JoGo: Joint Open Genome and Omics Platform

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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FOXQ1_chr6_1307098_1319758	1316945	A A	ACCCCCCT others(38): Show ACCCCCCTCCCGCCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA19064.hp1 NA18941.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	406	0.0049	45	c.30 others(56): Show c.3029_*3030insCCCCCCTCCCGCCCCCCCCTCCAGCCTACCCCTC CCCCCGCCCAC	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2188		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1316956	G G	GCCCCCCC others(38): Show GCCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCACCCCCCTCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0000 a0006c0008t0002g0000	1	406	0.0025	45	c.30 others(56): Show c.3040_*3041insCCCCCCCTCCAGCCTACCCCTCCCCCCCGCCCAC CCCCCTCCCGC	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2199		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1316956	G G	GCCCCCCC others(38): Show GCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACCCCCCTCCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02630.hp2 others(2): Show HG02258.hp1 HG02258.hp2 HG02630.hp2 HG02965.hp1 HG03486.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0022 a0006c0008t0002 a0006c0008t0022	a0006c0008t0002g0000 a0006c0008t0022g0000 a0006c0008t0002g0000 a0006c0008t0022g0000	5	406	0.0123	45	c.30 others(56): Show c.3040_*3041insCCCCCCCTCCAGCCTACCCCTCCCCCCGCCCACC CCCCTCCCGCC	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2199		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1316970	C C	CTACCCCT others(38): Show CTACCCCTCCCCCCGCCCACCCCCCTCCCGCCCCCCCCTCCAGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	45	c.30 others(56): Show c.3054_*3055insTACCCCTCCCCCCGCCCACCCCCCTCCCGCCCCC CCCTCCAGCCG	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2213		chr6	TogoVar
FOXQ1_chr6_1307098_1319758	1317079	C C	CCCTCCTC others(38): Show CCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCCCCACACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0000 a0002c0004t0001g0000	1	406	0.0025	45	c.31 others(56): Show c.3163_*3164insCCTCCTCCCGCCCCCCCTCCAGCCTACCCCTCCC CCACACCCATT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2322		chr6	TogoVar
FREM1_chr9_14732152_14915428	14778681	G G	GAGGGAAG others(38): Show GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG01516.hp1 others(11): Show HG00099.hp2 HG01255.hp1 HG01516.hp1 HG02300.hp2 HG03239.hp2 HG03710.hp2 NA18942.hp1 NA18944.hp1 NA18953.hp1 NA18967.hp2 NA18983.hp2 NA19060.hp1 NA19086.hp1 NA19091.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0007 a0021 a0022 a0027 a0057 a0058 a0077 a0092	a0002c0001 a0002c0021 a0002c0023 others(11): Show a0002c0001 a0002c0021 a0002c0023 a0003c0007 a0004c0004 a0004c0015 a0007c0100 a0021c0043 a0022c0051 a0027c0034 a0057c0091 a0058c0077 a0077c0127 a0092c0054	a0002c0001t0002 a0002c0021t0001 a0002c0023t0002 others(11): Show a0002c0001t0002 a0002c0021t0001 a0002c0023t0002 a0003c0007t0001 a0004c0004t0001 a0004c0015t0001 a0007c0100t0001 a0021c0043t0001 a0022c0051t0002 a0027c0034t0001 a0057c0091t0001 a0058c0077t0001 a0077c0127t0001 a0092c0054t0001	a0002c0001t0002g0030 a0002c0021t0001g0138 a0002c0023t0002g0256 others(11): Show a0002c0001t0002g0030 a0002c0021t0001g0138 a0002c0023t0002g0256 a0003c0007t0001g0134 a0004c0004t0001g0071 a0004c0015t0001g0162 a0007c0100t0001g0015 a0021c0043t0001g0027 a0022c0051t0002g0331 a0027c0034t0001g0182 a0057c0091t0001g0236 a0058c0077t0001g0152 a0077c0127t0001g0294 a0092c0054t0001g0197	14	346	0.0405	45	c.444 others(64): Show c.4443-2523_4443-2479dupTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCT	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	24/36			chr9	TogoVar
FRG2C_chr3_75659328_75672173	75660959	T T	TGTTACAT others(38): Show TGTTACATCTGCTTTTGAGATCTTAGTAATAAATTCTTTGTTCAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0016 a0009c0008t0016	a0009c0008t0016g0017 a0009c0008t0016g0017	1	410	0.0024	45	c.-34 others(56): Show c.-3421_-3420insGTTACATCTGCTTTTGAGATCTTAGTAATAAATT CTTTGTTCAAG	FRG2C	ENSG00000172969.8	transcript	ENST00000308062.8	protein_coding		3368		chr3	TogoVar
