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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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
FXYD6_chr11_117831981_117881658	117858675	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0288 a0001c0001t0004g0288	1	430	0.0023	-26	c.-5- others(43): Show c.-5-15920_-5-15895delAAGAAAGAAAGAAAGAAAGAAAGAAA	FXYD6	ENSG00000137726.17	transcript	ENST00000526014.6	protein_coding	1/7			chr11	TogoVar
FXYD6_chr11_117831981_117881658	117858677	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	430	0.0023	-26	c.-5- others(43): Show c.-5-15922_-5-15897delGAAAGAAAGAAAGAAAGAAAGAAAGA	FXYD6	ENSG00000137726.17	transcript	ENST00000526014.6	protein_coding	1/7			chr11	TogoVar
FXYD7_chr19_35138255_35159302	35148069	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	444	0.0023	-26	c.32- others(39): Show c.32-621_32-596delAAGAAAGAAAGAAAGAAAGAAAGAGA	FXYD7	ENSG00000221946.8	transcript	ENST00000270310.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
FYB1_chr5_39100252_39224563	39148153	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0108 a0006c0008t0003g0108	1	326	0.0031	-26	c.129 others(45): Show c.1292+5269_1292+5294delTATATATATATATATATATATATAAA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39148155	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04228.hp1 HG02735.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0282 a0002c0002t0001g0283	2	326	0.0061	-26	c.129 others(45): Show c.1292+5267_1292+5292delTATATATATATATATATATATATATA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	3/18			chr5	TogoVar
FYB1_chr5_39100252_39224563	39182287	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp1 HG02109.hp1 others(10): Show HG01192.hp1 HG01884.hp1 HG02109.hp1 HG02647.hp2 HG02683.hp1 HG03098.hp1 HG03453.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0024 a0002c0002 others(1): Show a0001c0001 a0001c0024 a0002c0002 a0009c0011	a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 others(8): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0024t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0014 a0009c0011t0003 a0009c0011t0013	a0001c0001t0004g0325 a0001c0001t0010g0317 a0001c0001t0016g0003 others(10): Show a0001c0001t0004g0325 a0001c0001t0010g0317 a0001c0001t0016g0003 a0001c0024t0002g0072 a0002c0002t0003g0037 a0002c0002t0006g0038 a0002c0002t0007g0025 a0002c0002t0007g0169 a0002c0002t0010g0301 a0002c0002t0010g0302 a0002c0002t0014g0009 a0009c0011t0003g0080 a0009c0011t0013g0221	13	326	0.0399	-26	c.113 others(47): Show c.1135+19513_1135+19538delCACACACACACACACACACACACA CA	FYB1	ENSG00000082074.19	transcript	ENST00000512982.4	protein_coding	2/18			chr5	TogoVar
FYB2_chr1_56713789_56824404	56734317	AGATGGGT others(19): Show AGATGGGTCTCCTGAATACAGCACACT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp2 HG01257.hp1 others(21): Show HG00639.hp1 HG01109.hp2 HG01257.hp1 HG01891.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 NA18522.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0003c0004 a0003c0005 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0002c0003t0001 a0002c0003t0003 a0002c0007t0001 a0003c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0149 a0001c0001t0001g0168 others(19): Show a0001c0001t0001g0008 a0001c0001t0001g0149 a0001c0001t0001g0168 a0001c0001t0001g0182 a0001c0001t0001g0323 a0001c0001t0001g0352 a0001c0001t0001g0367 a0001c0001t0002g0242 a0001c0001t0003g0116 a0001c0002t0001g0349 a0002c0003t0001g0122 a0002c0003t0003g0231 a0002c0007t0001g0321 a0002c0007t0001g0369 a0002c0007t0001g0370 a0003c0004t0001g0188 a0003c0004t0001g0311 a0003c0005t0001g0300 a0004c0006t0001g0118 a0004c0006t0001g0358 a0005c0008t0001g0006 a0005c0008t0001g0259	24	380	0.0632	-26	c.179 others(45): Show c.1793+2744_1793+2769delAGTGTGCTGTATTCAGGAGACCCATC	FYB2	ENSG00000187889.13	transcript	ENST00000343433.7	protein_coding	15/19			chr1	TogoVar
