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
GABRA5_chr15_26862062_26954208	26911388	C C	CACACACA others(23): Show CACACACACAAACACACACAAACACACACAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	376	0.0027	30	c.498 others(47): Show c.498-3396_498-3395insAACACACACAAACACACACAAACACACA CA	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRB1_chr4_47026567_47431447	47125559	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 NA20805.hp2 HG00735.hp2 HG01361.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0009g0046 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0009g0046	3	158	0.0190	30	c.241 others(49): Show c.241-35676_241-35675insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246371	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18906.hp2 HG02258.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0005 a0001c0001t0004 a0001c0003t0005	a0001c0001t0004g0025 a0001c0003t0005g0026 a0001c0001t0004g0025 a0001c0003t0005g0026	2	158	0.0127	30	c.462 others(49): Show c.462-73755_462-73754insCACACACACACACACACACACACACA CACA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18982.hp1 HG01358.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0255 a0001c0001t0001g0162 a0001c0001t0001g0255	2	266	0.0075	30	c.459 others(47): Show c.459-5640_459-5639insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554021	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG03471.hp2 HG01891.hp2 HG02145.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0002g0107 a0001c0001t0006g0128 a0001c0001t0008g0056 a0001c0001t0002g0107 a0001c0001t0006g0128 a0001c0001t0008g0056	3	204	0.0147	30	c.108 others(49): Show c.1081-5888_1081-5887insTATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554039	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp1 others(6): Show HG00140.hp2 HG00639.hp2 HG00673.hp1 HG01071.hp2 HG01081.hp2 NA18980.hp1 NA18989.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0113 others(6): Show a0001c0001t0002g0013 a0001c0001t0002g0069 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0142 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0003g0167	9	204	0.0441	30	c.108 others(49): Show c.1081-5906_1081-5905insAATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554043	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	204	0.0049	30	c.108 others(49): Show c.1081-5910_1081-5909insAATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554176	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02896.hp1 HG03471.hp1 HG02698.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0034 a0001c0001t0001 a0001c0001t0015 a0001c0001t0034	a0001c0001t0001g0188 a0001c0001t0015g0197 a0001c0001t0034g0203 a0001c0001t0001g0188 a0001c0001t0015g0197 a0001c0001t0034g0203	3	204	0.0147	30	c.108 others(49): Show c.1081-6043_1081-6042insTATATATATATATATATATATATATA TATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0087 a0001c0001t0004g0087	1	204	0.0049	30	c.108 others(49): Show c.1081-6057_1081-6056insATATATATATATATATATATATATAT ATAT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTG others(23): Show ATAAAGTGTGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	204	0.0049	30	c.108 others(49): Show c.1081-6057_1081-6056insATATATATATATATATATATACACAC TTTA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46118132	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0298 a0001c0002t0007g0299 a0001c0002t0007g0298 a0001c0002t0007g0299	2	308	0.0065	30	c.104 others(47): Show c.104+5677_104+5678insTATATATATATATATATATATATATATA CA	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG03516.hp2 HG02486.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0025 a0001c0002t0004g0038 a0001c0002t0012g0021 a0001c0002t0004g0025 a0001c0002t0004g0038 a0001c0002t0012g0021	3	308	0.0097	30	c.-44 others(41): Show c.-4409_-4408insATATATATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG3_chr15_26966181_27546984	27265882	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 NA19030.hp2 HG01884.hp1 HG02145.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0019 a0001c0005t0005 a0001c0002t0001 a0001c0003t0019 a0001c0005t0005	a0001c0002t0001g0009 a0001c0003t0019g0064 a0001c0005t0005g0045 a0001c0002t0001g0009 a0001c0003t0019g0064 a0001c0005t0005g0045	3	92	0.0326	30	c.271 others(49): Show c.271-60912_271-60911insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307595	A A	ATATTTAT others(23): Show ATATTTATATATAAACATAGGTTTATAGGTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18522.