGTG others(14): Show TTTTTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG03491.hp1 others(4): Show HG02055.hp1 HG02976.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp2 NA18968.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0012 a0002c0002t0021	a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0006g0232 others(4): Show a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0006g0232 a0002c0002t0006g0272 a0002c0002t0012g0233 a0002c0002t0012g0234 a0002c0002t0021g0185	7	323	0.0217	-21	c.191 others(36): Show c.191-370_191-350delTTTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675542	TTTGTGTG others(14): Show TTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp1 HG02723.hp1 others(2): Show HG01884.hp2 HG02145.hp1 HG02723.hp1 HG02818.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0018 a0002c0002t0029 a0002c0002t0009 a0002c0002t0018 a0002c0002t0029	a0002c0002t0009g0001 a0002c0002t0009g0238 a0002c0002t0018g0237 others(1): Show a0002c0002t0009g0001 a0002c0002t0009g0238 a0002c0002t0018g0237 a0002c0002t0029g0001	5	310	0.0161	-21	c.191 others(36): Show c.191-368_191-348delTGTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88833331	AGGGACAA others(14): Show AGGGACAATGGACACTGAGCTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 NA18522.hp2 HG01167.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0287 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0287	3	401	0.0075	-21	c.899 others(38): Show c.899-1251_899-1231delCAGCTCAGTGTCCATTGTCCC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	9	0.1111	-21	c.123 others(38): Show c.1233+336_1233+356delTTTTTTTTTTTTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154248563	AAGTGTTT others(14): Show AAGTGTTTTATTTGGCATACAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG03195.hp2 others(2): Show HG02622.hp1 HG02630.hp2 HG03195.hp2 NA18959.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0035 a0001c0001t0056 others(1): Show a0001c0001t0022 a0001c0001t0035 a0001c0001t0056 a0001c0001t0066	a0001c0001t0022g0184 a0001c0001t0022g0185 a0001c0001t0035g0094 others(2): Show a0001c0001t0022g0184 a0001c0001t0022g0185 a0001c0001t0035g0094 a0001c0001t0056g0150 a0001c0001t0066g0005	5	212	0.0236	-21	c.857 others(38): Show c.857+2591_857+2611delTTTGGCATACATAGTGTTTTA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT17_chr7_71127144_71718599	71397941	TTTGTTGT others(14): Show TTTGTTGTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	14	0.0714	-21	c.589 others(38): Show c.589+9558_589+9578delGTTGTTGTTGTTGTTGTTGTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230083093	GGGATGAT others(14): Show GGGATGATGGAGCAGGGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0294 a0001c0002t0018g0294	1	322	0.0031	-21	c.126 others(40): Show c.126+15708_126+15728delAGGATGATGGAGCAGGGAGCC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230083240	GGGATGAT others(14): Show GGGATGATGGAGCAGGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp1 HG02615.hp2 others(4): Show HG01261.hp1 HG02109.hp1 HG02615.hp2 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0008 a0001c0001t0023 a0001c0001t0050 others(3): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0050 a0001c0006t0016 a0001c0008t0012 a0001c0010t0011	a0001c0001t0008g0300 a0001c0001t0023g0283 a0001c0001t0050g0168 others(4): Show a0001c0001t0008g0300 a0001c0001t0023g0283 a0001c0001t0050g0168 a0001c0006t0016g0002 a0001c0006t0016g0003 a0001c0008t0012g0310 a0001c0010t0011g0306	7	322	0.0217	-21	c.126 others(40): Show c.126+15846_126+15866delCAGGCAGCCAGGATGATGGAG	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230159329	TCTTAAAG others(14): Show TCTTAAAGTGTTCAGCACTCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00639.hp2 others(69): Show HG00323.hp1 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG04115.hp2 HG04199.hp2 NA18939.hp2 NA18941.hp2 NA18948.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18993.hp1 NA19007.hp1 NA19010.hp2 NA19079.