FYCO1_chr3_45912903_46000824	45977350	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(44): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG01167.hp2 HG01496.hp1 HG01943.hp2 HG02135.hp2 HG02155.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18954.hp2 NA18956.hp1 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18987.hp1 NA18992.hp1 NA18997.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19080.hp2 NA19084.hp1 NA21309.hp2	a0001 a0002 a0013 others(1): Show a0001 a0002 a0013 a0024	a0001c0002 a0001c0006 a0002c0001 others(2): Show a0001c0002 a0001c0006 a0002c0001 a0013c0037 a0024c0031	a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 others(7): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0031 a0001c0002t0036 a0001c0006t0003 a0002c0001t0001 a0013c0037t0004 a0024c0031t0002	a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0020 others(33): Show a0001c0002t0002g0006 a0001c0002t0002g0012 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0053 a0001c0002t0002g0060 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0128 a0001c0002t0002g0164 a0001c0002t0004g0013 a0001c0002t0004g0025 a0001c0002t0004g0054 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0008g0121 a0001c0002t0008g0122 a0001c0002t0015g0022 a0001c0002t0031g0090 a0001c0002t0036g0096 a0001c0006t0003g0221 a0002c0001t0001g0118 a0013c0037t0004g0114 a0024c0031t0002g0099	47	336	0.1399	-26	c.289 others(43): Show c.289-2031_289-2006delATATATATATATATATATATATATAT	FYCO1	ENSG00000163820.16	transcript	ENST00000296137.7	protein_coding	4/17			chr3	TogoVar
FYN_chr6_111655332_111878452	111797665	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02486.hp1 others(14): Show HG00741.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0136 others(14): Show a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0002g0092 a0001c0001t0004g0132 a0001c0001t0012g0167 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0004g0133	17	234	0.0727	-26	c.-81 others(45): Show c.-81-17056_-81-17031delATATATATATATATATATATATATAT	FYN	ENSG00000010810.18	transcript	ENST00000354650.7	protein_coding	2/13			chr6	TogoVar
FZD10_chr12_130157464_130170740	130157740	TATACACA others(19): Show TATACACACACATATATACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02818.hp1 others(4): Show HG02055.hp2 HG02572.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000	7	450	0.0156	-26	c.-52 others(37): Show c.-5202_-5177delATACACACACATATATACACACACAC	FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding		4723		chr12	TogoVar
FZD10_chr12_130157464_130170740	130157798	CACACACA others(19): Show CACACACATATATACACACACATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	450	0.0022	-26	c.-51 others(37): Show c.-5144_-5119delACACACATATATACACACACATATAT	FZD10	ENSG00000111432.5	transcript	ENST00000229030.5	protein_coding		4665		chr12	TogoVar
FZD3_chr8_28489212_28579258	28530089	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02145.hp2 HG02258.hp1 others(4): Show HG02071.hp2 HG02145.hp2 HG02258.hp1 HG02622.hp1 NA18950.hp1 NA18984.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0034 others(4): Show a0001c0002t0006g0032 a0001c0002t0006g0033 a0001c0002t0006g0034 a0001c0002t0006g0035 a0001c0002t0006g0036 a0001c0002t0006g0037 a0001c0002t0006g0038	7	328	0.0213	-26	c.140 others(45): Show c.1404+1953_1404+1978delGTGTGTGTGTGTGTGTGTGTGTGTGT	FZD3	ENSG00000104290.11	transcript	ENST00000240093.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
FZR1_chr19_3501311_3543334	3526568	TCTAGCAG others(19): Show TCTAGCAGGTAAACTGGGATGTGGGGG	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0134 a0001c0001t0003g0134	1	314	0.0032	-26	c.387 others(41): Show c.387+183_387+208delCTAGCAGGTAAACTGGGATGTGGGGG	FZR1	ENSG00000105325.15	transcript	ENST00000441788.7	protein_coding	5/13			chr19	TogoVar
G6PC2_chr2_168896291_168915000	168897588	AATAAATT others(19): Show AATAAATTATATAATTTATTACATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02965.hp2 others(2): Show HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0004 a0001c0001t0001 a0004c0004t0004	a0001c0001t0001g0007 a0004c0004t0004g0010 a0001c0001t0001g0007 a0004c0004t0004g0010	5	425	0.0118	-26	c.-37 others(37): Show c.-3743_-3718delATAAATTATATAATTTATTACATGTG	G6PC2	ENSG00000152254.11	transcript	ENST00000375363.8	protein_coding		3702		chr2	TogoVar
