Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT13_chr2_153866922_154458979	153884785	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	214	0.0047	22	c.-17 others(43): Show c.-177+12483_-177+12484insATATATATATATATATATATGT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269904	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18998.hp1 NA18959.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0026g0184 a0001c0001t0026g0185	2	214	0.0094	22	c.975 others(41): Show c.975+10767_975+10768insATATATATATATATATATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298517	A A	ATTATATA others(15): Show ATTATATATAAAATTGTATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG03490.hp2 HG01256.hp2 HG01258.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0032g0077 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0032g0077	3	214	0.0140	22	c.976 others(39): Show c.976-2880_976-2859dupATTGTATATATTTATATATAAA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30977092	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02970.hp2 others(1): Show HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0013 a0001c0001 a0001c0014 a0002c0013	a0001c0001t0001 a0001c0014t0003 a0002c0013t0001 a0001c0001t0001 a0001c0014t0003 a0002c0013t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0014t0003g0178 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0014t0003g0178 a0002c0013t0001g0089	4	226	0.0177	22	c.300 others(41): Show c.300-10791_300-10790insAAAAAAAAAAAAAAAAAAAAAA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989560	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	226	0.0044	22	c.299 others(39): Show c.299+3256_299+3277dupTATATATATATATATATATATA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027886	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02717.hp1 HG02895.hp2 others(4): Show HG02698.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG03516.hp1 NA18612.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0077 a0001c0001t0001g0080 others(4): Show a0001c0001t0001g0018 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0002g0212 a0001c0006t0001g0145	7	226	0.0310	22	c.130 others(41): Show c.130-34901_130-34880dupCACACACACACACACACACACA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027918	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGCA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	226	0.0044	22	c.130 others(41): Show c.130-34912_130-34911insTGCACACACACACACACACACA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31038065	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	226	0.0044	22	c.130 others(41): Show c.130-45059_130-45058insATATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16215916	A A	AACAAAAA others(15): Show AACAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18942.hp1 NA18988.hp1 others(1): Show NA18612.hp1 NA18942.hp1 NA18988.hp1 NA18993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0140 others(1): Show a0002c0003t0001g0136 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0342	4	388	0.0103	22	c.139 others(41): Show c.1392+3154_1392+3155insCAAAAAAAAAAAAAAAAAAACA	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GALNT15_chr3_16169680_16235165	16232465	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0036 a0002c0003t0004g0036	1	388	0.0026	22	c.49 others(33): Show c.4965_*4966insATATATATATATATATATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2301		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16232469	A A	AATAAATA others(15): Show AATAAATAAATAAATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0014 a0001c0016t0014	a0001c0016t0014g0015 a0001c0016t0014g0015	1	388	0.0026	22	c.49 others(33): Show c.4969_*4970insATAAATAAATAAATAAATATAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2305		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16233092	A A	AACTTTTT others(15): Show AACTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0313 a0002c0003t0006g0313	1	388	0.0026	22	c.55 others(33): Show c.5592_*5593insACTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2928		chr3	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG00738.hp2 others(54): Show HG00140.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp2 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG03225.