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0016 a0002c0004 a0002c0005 a0002c0007 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024 a0001c0001t0037 a0001c0001t0045 a0001c0001t0057 a0001c0001t0058 a0001c0002t0001 a0001c0002t0009 a0001c0002t0014 a0001c0002t0039 a0001c0003t0001 a0001c0003t0006 a0001c0009t0029 a0001c0016t0007 a0002c0004t0002 a0002c0005t0002 a0002c0005t0017 a0002c0007t0042 a0004c0014t0001	a0001c0001t0001g0025 a0001c0001t0001g0133 a0001c0001t0001g0146 others(69): Show a0001c0001t0001g0025 a0001c0001t0001g0133 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0004g0035 a0001c0001t0004g0043 a0001c0001t0004g0157 a0001c0001t0004g0163 a0001c0001t0005g0032 a0001c0001t0005g0055 a0001c0001t0005g0150 a0001c0001t0005g0236 a0001c0001t0006g0072 a0001c0001t0007g0061 a0001c0001t0007g0068 a0001c0001t0007g0106 a0001c0001t0007g0188 a0001c0001t0008g0259 a0001c0001t0008g0260 a0001c0001t0009g0064 a0001c0001t0009g0095 a0001c0001t0009g0102 a0001c0001t0009g0104 a0001c0001t0009g0105 a0001c0001t0009g0244 a0001c0001t0010g0038 a0001c0001t0010g0101 a0001c0001t0010g0123 a0001c0001t0010g0147 a0001c0001t0010g0218 a0001c0001t0010g0219 a0001c0001t0014g0249 a0001c0001t0024g0111 a0001c0001t0024g0225 a0001c0001t0037g0194 a0001c0001t0045g0171 a0001c0001t0057g0138 a0001c0001t0058g0158 a0001c0002t0001g0011 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0166 a0001c0002t0009g0022 a0001c0002t0014g0029 a0001c0002t0039g0323 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0006g0093 a0001c0003t0006g0234 a0001c0009t0029g0280 a0001c0016t0007g0099 a0002c0004t0002g0045 a0002c0004t0002g0067 a0002c0004t0002g0083 a0002c0004t0002g0090 a0002c0004t0002g0130 a0002c0004t0002g0223 a0002c0004t0002g0229 a0002c0004t0002g0233 a0002c0004t0002g0247 a0002c0004t0002g0248 a0002c0005t0002g0094 a0002c0005t0017g0091 a0002c0005t0017g0092 a0002c0007t0042g0241 a0004c0014t0001g0137	72	322	0.2236	-21	c.127 others(40): Show c.127-18886_127-18866delTAAAGTGTTCAGCACTCCCCT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT3_chr2_165742588_165799247	165745418	TATACACA others(14): Show TATACACACTACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	384	0.0026	-21	c.33 others(32): Show c.3342_*3362delGTGTGTGTGTGTAGTGTGTAT	GALNT3	ENSG00000115339.14	transcript	ENST00000392701.8	protein_coding		2169		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157256558	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02895.hp1 HG02572.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0076 a0001c0002t0077 a0001c0002t0076 a0001c0002t0077	a0001c0002t0076g0240 a0001c0002t0077g0238 a0001c0002t0076g0240 a0001c0002t0077g0238	2	280	0.0071	-21	c.-15 others(32): Show c.-1524_-1504delAAAAAAAAAAAATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1146		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157256570	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02109.hp2 NA19043.hp2 HG01261.hp2 HG02109.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0023 a0002c0003t0008 a0002c0003t0023	a0002c0003t0008g0190 a0002c0003t0008g0194 a0002c0003t0023g0206 a0002c0003t0008g0190 a0002c0003t0008g0194 a0002c0003t0023g0206	3	229	0.0131	-21	c.-15 others(32): Show c.-1512_-1492delTATATATATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1134		chr2	TogoVar
GALNT6_chr12_51346252_51396406	51371054	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01169.hp1 others(6): Show HG01109.hp2 HG01167.hp2 HG01169.hp1 HG02717.hp1 HG03041.hp2 HG03139.hp2 HG03486.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0031 others(4): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0031 a0001c0001t0033 a0001c0001t0060 a0001c0001t0065 a0001c0001t0090	a0001c0001t0004g0034 a0001c0001t0015g0228 a0001c0001t0015g0229 others(6): Show a0001c0001t0004g0034 a0001c0001t0015g0228 a0001c0001t0015g0229 a0001c0001t0031g0352 a0001c0001t0033g0205 a0001c0001t0033g0318 a0001c0001t0060g0037 a0001c0001t0065g0031 a0001c0001t0090g0299	9	44	0.2045	-21	c.665 others(38): Show c.665-5496_665-5476delAATAATAATAATAATAATAAT	GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	4/11			chr12	TogoVar