GAB1_chr4_143331876_143479565	143423792	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03834.hp2 HG02622.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0005 a0001c0001t0009g0074 a0001c0001t0007g0005 a0001c0001t0009g0074	2	194	0.0103	-26	c.367 others(43): Show c.367+8041_367+8066delATATATATATATATATATATATATAT	GAB1	ENSG00000109458.10	transcript	ENST00000262994.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAB2_chr11_78210293_78422820	78346674	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0047 a0001c0009t0047	a0001c0009t0047g0221 a0001c0009t0047g0221	1	288	0.0035	-26	c.76- others(43): Show c.76-65799_76-65774delATATATATATATATATATATATATAT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAB3_chrX_154670249_154756077	154739696	GACAGAGG others(19): Show GACAGAGGTGGAAGAAGTTTTCATCAA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03486.hp2 HG02922.hp1 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0001c0001t0001 a0001c0001t0015 a0001c0001t0017	a0001c0001t0001g0018 a0001c0001t0015g0017 a0001c0001t0017g0016 a0001c0001t0001g0018 a0001c0001t0015g0017 a0001c0001t0017g0016	3	257	0.0117	-26	c.72+ others(43): Show c.72+11232_72+11257delTTGATGAAAACTTCTTCCACCTCTGT	GAB3	ENSG00000160219.12	transcript	ENST00000424127.3	protein_coding	1/9			chrX	TogoVar
GABBR2_chr9_98283109_98713935	98436343	CACACCAT others(19): Show CACACCATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0080 a0001c0005t0013g0081 a0001c0005t0013g0080 a0001c0005t0013g0081	2	164	0.0122	-26	c.123 others(47): Show c.1236+17612_1236+17637delTATATATATATATATATATATGGT GT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	7/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98560418	TATACACA others(19): Show TATACACATACACACACACACACATAC	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0145 a0002c0006t0004g0145	1	164	0.0061	-26	c.459 others(45): Show c.459+17491_459+17516delGTATGTGTGTGTGTGTGTATGTGTAT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	2/18			chr9	TogoVar
GABRA2_chr4_46238548_46395128	46297500	TATATATA others(19): Show TATATATATATATATATGGAGAACTGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp1 HG02922.hp2 HG02451.hp1 HG02809.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0107 a0001c0001t0150 a0001c0001t0007 a0001c0001t0107 a0001c0001t0150	a0001c0001t0007g0086 a0001c0001t0107g0113 a0001c0001t0150g0171 a0001c0001t0007g0086 a0001c0001t0107g0113 a0001c0001t0150g0171	3	258	0.0116	-26	c.856 others(43): Show c.856+5934_856+5959delTCAGTTCTCCATATATATATATATAT	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	8/9			chr4	TogoVar
GABRA2_chr4_46238548_46395128	46328280	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGCGCACACGCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0127 a0001c0001t0026g0127	1	258	0.0039	-26	c.255 others(43): Show c.255+4309_255+4334delTGCGTGTGCGCACACACACACACACA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	4/9			chr4	TogoVar
GABRA3_chrX_152161234_152456315	152212306	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	204	0.0049	-26	c.635 others(43): Show c.635-4188_635-4163delATTTTTTTTTTTTTTTTTTTTTTTTT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152216389	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02615.hp1 others(9): Show HG01884.hp2 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02809.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013	a0001c0001t0001g0114 a0001c0001t0001g0192 a0001c0001t0002g0067 others(9): Show a0001c0001t0001g0114 a0001c0001t0001g0192 a0001c0001t0002g0067 a0001c0001t0002g0088 a0001c0001t0003g0111 a0001c0001t0003g0138 a0001c0001t0003g0144 a0001c0001t0006g0066 a0001c0001t0006g0094 a0001c0001t0007g0152 a0001c0001t0008g0058 a0001c0001t0013g0180	12	204	0.0588	-26	c.635 others(43): Show c.635-8271_635-8246delGTGTGTGTGTGTGTGTGTGTGTGTGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	6/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152360700	AAAAAAAA others(19): Show AAAAAAAAAAATTAAAAAAAAAAAATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA20129.hp1 HG01891.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0123 a0001c0001t0003g0129 a0001c0001t0001g0123 a0001c0001t0003g0129	2	204	0.0098	-26	c.140 others(43): Show c.140+3705_140+3730delAATTTTTTTTTTTTAATTTTTTTTTT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	2/9			chrX	TogoVar
