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	distance	status	chr	external
AVEN_chr15_33861227_34044204	33989450	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	266	0.0038	-12	c.445 others(31): Show c.445+13570_445+13581delTTTTTTTTTTTT		AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5						chr15	TogoVar
AVEN_chr15_33861227_34044204	34038912	CCCGCCGC others(5): Show CCCGCCGCCGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG01069.hp2 HG01106.hp2 others(13): Show HG00099.hp2 HG01069.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0007 a0003c0003 a0005c0007	a0003c0003t0001 a0003c0003t0003 a0005c0007t0003 a0003c0003t0001 a0003c0003t0003 a0005c0007t0003	a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 others(13): Show a0003c0003t0001g0263 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0008 a0003c0003t0003g0011 a0003c0003t0003g0012 a0003c0003t0003g0013 a0003c0003t0003g0014 a0003c0003t0003g0015 a0005c0007t0003g0006 a0005c0007t0003g0009 a0005c0007t0003g0010	16	266	0.0602	-12	c.123 others(19): Show c.123_134delAGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly45del	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	1/6	292/1633	123/1089	41/362			chr15	TogoVar
AVL9_chr7_32490489_32593726	32495327	CCCTCCCC others(5): Show CCCTCCCCCCGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00621.hp2 others(43): Show HG00408.hp2 HG00544.hp2 HG00621.hp2 HG01099.hp1 HG01243.hp1 HG01358.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02135.hp1 HG02257.hp2 HG02300.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp2 NA18948.hp1 NA18965.hp1 NA18966.hp1 NA18984.hp2 NA18988.hp2 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19077.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0012 others(1): Show a0001c0001 a0002c0003 a0002c0012 a0003c0005	a0001c0001t0010 a0001c0001t0094 a0002c0003t0002 others(16): Show a0001c0001t0010 a0001c0001t0094 a0002c0003t0002 a0002c0003t0008 a0002c0003t0012 a0002c0003t0020 a0002c0003t0030 a0002c0003t0032 a0002c0003t0040 a0002c0003t0041 a0002c0003t0081 a0002c0003t0082 a0002c0003t0084 a0002c0003t0089 a0002c0003t0090 a0002c0003t0115 a0002c0003t0116 a0002c0012t0002 a0003c0005t0023	a0001c0001t0010g0163 a0001c0001t0094g0175 a0002c0003t0002g0117 others(43): Show a0001c0001t0010g0163 a0001c0001t0094g0175 a0002c0003t0002g0117 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0141 a0002c0003t0002g0144 a0002c0003t0002g0152 a0002c0003t0002g0173 a0002c0003t0008g0002 a0002c0003t0008g0115 a0002c0003t0008g0123 a0002c0003t0008g0125 a0002c0003t0008g0128 a0002c0003t0008g0170 a0002c0003t0008g0328 a0002c0003t0012g0116 a0002c0003t0012g0120 a0002c0003t0012g0146 a0002c0003t0012g0148 a0002c0003t0012g0149 a0002c0003t0012g0150 a0002c0003t0020g0113 a0002c0003t0020g0130 a0002c0003t0020g0134 a0002c0003t0020g0169 a0002c0003t0030g0151 a0002c0003t0030g0165 a0002c0003t0032g0118 a0002c0003t0032g0135 a0002c0003t0032g0136 a0002c0003t0040g0172 a0002c0003t0041g0139 a0002c0003t0041g0147 a0002c0003t0081g0164 a0002c0003t0082g0002 a0002c0003t0084g0127 a0002c0003t0089g0124 a0002c0003t0090g0122 a0002c0003t0115g0140 a0002c0003t0116g0166 a0002c0012t0002g0145 a0003c0005t0023g0143	46	330	0.1394	-12	c.-38 others(21): Show c.-382_-371delCCTCCCCCCGCT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding					161		chr7	TogoVar