FRMD3_chr9_83239622_83543401	83407845	C C	CTCTCTCT others(38): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0001 a0001c0001t0035g0001	1	242	0.0041	45	c.148 others(64): Show c.148-18138_148-18137insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83407847	C C	CTCTCTCT others(38): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0017 a0002c0003t0017	a0002c0003t0017g0063 a0002c0003t0017g0063	1	242	0.0041	45	c.148 others(64): Show c.148-18140_148-18139insAAGATGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD3_chr9_83239622_83543401	83407873	C C	CTCTCTCT others(38): Show CTCTCTCTCATCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCATCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0153 a0001c0001t0015g0153	1	242	0.0041	45	c.148 others(64): Show c.148-18166_148-18165insAGATGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGATGAGAGAGA	FRMD3	ENSG00000172159.16	transcript	ENST00000304195.8	protein_coding	1/13			chr9	TogoVar
FRMD4A_chr10_13638706_14335924	13714019	A A	AATATACA others(38): Show AATATACATATATAAAATATACATATATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	134	0.0075	45	c.760 others(62): Show c.760-6907_760-6906insATATAATATATATTTTATATATATGTAT ATTTTATATATGTATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMD4A_chr10_13638706_14335924	13714019	A A	AATATACA others(38): Show AATATACATATATAAAATATACATATATATAAAATATATATTTTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01123.hp1 HG03942.hp2 HG00099.hp2 HG01123.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0001t0021 a0001c0009t0002 a0001c0001t0008 a0001c0001t0021 a0001c0009t0002	a0001c0001t0008g0102 a0001c0001t0021g0059 a0001c0009t0002g0006 a0001c0001t0008g0102 a0001c0001t0021g0059 a0001c0009t0002g0006	3	134	0.0224	45	c.760 others(62): Show c.760-6907_760-6906insATAAAATATATATTTTATATATATGTAT ATTTTATATATGTATAT	FRMD4A	ENSG00000151474.23	transcript	ENST00000357447.7	protein_coding	12/24			chr10	TogoVar
FRMPD4_chrX_12133473_12729523	12382530	G G	GCATAGAG others(38): Show GCATAGAGCATAGCATAGCATAGCATAGCATAGCATAGCATAGCAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0174 a0001c0001t0006g0174	1	174	0.0058	45	c.42- others(64): Show c.42-116150_42-116149insCATAGAGCATAGCATAGCATAGCATA GCATAGCATAGCATAGCAT	FRMPD4	ENSG00000169933.17	transcript	ENST00000675598.1	protein_coding	1/16			chrX	TogoVar
FSTL5_chr4_161378897_162169000	162153759	T T	TATGTATA others(38): Show TATGTATATATGTATATACATATATATGTATACATATATATGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(49): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00642.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG04228.hp2 NA18612.hp2 NA18945.hp1 NA18948.hp1 NA18968.hp1 NA18979.hp1 NA18990.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19079.hp1 NA19080.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012 a0002c0004 a0003c0005 a0003c0014 a0004c0006 a0005c0011 a0006c0008	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0003t0001 a0001c0012t0001 a0002c0004t0001 a0003c0005t0005 a0003c0014t0005 a0004c0006t0001 a0005c0011t0001 a0006c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 others(49): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0007g0059 a0001c0001t0012g0036 a0001c0001t0013g0076 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0003t0001g0026 a0001c0003t0001g0032 a0001c0003t0001g0041 a0001c0012t0001g0071 a0002c0004t0001g0034 a0002c0004t0001g0066 a0002c0004t0001g0072 a0002c0004t0001g0074 a0003c0005t0005g0051 a0003c0005t0005g0054 a0003c0005t0005g0077 a0003c0005t0005g0078 a0003c0014t0005g0065 a0004c0006t0001g0040 a0004c0006t0001g0079 a0005c0011t0001g0027 a0006c0008t0001g0030	52	142	0.3662	45	c.-17 others(62): Show c.-17+9855_-17+9856insTATACATATATATGTATACATATATATG TATATACATATATACAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FSTL5_chr4_161378897_162169000	162153759	T T	TATGTATA others(38): Show TATGTATATATGTATATACATATATATGTATACGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03225.hp2 HG02895.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0021 a0001c0001t0007g0020 a0001c0001t0001g0021 a0001c0001t0007g0020	2	142	0.0141	45	c.-17 others(62): Show c.-17+9855_-17+9856insTATACATATATACGTATACATATATATG TATATACATATATACAT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	1/15			chr4	TogoVar
