Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
GAGE12H_chrX_49574949_49592301	49581185	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0064 a0011c0011t0001g0064	1	116	0.0086	0	c.82C others(2): Show c.82C>T	p.Arg others(5): Show p.Arg28Trp	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding	2/5	198/561	82/354	28/117		chrX	TogoVar
GAGE12H_chrX_49574949_49592301	49581770	CA CA	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG03927.hp1 HG03927.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0050 a0012c0013t0002g0050	1	116	0.0086	-1	c.204 others(4): Show c.204delA	p.Pro others(4): Show p.Pro70fs	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding	3/5	320/561	204/354	68/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49322151	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0007 a0008c0008 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0013c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0005c0005t0002 a0006c0006t0002 a0007c0007t0003 a0008c0008t0001 a0009c0011t0002 a0010c0012t0002 a0011c0013t0002 a0012c0014t0002 a0013c0009t0005	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0004g0015 a0002c0002t0001g0005 a0002c0002t0001g0064 a0003c0003t0001g0005 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0088 a0005c0005t0002g0011 a0005c0005t0002g0046 a0005c0005t0002g0047 a0006c0006t0002g0006 a0007c0007t0003g0043 a0007c0007t0003g0044 a0008c0008t0001g0007 a0009c0011t0002g0008 a0010c0012t0002g0070 a0011c0013t0002g0065 a0012c0014t0002g0072 a0013c0009t0005g0042	118	194	0.6083	0	c.-9+ others(4): Show c.-9+7C>G		GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	1/4					chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49323276	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00408.hp2 others(84): Show HG00099.hp1 HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02451.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp1 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19010.hp2 NA19056.hp1 NA19064.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA20805.hp1 NA20905.hp1	a0001 a0009 a0010 others(2): Show a0001 a0009 a0010 a0011 a0012	a0001c0001 a0009c0011 a0010c0012 others(2): Show a0001c0001 a0009c0011 a0010c0012 a0011c0013 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0009c0011t0002 a0010c0012t0002 a0011c0013t0002 a0012c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 others(44): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0004g0015 a0009c0011t0002g0008 a0010c0012t0002g0070 a0011c0013t0002g0065 a0012c0014t0002g0072	87	194	0.4485	0	c.83G others(2): Show c.83G>A	p.Arg others(5): Show p.Arg28Gln	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	2/5	199/561	83/354	28/117		chrX	TogoVar
GAGE12J_chrX_49317037_49334384	49329273	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(83): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01928.hp1 HG01943.hp1 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp1 NA18522.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0002 a0003c0003 a0014c0010 a0002c0002 a0003c0003 a0014c0010	a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0014c0010t0001	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0010 others(30): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0010 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0064 a0002c0002t0006g0018 a0003c0003t0001g0005 a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0016 a0003c0003t0001g0023 a0003c0003t0001g0026 a0003c0003t0001g0037 a0003c0003t0001g0040 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0088 a0014c0010t0001g0001	86	194	0.4433	0	c.334 others(3): Show c.334G>A	p.Glu others(6): Show p.Glu112Lys	GAGE12J	ENSG00000224659.3	transcript	ENST00000442437.3	protein_coding	5/5	450/561	334/354	112/117		chrX	TogoVar
GAGE13_chrX_49326582_49343949	49332820	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01123.hp1 HG01978.hp2 NA18969.hp1 HG01123.hp1 HG01978.hp2 NA18969.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0050 a0005c0005t0004g0051 a0005c0005t0004g0052 a0005c0005t0004g0050 a0005c0005t0004g0051 a0005c0005t0004g0052	3	93	0.0323	0	c.83G others(2): Show c.83G>A	p.Arg others(5): Show p.Arg28Gln	GAGE13	ENSG00000274274.2	transcript	ENST00000612958.2	protein_coding	2/5	199/561	83/354	28/117		chrX	TogoVar
