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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DYRK1A_chr21_37361773_37531358	37440130	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00639.hp1 others(9): Show HG00099.hp1 HG00280.hp2 HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01169.hp2 HG02015.hp2 HG02165.hp2 HG03831.hp2 NA19003.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0037 a0001c0001t0069 a0001c0001t0095 a0001c0001t0116 a0001c0001t0118	a0001c0001t0001g0082 a0001c0001t0004g0222 a0001c0001t0011g0003 others(8): Show a0001c0001t0001g0082 a0001c0001t0004g0222 a0001c0001t0011g0003 a0001c0001t0011g0337 a0001c0001t0011g0338 a0001c0001t0011g0341 a0001c0001t0037g0133 a0001c0001t0069g0031 a0001c0001t0095g0084 a0001c0001t0116g0339 a0001c0001t0118g0340	12	350	0.0343	5	c.10+ others(22): Show c.10+19765_10+19769dupTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37454085	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01952.hp1 others(20): Show HG01081.hp1 HG01081.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp1 HG02074.hp2 HG02165.hp2 HG02293.hp2 HG02451.hp1 HG02976.hp2 HG03041.hp1 HG03239.hp1 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA18943.hp1 NA18980.hp2 NA19007.hp2 NA19064.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0001t0037 a0001c0001t0047 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0130 a0001c0002t0028 a0001c0002t0074	a0001c0001t0003g0152 a0001c0001t0004g0179 a0001c0001t0004g0220 others(20): Show a0001c0001t0003g0152 a0001c0001t0004g0179 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0223 a0001c0001t0010g0332 a0001c0001t0010g0334 a0001c0001t0010g0336 a0001c0001t0017g0203 a0001c0001t0018g0294 a0001c0001t0035g0194 a0001c0001t0037g0133 a0001c0001t0037g0248 a0001c0001t0047g0012 a0001c0001t0117g0213 a0001c0001t0119g0199 a0001c0001t0120g0215 a0001c0001t0123g0005 a0001c0001t0124g0224 a0001c0001t0125g0226 a0001c0001t0130g0217 a0001c0002t0028g0328 a0001c0002t0074g0330	23	350	0.0657	5	c.11- others(22): Show c.11-18578_11-18574dupTTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37476818	T T	TCCCCC TCCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00609.hp2 others(11): Show HG00423.hp2 HG00558.hp2 HG00609.hp2 HG01074.hp1 HG01106.hp2 HG01981.hp2 HG02165.hp2 NA18955.hp2 NA18964.hp1 NA18972.hp2 NA18974.hp2 NA18995.hp2 NA19066.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 others(6): Show a0001c0001t0007 a0001c0001t0015 a0001c0001t0021 a0001c0001t0037 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149	a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0139 others(11): Show a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0007g0144 a0001c0001t0007g0146 a0001c0001t0015g0258 a0001c0001t0021g0243 a0001c0001t0037g0133 a0001c0001t0145g0142 a0001c0001t0146g0138 a0001c0001t0147g0143 a0001c0001t0148g0145 a0001c0001t0149g0136	14	350	0.0400	5	c.208 others(22): Show c.208-1382_208-1378dupCCCCC	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK2_chr12_67643745_67670406	67644033	C C	CTTTTT CTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp2 others(104): Show HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01515.hp1 HG01928.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18960.hp2 NA18962.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0043 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0014 a0001c0002t0030 a0001c0002t0033 a0001c0002t0039 a0001c0002t0040 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0003t0015 a0001c0003t0016 a0001c0003t0022	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0002g0004 a0001c0001t0011g0024 a0001c0001t0043g0048 a0001c0002t0002g0001 a0001c0002t0003g0001 a0001c0002t0003g0014 a0001c0002t0003g0049 a0001c0002t0003g0053 a0001c0002t0008g0001 a0001c0002t0009g0001 a0001c0002t0009g0021 a0001c0002t0012g0001 a0001c0002t0014g0010 a0001c0002t0030g0001 a0001c0002t0033g0025 a0001c0002t0039g0010 a0001c0002t0040g0010 a0001c0002t0044g0044 a0001c0002t0046g0001 a0001c0002t0047g0052 a0001c0002t0049g0001 a0001c0003t0015g0007 a0001c0003t0016g0007 a0001c0003t0022g0007	107	390	0.2744	5	c.-51 others(16): Show c.-5101_-5100insTTTTT	DYRK2	ENSG00000127334.11	transcript	ENST00000344096.4	protein_coding		4711		chr12	TogoVar
DYRK2_chr12_67643745_67670406	67647215	G G	GTGTTT GTGTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01069.hp1 HG01243.hp2 others(9): Show HG00642.hp2 HG01069.hp1 HG01243.hp2 HG01516.hp1 HG01517.hp2 HG02258.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG03209.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0002t0004 a0001c0002t0044 others(4): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0044 a0001c0003t0015 a0001c0003t0022 a0001c0003t0051 a0002c0004t0004	a0001c0001t0002g0003 a0001c0002t0004g0006 a0001c0002t0044g0044 others(5): Show a0001c0001t0002g0003 a0001c0002t0004g0006 a0001c0002t0044g0044 a0001c0003t0015g0007 a0001c0003t0022g0007 a0001c0003t0022g0055 a0001c0003t0051g0054 a0002c0004t0004g0006	12	390	0.0308	5	c.-19 others(16): Show c.-1919_-1918insTGTTT	DYRK2	ENSG00000127334.11	transcript	ENST00000344096.4	protein_coding		1529		chr12	TogoVar