AVL9_chr7_32490489_32593726	32503365	TATATATA others(5): Show TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19054.hp1 HG02717.hp2 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0006 a0001c0008t0119 a0001c0002t0006 a0001c0008t0119	a0001c0002t0006g0109 a0001c0008t0119g0311 a0001c0002t0006g0109 a0001c0008t0119g0311	2	330	0.0061	-12	c.93+ others(27): Show c.93+7565_93+7576delTATATATACACA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32536177	CATGTACA others(5): Show CATGTACAGCTAT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0256 a0001c0001t0099g0256	1	330	0.0030	-12	c.94- others(27): Show c.94-6957_94-6946delAGCTATATGTAC		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19240.hp1 NA18962.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0114 a0001c0001t0078 a0001c0001t0114	a0001c0001t0078g0241 a0001c0001t0114g0238 a0001c0001t0078g0241 a0001c0001t0114g0238	2	330	0.0061	-12	c.94- others(27): Show c.94-2236_94-2225delTTTTTTTTTTTT		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579339	CACATATT others(5): Show CACATATTTTATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0121 a0002c0003t0002g0152 a0002c0003t0002g0121 a0002c0003t0002g0152	2	330	0.0061	-12	c.168 others(29): Show c.1689-879_1689-868delACATATTTTATA		AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15						chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01358.hp1 HG02523.hp2 others(1): Show HG01069.hp2 HG01358.hp1 HG02523.hp2 NA18969.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0002 a0002c0002t0002 a0005c0006t0001 a0001c0001t0002 a0002c0002t0002 a0005c0006t0001	a0001c0001t0002g0058 a0002c0002t0002g0053 a0002c0002t0002g0106 others(1): Show a0001c0001t0002g0058 a0002c0002t0002g0053 a0002c0002t0002g0106 a0005c0006t0001g0199	4	446	0.0090	-12	c.287 others(27): Show c.287+727_287+738delACACACACACAC		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2						chr10	TogoVar
AVPR1A_chr12_63137759_63156201	63138010	CCTCCCTC others(5): Show CCTCCCTCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03516.hp1 HG02976.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0021 a0002c0003t0011g0021	2	448	0.0045	-12	c.93 others(23): Show c.9337_*9348delAGAGGGAGGGAG		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4748		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138022	TCTCCCTC others(5): Show TCTCCCTCCCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	448	0.0022	-12	c.93 others(23): Show c.9325_*9336delGGAGGGAGGGAG		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4736		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138051	CTCCCTCC others(5): Show CTCCCTCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 NA18991.hp1 HG00673.hp2 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0115 a0001c0002t0001g0030 a0001c0002t0001g0115	2	448	0.0045	-12	c.92 others(23): Show c.9296_*9307delAGGAGGGAGGGA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4707		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138055	CTCCCTCC others(5): Show CTCCCTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03041.hp2 HG02735.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0009 a0001c0001t0007g0074 a0001c0001t0005g0009 a0001c0001t0007g0074	2	448	0.0045	-12	c.92 others(23): Show c.9292_*9303delAGGAAGGAGGGA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4703		chr12	TogoVar
AVPR1A_chr12_63137759_63156201	63138059	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(45): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02165.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18962.hp2 NA18971.hp1 NA18991.hp2 NA19001.hp1 NA19006.hp2 NA19007.hp2 NA19060.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 a0001c0001t0034 a0001c0001t0037 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0003g0078 a0001c0001t0007g0012 a0001c0001t0017g0057 a0001c0001t0017g0101 a0001c0001t0023g0076 a0001c0001t0023g0083 a0001c0001t0034g0082 a0001c0001t0037g0098 a0001c0001t0041g0077 a0001c0001t0044g0092 a0001c0001t0045g0079 a0001c0001t0049g0080	48	448	0.1071	-12	c.92 others(23): Show c.9288_*9299delAGGAAGGAAGGA		AVPR1A	ENSG00000166148.4	transcript	ENST00000299178.4	protein_coding					4699		chr12	TogoVar