GAGE13_chrX_49326582_49343949	49338838	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp2 HG01081.hp1 HG01167.hp1 others(21): Show HG00408.hp2 HG01081.hp1 HG01167.hp1 HG01256.hp1 HG01928.hp1 HG02080.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG03239.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 NA18747.hp1 NA18948.hp1 NA18963.hp1 NA18998.hp2 NA19012.hp1 NA19062.hp1 NA19089.hp1 NA20129.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0007c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0012 others(13): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0032 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0006g0011 a0002c0002t0007g0020 a0007c0007t0001g0002	24	93	0.2581	0	c.334 others(3): Show c.334G>A	p.Glu others(6): Show p.Glu112Lys	GAGE13	ENSG00000274274.2	transcript	ENST00000612958.2	protein_coding	5/5	450/561	334/354	112/117		chrX	TogoVar
GAGE1_chrX_49594020_49613538	49600167	T T	TG TG	splice_region_variant splice_region_variant	LOW	NA19077.hp1 NA19077.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0012 a0010c0011t0012	a0010c0011t0012g0062 a0010c0011t0012g0062	1	311	0.0032	1	c.-7d others(3): Show c.-7dupG		GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	2/5				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE1_chrX_49594020_49613538	49600717	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19059.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0057 a0002c0002t0003g0057	1	311	0.0032	-1	c.85- others(5): Show c.85-3delC		GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	2/4				INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE1_chrX_49594020_49613538	49603666	A A	AG AG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	311	0.0032	1	c.207 others(4): Show c.207dupG	p.Pro others(4): Show p.Pro70fs	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding	4/5	324/2993	208/354	70/117	INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49594251	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	130	0.0077	0	c.328 others(5): Show c.328+8A>G		GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding	4/4					chrX	TogoVar
GAK_chr4_844277_937316	849886	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp2 HG00438.hp2 others(38): Show HG00280.hp1 HG00280.hp2 HG00438.hp2 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG02015.hp2 HG02040.hp2 HG02486.hp1 HG02735.hp2 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18944.hp2 NA18949.hp2 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18986.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp2 NA19007.hp1 NA19060.hp1 NA19070.hp1 NA19091.hp2 NA20752.hp2	a0001 a0005 a0013 others(2): Show a0001 a0005 a0013 a0018 a0024	a0001c0001 a0001c0004 a0001c0023 others(5): Show a0001c0001 a0001c0004 a0001c0023 a0001c0047 a0005c0044 a0013c0045 a0018c0029 a0024c0020	a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 others(5): Show a0001c0001t0001 a0001c0004t0001 a0001c0023t0001 a0001c0047t0001 a0005c0044t0001 a0013c0045t0001 a0018c0029t0008 a0024c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0074 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0004t0001g0016 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0083 a0001c0004t0001g0085 a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0094 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0104 a0001c0004t0001g0106 a0001c0004t0001g0110 a0001c0023t0001g0077 a0001c0047t0001g0065 a0005c0044t0001g0102 a0013c0045t0001g0093 a0018c0029t0008g0087 a0024c0020t0001g0006	41	390	0.1051	0	c.383 others(6): Show c.3834+6C>T		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	27/27					chr4	TogoVar
GAK_chr4_844277_937316	866358	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(245): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(16): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0018 a0019 a0020 a0022 a0023 a0024	a0001c0001 a0001c0004 a0001c0008 others(31): Show a0001c0001 a0001c0004 a0001c0008 a0001c0012 a0001c0014 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0030 a0001c0031 a0001c0033 a0001c0042 a0001c0047 a0003c0006 a0004c0009 a0004c0011 a0005c0016 a0005c0044 a0007c0015 a0008c0017 a0009c0025 a0010c0026 a0011c0041 a0012c0034 a0013c0045 a0014c0032 a0016c0039 a0018c0029 a0019c0028 a0020c0048 a0022c0043 a0023c0049 a0024c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0008t0001 a0001c0012t0001 a0001c0014t0002 a0001c0019t0002 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0030t0002 a0001c0031t0001 a0001c0033t0001 a0001c0042t0001 a0001c0047t0001 a0003c0006t0001 a0004c0009t0001 a0004c0009t0006 a0004c0011t0001 a0005c0016t0001 a0005c0044t0001 a0007c0015t0001 a0008c0017t0002 a0009c0025t0002 a0010c0026t0002 a0011c0041t0001 a0012c0034t0001 a0013c0045t0001 a0014c0032t0001 a0016c0039t0001 a0018c0029t0008 a0019c0028t0001 a0020c0048t0001 a0022c0043t0001 a0023c0049t0002 a0024c0020t0001	a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 others(243): Show a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0213 