GABRA4_chr4_46913900_46998581	46987704	TATTCCAA others(19): Show TATTCCAAGCAACCATCAACTTAAGAG	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0162 a0001c0001t0007g0162	1	370	0.0027	-26	c.205 others(43): Show c.205+5098_205+5123delCTCTTAAGTTGATGGTTGCTTGGAAT	GABRA4	ENSG00000109158.11	transcript	ENST00000264318.4	protein_coding	2/8			chr4	TogoVar
GABRB1_chr4_47026567_47431447	47246337	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02071.hp1 HG02723.hp2 others(3): Show HG01099.hp2 HG02071.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0009t0001	a0001c0001t0001g0047 a0001c0001t0004g0150 a0001c0003t0002g0086 others(3): Show a0001c0001t0001g0047 a0001c0001t0004g0150 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0103 a0001c0009t0001g0124	6	158	0.0380	-26	c.462 others(45): Show c.462-73756_462-73731delTATATATATATATATATATATATATA	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB1_chr4_47026567_47431447	47415895	TGGCCATT others(19): Show TGGCCATTGAAACTCAGAGCTCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0146 a0001c0003t0007g0146	1	158	0.0063	-26	c.108 others(45): Show c.1080+8971_1080+8996delGCCATTGAAACTCAGAGCTCAGAGAG	GABRB1	ENSG00000163288.14	transcript	ENST00000295454.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRB2_chr5_161283436_161551725	161393299	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02257.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG02257.hp1 HG02622.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0038 a0001c0001t0045 others(2): Show a0001c0001t0028 a0001c0001t0038 a0001c0001t0045 a0001c0001t0057 a0001c0001t0058	a0001c0001t0028g0026 a0001c0001t0028g0027 a0001c0001t0038g0132 others(3): Show a0001c0001t0028g0026 a0001c0001t0028g0027 a0001c0001t0038g0132 a0001c0001t0045g0010 a0001c0001t0057g0133 a0001c0001t0058g0134	6	266	0.0226	-26	c.541 others(45): Show c.541+17650_541+17675delTTTTTTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	5/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26764169	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	204	0.0049	-26	c.240 others(43): Show c.240+8207_240+8232delATATATATATATATATTTTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26764171	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03471.hp2 NA18968.hp2 others(1): Show HG02602.hp1 HG03471.hp2 NA18968.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0054 a0001c0001t0002g0055 a0001c0001t0004g0053 others(1): Show a0001c0001t0001g0054 a0001c0001t0002g0055 a0001c0001t0004g0053 a0001c0001t0008g0056	4	204	0.0196	-26	c.240 others(43): Show c.240+8205_240+8230delATATATATATATATATATTTTTTTTT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306663	TGTTTATA others(19): Show TGTTTATATATAAACATATATATGAAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0045 a0001c0005t0005g0045	1	92	0.0109	-26	c.271 others(45): Show c.271-20145_271-20120delGTTTATATATAAACATATATATGAAC	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27306980	ATATAAAC others(19): Show ATATAAACATGTTTATATATAAACATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp2 NA19030.hp1 HG02451.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0014 a0001c0004 a0001c0006 a0001c0014	a0001c0004t0011 a0001c0006t0013 a0001c0014t0024 a0001c0004t0011 a0001c0006t0013 a0001c0014t0024	a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0014t0024g0057 a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0014t0024g0057	3	92	0.0326	-26	c.271 others(45): Show c.271-19796_271-19771delCATGTTTATATATAAACATGTATAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GADD45B_chr19_2471127_2483257	2482799	ACACACAC others(19): Show ACACACACACACATGCACACACGCATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(252): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0011 a0001c0001t0005g0003 a0001c0001t0006g0001 a0001c0001t0008g0001 a0001c0001t0009g0004 a0001c0001t0011g0001	255	460	0.5544	-26	c.51 others(37): Show c.5199_*5224delCACACACACACATGCACACACGCATG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		4543		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2482833	ACACATGC others(19): Show ACACATGCACACACACGCACACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	460	0.0022	-26	c.52 others(37): Show c.5233_*5258delCACATGCACACACACGCACACACACG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		4577		chr19	TogoVar