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18950.hp1 NA18969.hp2 NA18971.hp2 NA18978.hp2 NA18988.hp2 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19055.hp2 NA19077.hp1 NA19087.hp2 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0008 a0009	a0001c0001 a0001c0002 a0001c0043 others(13): Show a0001c0001 a0001c0002 a0001c0043 a0002c0003 a0002c0034 a0002c0040 a0003c0004 a0003c0005 a0003c0008 a0003c0009 a0003c0011 a0005c0018 a0006c0020 a0008c0023 a0009c0025 a0009c0026	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0001c0001t0030 a0001c0001t0041 a0001c0001t0044 a0001c0002t0013 a0001c0043t0046 a0002c0003t0001 a0002c0003t0004 a0002c0034t0017 a0002c0040t0017 a0003c0004t0006 a0003c0005t0003 a0003c0008t0010 a0003c0008t0042 a0003c0009t0001 a0003c0009t0002 a0003c0009t0006 a0003c0011t0006 a0005c0018t0002 a0006c0020t0006 a0008c0023t0001 a0009c0025t0040 a0009c0026t0002	a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0075 others(50): Show a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0075 a0001c0001t0002g0163 a0001c0001t0002g0238 a0001c0001t0002g0270 a0001c0001t0002g0282 a0001c0001t0002g0297 a0001c0001t0002g0306 a0001c0001t0002g0326 a0001c0001t0004g0256 a0001c0001t0004g0269 a0001c0001t0004g0283 a0001c0001t0004g0286 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0311 a0001c0001t0004g0317 a0001c0001t0004g0350 a0001c0001t0012g0232 a0001c0001t0012g0233 a0001c0001t0012g0234 a0001c0001t0016g0264 a0001c0001t0030g0221 a0001c0001t0041g0110 a0001c0001t0044g0174 a0001c0002t0013g0016 a0001c0002t0013g0359 a0001c0043t0046g0251 a0002c0003t0001g0332 a0002c0003t0004g0096 a0002c0003t0004g0137 a0002c0003t0004g0161 a0002c0034t0017g0218 a0002c0040t0017g0215 a0003c0004t0006g0008 a0003c0004t0006g0168 a0003c0004t0006g0339 a0003c0005t0003g0002 a0003c0005t0003g0027 a0003c0005t0003g0028 a0003c0008t0010g0030 a0003c0008t0042g0031 a0003c0009t0001g0049 a0003c0009t0002g0041 a0003c0009t0006g0046 a0003c0009t0006g0047 a0003c0011t0006g0042 a0005c0018t0002g0351 a0006c0020t0006g0052 a0008c0023t0001g0353 a0009c0025t0040g0315 a0009c0026t0002g0138	57	388	0.1469	22	c.55 others(33): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69264819	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0024 a0003c0004t0011g0024	1	306	0.0033	22	c.177 others(39): Show c.177+4363_177+4364insTTTTTTTTTTTTTTTTTTTTTT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69345703	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00738.hp1 others(16): Show HG00140.hp2 HG00408.hp1 HG00738.hp1 HG01071.hp1 HG02258.hp1 HG02523.hp2 HG02572.hp1 HG02809.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp2 NA18522.hp1 NA18969.hp1 NA18981.hp2 NA19002.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0217 others(16): Show a0001c0001t0001g0072 a0001c0001t0001g0126 a0001c0001t0001g0217 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0242 a0001c0001t0002g0286 a0001c0001t0004g0274 a0001c0001t0007g0276 a0001c0001t0010g0023 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0003t0001g0219 a0002c0002t0001g0062 a0002c0002t0001g0259 a0002c0002t0001g0265 a0002c0002t0002g0106 a0002c0002t0003g0215	19	306	0.0621	22	c.127 others(41): Show c.1272-1324_1272-1303dupGTGTGTGTGTGTGTGTGTGTGT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69356554	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02818.hp2 HG03516.hp1 others(5): Show HG01433.hp2 HG02818.hp2 HG03516.hp1 HG03669.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0008c0019	a0001c0001t0002 a0001c0001t0028 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0001t0028 a0001c0003t0002 a0002c0002t0002 a0003c0004t0002 a0008c0019t0002	a0001c0001t0002g0076 a0001c0001t0002g0278 a0001c0001t0028g0111 others(5): Show a0001c0001t0002g0076 a0001c0001t0002g0278 a0001c0001t0028g0111 a0001c0003t0002g0071 a0001c0003t0002g0253 a0002c0002t0002g0149 a0003c0004t0002g0204 a0008c0019t0002g0295	8	306	0.0261	22	c.43 others(33): Show c.4386_*4387insTTTTTTTTTTTTTTTTTTTTTT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding		2089		chr14	TogoVar