a0001c0001t0004g0138 a0001c0001t0005g0296 a0001c0001t0007g0351 a0001c0004t0001g0016 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0072 a0001c0004t0001g0075 a0001c0004t0001g0076 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 a0001c0012t0001g0009 a0001c0012t0001g0010 a0001c0012t0001g0012 a0001c0012t0001g0015 a0001c0014t0002g0199 a0001c0014t0002g0214 a0001c0014t0002g0385 a0001c0019t0002g0107 a0001c0019t0002g0127 a0001c0021t0001g0292 a0001c0023t0001g0077 a0001c0024t0001g0021 a0001c0030t0002g0294 a0001c0031t0001g0116 a0001c0033t0001g0053 a0001c0042t0001g0347 a0001c0047t0001g0065 a0003c0006t0001g0162 a0003c0006t0001g0287 a0003c0006t0001g0298 a0003c0006t0001g0319 a0003c0006t0001g0353 a0003c0006t0001g0354 a0003c0006t0001g0356 a0003c0006t0001g0358 a0003c0006t0001g0360 a0003c0006t0001g0361 a0003c0006t0001g0362 a0003c0006t0001g0363 a0003c0006t0001g0364 a0003c0006t0001g0365 a0003c0006t0001g0366 a0003c0006t0001g0367 a0003c0006t0001g0368 a0003c0006t0001g0369 a0003c0006t0001g0370 a0003c0006t0001g0371 a0003c0006t0001g0372 a0003c0006t0001g0373 a0003c0006t0001g0374 a0004c0009t0001g0261 a0004c0009t0001g0262 a0004c0009t0001g0378 a0004c0009t0001g0379 a0004c0009t0001g0381 a0004c0009t0006g0377 a0004c0011t0001g0293 a0004c0011t0001g0382 a0004c0011t0001g0383 a0004c0011t0001g0384 a0005c0016t0001g0291 a0005c0016t0001g0300 a0005c0016t0001g0301 a0005c0044t0001g0102 a0007c0015t0001g0023 a0007c0015t0001g0263 a0007c0015t0001g0264 a0008c0017t0002g0208 a0008c0017t0002g0209 a0009c0025t0002g0118 a0010c0026t0002g0136 a0011c0041t0001g0321 a0012c0034t0001g0327 a0013c0045t0001g0093 a0014c0032t0001g0052 a0016c0039t0001g0323 a0018c0029t0008g0087 a0019c0028t0001g0380 a0020c0048t0001g0134 a0022c0043t0001g0359 a0023c0049t0002g0126 a0024c0020t0001g0006	248	390	0.6359	0	c.304 others(6): Show c.3043+6T>C		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	22/27					chr4	TogoVar
GAK_chr4_844277_937316	867437	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02647.hp1 HG02486.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0022 a0001c0024t0001g0021 a0001c0001t0001g0022 a0001c0024t0001g0021	2	390	0.0051	0	c.239 others(6): Show c.2396-5C>T		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	20/27					chr4	TogoVar
GAK_chr4_844277_937316	877210	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	390	0.0026	0	c.185 others(6): Show c.1857-3T>C		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	16/27					chr4	TogoVar
GAK_chr4_844277_937316	877813	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	390	0.0026	0	c.166 others(6): Show c.1662-4C>G		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	15/27					chr4	TogoVar
GAK_chr4_844277_937316	893488	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02071.hp2 NA19054.hp1 NA19074.hp2 HG02071.hp2 NA19054.hp1 NA19074.hp2	a0001 a0020 a0001 a0020	a0001c0019 a0020c0048 a0001c0019 a0020c0048	a0001c0019t0002 a0020c0048t0001 a0001c0019t0002 a0020c0048t0001	a0001c0019t0002g0107 a0001c0019t0002g0127 a0020c0048t0001g0134 a0001c0019t0002g0107 a0001c0019t0002g0127 a0020c0048t0001g0134	3	390	0.0077	0	c.879 others(3): Show c.879C>T	p.Arg others(6): Show p.Arg293Arg	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	9/28	1008/4461	879/3936	293/1311		chr4	TogoVar
GAK_chr4_844277_937316	904542	GCTACCTT others(83): Show GCTACCTTGAGGTCCCTGTGGATGATGGGCGGCTCCTAACCGAGTGGGAC CCGCACACAGAGGCCTTGGCAGCCGCGTGTGGAGGGAGCCA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0221 a0001c0007t0001g0221	1	390	0.0026	-90	c.525 others(102): Show c.525+5_525+94delTGGCTCCCTCCACACGCGGCTGCCAAGGCCTCT GTGTGCGGGTCCCACTCGGTTAGGAGCCGCCCATCATCCACAGGGACCTC AAGGTAG		GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27					chr4	TogoVar
GAL3ST1_chr22_30549635_30579665	30558272	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	452	0.0022	0	c.-10 others(5): Show c.-10+7G>T		GAL3ST1	ENSG00000128242.13	transcript	ENST00000406361.6	protein_coding	2/3					chr22	TogoVar
GAL3ST2_chr2_241771822_241809287	241776984	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0109 a0009c0013t0002g0109	1	314	0.0032	0	c.29G others(2): Show c.29G>C	p.Arg others(5): Show p.Arg10Thr	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	1/4	163/1452	29/1197	10/398		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241802041	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	314	0.0032	0	c.375 others(5): Show c.375+5C>T		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	3/3					chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241803347	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0055 a0001c0009t0001g0058 a0001c0009t0001g0055 a0001c0009t0001g0058	2	314	0.0064	0	c.378 others(3): Show c.378G>T	p.Val others(6): Show p.Val126Val	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding	4/4	512/1452	378/1197	126/398		chr2	TogoVar