GAGE12H_chrX_49574949_49592301	49586011	TATTTATT others(19): Show TATTTATTTATTTATTATTTATTTATC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00558.hp2 others(45): Show HG00323.hp2 HG00438.hp1 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02080.hp1 HG02129.hp1 HG02293.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG03130.hp1 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp1 HG03927.hp2 NA18942.hp1 NA18947.hp1 NA18947.hp2 NA18957.hp2 NA18965.hp1 NA18979.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19010.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0007 a0008 a0010 a0012	a0002c0002 a0003c0003 a0004c0004 others(4): Show a0002c0002 a0003c0003 a0004c0004 a0007c0007 a0008c0010 a0010c0008 a0012c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0003c0003t0002 a0003c0003t0005 a0004c0004t0001 a0007c0007t0002 a0008c0010t0010 a0010c0008t0004 a0012c0013t0002	a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0006 others(35): Show a0002c0002t0001g0017 a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0004g0010 a0002c0002t0004g0073 a0002c0002t0004g0075 a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0089 a0002c0002t0005g0019 a0002c0002t0005g0020 a0002c0002t0005g0022 a0002c0002t0006g0021 a0002c0002t0009g0001 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0088 a0003c0003t0005g0080 a0003c0003t0005g0081 a0004c0004t0001g0028 a0004c0004t0001g0040 a0004c0004t0001g0045 a0004c0004t0001g0048 a0004c0004t0001g0074 a0007c0007t0002g0083 a0007c0007t0002g0084 a0008c0010t0010g0023 a0010c0008t0004g0078 a0012c0013t0002g0050	48	116	0.4138	-26	c.332 others(43): Show c.332-1173_332-1148delTATTTATTTATTATTTATTTATCATT	GAGE12H	ENSG00000224902.6	transcript	ENST00000381722.2	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
GAGE1_chrX_49594020_49613538	49595534	ATTTATTT others(19): Show ATTTATTTATTTATTTATTTATTTATC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	311	0.0032	-26	c.-36 others(37): Show c.-3601_-3576delTTTATTTATTTATTTATTTATTTATC	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding		3485		chrX	TogoVar
GAGE2A_chrX_49584496_49601824	49586011	TATTTATT others(19): Show TATTTATTTATTTATTATTTATTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(50): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00639.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01978.hp1 HG01978.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02300.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG03239.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18952.hp1 NA18959.hp1 NA18964.hp1 NA18965.hp1 NA18980.hp1 NA18980.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19074.hp1 NA19083.hp1 NA19086.hp1 NA20805.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0010	a0001c0001 a0005c0005 a0007c0007 others(1): Show a0001c0001 a0005c0005 a0007c0007 a0010c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0005c0005t0007 a0007c0007t0002 a0010c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0085 a0001c0001t0006g0080 a0001c0001t0006g0081 a0005c0005t0007g0018 a0007c0007t0002g0082 a0010c0010t0001g0053	53	130	0.4077	-26	c.-36 others(37): Show c.-3600_-3575delATTTATTTATTTATTATTTATTTATC	GAGE2A	ENSG00000189064.9	transcript	ENST00000362097.2	protein_coding		3484		chrX	TogoVar
GAK_chr4_844277_937316	856201	TCACACCT others(19): Show TCACACCTGCTCACCACAGCTGCTCAC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	390	0.0026	-26	c.328 others(45): Show c.3283+3379_3283+3404delGTGAGCAGCTGTGGTGAGCAGGTGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	856497	ACTCACCA others(19): Show ACTCACCACCACAGCTGCTCACACCTG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	390	0.0026	-26	c.328 others(45): Show c.3283+3083_3283+3108delCAGGTGTGAGCAGCTGTGGTGGTGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	24/27			chr4	TogoVar