GALNT7_chr4_173163811_173328967	173167583	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03130.hp1 NA18906.hp1 HG03017.hp2 HG03130.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0001 a0002c0007t0007 a0001c0002t0001 a0002c0007t0007	a0001c0002t0001g0215 a0002c0007t0007g0177 a0002c0007t0007g0178 a0001c0002t0001g0215 a0002c0007t0007g0177 a0002c0007t0007g0178	3	9	0.3333	-21	c.-12 others(32): Show c.-1252_-1232delAAAAAAAAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding		1227		chr4	TogoVar
GALNTL5_chr7_151951446_152024929	151995347	AATTTTTT others(14): Show AATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02717.hp2 others(4): Show HG01109.hp1 HG01243.hp1 HG02717.hp2 HG02970.hp1 HG03139.hp1 HG03579.hp1 HG03688.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0002 a0002c0002t0001 a0004c0004t0002	a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 others(4): Show a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0191 a0002c0002t0001g0266 a0004c0004t0002g0137	7	256	0.0273	-21	c.659 others(38): Show c.659-7366_659-7346delATTTTTTTTTTTTTTTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8			chr7	TogoVar
GALNTL6_chr4_171808404_173046559	172206784	TTTGTTTT others(14): Show TTTGTTTTGTTTTGTTTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	40	0.0250	-21	c.139 others(40): Show c.139-22869_139-22849delGTTTTGTTTTGTTTTTCTGTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405431	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	39	0.0256	-21	c.553 others(40): Show c.553+56744_553+56764delATATATATATATTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172759799	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA20752.hp2 HG03516.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0002g0008 a0001c0001t0001g0028 a0001c0001t0002g0008	2	11	0.1818	-21	c.554 others(40): Show c.554-49534_554-49514delTTTTTTTTTTTTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77247152	TGCCACGT others(14): Show TGCCACGTGTTTAAAAGGTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0234 a0001c0001t0019g0234	1	364	0.0027	-21	c.-33 others(32): Show c.-3396_-3376delGCCACGTGTTTAAAAGGTTTC	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		2695		chr18	TogoVar
GALR1_chr18_77244848_77282900	77264133	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0068 a0001c0001t0111g0068	1	47	0.0213	-21	c.733 others(38): Show c.733-4441_733-4421delAAAAAAAAAAAAAAAAAAAAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77281879	AAAAACAA others(14): Show AAAAACAAGATAGATTGTTGAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03490.hp1 HG03831.hp2 others(1): Show HG02738.hp1 HG03490.hp1 HG03831.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0043 a0001c0001t0106 a0001c0002t0137 a0001c0001t0043 a0001c0001t0106 a0001c0002t0137	a0001c0001t0043g0056 a0001c0001t0043g0069 a0001c0001t0106g0055 others(1): Show a0001c0001t0043g0056 a0001c0001t0043g0069 a0001c0001t0106g0055 a0001c0002t0137g0203	4	364	0.0110	-21	c.12 others(34): Show c.12978_*12998delAAAACAAGATAGATTGTTGAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3980		chr18	TogoVar
GALR2_chr17_76069781_76082537	76072432	ACCGCCGC others(14): Show ACCGCCGCCGCCACTGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	398	0.0025	-21	c.-24 others(32): Show c.-2451_-2431delCCGCCGCCGCCACTGCCGCCG	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		2348		chr17	TogoVar
GALT_chr9_34641675_34656035	34644302	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	177	0.0056	-21	c.-24 others(32): Show c.-2402_-2382delATATATATATATATATATATA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2372		chr9	TogoVar
GAP43_chr3_115618510_115726483	115650731	TTTTTAAA others(14): Show TTTTTAAAATCATACTCTAGTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0219 a0001c0001t0013g0219	1	350	0.0029	-21	c.31- others(38): Show c.31-25256_31-25236delAAAATCATACTCTAGTCTTTT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125300039	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	221	0.0045	-21	c.185 others(36): Show c.185+934_185+954delTATATATATATATATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27			chr9	TogoVar