GALC_chr14_87928014_87998182	87941390	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(339): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0006 a0001c0016 others(25): Show a0001c0001 a0001c0006 a0001c0016 a0001c0027 a0001c0029 a0002c0002 a0002c0004 a0002c0008 a0002c0011 a0002c0015 a0002c0025 a0004c0003 a0005c0007 a0006c0009 a0007c0013 a0008c0012 a0009c0014 a0010c0031 a0011c0028 a0012c0022 a0013c0026 a0014c0024 a0015c0023 a0016c0021 a0017c0030 a0018c0020 a0019c0018 a0020c0017	a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 others(30): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 a0001c0016t0001 a0001c0027t0001 a0001c0029t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0004t0002 a0002c0008t0002 a0002c0011t0002 a0002c0015t0002 a0002c0025t0002 a0004c0003t0004 a0004c0003t0005 a0005c0007t0002 a0006c0009t0001 a0007c0013t0001 a0008c0012t0008 a0009c0014t0001 a0010c0031t0001 a0011c0028t0001 a0012c0022t0002 a0013c0026t0002 a0014c0024t0002 a0015c0023t0002 a0016c0021t0002 a0017c0030t0002 a0018c0020t0002 a0019c0018t0004 a0020c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(298): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0294 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0006t0001g0026 a0001c0006t0001g0079 a0001c0006t0001g0138 a0001c0006t0001g0224 a0001c0006t0001g0254 a0001c0006t0001g0255 a0001c0006t0001g0263 a0001c0006t0001g0264 a0001c0006t0001g0267 a0001c0006t0001g0268 a0001c0006t0001g0269 a0001c0006t0001g0270 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0006t0001g0275 a0001c0006t0001g0276 a0001c0006t0011g0273 a0001c0016t0001g0020 a0001c0027t0001g0173 a0001c0029t0001g0223 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0319 a0002c0002t0002g0324 a0002c0002t0004g0310 a0002c0002t0006g0163 a0002c0002t0006g0190 a0002c0002t0006g0191 a0002c0002t0006g0192 a0002c0002t0006g0197 a0002c0002t0009g0183 a0002c0004t0002g0027 a0002c0004t0002g0028 a0002c0004t0002g0050 a0002c0004t0002g0086 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0281 a0002c0004t0002g0282 a0002c0004t0002g0283 a0002c0004t0002g0284 a0002c0004t0002g0285 a0002c0004t0002g0286 a0002c0004t0002g0287 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0290 a0002c0004t0002g0291 a0002c0004t0002g0292 a0002c0004t0002g0293 a0002c0008t0002g0127 a0002c0008t0002g0128 a0002c0008t0002g0129 a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 a0002c0008t0002g0133 a0002c0008t0002g0134 a0002c0008t0002g0135 a0002c0008t0002g0136 a0002c0008t0002g0137 a0002c0011t0002g0218 a0002c0011t0002g0219 a0002c0011t0002g0220 a0002c0011t0002g0221 a0002c0011t0002g0222 a0002c0015t0002g0140 a0002c0015t0002g0141 a0002c0025t0002g0164 a0004c0003t0004g0009 a0004c0003t0004g0011 a0004c0003t0004g0031 a0004c0003t0004g0032 a0004c0003t0004g0033 a0004c0003t0004g0038 a0004c0003t0004g0039 a0004c0003t0004g0041 a0004c0003t0004g0042 a0004c0003t0004g0043 a0004c0003t0004g0044 a0004c0003t0005g0003 a0004c0003t0005g0008 a0004c0003t0005g0034 a0004c0003t0005g0035 a0004c0003t0005g0036 a0004c0003t0005g0037 a0005c0007t0002g0005 a0005c0007t0002g0055 a0005c0007t0002g0295 a0005c0007t0002g0296 a0005c0007t0002g0297 a0005c0007t0002g0298 a0005c0007t0002g0299 a0005c0007t0002g0301 a0005c0007t0002g0302 a0006c0009t0001g0059 a0006c0009t0001g0114 a0006c0009t0001g0115 a0006c0009t0001g0116 a0006c0009t0001g0117 a0006c0009t0001g0118 a0006c0009t0001g0123 a0007c0013t0001g0119 a0007c0013t0001g0120 a0007c0013t0001g0121 a0007c0013t0001g0122 a0008c0012t0008g0010 a0008c0012t0008g0046 a0008c0012t0008g0047 a0009c0014t0001g0048 a0009c0014t0001g0049 a0010c0031t0001g0256 a0011c0028t0001g0058 a0012c0022t0002g0145 a0013c0026t0002g0179 a0014c0024t0002g0178 a0015c0023t0002g0142 a0016c0021t0002g0308 a0017c0030t0002g0300 a0018c0020t0002g0146 a0019c0018t0004g0045 a0020c0017t0001g0040	342	370	0.9243	0	c.183 others(6): Show c.1834+5C>G		GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	15/16					chr14	TogoVar