AVPR1B_chr1_206101936_206122388	206118721	AAAACAAA others(5): Show AAAACAAACAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02145.hp2 HG02451.hp2 others(10): Show HG01891.hp2 HG02145.hp2 HG02451.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0003c0010 a0001c0001 a0003c0009 a0003c0010	a0001c0001t0014 a0001c0001t0021 a0001c0001t0036 others(3): Show a0001c0001t0014 a0001c0001t0021 a0001c0001t0036 a0001c0001t0073 a0003c0009t0082 a0003c0010t0078	a0001c0001t0014g0020 a0001c0001t0014g0109 a0001c0001t0021g0029 others(4): Show a0001c0001t0014g0020 a0001c0001t0014g0109 a0001c0001t0021g0029 a0001c0001t0036g0046 a0001c0001t0073g0107 a0003c0009t0082g0117 a0003c0010t0078g0119	13	396	0.0328	-12	c.-18 others(23): Show c.-1843_-1832delGTTTGTTTGTTT		AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding					1334		chr1	TogoVar
AVPR1B_chr1_206101936_206122388	206118813	TGACAGGA others(5): Show TGACAGGAGAGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0053 a0004c0007t0003g0053	1	396	0.0025	-12	c.-19 others(23): Show c.-1935_-1924delTTCTCTCCTGTC		AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding					1426		chr1	TogoVar
AVPR1B_chr1_206101936_206122388	206118840	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0077 a0008c0014t0077	a0008c0014t0077g0115 a0008c0014t0077g0115	1	396	0.0025	-12	c.-19 others(23): Show c.-1962_-1951delAAAAAAAAAAAA		AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding					1453		chr1	TogoVar
AVPR1B_chr1_206101936_206122388	206122048	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01123.hp1 others(14): Show HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01256.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG02559.hp2 HG02698.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03540.hp1 NA18962.hp1 NA18986.hp2 NA19065.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0004 a0003c0006 others(1): Show a0001c0001 a0001c0004 a0003c0006 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0019 a0001c0001t0039 a0001c0001t0068 a0001c0004t0018 a0003c0006t0040 a0006c0011t0001	a0001c0001t0001g0001 a0001c0001t0002g0072 a0001c0001t0013g0018 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0072 a0001c0001t0013g0018 a0001c0001t0019g0017 a0001c0001t0039g0050 a0001c0001t0068g0084 a0001c0004t0018g0014 a0003c0006t0040g0051 a0006c0011t0001g0054	17	396	0.0429	-12	c.-51 others(23): Show c.-5170_-5159delCACACACACACA		AVPR1B	ENSG00000198049.7	transcript	ENST00000367126.5	protein_coding					4661		chr1	TogoVar
AVPR2_chrX_153899673_153912166	153901650	TCTCACAC others(5): Show TCTCACACACACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	322	0.0031	-12	c.-32 others(23): Show c.-3293_-3282delCTCACACACACC		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding					3022		chrX	TogoVar
AVPR2_chrX_153899673_153912166	153906778	TTCCTGGG others(5): Show TTCCTGGGGCTGG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0008 a0001c0013t0008	a0001c0013t0008g0001 a0001c0013t0008g0001	1	322	0.0031	-12	c.58 others(19): Show c.58_*69delGCTGGTCCTGGG		AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding	4/4				58	INFO_REALIGN_3_PRIME	chrX	TogoVar
AVP_chr20_3077556_3089724	3088824	CTTTGTTT others(5): Show CTTTGTTTTTGTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA19002.hp1 NA18972.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0005	2	468	0.0043	-12	c.-41 others(23): Show c.-4162_-4151delAACAAAAACAAA		AVP	ENSG00000101200.5	transcript	ENST00000380293.3	protein_coding					4101		chr20	TogoVar
AWAT2_chrX_70035542_70054938	70041893	AGTGTGTG others(5): Show AGTGTGTGATATT	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0024 a0003c0003t0006g0024	1	338	0.0030	-12	c.905 others(19): Show c.905_916delAATATCACACAC	p.Lys others(19): Show p.Lys302_Leu306delinsIle	AWAT2	ENSG00000147160.9	transcript	ENST00000276101.7	protein_coding	7/8	922/2124	905/1002	302/333			chrX	TogoVar