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0002 a0001c0007t0004 a0001c0005t0002 a0001c0007t0004	a0001c0005t0002g0055 a0001c0007t0004g0056 a0001c0005t0002g0055 a0001c0007t0004g0056	2	92	0.0217	30	c.271 others(49): Show c.271-19210_271-19181dupTTATATATAAACATAGGTTTATAGGT TTAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR2_chr6_89249464_89320299	89292830	G G	GTATATAC others(23): Show GTATATACGATATATCGTATATATCATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	366	0.0027	30	c.220 others(47): Show c.220+6899_220+6928dupATATATGATATATACGATATATCGTATA TA	GABRR2	ENSG00000111886.11	transcript	ENST00000402938.4	protein_coding	2/8			chr6	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02132.hp1 HG03491.hp2 others(4): Show HG01981.hp2 HG02132.hp1 HG03491.hp2 NA18612.hp1 NA18957.hp1 NA19066.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0036	a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0261 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0096 a0001c0001t0001g0261 a0001c0001t0002g0089 a0001c0001t0003g0275 a0001c0001t0018g0079 a0001c0001t0036g0100	7	282	0.0248	30	c.38- others(45): Show c.38-5675_38-5674insGTATATATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18950.hp2 HG03471.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0058 a0001c0001t0004g0117 a0001c0001t0001g0058 a0001c0001t0004g0117	2	282	0.0071	30	c.-63 others(39): Show c.-634_-633insCACACACACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE12H_chrX_49574949_49592301	49591724	T T	TAGTACTG others(23): Show TAGTACTGACCCAAGAATAGACCCAGTTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(113): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 NA18522.hp1 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18968.hp1 NA18968.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0002c0003 a0003c0005 a0004c0006 a0005c0007 a0006c0010 a0007c0013 a0008c0008 a0009c0014 a0010c0012 a0011c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0004t0001 a0001c0011t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0003c0005t0001 a0003c0005t0007 a0004c0006t0001 a0005c0007t0002 a0006c0010t0010 a0007c0013t0002 a0008c0008t0004 a0009c0014t0001 a0010c0012t0001 a0011c0009t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0071 a0001c0001t0003g0079 a0001c0001t0008g0018 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0046 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0047 a0001c0002t0002g0055 a0001c0002t0004g0010 a0001c0002t0004g0073 a0001c0002t0004g0075 a0001c0002t0004g0076 a0001c0002t0004g0077 a0001c0002t0004g0089 a0001c0002t0005g0019 a0001c0002t0005g0020 a0001c0002t0005g0022 a0001c0002t0006g0021 a0001c0002t0009g0001 a0001c0004t0001g0028 a0001c0004t0001g0040 a0001c0004t0001g0045 a0001c0004t0001g0048 a0001c0004t0001g0074 a0001c0011t0001g0064 a0002c0003t0001g0005 a0002c0003t0001g0049 a0002c0003t0001g0058 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0001g0068 a0002c0003t0001g0069 a0002c0003t0001g0070 a0002c0003t0001g0087 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0088 a0002c0003t0005g0080 a0002c0003t0005g0081 a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0063 a0003c0005t0001g0091 a0003c0005t0007g0062 a0004c0006t0001g0056 a0004c0006t0001g0057 a0004c0006t0001g0072 a0005c0007t0002g0083 a0005c0007t0002g0084 a0006c0010t0010g0023 a0007c0013t0002g0050 a0008c0008t0004g0078 a0009c0014t0001g0012 a0010c0012t0001g0059 a0011c0009t0011g0090	116	116	1.0000	30	c.45 others(41): Show c.4514_*4515insAGTACTGACCCAAGAATAGACCCAGTTCAG	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding		4424		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49591724	T T	TAGTACTG others(23): Show TAGTACTGACCCAAGAATAGACCCAGTTCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18980.hp1 NA18980.hp2 NA18987.hp1 NA18987.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19086.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0004 a0001c0005 others(8): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0002c0001 a0003c0003 a0004c0007 a0005c0011 a0006c0008	a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 others(15): Show a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0007 a0001c0005t0008 a0001c0006t0001 a0001c0009t0001 a0001c0010t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0003c0003t0001 a0003c0003t0003 a0004c0007t0002 a0005c0011t0005 a0006c0008t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0011 others(88): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0094 a0001c0002t0005g0084 a0001c0004t0001g0007 a0001c0004t0001g0062 a0001c0004t0001g0064 a0001c0004t0001g0073 a0001c0004t0001g0093 a0001c0004t0004g0004 a0001c0005t0001g0072 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0087 a0001c0005t0001g0089 a0001c0005t0001g0090 a0001c0005t0007g0018 a0001c0005t0008g0056 a0001c0006t0001g0061 a0001c0006t0001g0078 a0001c0009t0001g0071 a0001c0010t0001g0053 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0014 a0002c0001t0001g0021 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0031 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0001g0086 