FUCA1_chr1_23840077_23873290	23869244	A A	AAGGAAGG others(38): Show AAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	380	0.0026	45	c.-95 others(54): Show c.-959_-958insCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTCC TTCCTTCCT	FUCA1	ENSG00000179163.12	transcript	ENST00000374479.4	protein_coding		955		chr1	TogoVar
FUT8_chr14_65407730_65749121	65474441	G G	GAAAAAAA others(38): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18955.hp1 HG02080.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0267 a0001c0001t0003g0273	2	374	0.0054	45	c.-22 others(66): Show c.-228+18739_-228+18740insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
FXN_chr9_69030752_69084076	69037284	A A	AAAGAAGA others(38): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0367 a0001c0001t0049g0367	1	432	0.0023	45	c.165 others(62): Show c.165+1357_165+1358insGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAA	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAB2_chr11_78210293_78422820	78407658	T T	TAAGAAAG others(38): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGCAGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp2 HG00735.hp1 others(16): Show HG00558.hp1 HG00642.hp2 HG00735.hp1 HG01081.hp2 HG01123.hp2 HG01256.hp2 HG01346.hp1 HG02027.hp1 HG02135.hp1 HG02293.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA19057.hp2 NA19065.hp2 NA19087.hp1 NA19090.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0007 a0005c0011 a0001c0002 a0003c0007 a0005c0011	a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 others(3): Show a0001c0002t0002 a0001c0002t0011 a0001c0002t0017 a0001c0002t0018 a0003c0007t0002 a0005c0011t0002	a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0037 others(16): Show a0001c0002t0002g0022 a0001c0002t0002g0025 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0074 a0001c0002t0011g0006 a0001c0002t0011g0007 a0001c0002t0017g0078 a0001c0002t0018g0032 a0001c0002t0018g0056 a0003c0007t0002g0034 a0003c0007t0002g0035 a0003c0007t0002g0036 a0003c0007t0002g0038 a0005c0011t0002g0005	19	288	0.0660	45	c.75+ others(60): Show c.75+9987_75+9988insTCTGCCATCTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407659	A A	AAGAAAGA others(38): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0002t0035 a0001c0001t0033 a0001c0002t0035	a0001c0001t0033g0080 a0001c0002t0035g0081 a0001c0001t0033g0080 a0001c0002t0035g0081	2	288	0.0069	45	c.75+ others(60): Show c.75+9986_75+9987insGCCATCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB2_chr11_78210293_78422820	78407667	A A	AAGAAAGA others(38): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGATGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0126 a0001c0002t0021g0126	1	288	0.0035	45	c.75+ others(60): Show c.75+9978_75+9979insGCCATCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABRG3_chr15_26966181_27546984	27307123	A A	AGGTTTAT others(38): Show AGGTTTATATATGTTTATATATAACCATAGGTTTATATATGTTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02809.hp2 HG06807.hp1 others(2): Show HG02145.hp2 HG02809.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0032 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0032 a0001c0005t0005 a0001c0008t0008	a0001c0001t0001g0038 a0001c0003t0001g0066 a0001c0003t0032g0040 others(2): Show a0001c0001t0001g0038 a0001c0003t0001g0066 a0001c0003t0032g0040 a0001c0005t0005g0037 a0001c0008t0008g0001	5	92	0.0544	45	c.271 others(64): Show c.271-19686_271-19685insGGTTTATATATGTTTATATATAACCA TAGGTTTATATATGTTTAT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GAD2_chr10_26211774_26309558	26303448	G G	GAGGGAGG others(38): Show GAGGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAAGGAAGGAAATGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0059 a0001c0001t0014g0105 a0001c0001t0014g0059 a0001c0001t0014g0105	2	294	0.0068	45	c.24 others(56): Show c.2498_*2499insAAGGGAAGGAGGGAGGGAGGAAGGAAGGAAATGA AGGGAGGGAGG	GAD2	ENSG00000136750.13	transcript	ENST00000376261.8	protein_coding	16/16	2499	INFO_REALIGN_3_PRIME	chr10	TogoVar