AXDND1_chr1_179360971_179559735	179391522	TTTATTTA others(5): Show TTTATTTATTTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(157): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0012 a0014 a0018 a0019 a0020 a0021 a0022 a0024	a0001c0002 a0001c0006 a0001c0007 others(19): Show a0001c0002 a0001c0006 a0001c0007 a0001c0011 a0001c0021 a0002c0001 a0002c0019 a0002c0023 a0003c0004 a0006c0010 a0007c0009 a0008c0012 a0009c0013 a0011c0016 a0012c0014 a0014c0025 a0018c0033 a0019c0031 a0020c0030 a0021c0032 a0022c0034 a0024c0024	a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 others(19): Show a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0002c0001t0001 a0002c0019t0001 a0002c0023t0001 a0003c0004t0001 a0006c0010t0001 a0007c0009t0001 a0008c0012t0001 a0009c0013t0001 a0011c0016t0001 a0012c0014t0001 a0014c0025t0001 a0018c0033t0001 a0019c0031t0001 a0020c0030t0001 a0021c0032t0001 a0022c0034t0001 a0024c0024t0001	a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 others(157): Show a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0212 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0006t0001g0103 a0001c0006t0001g0137 a0001c0006t0001g0146 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0007t0001g0175 a0001c0011t0001g0085 a0001c0011t0001g0086 a0001c0011t0001g0087 a0001c0011t0001g0119 a0001c0011t0001g0157 a0001c0021t0001g0130 a0001c0021t0001g0131 a0002c0001t0001g0134 a0002c0001t0001g0156 a0002c0019t0001g0044 a0002c0019t0001g0113 a0002c0023t0001g0185 a0002c0023t0001g0186 a0003c0004t0001g0003 a0003c0004t0001g0005 a0003c0004t0001g0008 a0003c0004t0001g0013 a0003c0004t0001g0014 a0003c0004t0001g0016 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0020 a0003c0004t0001g0021 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0024 a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0034 a0003c0004t0001g0035 a0003c0004t0001g0036 a0003c0004t0001g0037 a0003c0004t0001g0038 a0003c0004t0001g0040 a0003c0004t0001g0041 a0003c0004t0001g0042 a0003c0004t0001g0043 a0003c0004t0001g0099 a0003c0004t0001g0173 a0003c0004t0001g0177 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0181 a0003c0004t0001g0182 a0003c0004t0001g0184 a0003c0004t0001g0311 a0003c0004t0001g0317 a0003c0004t0001g0318 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0010 a0006c0010t0001g0011 a0006c0010t0001g0012 a0006c0010t0001g0019 a0006c0010t0001g0039 a0007c0009t0001g0176 a0007c0009t0001g0191 a0007c0009t0001g0192 a0007c0009t0001g0193 a0007c0009t0001g0195 a0007c0009t0001g0196 a0008c0012t0001g0168 a0008c0012t0001g0169 a0008c0012t0001g0170 a0008c0012t0001g0171 a0008c0012t0001g0172 a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 a0009c0013t0001g0098 a0011c0016t0001g0167 a0012c0014t0001g0117 a0012c0014t0001g0122 a0012c0014t0001g0139 a0014c0025t0001g0092 a0018c0033t0001g0319 a0019c0031t0001g0015 a0020c0030t0001g0178 a0021c0032t0001g0007 a0022c0034t0001g0174 a0024c0024t0001g0145	160	356	0.4494	-12	c.864 others(29): Show c.864-2369_864-2358delCTTATTTATTTA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	9/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421035	CCCTTCCT others(5): Show CCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00733.hp1 others(28): Show HG00099.hp2 HG00140.hp1 HG00733.hp1 HG00741.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02055.hp1 HG02071.hp1 HG02165.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 NA18906.hp2 NA19064.