GAREM2_chr2_26168088_26194663	26172991	GGGGGTCC others(14): Show GGGGGTCCGGGAGGAGGGGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0060 a0002c0003t0001g0060	1	302	0.0033	-21	c.-22 others(30): Show c.-229_-209delGGGGTCCGGGAGGAGGGGGCC	GAREM2	ENSG00000157833.13	transcript	ENST00000401533.7	protein_coding		96		chr2	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	3	0.3333	-21	c.-79 others(40): Show c.-795-8775_-795-8755delTTTTTTTTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2_chr11_22661611_22818001	22686553	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG02738.hp1 others(6): Show HG01433.hp1 HG02258.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG03209.hp1 HG03209.hp2 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0002t0001g0013 a0001c0002t0001g0142 a0001c0002t0001g0146 others(6): Show a0001c0002t0001g0013 a0001c0002t0001g0142 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0226 a0001c0002t0001g0245 a0001c0002t0001g0254 a0001c0002t0002g0092 a0001c0002t0004g0266	9	14	0.6429	-21	c.267 others(36): Show c.267+792_267+812delAAAAAAAAAAAAAAAAAAAAA	GAS2	ENSG00000148935.12	transcript	ENST00000454584.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
GAS6_chr13_113815549_113869076	113841767	CCAGTTTC others(14): Show CCAGTTTCCTCCATACGCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19074.hp1 HG03492.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0109 a0001c0001t0001g0110	2	141	0.0142	-21	c.344 others(38): Show c.344-1938_344-1918delTGGGGCGTATGGAGGAAACTG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113841817	CTCCATAC others(14): Show CTCCATACGCCCCACAGTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03579.hp2 HG01496.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0009 a0001c0002 a0003c0009	a0001c0002t0001 a0003c0009t0001 a0001c0002t0001 a0003c0009t0001	a0001c0002t0001g0140 a0003c0009t0001g0124 a0001c0002t0001g0140 a0003c0009t0001g0124	2	94	0.0213	-21	c.344 others(38): Show c.344-1988_344-1968delAGAAACTGTGGGGCGTATGGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GAS7_chr17_9905606_10203606	10016751	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02027.hp1 others(18): Show HG01243.hp1 HG01884.hp2 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03486.hp1 HG03540.hp1 HG03834.hp2 NA18522.hp1 NA18955.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0011 a0001c0001 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0033 a0001c0001t0043 a0001c0001t0065 a0001c0003t0024 a0002c0011t0041	a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0001g0192 others(18): Show a0001c0001t0001g0104 a0001c0001t0001g0139 a0001c0001t0001g0192 a0001c0001t0002g0065 a0001c0001t0002g0098 a0001c0001t0003g0073 a0001c0001t0004g0043 a0001c0001t0005g0173 a0001c0001t0006g0070 a0001c0001t0011g0013 a0001c0001t0012g0005 a0001c0001t0015g0039 a0001c0001t0016g0159 a0001c0001t0017g0004 a0001c0001t0017g0006 a0001c0001t0033g0023 a0001c0001t0043g0160 a0001c0001t0065g0142 a0001c0003t0024g0050 a0001c0003t0024g0075 a0002c0011t0041g0026	21	57	0.3684	-21	c.304 others(38): Show c.304+3005_304+3025delATTATTATTATTATTATTATT	GAS7	ENSG00000007237.19	transcript	ENST00000432992.7	protein_coding	2/13			chr17	TogoVar
GAS8_chr16_90017680_90049960	90047897	GCCGCGGT others(14): Show GCCGCGGTGAGAGGGGGCGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG01099.hp1 HG01106.hp1 others(57): Show HG00140.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01361.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02071.