GALNT17_chr7_71127144_71718599	71161978	G G	GCCCTTCC others(15): Show GCCCTTCCTCTTCTTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02622.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0015 a0001c0001t0018g0016 a0001c0001t0002g0015 a0001c0001t0018g0016	2	76	0.0263	22	c.238 others(41): Show c.238+28945_238+28966dupCTCTTCTTTCCTTCTTCCCTTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	76	0.0132	22	c.238 others(41): Show c.238+68200_238+68201insATATATATATATATATATATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201244	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG02896.hp1 others(1): Show HG01243.hp2 HG02717.hp2 HG02896.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0002t0019	a0001c0001t0002g0021 a0001c0001t0005g0050 a0001c0002t0002g0020 others(1): Show a0001c0001t0002g0021 a0001c0001t0005g0050 a0001c0002t0002g0020 a0001c0002t0019g0017	4	76	0.0526	22	c.238 others(41): Show c.238+68217_238+68218insTATATATACATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71231723	G G	GGAGGGAG others(15): Show GGAGGGAGAGAGAGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	22	c.238 others(41): Show c.238+98699_238+98720dupGGAGGGAGAGGGAGAGAGAGAG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71245848	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	76	0.0132	22	c.239 others(41): Show c.239-89688_239-89687insGTTTTTTTTTTTTTTTTTTTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71377114	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	76	0.0132	22	c.423 others(41): Show c.423-11120_423-11119insAATATATATATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71482081	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp2 others(1): Show HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011	a0001c0001t0003g0011 a0001c0001t0006g0064 a0001c0001t0006g0066 others(1): Show a0001c0001t0003g0011 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0011g0040	4	76	0.0526	22	c.962 others(41): Show c.962+60988_962+61009dupGTGTGTGTGTGTGTGTGTGTGT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11284908	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	260	0.0039	22	c.167 others(41): Show c.1677+8099_1677+8120dupAAAAAAAAAAAAAAAAAAAAAA	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	10/10			chr11	TogoVar
GALNT18_chr11_11265877_11627005	11358826	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	260	0.0039	22	c.109 others(43): Show c.1092+13667_1092+13688dupGTGTGTGTGTGTGTGTGTGTGT	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	6/10			chr11	TogoVar
GALNT18_chr11_11265877_11627005	11421742	T T	TCTCTGCA others(15): Show TCTCTGCAGAGTCTCTGCAGAGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20300.hp2 HG02451.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0236 a0001c0001t0001g0167 a0001c0001t0001g0236	2	260	0.0077	22	c.595 others(41): Show c.595+10878_595+10879insTCTCTGCAGAGACTCTGCAGAG	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	3/10			chr11	TogoVar
GALNT18_chr11_11265877_11627005	11497327	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0001 a0003c0017t0001	a0003c0017t0001g0235 a0003c0017t0001g0235	1	260	0.0039	22	c.236 others(41): Show c.236-48413_236-48392dupGTGTGTGTGTGTGTGTGTGTGT	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	1/10			chr11	TogoVar
GALNT1_chr18_35576740_35716834	35608454	G G	GCCTTGGT others(15): Show GCCTTGGTGTGAAAAAGAGTGTA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0247 a0001c0001t0003g0247	1	310	0.0032	22	c.-10 others(43): Show c.-104+26606_-104+26607insAGAGTGTACCTTGGTGTGAAAA	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230107610	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG06807.hp2 HG03490.hp2 HG03492.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0053 a0001c0003t0001 a0001c0001t0053 a0001c0003t0001	a0001c0001t0053g0301 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0001t0053g0301 a0001c0003t0001g0186 a0001c0003t0001g0187	3	324	0.0093	22	c.126 others(41): Show c.126+40217_126+40238dupTGTGTGTGTGTGTGTGTGTGTG	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230222031	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG01069.hp1 others(15): Show HG00323.hp2 HG00423.hp1 HG01069.hp1 HG02717.hp1 HG02735.hp1 HG03098.hp2 HG03710.hp1 NA18747.hp1 NA18946.