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0008 a0009 a0015	a0001c0003 a0002c0001 a0002c0020 others(5): Show a0001c0003 a0002c0001 a0002c0020 a0003c0004 a0004c0005 a0008c0012 a0009c0013 a0015c0029	a0001c0003t0001 a0002c0001t0001 a0002c0020t0001 others(5): Show a0001c0003t0001 a0002c0001t0001 a0002c0020t0001 a0003c0004t0001 a0004c0005t0001 a0008c0012t0001 a0009c0013t0001 a0015c0029t0001	a0001c0003t0001g0216 a0001c0003t0001g0273 a0001c0003t0001g0286 others(28): Show a0001c0003t0001g0216 a0001c0003t0001g0273 a0001c0003t0001g0286 a0002c0001t0001g0312 a0002c0001t0001g0313 a0002c0001t0001g0326 a0002c0001t0001g0327 a0002c0001t0001g0328 a0002c0001t0001g0343 a0002c0020t0001g0320 a0002c0020t0001g0321 a0003c0004t0001g0008 a0003c0004t0001g0022 a0003c0004t0001g0023 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0029 a0003c0004t0001g0032 a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0184 a0004c0005t0001g0304 a0004c0005t0001g0307 a0004c0005t0001g0308 a0008c0012t0001g0172 a0009c0013t0001g0095 a0009c0013t0001g0096 a0009c0013t0001g0097 a0009c0013t0001g0098 a0015c0029t0001g0271	31	356	0.0871	-12	c.123 others(31): Show c.1231-8434_1231-8423delCCTTCCTTCCTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421325	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02109.hp2 others(4): Show HG01099.hp1 HG02055.hp2 HG02109.hp2 HG02486.hp2 HG02559.hp2 HG02723.hp1 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 others(4): Show a0001c0006t0001g0103 a0001c0006t0001g0162 a0001c0006t0001g0163 a0001c0006t0001g0164 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199	7	356	0.0197	-12	c.123 others(31): Show c.1231-8181_1231-8170delTCTTCCTTCCTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179421367	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02970.hp2 others(2): Show HG02145.hp2 HG02818.hp2 HG02970.hp2 HG03041.hp1 NA19030.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0176 a0007c0009t0001g0191 a0007c0009t0001g0192 others(2): Show a0007c0009t0001g0176 a0007c0009t0001g0191 a0007c0009t0001g0192 a0007c0009t0001g0193 a0007c0009t0001g0195	5	356	0.0140	-12	c.123 others(31): Show c.1231-8133_1231-8122delTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179449988	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0162 a0001c0006t0001g0162	1	356	0.0028	-12	c.179 others(31): Show c.1798+4806_1798+4817delTTTTTTTTTTTT		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	16/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488634	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 NA18966.hp2 others(5): Show HG01891.hp2 HG02647.hp1 NA18966.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19086.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0003c0004 a0006c0010 a0001c0003 a0003c0004 a0006c0010	a0001c0003t0001 a0003c0004t0001 a0006c0010t0001 a0001c0003t0001 a0003c0004t0001 a0006c0010t0001	a0001c0003t0001g0046 a0001c0003t0001g0049 a0001c0003t0001g0068 others(5): Show a0001c0003t0001g0046 a0001c0003t0001g0049 a0001c0003t0001g0068 a0003c0004t0001g0318 a0006c0010t0001g0006 a0006c0010t0001g0009 a0006c0010t0001g0010 a0006c0010t0001g0012	8	356	0.0225	-12	c.209 others(31): Show c.2092-2850_2092-2839delTTTCTTTCTTTC		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179532898	GAATAAAT others(5): Show GAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0243 a0002c0001t0001g0243	1	356	0.0028	-12	c.271 others(29): Show c.2716-872_2716-861delAATAAATAAATA		AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	23/25					INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	282663	AGTATGAG others(5): Show AGTATGAGTTTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0061 a0001c0003t0011g0061	1	378	0.0027	-12	c.54 others(23): Show c.5447_*5458delACAAACTCATAC		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding					4776		chr16	TogoVar