a0002c0001t0002g0003 a0002c0001t0002g0005 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0040 a0002c0001t0002g0041 a0002c0001t0002g0085 a0002c0001t0006g0080 a0002c0001t0006g0081 a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0042 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0003g0022 a0003c0003t0003g0043 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0051 a0003c0003t0003g0052 a0003c0003t0003g0088 a0004c0007t0002g0082 a0005c0011t0005g0058 a0006c0008t0001g0060	126	130	0.9692	30	c.202 others(45): Show c.202+409_202+410insTACTGACCCAAGAATAGACCCAGTTCAGAG	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAK_chr4_844277_937316	894256	G G	GCGCAGGG others(23): Show GCGCAGGGGTGACACCGGGGCCTGCGGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(75): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19060.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp2 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0007 a0017 a0020 a0022 a0023 a0024 a0026 a0033	a0001c0001 a0001c0004 a0001c0008 others(15): Show a0001c0001 a0001c0004 a0001c0008 a0001c0027 a0001c0038 a0001c0054 a0001c0055 a0003c0006 a0004c0009 a0005c0052 a0007c0015 a0017c0037 a0020c0026 a0022c0033 a0023c0051 a0024c0048 a0026c0053 a0033c0020	a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 others(16): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0027t0001 a0001c0038t0001 a0001c0054t0001 a0001c0055t0001 a0003c0006t0001 a0004c0009t0001 a0005c0052t0001 a0007c0015t0001 a0017c0037t0001 a0020c0026t0001 a0022c0033t0008 a0023c0051t0001 a0024c0048t0001 a0026c0053t0001 a0033c0020t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(75): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0322 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0346 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0004t0002g0105 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0100 a0001c0008t0001g0101 a0001c0008t0001g0307 a0001c0008t0001g0308 a0001c0008t0001g0309 a0001c0008t0001g0310 a0001c0027t0001g0077 a0001c0038t0001g0053 a0001c0054t0001g0080 a0001c0055t0001g0065 a0003c0006t0001g0287 a0003c0006t0001g0298 a0004c0009t0001g0261 a0004c0009t0001g0262 a0005c0052t0001g0102 a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0264 a0017c0037t0001g0052 a0020c0026t0001g0086 a0022c0033t0008g0087 a0023c0051t0001g0076 a0024c0048t0001g0272 a0026c0053t0001g0093 a0033c0020t0001g0006	78	390	0.2000	30	c.742 others(45): Show c.742-248_742-247insTTCCCCGCAGGCCCCGGTGTCACCCCTGCG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	7/27			chr4	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02165.hp1 HG02280.hp1 others(2): Show HG00621.hp1 HG02165.hp1 HG02280.hp1 HG02723.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0313 others(2): Show a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0313 a0001c0001t0001g0314 a0002c0004t0002g0284	5	370	0.0135	30	c.191 others(49): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(23): Show TATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03453.hp1 HG03516.hp1 HG02258.hp1 HG03453.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0068 a0001c0001t0002g0165 a0001c0001t0002g0166	3	348	0.0086	30	c.267 others(47): Show c.267-7163_267-7162insATATATATATATATATATACATACATAT AT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG06807.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0048 a0001c0001t0002 a0001c0005t0048	a0001c0001t0002g0077 a0001c0005t0048g0064 a0001c0001t0002g0077 a0001c0005t0048g0064	2	348	0.0058	30	c.267 others(47): Show c.267-7163_267-7162insATATATATATATATATATATATACATAT AT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0233 a0001c0004t0001g0233	1	236	0.0042	30	c.160 others(47): Show c.160-1202_160-1201insATATATATATATATATATATATATATTT TT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03942.hp1 HG02040.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0068 a0001c0001t0011 a0001c0001t0068	a0001c0001t0011g0001 a0001c0001t0068g0177 a0001c0001t0011g0001 a0001c0001t0068g0177	2	214	0.0094	30	c.-17 others(51): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02273.hp2 HG02602.hp1 HG01346.hp1 HG02273.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0027g0014 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0027g0014	3	214	0.0140	30	c.142 others(49): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269904	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0006 a0001c0001t0066g0006	1	214	0.0047	30	c.975 others(49): Show c.975+10767_975+10768insATATATATATATATATATATATATAT ATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01358.hp1 HG01952.hp2 others(12): Show HG00642.hp1 HG01358.hp1 HG01952.hp2 HG01978.hp1 HG02155.hp1 HG02451.hp1 HG02615.hp2 HG03834.hp2 NA18952.hp2 NA18953.hp1 NA19006.hp2 NA19011.hp2 NA19060.