GALC_chr14_87928014_87998182	87950751	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(352): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0006 a0001c0016 others(25): Show a0001c0001 a0001c0006 a0001c0016 a0001c0027 a0001c0029 a0002c0002 a0002c0004 a0002c0008 a0002c0015 a0002c0025 a0003c0005 a0004c0003 a0005c0007 a0006c0009 a0007c0013 a0008c0012 a0009c0014 a0010c0031 a0011c0028 a0012c0022 a0013c0026 a0014c0024 a0015c0023 a0016c0021 a0017c0030 a0018c0020 a0019c0018 a0020c0017	a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 others(32): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0011 a0001c0016t0001 a0001c0027t0001 a0001c0029t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0004t0002 a0002c0008t0002 a0002c0015t0002 a0002c0025t0002 a0003c0005t0003 a0003c0005t0007 a0003c0005t0010 a0004c0003t0004 a0004c0003t0005 a0005c0007t0002 a0006c0009t0001 a0007c0013t0001 a0008c0012t0008 a0009c0014t0001 a0010c0031t0001 a0011c0028t0001 a0012c0022t0002 a0013c0026t0002 a0014c0024t0002 a0015c0023t0002 a0016c0021t0002 a0017c0030t0002 a0018c0020t0002 a0019c0018t0004 a0020c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(308): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0294 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0006t0001g0026 a0001c0006t0001g0079 a0001c0006t0001g0138 a0001c0006t0001g0224 a0001c0006t0001g0254 a0001c0006t0001g0255 a0001c0006t0001g0263 a0001c0006t0001g0264 a0001c0006t0001g0267 a0001c0006t0001g0268 a0001c0006t0001g0269 a0001c0006t0001g0270 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0006t0001g0275 a0001c0006t0001g0276 a0001c0006t0011g0273 a0001c0016t0001g0020 a0001c0027t0001g0173 a0001c0029t0001g0223 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0139 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0319 a0002c0002t0002g0324 a0002c0002t0004g0310 a0002c0002t0006g0163 a0002c0002t0006g0190 a0002c0002t0006g0191 a0002c0002t0006g0192 a0002c0002t0006g0197 a0002c0002t0009g0183 a0002c0004t0002g0027 a0002c0004t0002g0028 a0002c0004t0002g0050 a0002c0004t0002g0086 a0002c0004t0002g0278 a0002c0004t0002g0279 a0002c0004t0002g0280 a0002c0004t0002g0281 a0002c0004t0002g0282 a0002c0004t0002g0284 a0002c0004t0002g0285 a0002c0004t0002g0286 a0002c0004t0002g0287 a0002c0004t0002g0288 a0002c0004t0002g0289 a0002c0004t0002g0290 a0002c0004t0002g0291 a0002c0004t0002g0292 a0002c0004t0002g0293 a0002c0008t0002g0127 a0002c0008t0002g0128 a0002c0008t0002g0129 a0002c0008t0002g0130 a0002c0008t0002g0131 a0002c0008t0002g0132 a0002c0008t0002g0133 a0002c0008t0002g0134 a0002c0008t0002g0135 a0002c0008t0002g0136 a0002c0008t0002g0137 a0002c0015t0002g0140 a0002c0015t0002g0141 a0002c0025t0002g0164 a0003c0005t0003g0030 a0003c0005t0003g0258 a0003c0005t0003g0259 a0003c0005t0003g0260 a0003c0005t0003g0261 a0003c0005t0003g0262 a0003c0005t0003g0265 a0003c0005t0003g0266 a0003c0005t0003g0274 a0003c0005t0003g0277 a0003c0005t0003g0321 a0003c0005t0003g0322 a0003c0005t0007g0007 a0003c0005t0007g0225 a0003c0005t0007g0226 a0003c0005t0010g0257 a0004c0003t0004g0009 a0004c0003t0004g0011 a0004c0003t0004g0031 a0004c0003t0004g0032 a0004c0003t0004g0033 a0004c0003t0004g0038 a0004c0003t0004g0039 a0004c0003t0004g0041 a0004c0003t0004g0042 a0004c0003t0004g0043 a0004c0003t0004g0044 a0004c0003t0005g0003 a0004c0003t0005g0008 a0004c0003t0005g0034 a0004c0003t0005g0035 a0004c0003t0005g0036 a0004c0003t0005g0037 a0005c0007t0002g0005 a0005c0007t0002g0055 a0005c0007t0002g0295 a0005c0007t0002g0296 a0005c0007t0002g0297 a0005c0007t0002g0298 a0005c0007t0002g0299 a0005c0007t0002g0301 a0005c0007t0002g0302 a0006c0009t0001g0059 a0006c0009t0001g0114 a0006c0009t0001g0115 a0006c0009t0001g0116 a0006c0009t0001g0117 a0006c0009t0001g0118 a0006c0009t0001g0123 a0007c0013t0001g0119 a0007c0013t0001g0120 a0007c0013t0001g0121 a0007c0013t0001g0122 a0008c0012t0008g0010 a0008c0012t0008g0046 a0008c0012t0008g0047 a0009c0014t0001g0048 a0009c0014t0001g0049 a0010c0031t0001g0256 a0011c0028t0001g0058 a0012c0022t0002g0145 a0013c0026t0002g0179 a0014c0024t0002g0178 a0015c0023t0002g0142 a0016c0021t0002g0308 a0017c0030t0002g0300 a0018c0020t0002g0146 a0019c0018t0004g0045 a0020c0017t0001g0040	355	370	0.9595	-1	c.116 others(7): Show c.1162-4delT		GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16					chr14	TogoVar
GALE_chr1_23790599_23805754	23796144	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18962.hp2 NA19007.hp1 NA19075.hp2 NA18962.hp2 NA19007.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	3	410	0.0073	0	c.988 others(5): Show c.988+7G>A		GALE	ENSG00000117308.15	transcript	ENST00000617979.5	protein_coding	11/11					chr1	TogoVar
GALE_chr1_23790599_23805754	23799367	T T	C C	splice_region_variant splice_region_variant	LOW	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	410	0.0024	0	c.-7A others(2): Show c.-7A>G		GALE	ENSG00000117308.15	transcript	ENST00000617979.5	protein_coding	2/12					chr1	TogoVar
GALE_chr1_23790599_23805754	23799440	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	410	0.0024	0	c.-76 others(5): Show c.-76-4C>A		GALE	ENSG00000117308.15	transcript	ENST00000617979.5	protein_coding	1/11					chr1	TogoVar
GALK1_chr17_75752894_75770192	75758205	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	452	0.0022	0	c.110 others(6): Show c.1107+5G>A		GALK1	ENSG00000108479.13	transcript	ENST00000588479.6	protein_coding	7/7					chr17	TogoVar