AXIN1_chr16_282440_357723	339196	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp2 HG03209.hp2 others(1): Show HG02145.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0023 a0001c0003 a0001c0012 a0004c0023	a0001c0003t0001 a0001c0012t0040 a0004c0023t0035 a0001c0003t0001 a0001c0012t0040 a0004c0023t0035	a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0066 others(1): Show a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0012t0040g0066 a0004c0023t0035g0067	4	378	0.0106	-12	c.878 others(29): Show c.878+6940_878+6951delTTTTTTTTTTTT		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN1_chr16_282440_357723	342343	TTCATTCT others(5): Show TTCATTCTTGAAG	T T	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0370 a0001c0001t0049g0370	1	378	0.0027	-12	c.878 others(29): Show c.878+3793_878+3804delCTTCAAGAATGA		AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10						chr16	TogoVar
AXIN2_chr17_65523563_65566648	65536436	ACGGGGGG others(5): Show ACGGGGGGTGGTG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp2 HG02630.hp2 HG02717.hp2 others(5): Show HG02055.hp2 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp2 NA18906.hp2	a0003 a0015 a0016 a0003 a0015 a0016	a0003c0009 a0015c0027 a0016c0028 a0003c0009 a0015c0027 a0016c0028	a0003c0009t0004 a0003c0009t0008 a0003c0009t0019 others(2): Show a0003c0009t0004 a0003c0009t0008 a0003c0009t0019 a0015c0027t0004 a0016c0028t0022	a0003c0009t0004g0063 a0003c0009t0004g0273 a0003c0009t0008g0057 others(4): Show a0003c0009t0004g0063 a0003c0009t0004g0273 a0003c0009t0008g0057 a0003c0009t0008g0322 a0003c0009t0019g0259 a0015c0027t0004g0152 a0016c0028t0022g0162	8	402	0.0199	-12	c.201 others(21): Show c.2013_2024delCACCACCCCCCG	p.Thr others(13): Show p.Thr672_Arg675del	AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	8/11	2339/4260	2013/2532	671/843			chr17	TogoVar
AXIN2_chr17_65523563_65566648	65538667	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02273.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG02273.hp2 HG02559.hp1 HG02922.hp2 HG03041.hp1 HG03486.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19063.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0012 a0001c0002 a0001c0003 a0002c0012	a0001c0002t0001 a0001c0003t0001 a0002c0012t0001 a0001c0002t0001 a0001c0003t0001 a0002c0012t0001	a0001c0002t0001g0052 a0001c0003t0001g0045 a0001c0003t0001g0067 others(6): Show a0001c0002t0001g0052 a0001c0003t0001g0045 a0001c0003t0001g0067 a0001c0003t0001g0198 a0001c0003t0001g0238 a0001c0003t0001g0249 a0001c0003t0001g0251 a0001c0003t0001g0312 a0002c0012t0001g0033	12	402	0.0299	-12	c.106 others(29): Show c.1060-336_1060-325delTTTTTTTTTTTT		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding	4/10						chr17	TogoVar
AXIN2_chr17_65523563_65566648	65564088	TCACACAC others(5): Show TCACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 NA19058.hp1 HG02257.hp2 NA19058.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0008 a0001c0002 a0002c0008	a0001c0002t0001 a0002c0008t0001 a0001c0002t0001 a0002c0008t0001	a0001c0002t0001g0170 a0002c0008t0001g0105 a0001c0002t0001g0170 a0002c0008t0001g0105	2	402	0.0050	-12	c.-27 others(23): Show c.-2767_-2756delTGTGTGTGTGTG		AXIN2	ENSG00000168646.14	transcript	ENST00000307078.10	protein_coding					2441		chr17	TogoVar
AXL_chr19_41214223_41266766	41235369	AATAGATA others(5): Show AATAGATAGATAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02145.hp1 HG02818.hp1 others(3): Show HG01496.hp1 HG02145.hp1 HG02818.hp1 HG03139.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0001t0056 a0001c0003t0009 a0001c0001t0012 a0001c0001t0056 a0001c0003t0009	a0001c0001t0012g0157 a0001c0001t0056g0229 a0001c0003t0009g0006 others(2): Show a0001c0001t0012g0157 a0001c0001t0056g0229 a0001c0003t0009g0006 a0001c0003t0009g0018 a0001c0003t0009g0019	6	314	0.0191	-12	c.784 others(29): Show c.784-2543_784-2532delGATAGATAGATA		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