GADL1_chr3_30721197_30899661	30769940	A A	AGAATTAC others(38): Show AGAATTACAAGCTAAAAGCCTGAAGGCCAGATCCCACTGGCAAATG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	282	0.0036	45	c.139 others(64): Show c.1392+8238_1392+8239insCATTTGCCAGTGGGATCTGGCCTTCA GGCTTTTAGCTTGTAATTC	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30769941	G G	GAATTACA others(38): Show GAATTACAAGCTAAAAGCCTGAAGGCCAGATCCCACTGACAAATGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00639.hp2 others(70): Show HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02300.hp2 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02818.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0011c0013t0014	a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0263 others(70): Show a0001c0001t0001g0050 a0001c0001t0001g0131 a0001c0001t0001g0263 a0001c0001t0002g0020 a0001c0001t0002g0055 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0111 a0001c0001t0002g0122 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0211 a0001c0001t0002g0219 a0001c0001t0002g0233 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0277 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0051 a0001c0001t0003g0063 a0001c0001t0003g0085 a0001c0001t0003g0231 a0001c0001t0003g0234 a0001c0001t0003g0262 a0001c0001t0003g0271 a0001c0001t0003g0275 a0001c0001t0006g0016 a0001c0001t0006g0053 a0001c0001t0006g0066 a0001c0001t0006g0097 a0001c0001t0006g0124 a0001c0001t0006g0133 a0001c0001t0006g0135 a0001c0001t0006g0204 a0001c0001t0006g0244 a0001c0001t0006g0257 a0001c0001t0007g0077 a0001c0001t0007g0225 a0001c0001t0009g0274 a0001c0001t0010g0146 a0001c0001t0010g0148 a0001c0001t0012g0166 a0001c0001t0012g0167 a0001c0001t0015g0033 a0001c0001t0015g0040 a0001c0001t0018g0079 a0001c0001t0019g0156 a0001c0001t0021g0012 a0001c0001t0023g0247 a0001c0001t0024g0206 a0001c0001t0028g0175 a0001c0001t0030g0003 a0001c0001t0035g0141 a0011c0013t0014g0013	73	282	0.2589	45	c.139 others(64): Show c.1392+8237_1392+8238insACATTTGTCAGTGGGATCTGGCCTTC AGGCTTTTAGCTTGTAATT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30769941	G G	GAATTACA others(38): Show GAATTACAAGCTAAAAGCCTGAAGGCCAGATCCCACTGGCAAATGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01243.hp2 others(79): Show HG00544.hp1 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18951.hp2 NA18970.hp1 NA18984.hp2 NA18986.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19062.hp2 NA19068.hp1 NA19077.hp1 NA19085.hp2 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0001 a0001c0008 a0001c0010 others(6): Show a0001c0001 a0001c0008 a0001c0010 a0002c0002 a0003c0004 a0004c0003 a0005c0005 a0008c0011 a0010c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0008t0029 a0001c0010t0011 a0002c0002t0003 a0003c0004t0001 a0004c0003t0005 a0005c0005t0027 a0008c0011t0003 a0010c0006t0040	a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0104 others(79): Show a0001c0001t0001g0043 a0001c0001t0001g0068 a0001c0001t0001g0104 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0242 a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0002g0074 a0001c0001t0002g0127 a0001c0001t0002g0203 a0001c0001t0002g0215 a0001c0001t0002g0256 a0001c0001t0003g0036 a0001c0001t0003g0060 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0078 a0001c0001t0003g0103 a0001c0001t0003g0120 a0001c0001t0003g0136 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0208 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0106 a0001c0001t0004g0110 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0004g0123 