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0029 a0001c0001t0047 a0001c0001t0073 a0002c0002t0038	a0001c0001t0003g0025 a0001c0001t0004g0189 a0001c0001t0005g0117 others(12): Show a0001c0001t0003g0025 a0001c0001t0004g0189 a0001c0001t0005g0117 a0001c0001t0005g0121 a0001c0001t0005g0125 a0001c0001t0007g0190 a0001c0001t0007g0197 a0001c0001t0007g0198 a0001c0001t0008g0022 a0001c0001t0009g0102 a0001c0001t0017g0172 a0001c0001t0029g0166 a0001c0001t0047g0114 a0001c0001t0073g0081 a0002c0002t0038g0113	15	214	0.0701	30	c.975 others(49): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02735.hp2 HG03017.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0021 a0001c0001t0032	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(9): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0003g0059 a0001c0001t0005g0123 a0001c0001t0008g0057 a0001c0001t0019g0078 a0001c0001t0021g0178 a0001c0001t0032g0079	12	214	0.0561	30	c.975 others(49): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT ATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154298430	T T	TATATATA others(23): Show TATATATAAATTATATATAATTTATATATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG02523.hp2 others(2): Show HG00735.hp2 HG01261.hp2 HG02523.hp2 HG02738.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0021 a0001c0001t0061	a0001c0001t0002g0146 a0001c0001t0005g0101 a0001c0001t0009g0126 others(2): Show a0001c0001t0002g0146 a0001c0001t0005g0101 a0001c0001t0009g0126 a0001c0001t0021g0140 a0001c0001t0061g0045	5	214	0.0234	30	c.976 others(47): Show c.976-2959_976-2930dupTTTATATATACATATATAAATTATATAT AA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989560	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02647.hp2 HG00609.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0093 a0001c0001t0001g0035 a0001c0001t0001g0093	2	226	0.0089	30	c.299 others(47): Show c.299+3277_299+3278insTATATATATATATATATATATATATATA TA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31087477	A A	AAGGAGAG others(23): Show AAGGAGAGGAGAAGAGAGGAGAGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02451.hp2 others(2): Show HG01109.hp2 HG02145.hp2 HG02451.hp2 HG02647.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0123 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0002t0003g0181	5	226	0.0221	30	c.129 others(49): Show c.129+50451_129+50480dupCTCCTCTCCTCTCCTCTCTTCTCCTC TCCT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT16_chr14_69255158_69359466	69345703	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0130 a0001c0001t0008g0130	1	306	0.0033	30	c.127 others(49): Show c.1272-1332_1272-1303dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02895.hp1 HG03492.hp2 others(1): Show HG02129.hp1 HG02895.hp1 HG03492.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0018	a0001c0001t0003g0001 a0001c0001t0005g0054 a0001c0001t0007g0055 others(1): Show a0001c0001t0003g0001 a0001c0001t0005g0054 a0001c0001t0007g0055 a0001c0001t0018g0016	4	76	0.0526	30	c.238 others(49): Show c.238+68200_238+68201insATATATATATATATATATATATATAT ATAT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	76	0.0132	30	c.239 others(49): Show c.239-70431_239-70430insATATATATATATATATATATTTTTTT TTTT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71592544	A A	AATAAAAT others(23): Show AATAAAATAAAATAAAATAAAATAGCATAGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG00642.hp1 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0032 a0001c0002t0003g0006 a0001c0001t0001g0032 a0001c0002t0003g0006	2	76	0.0263	30	c.108 others(51): Show c.1080+21145_1080+21146insAAATAAAATAAAATAAAATAGCAT AGCATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693307	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	76	0.0132	30	c.150 others(51): Show c.1500+16002_1500+16003insTATATATATATATATATATATATA TATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11625115	C C	CTCCTGCC others(23): Show CTCCTGCCACAAGAGGAGAGTGAGTGCCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02886.hp2 others(6): Show HG01192.hp1 HG01884.hp1 HG02886.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2 HG03540.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0021	a0001c0001t0002 a0001c0001t0014 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0002 a0001c0003t0002 a0001c0004t0002 a0001c0021t0002	a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0014g0095 others(6): Show a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0014g0095 a0001c0002t0002g0038 a0001c0003t0002g0036 a0001c0003t0002g0040 a0001c0004t0002g0035 a0001c0004t0002g0037 a0001c0021t0002g0034	9	260	0.0346	30	c.-35 others(41): Show c.