GALM_chr2_38661114_38739765	38676074	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	328	0.0031	0	c.345 others(5): Show c.345+8C>T		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	2/6					chr2	TogoVar
GALM_chr2_38661114_38739765	38733476	T T	TC TC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp1 HG01891.hp1 HG02723.hp2 others(3): Show HG01106.hp1 HG01891.hp1 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 others(2): Show a0001c0001t0003 a0001c0001t0019 a0001c0001t0032 a0002c0002t0012 a0002c0002t0013	a0001c0001t0003g0310 a0001c0001t0019g0202 a0001c0001t0019g0309 others(3): Show a0001c0001t0003g0310 a0001c0001t0019g0202 a0001c0001t0019g0309 a0001c0001t0032g0324 a0002c0002t0012g0326 a0002c0002t0013g0209	6	328	0.0183	1	c.952 others(6): Show c.952-8dupC		GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	6/6				INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88832105	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02886.hp1 HG03453.hp1 others(1): Show HG02258.hp1 HG02886.hp1 HG03453.hp1 HG03516.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0006 a0003c0006t0001 a0003c0006t0006	a0003c0006t0001g0022 a0003c0006t0006g0393 a0003c0006t0006g0396 others(1): Show a0003c0006t0001g0022 a0003c0006t0006g0393 a0003c0006t0006g0396 a0003c0006t0006g0397	4	404	0.0099	0	c.899 others(5): Show c.899-4C>G		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13					chr16	TogoVar
GALNS_chr16_88808734_88861947	88837617	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG02027.hp2 HG02074.hp1 others(2): Show HG00597.hp2 HG02027.hp2 HG02074.hp1 NA18946.hp2 NA19089.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0011c0019 a0001c0002 a0011c0019	a0001c0002t0002 a0011c0019t0002 a0001c0002t0002 a0011c0019t0002	a0001c0002t0002g0036 a0001c0002t0002g0058 a0001c0002t0002g0079 others(2): Show a0001c0002t0002g0036 a0001c0002t0002g0058 a0001c0002t0002g0079 a0001c0002t0002g0082 a0011c0019t0002g0086	5	404	0.0124	0	c.566 others(5): Show c.566+5T>C		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	5/13					chr16	TogoVar
GALNS_chr16_88808734_88861947	88841898	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00738.hp1 HG01433.hp1 HG00738.hp1 HG01433.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0041 a0001c0018t0002g0095 a0001c0018t0002g0041 a0001c0018t0002g0095	2	404	0.0050	0	c.318 others(3): Show c.318C>T	p.Asn others(6): Show p.Asn106Asn	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	3/14	388/2344	318/1569	106/522		chr16	TogoVar
GALNT10_chr5_154185733_154425984	154191033	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	236	0.0042	0	c.159 others(5): Show c.159+8C>T		GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11					chr5	TogoVar
GALNT11_chr7_152020674_152127340	152105247	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18942.hp1 NA18951.hp1 NA18990.hp1 others(5): Show NA18942.hp1 NA18951.hp1 NA18990.hp1 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19058.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0099 a0002c0002t0001g0164 a0002c0002t0001g0208 others(5): Show a0002c0002t0001g0099 a0002c0002t0001g0164 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0243 a0002c0002t0001g0245	8	284	0.0282	0	c.589 others(3): Show c.589G>T	p.Asp others(6): Show p.Asp197Tyr	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	5/12	838/2739	589/1827	197/608		chr7	TogoVar
GALNT12_chr9_98802670_98855081	98823249	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp2 HG01943.hp1 others(9): Show HG00438.hp1 HG00558.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp2 NA18946.hp2 NA18948.hp2 NA18975.hp1 NA19007.hp2 NA19011.hp2 NA19077.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0017t0003	a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 others(9): Show a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0003g0291 a0001c0001t0003g0293 a0001c0001t0005g0294 a0001c0002t0002g0263 a0001c0017t0003g0295	12	376	0.0319	0	c.372 others(5): Show c.372-7T>A		GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding	1/9					chr9	TogoVar
GALNT12_chr9_98802670_98855081	98846127	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG03195.hp1 HG03540.hp1 HG02615.hp2 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0019 a0001c0001 a0001c0004 a0001c0019	a0001c0001t0006 a0001c0004t0006 a0001c0019t0006 a0001c0001t0006 a0001c0004t0006 a0001c0019t0006	a0001c0001t0006g0083 a0001c0004t0006g0015 a0001c0019t0006g0015 a0001c0001t0006g0083 a0001c0004t0006g0015 a0001c0019t0006g0015	3	376	0.0080	0	c.160 others(6): Show c.1605+4G>A		GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding	9/9					chr9	TogoVar