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp1 NA19066.hp1 NA19077.hp2 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0007	a0001c0001t0008 a0001c0001t0015 a0001c0003t0001 others(5): Show a0001c0001t0008 a0001c0001t0015 a0001c0003t0001 a0001c0003t0005 a0001c0003t0006 a0001c0008t0012 a0002c0007t0002 a0002c0007t0042	a0001c0001t0008g0298 a0001c0001t0015g0014 a0001c0003t0001g0037 others(15): Show a0001c0001t0008g0298 a0001c0001t0015g0014 a0001c0003t0001g0037 a0001c0003t0001g0079 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0209 a0001c0003t0005g0125 a0001c0003t0005g0128 a0001c0003t0006g0049 a0001c0003t0006g0089 a0001c0003t0006g0251 a0001c0008t0012g0303 a0002c0007t0002g0075 a0002c0007t0002g0077 a0002c0007t0002g0152 a0002c0007t0002g0226 a0002c0007t0042g0239	18	324	0.0556	22	c.375 others(41): Show c.375-13970_375-13969insTTTTTTTTTTTTTTTTTTTTTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0227 a0003c0004t0002g0227	1	282	0.0036	22	c.-15 others(33): Show c.-1514_-1513insAAAAAAAAAAAAATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0065 a0002c0003t0065	a0002c0003t0065g0186 a0002c0003t0065g0186	1	282	0.0036	22	c.-15 others(33): Show c.-1514_-1513insAAAAAAAAATATATATATATAT	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding		1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(15): Show TATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02895.hp1 NA19030.hp1 HG02572.hp1 HG02895.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0091 a0001c0002t0092 a0001c0002t0096 a0001c0002t0091 a0001c0002t0092 a0001c0002t0096	a0001c0002t0091g0240 a0001c0002t0092g0245 a0001c0002t0096g0239 a0001c0002t0091g0240 a0001c0002t0092g0245 a0001c0002t0096g0239	3	282	0.0106	22	c.174 others(41): Show c.1741+3979_1741+3980insTATATATATATATATACACACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	266	0.0038	22	c.127 others(41): Show c.127-31252_127-31251insATATATATATATATATATATTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	266	0.0038	22	c.127 others(41): Show c.127-31252_127-31251insATATATATATATATATATTTTT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT7_chr4_173163811_173328967	173288282	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	266	0.0038	22	c.588 others(39): Show c.588-3824_588-3803dupAAAAAAAAAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT8_chr12_4715400_4777726	4720408	C C	CCTGAGCA others(15): Show CCTGAGCAACCTGTGGAAAGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG01891.hp1 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03453.hp2 NA19240.hp2 NA21309.hp2	a0005 a0021 a0005 a0021	a0005c0005 a0021c0019 a0005c0005 a0021c0019	a0005c0005t0005 a0005c0005t0006 a0021c0019t0008 a0005c0005t0005 a0005c0005t0006 a0021c0019t0008	a0005c0005t0005g0252 a0005c0005t0005g0271 a0005c0005t0005g0272 others(4): Show a0005c0005t0005g0252 a0005c0005t0005g0271 a0005c0005t0005g0272 a0005c0005t0005g0276 a0005c0005t0006g0256 a0005c0005t0006g0257 a0021c0019t0008g0275	7	338	0.0207	22	c.-24 others(31): Show c.-241_-220dupAACCTGTGGAAAGCCGCTGAGC	GALNT8	ENSG00000130035.9	transcript	ENST00000252318.7	protein_coding	1/11	219	INFO_REALIGN_3_PRIME	chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172219199	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03139.hp2 HG02258.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0026 a0001c0001t0001g0017 a0001c0001t0002g0026	2	40	0.0500	22	c.139 others(41): Show c.139-10454_139-10433dupTATATATATATATATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172503526	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	40	0.0250	22	c.553 others(43): Show c.553+154839_553+154860dupATATATATATATATATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172528952	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	40	0.0250	22	c.553 others(43): Show c.553+180275_553+180276insATATATATATATATATATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77281061	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0028 a0001c0004t0028	a0001c0004t0028g0335 a0001c0004t0028g0335	1	366	0.0027	22	c.12 others(35): Show c.12159_*12160insTATATATATATATATATATATA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3162		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00609.hp2 others(36): Show HG00140.hp1 HG00558.hp1 HG00609.hp2 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01978.hp1 HG01993.hp2 HG02055.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02523.hp2 HG02559.hp2 HG02717.hp2 HG02809.hp2 HG03239.hp2 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp1 NA18948.hp2 NA18959.hp2 NA18982.hp2 NA19066.hp1 NA19074.hp2 NA19078.