AXL_chr19_41214223_41266766	41260298	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 HG02683.hp2 HG02683.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0049 a0001c0001t0038 a0001c0001t0049	a0001c0001t0038g0076 a0001c0001t0049g0190 a0001c0001t0038g0076 a0001c0001t0049g0190	2	314	0.0064	-12	c.41 others(21): Show c.414_*425delTTTTTTTTTTTT		AXL	ENSG00000167601.12	transcript	ENST00000301178.9	protein_coding	20/20				414	INFO_REALIGN_3_PRIME	chr19	TogoVar
AZI2_chr3_28316047_28353824	28342711	GCACACAC others(5): Show GCACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02818.hp1 HG01243.hp2 HG02258.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0026 a0001c0001t0013g0047 a0001c0001t0008g0026 a0001c0001t0013g0047	3	360	0.0083	-12	c.-5- others(27): Show c.-5-2101_-5-2090delTGTGTGTGTGTG		AZI2	ENSG00000163512.14	transcript	ENST00000479665.6	protein_coding	1/7						chr3	TogoVar
AZI2_chr3_28316047_28353824	28352126	GCACACAC others(5): Show GCACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0069 a0001c0001t0018g0069	1	360	0.0028	-12	c.-35 others(23): Show c.-3543_-3532delTGTGTGTGTGTG		AZI2	ENSG00000163512.14	transcript	ENST00000479665.6	protein_coding					3303		chr3	TogoVar
AZIN1_chr8_102821308_102869163	102822170	TCACACAC others(5): Show TCACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp1 HG02965.hp2 others(2): Show HG01884.hp1 HG02615.hp1 HG02965.hp2 HG03139.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0140 a0001c0001t0002g0228 a0001c0001t0009g0031 others(1): Show a0001c0001t0002g0140 a0001c0001t0002g0228 a0001c0001t0009g0031 a0001c0001t0009g0194	5	380	0.0132	-12	c.63 others(23): Show c.6385_*6396delTGTGTGTGTGTG		AZIN1	ENSG00000155096.15	transcript	ENST00000337198.10	protein_coding					4137		chr8	TogoVar
AZU1_chr19_822837_837018	830688	GACTCCAT others(5): Show GACTCCATTTCCT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	391	0.0026	-12	c.361 others(24): Show c.361-19_361-8delACTCCATTTCCT		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding	3/4						chr19	TogoVar
AZU1_chr19_822837_837018	833243	GATAATAA others(5): Show GATAATAATAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(5): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG01516.hp1 HG01517.hp2 HG02083.hp2 NA18947.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0004 a0001c0001t0001g0001 a0001c0002t0001g0004	8	391	0.0205	-12	c.13 others(23): Show c.1367_*1378delATAATAATAATA		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1226		chr19	TogoVar
AZU1_chr19_822837_837018	833269	TAATAATA others(5): Show TAATAATAATAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02976.hp2 HG00438.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0005 a0003c0006t0001g0023 a0001c0001t0001g0005 a0003c0006t0001g0023	2	391	0.0051	-12	c.13 others(23): Show c.1393_*1404delAATAATAATAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1252		chr19	TogoVar
AZU1_chr19_822837_837018	833272	TAATAATA others(5): Show TAATAATAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01943.hp2 NA18951.hp2 others(2): Show HG00558.hp2 HG01943.hp2 NA18951.hp2 NA19057.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0003t0001g0063	5	391	0.0128	-12	c.13 others(23): Show c.1396_*1407delAATAATAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1255		chr19	TogoVar
AZU1_chr19_822837_837018	833275	TAATAAGA others(5): Show TAATAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01070.hp1 HG01071.hp2 others(11): Show HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01975.hp2 HG02071.hp1 HG02273.hp1 HG02970.hp2 HG03139.hp1 HG03927.hp2 NA18945.hp2 NA18955.hp2 NA18964.hp2 NA19007.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0001g0002 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0003t0001g0018 a0001c0008t0001g0003 a0003c0006t0001g0023	14	391	0.0358	-12	c.13 others(23): Show c.1399_*1410delAATAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1258		chr19	TogoVar