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0015	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0024 a0008c0025 a0011c0018 a0015c0019	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(16): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0012 a0001c0002t0022 a0001c0002t0026 a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0001c0003t0018 a0001c0003t0028 a0001c0003t0035 a0001c0003t0042 a0001c0004t0001 a0001c0010t0029 a0001c0024t0038 a0008c0025t0003 a0011c0018t0003 a0015c0019t0003	a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0185 others(55): Show a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0185 a0001c0002t0003g0078 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0165 a0001c0002t0003g0167 a0001c0002t0003g0203 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0316 a0001c0002t0003g0337 a0001c0002t0006g0024 a0001c0002t0006g0025 a0001c0002t0006g0318 a0001c0002t0006g0320 a0001c0002t0006g0321 a0001c0002t0006g0322 a0001c0002t0006g0323 a0001c0002t0006g0324 a0001c0002t0006g0326 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0006g0329 a0001c0002t0006g0330 a0001c0002t0012g0221 a0001c0002t0012g0223 a0001c0002t0022g0325 a0001c0002t0026g0309 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0003g0104 a0001c0003t0003g0134 a0001c0003t0009g0126 a0001c0003t0009g0127 a0001c0003t0009g0128 a0001c0003t0009g0129 a0001c0003t0018g0026 a0001c0003t0018g0027 a0001c0003t0028g0315 a0001c0003t0035g0082 a0001c0003t0042g0070 a0001c0004t0001g0108 a0001c0010t0029g0348 a0001c0024t0038g0317 a0008c0025t0003g0346 a0011c0018t0003g0086 a0015c0019t0003g0117	60	243	0.2469	-21	c.45 others(32): Show c.4553_*4573delCCGCGGTGAGAGGGGGCGGGA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding		2938		chr16	TogoVar
GATA4_chr8_11699202_11765002	11739748	CGGAGCTT others(14): Show CGGAGCTTCTGTCGTGTGCGGA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(25): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG01099.hp1 HG01109.hp2 HG01192.hp1 HG02135.hp2 HG02523.hp2 HG02622.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03225.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18957.hp2 NA18961.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18982.hp1 NA18992.hp2 NA19000.hp1 NA19002.hp1 NA19007.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0012 a0001c0001 a0001c0009 a0001c0012	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0009t0004 a0001c0009t0007 a0001c0012t0004	a0001c0001t0003g0164 a0001c0001t0004g0001 a0001c0001t0004g0057 others(23): Show a0001c0001t0003g0164 a0001c0001t0004g0001 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0006g0063 a0001c0001t0007g0067 a0001c0001t0007g0071 a0001c0001t0007g0075 a0001c0001t0010g0060 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0065 a0001c0009t0004g0056 a0001c0009t0007g0064 a0001c0012t0004g0055	28	338	0.0828	-21	c.617 others(38): Show c.617-9163_617-9143delCTTCTGTCGTGTGCGGAGGAG	GATA4	ENSG00000136574.19	transcript	ENST00000532059.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
GBE1_chr3_81484703_81766645	81666582	AAAATCTA others(14): Show AAAATCTATTCCAGAGAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19080.hp2 NA19002.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0065 a0002c0002t0001g0066	2	302	0.0066	-21	c.429 others(38): Show c.429+4235_429+4255delATTTTTCTCTGGAATAGATTT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	3/15			chr3	TogoVar
GBP2_chr1_89101132_89131114	89101183	TAAACTTG others(14): Show TAAACTTGTAGCACTACTAATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	-21	c.69 others(32): Show c.6971_*6991delGATTAGTAGTGCTACAAGTTT	GBP2	ENSG00000162645.13	transcript	ENST00000370466.4	protein_coding		4948		chr1	TogoVar
GCC2_chr2_108444206_108514415	108502618	TACATTCT others(14): Show TACATTCTCTCTTAAAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp2 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0045 a0001c0019t0010 a0001c0001t0045 a0001c0019t0010	a0001c0001t0045g0152 a0001c0019t0010g0153 a0001c0001t0045g0152 a0001c0019t0010g0153	2	274	0.0073	-21	c.498 others(40): Show c.4984+2865_4984+2885delACATTCTCTCTTAAAGAGAGA	GCC2	ENSG00000135968.22	transcript	ENST00000309863.11	protein_coding	22/22			chr2	TogoVar
GCK_chr7_44139275_44194439	44174848	CTCTTCCT others(14): Show CTCTTCCTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	378	0.0026	-21	c.45+ others(38): Show c.45+14040_45+14060delAGAAGAAGAAGAAGAGGAAGA	GCK	ENSG00000106633.18	transcript	ENST00000403799.8	protein_coding	1/9			chr7	TogoVar

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