GALNT14_chr2_30905467_31143440	30993007	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01258.hp1 HG01258.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0002 a0006c0016t0002	a0006c0016t0002g0205 a0006c0016t0002g0205	1	226	0.0044	0	c.130 others(3): Show c.130C>G	p.Pro others(5): Show p.Pro44Ala	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/15	484/2447	130/1659	44/552		chr2	TogoVar
GALNT15_chr3_16169680_16235165	16195934	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0097 a0001c0002t0003g0097	1	388	0.0026	0	c.706 others(5): Show c.706+8C>A		GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	2/9					chr3	TogoVar
GALNT15_chr3_16169680_16235165	16230164	C C	T T	splice_region_variant splice_region_variant	LOW	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0027 a0001c0022t0027	a0001c0022t0027g0038 a0001c0022t0027g0038	1	388	0.0026	0	c.26 others(5): Show c.2664C>T		GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	10/10					chr3	TogoVar
GALNT16_chr14_69255158_69359466	69320872	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	306	0.0033	0	c.335 others(5): Show c.335+4C>T		GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	2/14					chr14	TogoVar
GALNT16_chr14_69255158_69359466	69328451	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0008 a0007c0019t0008	a0007c0019t0008g0153 a0007c0019t0008g0153	1	306	0.0033	0	c.570 others(3): Show c.570G>A	p.Gly others(6): Show p.Gly190Gly	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	6/15	703/4108	570/1677	190/558		chr14	TogoVar
GALNT16_chr14_69255158_69359466	69328579	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0008 a0007c0019t0008	a0007c0019t0008g0153 a0007c0019t0008g0153	1	306	0.0033	0	c.690 others(5): Show c.690+8A>G		GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	6/14					chr14	TogoVar
GALNT16_chr14_69255158_69359466	69333175	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(165): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18954.hp1 NA18957.hp1 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19068.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(9): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0015 a0001c0016 a0002c0002 a0002c0011 a0003c0004 a0007c0019 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0022 a0001c0003t0023 a0001c0005t0006 a0001c0007t0001 a0001c0009t0001 a0001c0015t0003 a0001c0016t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0011t0002 a0003c0004t0001 a0003c0004t0002 a0003c0004t0009 a0003c0004t0011 a0007c0019t0008 a0008c0012t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 others(165): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0146 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0231 a0001c0001t0001g0250 a0001c0001t0001g0280 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0028 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0096 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0181 a0001c0001t0002g0197 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0003g0037 a0001c0001t0003g0163 a0001c0001t0003g0227 a0001c0001t0003g0238 a0001c0001t0003g0281 a0001c0001t0004g0274 a0001c0001t0007g0044 a0001c0001t0007g0142 a0001c0001t0007g0279 a0001c0001t0007g0282 a0001c0001t0008g0094 a0001c0001t0008g0130 a0001c0001t0008g0240 a0001c0001t0010g0023 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0001t0012g0022 a0001c0001t0013g0008 a0001c0001t0014g0287 a0001c0001t0016g0228 a0001c0001t0017g0247 a0001c0001t0027g0077 a0001c0001t0028g0111 a0001c0003t0001g0050 a0001c0003t0001g0056 a0001c0003t0001g0061 a0001c0003t0001g0067 a0001c0003t0001g0105 a0001c0003t0001g0154 a0001c0003t0001g0165 a0001c0003t0001g0169 a0001c0003t0001g0212 a0001c0003t0001g0216 a0001c0003t0001g0219 a0001c0003t0001g0230 a0001c0003t0001g0246 a0001c0003t0001g0260 a0001c0003t0001g0297 a0001c0003t0002g0071 a0001c0003t0002g0110 a0001c0003t0002g0253 a0001c0003t0003g0029 a0001c0003t0003g0031 a0001c0003t0003g0098 a0001c0003t0003g0103 a0001c0003t0003g0115 a0001c0003t0003g0119 a0001c0003t0003g0124 a0001c0003t0003g0159 a0001c0003t0003g0199 a0001c0003t0003g0224 a0001c0003t0003g0226 a0001c0003t0022g0066 a0001c0003t0023g0021 a0001c0005t0006g0177 a0001c0007t0001g0254 a0001c0009t0001g0065 a0001c0009t0001g0283 a0001c0015t0003g0289 a0001c0016t0006g0156 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0062 a0002c0002t0001g0069 a0002c0002t0001g0088 a0002c0002t0001g0100 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0113 a0002c0002t0001g0138 a0002c0002t0001g0158 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0239 