a0001c0001t0004g0132 a0001c0001t0004g0154 a0001c0001t0004g0178 a0001c0001t0004g0191 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0005g0183 a0001c0001t0005g0190 a0001c0001t0005g0197 a0001c0001t0005g0202 a0001c0001t0005g0217 a0001c0001t0005g0222 a0001c0001t0005g0226 a0001c0001t0008g0101 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0013g0185 a0001c0001t0013g0186 a0001c0001t0014g0015 a0001c0001t0016g0279 a0001c0001t0016g0280 a0001c0001t0017g0001 a0001c0001t0022g0240 a0001c0001t0026g0245 a0001c0001t0031g0108 a0001c0001t0033g0065 a0001c0001t0034g0213 a0001c0001t0036g0100 a0001c0001t0037g0021 a0001c0001t0038g0112 a0001c0008t0029g0059 a0001c0010t0011g0105 a0002c0002t0003g0114 a0002c0002t0003g0216 a0002c0002t0003g0218 a0003c0004t0001g0010 a0003c0004t0001g0098 a0004c0003t0005g0008 a0004c0003t0005g0118 a0005c0005t0027g0002 a0008c0011t0003g0269 a0010c0006t0040g0282	82	282	0.2908	45	c.139 others(64): Show c.1392+8237_1392+8238insACATTTGCCAGTGGGATCTGGCCTTC AGGCTTTTAGCTTGTAATT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14			chr3	TogoVar
GALM_chr2_38661114_38739765	38686223	T T	TCCTTCCT others(38): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	328	0.0031	45	c.553 others(62): Show c.553-3589_553-3588insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38686227	T T	TCCTTCCT others(38): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02145.hp2 others(8): Show HG01168.hp2 HG01169.hp2 HG02145.hp2 HG02647.hp2 HG02717.hp1 NA18946.hp2 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0155 others(8): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0145 a0001c0001t0006g0173	11	328	0.0335	45	c.553 others(62): Show c.553-3585_553-3584insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCC	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(38): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	214	0.0047	45	c.142 others(64): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT18_chr11_11265877_11627005	11400746	C C	CTTTGATG others(38): Show CTTTGATGTCACCAGGAAAATCTGTGCTGTCCCCAGGTTAATCTTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0221 a0001c0004t0001g0221	1	260	0.0039	45	c.596 others(64): Show c.596-21527_596-21483dupCAAGATTAACCTGGGGACAGCACAGA TTTTCCTGGTGACATCAAA	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	3/10			chr11	TogoVar
GALNT9_chr12_132191372_132334589	132231550	C C	CACACACT others(38): Show CACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	183	0.0055	45	c.107 others(66): Show c.1077+16359_1077+16360insAGCACTAGGGGCTCCACGCTGTCC CTGTCACCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232792	C C	CACACACT others(38): Show CACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	183	0.0055	45	c.107 others(66): Show c.1077+15117_1077+15118insAGCACTAGGGGCTCCACGCTGTCC CTGTCACCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132232936	C C	CACACACT others(38): Show CACACACTCGATGGGGTGACAGGGACAGCGTGGAGCCCCTAGTGCT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19012.hp1 NA19063.hp1 NA19007.hp1 NA19012.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0161 a0001c0001t0008g0003 a0001c0002t0001g0134 a0001c0001t0001g0161 a0001c0001t0008g0003 a0001c0002t0001g0134	3	183	0.0164	45	c.107 others(66): Show c.1077+14973_1077+14974insAGCACTAGGGGCTCCACGCTGTCC CTGTCACCCCATCGAGTGTGT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233344	A A	AGACAGCG others(38): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0003 a0001c0001t0008g0003	1	183	0.0055	45	c.107 others(66): Show c.1077+14565_1077+14566insCCTGTCACCCCATCGAGTGTGTGG CACTAGGGACTCCACGCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233536	A A	AGACAGCG others(38): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGTGACAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	183	0.0055	45	c.107 others(66): Show c.1077+14373_1077+14374insCCTGTCACCCCATCGAGTGTGTGG CACTAGGGACTCCACGCTGTC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240869	G G	GTCCCTAT