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0007	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(25): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0032 a0001c0001t0038 a0001c0001t0057 a0001c0001t0073 a0001c0001t0083 a0001c0001t0106 a0001c0001t0146 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0022 a0001c0002t0029 a0001c0002t0049 a0001c0002t0050 a0001c0002t0058 a0001c0002t0126 a0001c0002t0134 a0001c0004t0018 a0001c0004t0052 a0001c0004t0064 a0003c0007t0053	a0001c0001t0003g0259 a0001c0001t0003g0291 a0001c0001t0008g0019 others(34): Show a0001c0001t0003g0259 a0001c0001t0003g0291 a0001c0001t0008g0019 a0001c0001t0009g0059 a0001c0001t0009g0062 a0001c0001t0009g0090 a0001c0001t0010g0256 a0001c0001t0015g0019 a0001c0001t0015g0305 a0001c0001t0016g0319 a0001c0001t0026g0042 a0001c0001t0032g0230 a0001c0001t0038g0018 a0001c0001t0057g0309 a0001c0001t0073g0339 a0001c0001t0083g0269 a0001c0001t0106g0048 a0001c0001t0146g0241 a0001c0002t0002g0137 a0001c0002t0002g0199 a0001c0002t0002g0311 a0001c0002t0004g0003 a0001c0002t0004g0168 a0001c0002t0007g0135 a0001c0002t0022g0170 a0001c0002t0022g0202 a0001c0002t0029g0138 a0001c0002t0029g0190 a0001c0002t0049g0159 a0001c0002t0050g0012 a0001c0002t0058g0022 a0001c0002t0126g0171 a0001c0002t0134g0198 a0001c0004t0018g0331 a0001c0004t0052g0323 a0001c0004t0064g0326 a0003c0007t0053g0131	39	366	0.1066	22	c.12 others(35): Show c.12160_*12161insATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA19057.hp1 NA19062.hp2 NA18948.hp1 NA19057.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0151 a0001c0001t0011 a0001c0001t0151	a0001c0001t0011g0123 a0001c0001t0011g0306 a0001c0001t0151g0104 a0001c0001t0011g0123 a0001c0001t0011g0306 a0001c0001t0151g0104	3	366	0.0082	22	c.12 others(35): Show c.12188_*12189insATATATATATATATATATATAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar
GALR2_chr17_76069781_76082537	76070850	G G	GCACATGC others(15): Show GCACATGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	405	0.0025	22	c.-40 others(33): Show c.-4034_-4033insCACATGCACACACACACACACA	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		3930		chr17	TogoVar
GALR2_chr17_76069781_76082537	76077966	C C	CGGGGGGG others(15): Show CGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG04115.hp2 NA19240.hp1 HG01361.hp2 HG04115.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	405	0.0074	22	c.53 others(31): Show c.535_*536insGGGGGGGGGGGGGGGGGGGGGG	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		430		chr17	TogoVar
GALT_chr9_34641675_34656035	34644352	T T	TATATATA others(15): Show TATATATATATATATATATAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	416	0.0024	22	c.-23 others(33): Show c.-2353_-2352insATATATATATATATATATAAAA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2322		chr9	TogoVar
GALT_chr9_34641675_34656035	34644352	T T	TATATATA others(15): Show TATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp1 NA18962.hp2 NA18939.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	22	c.-23 others(33): Show c.-2353_-2352insATATATATATATATATATATAA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2322		chr9	TogoVar
GAP43_chr3_115618510_115726483	115641510	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	352	0.0028	22	c.30+ others(39): Show c.30+17803_30+17824dupACACACACACACACACACACAC	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115661831	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG03453.hp2 HG01891.hp2 HG02280.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0242 a0001c0001t0001g0346 a0001c0001t0002g0243 a0001c0001t0001g0242 a0001c0001t0001g0346 a0001c0001t0002g0243	3	352	0.0085	22	c.31- others(39): Show c.31-14168_31-14167insTTTTTTTTTTTTTTTTTTTTTT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAREM1_chr18_32258522_32475882	32364026	A A	ATATATGT others(15): Show ATATATGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18747.hp1 NA18982.hp2 others(2): Show HG01123.hp1 NA18747.hp1 NA18982.hp2 NA18990.hp2 NA19001.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0008 a0003c0007 a0001c0002 a0001c0008 a0003c0007	a0001c0002t0006 a0001c0002t0016 a0001c0008t0008 others(1): Show a0001c0002t0006 a0001c0002t0016 a0001c0008t0008 a0003c0007t0002	a0001c0002t0006g0066 a0001c0002t0016g0052 a0001c0008t0008g0019 others(2): Show a0001c0002t0006g0066 a0001c0002t0016g0052 a0001c0008t0008g0019 a0003c0007t0002g0027 a0003c0007t0002g0028	5	192	0.0260	22	c.262 others(41): Show c.262+28868_262+28869insAAAAAAAAAAAAAAAACATATA	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	2/5			chr18	TogoVar

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