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0293 a0002c0002t0001g0296 a0002c0002t0001g0299 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0002g0014 a0002c0002t0002g0038 a0002c0002t0002g0106 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0200 a0002c0002t0002g0234 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0002g0294 a0002c0002t0002g0301 a0002c0002t0003g0215 a0002c0002t0003g0262 a0002c0002t0004g0267 a0002c0002t0004g0268 a0002c0002t0011g0020 a0002c0011t0002g0261 a0003c0004t0001g0007 a0003c0004t0001g0010 a0003c0004t0001g0013 a0003c0004t0001g0039 a0003c0004t0001g0040 a0003c0004t0001g0139 a0003c0004t0001g0145 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0207 a0003c0004t0001g0218 a0003c0004t0001g0273 a0003c0004t0001g0292 a0003c0004t0002g0027 a0003c0004t0002g0204 a0003c0004t0002g0291 a0003c0004t0009g0147 a0003c0004t0009g0150 a0003c0004t0009g0151 a0003c0004t0009g0214 a0003c0004t0011g0024 a0007c0019t0008g0153 a0008c0012t0001g0121	168	306	0.5490	0	c.863 others(5): Show c.863+6A>G		GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	8/14					chr14	TogoVar
GALNT17_chr7_71127144_71718599	71415881	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00738.hp2 HG02896.hp1 others(3): Show HG00642.hp1 HG00738.hp2 HG02896.hp1 HG03704.hp2 HG03710.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008	a0001c0001t0005g0054 a0001c0002t0002g0020 a0001c0002t0003g0004 others(3): Show a0001c0001t0005g0054 a0001c0002t0002g0020 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0007g0060 a0001c0002t0008g0025	6	76	0.0790	0	c.590 others(5): Show c.590-8A>G		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	3/10					chr7	TogoVar
GALNT18_chr11_11265877_11627005	11377178	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(12): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00597.hp2 HG01070.hp1 HG02129.hp2 HG03492.hp2 NA18942.hp1 NA18946.hp2 NA18955.hp1 NA18968.hp1 NA18974.hp1 NA19057.hp1 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0003 a0001c0004t0006 a0001c0014t0003	a0001c0001t0001g0240 a0001c0001t0002g0014 a0001c0001t0002g0055 others(12): Show a0001c0001t0001g0240 a0001c0001t0002g0014 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0087 a0001c0002t0004g0059 a0001c0003t0001g0142 a0001c0003t0001g0171 a0001c0003t0002g0072 a0001c0004t0001g0161 a0001c0004t0003g0217 a0001c0004t0006g0131 a0001c0014t0003g0122	15	260	0.0577	0	c.977 others(5): Show c.977+4A>G		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	5/10					chr11	TogoVar
GALNT1_chr18_35576740_35716834	35654556	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	310	0.0032	0	c.-10 others(6): Show c.-103-4A>G		GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	1/11					chr18	TogoVar
GALNT1_chr18_35576740_35716834	35702878	A A	ATTATTTA others(6): Show ATTATTTATTGTCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG01891.hp1 HG02258.hp2 others(2): Show HG01884.hp2 HG01891.hp1 HG02258.hp2 HG03098.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0001 a0001c0001t0013 a0001c0004t0001	a0001c0001t0013g0167 a0001c0001t0013g0169 a0001c0004t0001g0129 others(2): Show a0001c0001t0013g0167 a0001c0001t0013g0169 a0001c0004t0001g0129 a0001c0004t0001g0130 a0001c0004t0001g0168	5	310	0.0161	13	c.130 others(27): Show c.1300-18_1300-6dupTTATTTATTGTCC		GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	9/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230255210	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02622.hp1 HG02717.hp2 others(7): Show HG02486.hp1 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0004 a0001c0003t0011 a0001c0003t0018 others(1): Show a0001c0003t0004 a0001c0003t0011 a0001c0003t0018 a0001c0010t0011	a0001c0003t0004g0259 a0001c0003t0011g0200 a0001c0003t0011g0255 others(7): Show a0001c0003t0004g0259 a0001c0003t0011g0200 a0001c0003t0011g0255 a0001c0003t0011g0289 a0001c0003t0011g0290 a0001c0003t0011g0291 a0001c0003t0011g0307 a0001c0003t0018g0288 a0001c0003t0018g0306 a0001c0010t0011g0299	10	324	0.0309	0	c.101 others(6): Show c.1010-8C>T		GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	10/15					chr1	TogoVar
GALNT6_chr12_51346252_51396406	51355799	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp2 NA19030.hp2 NA19043.hp1 HG03139.hp2 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0065 a0001c0001t0033 a0001c0001t0065	a0001c0001t0033g0207 a0001c0001t0033g0320 a0001c0001t0065g0057 a0001c0001t0033g0207 a0001c0001t0033g0320 a0001c0001t0065g0057	3	428	0.0070	0	c.175 others(6): Show c.1755+7C>T		GALNT6	ENSG00000139629.16	transcript	ENST00000356317.8	protein_coding	11/11					chr12	TogoVar

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