DYRK4_chr12_4557208_4618875	4605728	G G	GTTTTT GTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18967.hp1 NA18990.hp2 NA18953.hp2 NA18967.hp1 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0233 a0001c0004t0001g0172 a0001c0004t0001g0208 a0001c0002t0001g0233 a0001c0004t0001g0172 a0001c0004t0001g0208	3	414	0.0073	5	c.129 others(22): Show c.1299+642_1299+643insTTTTT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	11/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71493851	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp2 HG03041.hp1 others(3): Show HG00738.hp2 HG02615.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp2 NA19009.hp2	a0001 a0003 a0019 a0001 a0003 a0019	a0001c0001 a0001c0007 a0001c0079 others(2): Show a0001c0001 a0001c0007 a0001c0079 a0003c0062 a0019c0061	a0001c0001t0001 a0001c0007t0002 a0001c0079t0002 others(2): Show a0001c0001t0001 a0001c0007t0002 a0001c0079t0002 a0003c0062t0001 a0019c0061t0001	a0001c0001t0001g0098 a0001c0007t0002g0014 a0001c0007t0002g0016 others(3): Show a0001c0001t0001g0098 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0079t0002g0022 a0003c0062t0001g0102 a0019c0061t0001g0128	6	192	0.0313	5	c.237 others(22): Show c.237-9344_237-9340dupAAAAA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	3/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71537217	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00738.hp1 others(31): Show HG00140.hp1 HG00642.hp1 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01433.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02109.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02683.hp2 HG02698.hp2 HG02965.hp2 HG03017.hp1 HG03239.hp1 HG03704.hp1 HG04204.hp1 HG04228.hp2 NA18946.hp2 NA18947.hp1 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA19068.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0013 a0016 others(2): Show a0001 a0013 a0016 a0023 a0024	a0001c0001 a0001c0003 a0001c0004 others(11): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0013c0035 a0016c0036 a0023c0032 a0024c0029	a0001c0001t0001 a0001c0003t0001 a0001c0004t0003 others(13): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0001c0014t0001 a0001c0020t0001 a0013c0035t0001 a0016c0036t0001 a0023c0032t0001 a0024c0029t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 others(31): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0175 a0001c0003t0001g0066 a0001c0003t0001g0076 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0111 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0121 a0001c0003t0001g0131 a0001c0003t0001g0157 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0029 a0001c0005t0001g0140 a0001c0005t0002g0146 a0001c0005t0002g0152 a0001c0006t0001g0070 a0001c0006t0001g0138 a0001c0006t0002g0153 a0001c0011t0001g0075 a0001c0011t0001g0171 a0001c0012t0001g0071 a0001c0013t0001g0083 a0001c0014t0001g0109 a0001c0020t0001g0080 a0001c0020t0001g0085 a0013c0035t0001g0051 a0016c0036t0001g0118 a0023c0032t0001g0191 a0024c0029t0001g0104	34	192	0.1771	5	c.139 others(24): Show c.1397+1912_1397+1916dupGTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	15/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71582106	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00609.hp2 others(16): Show HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG01255.hp1 HG02004.hp2 HG02258.hp2 HG02630.hp2 HG02683.hp1 NA18947.hp1 NA18948.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18994.hp1 NA19068.hp2 NA19085.hp1 NA20300.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0001c0017 a0001c0049 a0019c0061	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0011t0001 a0001c0017t0001 a0001c0049t0002 a0019c0061t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0073 others(16): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0110 a0001c0001t0001g0192 a0001c0001t0002g0176 a0001c0001t0002g0182 a0001c0001t0003g0099 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0124 a0001c0006t0001g0070 a0001c0011t0001g0171 a0001c0017t0001g0034 a0001c0049t0002g0178 a0019c0061t0001g0128	19	192	0.0990	5	c.334 others(24): Show c.3349-7464_3349-7460dupAAAAA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	30/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71493851	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02615.hp2 HG03041.hp1 others(2): Show HG00738.hp2 HG02615.hp2 HG03041.hp1 HG03041.hp2 HG03225.hp1	a0001 a0003 a0021 a0001 a0003 a0021	a0001c0007 a0001c0085 a0003c0065 others(1): Show a0001c0007 a0001c0085 a0003c0065 a0021c0064	a0001c0007t0004 a0001c0085t0001 a0003c0065t0001 others(1): Show a0001c0007t0004 a0001c0085t0001 a0003c0065t0001 a0021c0064t0001	a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0085t0001g0029 others(2): Show a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0085t0001g0029 a0003c0065t0001g0110 a0021c0064t0001g0058	5	208	0.0240	5	c.240 others(22): Show c.240-9344_240-9340dupAAAAA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	3/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71537217	A A	AGTTTT AGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp2 HG00738.hp1 others(35): Show HG00140.