AZU1_chr19_822837_837018	833278	TAAGAAGA others(5): Show TAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02145.hp2 HG02258.hp1 others(10): Show HG02056.hp2 HG02145.hp2 HG02258.hp1 HG02735.hp2 NA18747.hp1 NA18966.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19010.hp1 NA19079.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 others(2): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0003t0001g0068 a0001c0004t0001g0084	13	391	0.0333	-12	c.14 others(23): Show c.1402_*1413delAAGAAGAAGAAG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1261		chr19	TogoVar
AZU1_chr19_822837_837018	833309	AAGAAGAA others(5): Show AAGAAGAAGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02922.hp1 others(2): Show HG02486.hp2 HG02572.hp1 HG02922.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0014 a0001c0004t0001g0065 a0001c0004t0001g0066	5	391	0.0128	-12	c.14 others(23): Show c.1433_*1444delAGAAGAAGAAGG		AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding					1292		chr19	TogoVar
B2M_chr15_44706517_44723145	44721362	GACACACA others(5): Show GACACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01256.hp1 others(22): Show HG00099.hp2 HG00738.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG01517.hp1 HG02109.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02738.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG06807.hp2 NA18906.hp2 NA18961.hp1 NA19055.hp1 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0008 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0008 a0001c0001t0003g0003 a0001c0001t0003g0020 a0001c0001t0003g0021	25	385	0.0649	-12	c.37 others(23): Show c.3771_*3782delACACACACACAC		B2M	ENSG00000166710.23	transcript	ENST00000648006.3	protein_coding					3218		chr15	TogoVar
B3GALNT2_chr1_235442190_235509452	235449138	AAAGGGTT others(5): Show AAAGGGTTACTAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 NA18906.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0103 a0001c0001t0025g0104 a0001c0001t0025g0103 a0001c0001t0025g0104	2	344	0.0058	-12	c.10 others(23): Show c.1056_*1067delCTAGTAACCCTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	12/12				1056		chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235480905	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01496.hp1 others(4): Show HG01069.hp2 HG01070.hp2 HG01496.hp1 HG02523.hp2 HG03041.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0025 a0001c0001t0040	a0001c0001t0002g0015 a0001c0001t0009g0027 a0001c0001t0009g0072 others(4): Show a0001c0001t0002g0015 a0001c0001t0009g0027 a0001c0001t0009g0072 a0001c0001t0010g0008 a0001c0001t0025g0103 a0001c0001t0025g0104 a0001c0001t0040g0106	7	344	0.0204	-12	c.556 others(27): Show c.556-768_556-757delTTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	4/11						chr1	TogoVar
B3GALNT2_chr1_235442190_235509452	235498843	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02723.hp2 HG03225.hp1 others(1): Show HG01243.hp1 HG02723.hp2 HG03225.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0031 a0001c0001t0047 a0001c0001t0016 a0001c0001t0031 a0001c0001t0047	a0001c0001t0016g0098 a0001c0001t0016g0102 a0001c0001t0031g0016 others(1): Show a0001c0001t0016g0098 a0001c0001t0016g0102 a0001c0001t0031g0016 a0001c0001t0047g0101	4	344	0.0116	-12	c.113 others(29): Show c.113-4027_113-4016delTTTTTTTTTTTT		B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	1/11						chr1	TogoVar

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