others(38): Show GTCCCTATACCCATTACACACACAACACGCCCCCTTCCCGGGGCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0067 a0001c0015t0001g0067	1	183	0.0055	45	c.107 others(64): Show c.1077+7040_1077+7041insGGGCCCCGGGAAGGGGGCGTGTTGTG TGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240922	C C	CCCCATTA others(38): Show CCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	183	0.0055	45	c.107 others(64): Show c.1077+6943_1077+6987dupTATAGGGAGGGCCCCGGGAAGGGGGT GTGGCGTGTGTGTAATGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132240952	C C	CGGGGCCC others(38): Show CGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03834.hp1 HG00423.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0001 a0001c0027t0001 a0001c0001t0001 a0001c0027t0001	a0001c0001t0001g0164 a0001c0027t0001g0082 a0001c0001t0001g0164 a0001c0027t0001g0082	2	183	0.0109	45	c.107 others(64): Show c.1077+6957_1077+6958insTGGAAGGGTGTGTGTTGTGTGTGTAA TGGGTATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241042	A A	AGGGGCCC others(38): Show AGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01106.hp1 others(47): Show HG00423.hp1 HG00609.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp1 HG01978.hp1 HG02055.hp2 HG02080.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02698.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA19091.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0035 a0001c0036 a0004c0024 a0006c0037	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0010t0001 a0001c0012t0002 a0001c0035t0009 a0001c0036t0003 a0004c0024t0001 a0006c0037t0001	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0002t0001g0025 others(47): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0002t0001g0025 a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0135 a0001c0002t0001g0151 a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0014 a0001c0003t0001g0030 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0016 a0001c0004t0001g0056 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0106 a0001c0004t0001g0109 a0001c0004t0001g0121 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0018 a0001c0005t0001g0026 a0001c0005t0001g0037 a0001c0005t0001g0088 a0001c0005t0001g0113 a0001c0007t0001g0015 a0001c0007t0001g0061 a0001c0007t0001g0159 a0001c0008t0002g0170 a0001c0008t0002g0182 a0001c0009t0002g0169 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0012t0002g0179 a0001c0012t0002g0183 a0001c0035t0009g0140 a0001c0036t0003g0055 a0004c0024t0001g0160 a0006c0037t0001g0010	50	183	0.2732	45	c.107 others(64): Show c.1077+6867_1077+6868insGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241169	C C	CCCCTTCC others(38): Show CCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	183	0.0055	45	c.107 others(64): Show c.1077+6740_1077+6741insTGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241402	C C	CGGGACCC others(38): Show CGGGACCCTCCCTATACCAATTACACACACAACACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0014 a0001c0001t0001 a0001c0026t0014	a0001c0001t0001g0149 a0001c0026t0014g0052 a0001c0001t0001g0149 a0001c0026t0014g0052	2	183	0.0109	45	c.107 others(64): Show c.1077+6507_1077+6508insTGGAAGGGTGTGTGTTGTGTGTGTAA TTGGTATAGGGAGGGTCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241490	C C	CCAGGGGC others(38): Show CCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	183	0.0055	45	c.107 others(64): Show c.1077+6419_1077+6420insTAAGGGTGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241499	C C	CTCCCTAT others(38): Show CTCCCTATACCCATTACACACACGCCACACACCCTTCCCTTGGCCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp2 HG02148.hp2 others(1): Show HG01109.hp1 HG02055.hp2 HG02148.