-3523_-3522insCAAGGCACTCACTCTCCTCTTGTGGCAGGA	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding		3111		chr11	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(23): Show TATATATATATATATATATATACATATACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0248 a0001c0002t0086g0248	1	282	0.0036	30	c.174 others(49): Show c.1741+3979_1741+3980insTATATATATATATATATATACATATA CACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 NA19043.hp1 HG03209.hp1 HG03516.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0005 a0004c0006 a0001c0002 a0002c0005 a0004c0006	a0001c0002t0066 a0002c0005t0002 a0004c0006t0014 a0001c0002t0066 a0002c0005t0002 a0004c0006t0014	a0001c0002t0066g0096 a0002c0005t0002g0198 a0004c0006t0014g0168 a0001c0002t0066g0096 a0002c0005t0002g0198 a0004c0006t0014g0168	3	282	0.0106	30	c.174 others(49): Show c.1741+3979_1741+3980insTATATATATATATATATATATACACA CACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0064 a0002c0005t0064	a0002c0005t0064g0203 a0002c0005t0064g0203	1	282	0.0036	30	c.174 others(49): Show c.1741+3979_1741+3980insTATATATATATATATATATATATACA CACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0087 a0001c0002t0087	a0001c0002t0087g0259 a0001c0002t0087g0259	1	282	0.0036	30	c.174 others(49): Show c.1741+3979_1741+3980insTATATATATATATATATATATATATA CACA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132198427	C C	CGGGGCTG others(23): Show CGGGGCTGGGGCTGGGGCTGGGGCTGGGGCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	183	0.0055	30	c.149 others(47): Show c.1498-469_1498-468insAGCCCCAGCCCCAGCCCCAGCCCCAGCC CC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	9/10			chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172058113	G G	GTTGTTTT others(23): Show GTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	40	0.0250	30	c.139 others(51): Show c.139-171532_139-171503dupTTGTTTTGTTTTGTTTTGTTTTGT TTTGTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172177785	A A	ATGTGTAT others(23): Show ATGTGTATATATATACACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	40	0.0250	30	c.139 others(49): Show c.139-51858_139-51829dupTACACACACATATATGTGTGTGTATA TATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172528952	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG02735.hp1 others(2): Show HG02015.hp2 HG02145.hp2 HG02735.hp1 HG02965.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0002g0009 a0001c0001t0008g0010	5	40	0.1250	30	c.553 others(51): Show c.553+180275_553+180276insATATATATATATATATATATATAT ATATAT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCATCACC others(23): Show CCATCACCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0045 a0003c0005t0045	a0003c0005t0045g0046 a0003c0005t0045g0046	1	366	0.0027	30	c.666 others(47): Show c.666+1786_666+1787insTCACCACCACCACCATCACCACCACCAT CA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259287	G G	GTGGTCAT others(23): Show GTGGTCATGGTGGTGATGATGGTGGTGATGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0025 a0002c0003t0025	a0002c0003t0025g0126 a0002c0003t0025g0126	1	366	0.0027	30	c.732 others(47): Show c.732+3069_732+3098dupCATGGTGGTGATGATGGTGGTGATGATG GT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77281062	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG01109.hp2 others(22): Show HG00280.hp2 HG00673.hp2 HG01109.hp2 HG01433.hp1 HG02015.hp2 HG02056.hp2 HG02148.hp1 HG02273.hp2 HG02698.hp1 HG02886.hp2 HG03688.hp2 HG04204.hp2 HG06807.hp2 NA18940.hp2 NA18942.hp1 NA18966.hp2 NA18970.hp1 NA18979.hp2 NA18995.hp2 NA19003.hp1 NA19007.hp1 NA19062.hp1 NA19072.hp1 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(18): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0041 a0001c0001t0057 a0001c0001t0084 a0001c0001t0090 a0001c0001t0095 a0001c0001t0107 a0001c0001t0144 a0001c0001t0148 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0127 a0001c0002t0141 a0001c0002t0142	a0001c0001t0003g0266 a0001c0001t0003g0285 a0001c0001t0005g0289 others(22): Show a0001c0001t0003g0266 a0001c0001t0003g0285 a0001c0001t0005g0289 a0001c0001t0005g0302 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0010g0286 a0001c0001t0019g0234 a0001c0001t0023g0245 a0001c0001t0026g0027 a0001c0001t0041g0097 a0001c0001t0041g0253 a0001c0001t0057g0310 a0001c0001t0084g0292 a0001c0001t0090g0110 a0001c0001t0095g0301 a0001c0001t0107g0107 a0001c0001t0144g0308 a0001c0001t0148g0238 a0001c0002t0002g0211 a0001c0002t0004g0149 a0001c0002t0007g0146 a0001c0002t0127g0182 a0001c0002t0141g0193 a0001c0002t0142g0128	25	366	0.0683	30	c.12 others(43): Show c.12160_*12161insATATATATATATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3163		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281090	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	366	0.0027	30	c.12 others(43): Show c.12188_*12189insATATATATATATATATATATATATATATAA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3191		chr18	TogoVar

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