GAK_chr4_844277_937316	915028	CACACACA others(19): Show CACACACAGCCCCAGCGCACACGGCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG02071.hp1 others(10): Show HG00099.hp1 HG00408.hp1 HG02071.hp1 HG02155.hp2 HG03239.hp2 HG03486.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp1 NA18994.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(10): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	13	390	0.0333	-26	c.146 others(43): Show c.146-1386_146-1361delTGGCCGTGTGCGCTGGGGCTGTGTGT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALK2_chr15_49165247_49336882	49277137	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG01074.hp2 others(41): Show HG00280.hp2 HG00733.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01517.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02523.hp1 HG02698.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp1 HG03540.hp1 HG03834.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18953.hp1 NA18953.hp2 NA18962.hp1 NA18970.hp1 NA18974.hp1 NA18981.hp2 NA18986.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19064.hp2 NA19080.hp2 NA19082.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0039 others(40): Show a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0006g0320 a0001c0001t0009g0103 a0001c0001t0010g0035 a0001c0001t0010g0204 a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207 a0001c0001t0010g0208 a0001c0001t0016g0093 a0001c0001t0020g0109 a0001c0001t0031g0078 a0001c0001t0032g0114	44	348	0.1264	-26	c.505 others(43): Show c.505-4826_505-4801delTTTTTTTTTTTTTTTTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703068	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02074.hp1 others(9): Show HG00423.hp2 HG00544.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp1 NA18951.hp1 NA18970.hp2 NA18973.hp1 NA18986.hp2 NA19005.hp2 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 others(9): Show a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0002g0253	12	328	0.0366	-26	c.634 others(45): Show c.634+13176_634+13201delATATATATATATATATATATATATTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703070	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18991.hp1 NA19060.hp2 HG03453.hp2 NA18991.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0031 a0001c0001t0001 a0001c0001t0028 a0001c0001t0031	a0001c0001t0001g0240 a0001c0001t0028g0307 a0001c0001t0031g0256 a0001c0001t0001g0240 a0001c0001t0028g0307 a0001c0001t0031g0256	3	328	0.0092	-26	c.634 others(45): Show c.634+13178_634+13203delATATATATATATATATATATATTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38717306	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	328	0.0031	-26	c.635 others(45): Show c.635-12235_635-12210delGTGTGTGTGTGTGTGTGTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp2 others(9): Show HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0003g0022 a0001c0001t0003g0038 others(9): Show a0001c0001t0001g0037 a0001c0001t0003g0022 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0095 a0001c0001t0004g0096	12	284	0.0423	-26	c.123 others(43): Show c.1233+331_1233+356delTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154110312	TATATATA others(19): Show TATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03710.hp1 NA19057.hp2 others(1): Show HG01074.hp2 HG03710.hp1 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018	a0001c0001t0013g0152 a0001c0001t0017g0162 a0001c0001t0018g0153 others(1): Show a0001c0001t0013g0152 a0001c0001t0017g0162 a0001c0001t0018g0153 a0001c0001t0018g0165	4	214	0.0187	-26	c.143 others(45): Show c.143-30023_143-29998delTATATATATATATATATATATATAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110314	TATATATA others(19): Show TATATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0067 a0001c0001t0015g0067	1	214	0.0047	-26	c.143 others(45): Show c.143-30021_143-29996delTATATATATATATATATATATAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110316	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0168 a0001c0001t0017g0168	1	214	0.0047	-26	c.143 others(45): Show c.143-30019_143-29994delTATATATATATATATATATAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110320	TATATATA others(19): Show TATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0157 a0001c0001t0017g0157	1	214	0.0047	-26	c.143 others(45): Show c.143-30015_143-29990delTATATATATATATATAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110322	TATATATA others(19): Show TATATATATATATATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	214	0.0047	-26	c.143 others(45): Show c.143-30013_143-29988delTATATATATATATAGAGAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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