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0025 a0001c0003 a0001c0004 a0001c0025	a0001c0003t0001 a0001c0004t0001 a0001c0025t0012 a0001c0003t0001 a0001c0004t0001 a0001c0025t0012	a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0004t0001g0016 others(1): Show a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0004t0001g0016 a0001c0025t0012g0048	4	183	0.0219	45	c.107 others(64): Show c.1077+6410_1077+6411insCGGCCAAGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241523	C C	CCACACCC others(38): Show CCACACCCCCTTCCCAGGGACCTCCCTATCCCCATTAAACACACAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(3): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 others(1): Show a0001c0001 a0001c0016 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003	a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 others(3): Show a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	6	183	0.0328	45	c.107 others(64): Show c.1077+6386_1077+6387insTTGTGTGTTTAATGGGGATAGGGAGG TCCCTGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241537	C C	CAGGGCCC others(38): Show CAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03492.hp1 HG01070.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0083 a0001c0003t0001g0012 a0001c0001t0001g0083 a0001c0003t0001g0012	2	183	0.0109	45	c.107 others(64): Show c.1077+6372_1077+6373insTGGAAGGGGGTGTGTTGTGTGTGTAA TGGGGATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241589	C C	CTCCCTAT others(38): Show CTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03688.hp1 HG03942.hp2 HG03017.hp1 HG03688.hp1 HG03942.hp2	a0001 a0001	a0001c0006 a0001c0041 a0001c0006 a0001c0041	a0001c0006t0001 a0001c0041t0015 a0001c0006t0001 a0001c0041t0015	a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0041t0015g0178 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0041t0015g0178	3	183	0.0164	45	c.107 others(64): Show c.1077+6320_1077+6321insCGGCCCTGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241613	A A	ACACACAC others(38): Show ACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	183	0.0055	45	c.107 others(64): Show c.1077+6296_1077+6297insGTGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241747	A A	ACCACACA others(38): Show ACCACACACCCTTCCCGGAGCCCTCCCTATACCCATTACACACACG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(3): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02723.hp2 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0017 others(1): Show a0001c0001 a0001c0016 a0001c0017 a0001c0019	a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003	a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 others(3): Show a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	6	183	0.0328	45	c.107 others(64): Show c.1077+6162_1077+6163insCGTGTGTGTAATGGGTATAGGGAGGG CTCCGGGAAGGGTGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241762	C C	CAGGGCCC others(38): Show CAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 NA18906.hp1 HG01167.hp1 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0029 a0001c0001 a0001c0014 a0001c0029	a0001c0001t0001 a0001c0014t0003 a0001c0029t0003 a0001c0001t0001 a0001c0014t0003 a0001c0029t0003	a0001c0001t0001g0150 a0001c0014t0003g0153 a0001c0029t0003g0107 a0001c0001t0001g0150 a0001c0014t0003g0153 a0001c0029t0003g0107	3	183	0.0164	45	c.107 others(64): Show c.1077+6147_1077+6148insTGGAAGGGGGTGTGTTGTGTGTGTAA TGGGGATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241838	A A	ACACACCC others(38): Show ACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02165.hp2 HG02280.hp2 others(7): Show HG00609.hp1 HG02165.hp2 HG02280.hp2 HG03209.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA19004.hp2 NA19009.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0009	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0007t0001 a0001c0009t0002	a0001c0002t0001g0025 a0001c0002t0001g0069 a0001c0002t0001g0070 others(7): Show a0001c0002t0001g0025 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0151 a0001c0003t0001g0041 a0001c0003t0001g0123 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0007t0001g0159 a0001c0009t0002g0169	10	183	0.0546	45	c.107 others(64): Show c.1077+6071_1077+6072insGCGTGTGTGTAATGGGTATAGGGAAG GCCCCGGGAAGGGGGTGTG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar

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