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01433.hp1 HG01884.hp1 HG01934.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp2 HG03669.hp1 HG03704.hp1 HG04204.hp2 HG04228.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18962.hp1 NA18971.hp2 NA18973.hp1 NA19010.hp2 NA19068.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0017 others(2): Show a0001 a0005 a0017 a0025 a0026	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0014 a0001c0020 a0001c0061 a0005c0034 a0005c0035 a0017c0038 a0025c0033 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0014t0001 a0001c0020t0001 a0001c0061t0002 a0005c0034t0002 a0005c0035t0001 a0017c0038t0001 a0025c0033t0002 a0026c0030t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 others(35): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0002g0183 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0039 a0001c0003t0001g0055 a0001c0003t0001g0065 a0001c0003t0001g0076 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0002g0161 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0005t0001g0074 a0001c0005t0001g0092 a0001c0005t0001g0143 a0001c0005t0002g0177 a0001c0006t0001g0072 a0001c0006t0001g0121 a0001c0006t0002g0151 a0001c0008t0001g0126 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0009t0001g0064 a0001c0014t0001g0004 a0001c0020t0001g0131 a0001c0020t0001g0132 a0001c0061t0002g0001 a0005c0034t0002g0153 a0005c0035t0001g0122 a0017c0038t0001g0015 a0025c0033t0002g0152 a0026c0030t0001g0016	38	208	0.1827	5	c.149 others(24): Show c.1493+1912_1493+1916dupGTTTT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	16/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71582106	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00738.hp1 others(20): Show HG00558.hp1 HG00558.hp2 HG00738.hp1 HG00738.hp2 HG01167.hp2 HG01255.hp1 HG02004.hp1 HG02258.hp1 HG02630.hp2 HG02683.hp2 HG03669.hp2 NA18947.hp2 NA18948.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA19010.hp2 NA19068.hp2 NA19085.hp2 NA20300.hp1	a0001 a0019 a0021 a0001 a0019 a0021	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0017 a0001c0018 a0001c0051 a0019c0049 a0021c0064	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0008t0001 a0001c0008t0002 a0001c0017t0001 a0001c0018t0001 a0001c0051t0002 a0019c0049t0001 a0021c0064t0001	a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0108 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0203 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0184 a0001c0001t0003g0059 a0001c0002t0001g0102 a0001c0006t0001g0121 a0001c0008t0001g0109 a0001c0008t0002g0157 a0001c0008t0002g0178 a0001c0017t0001g0133 a0001c0018t0001g0088 a0001c0051t0002g0195 a0019c0049t0001g0104 a0021c0064t0001g0058	23	208	0.1106	5	c.340 others(24): Show c.3403-7464_3403-7460dupAAAAA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	30/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DZANK1_chr20_18378367_18472030	18392785	G G	GAAACC GAAACC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00642.hp1 others(76): Show HG00140.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02074.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18943.hp2 NA18949.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp2 NA18965.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19012.hp1 NA19064.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp2	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0009 a0011	a0001c0001 a0001c0007 a0003c0016 others(3): Show a0001c0001 a0001c0007 a0003c0016 a0007c0011 a0009c0019 a0011c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0007t0002 a0003c0016t0002 a0007c0011t0007 a0009c0019t0002 a0011c0021t0002	a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 others(73): Show a0001c0001t0001g0285 a0001c0001t0001g0293 a0001c0001t0001g0333 a0001c0001t0002g0026 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0261 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0011g0275 a0001c0007t0002g0011 a0001c0007t0002g0139 a0001c0007t0002g0140 a0001c0007t0002g0228 a0001c0007t0002g0229 a0003c0016t0002g0206 a0003c0016t0002g0271 a0007c0011t0007g0004 a0007c0011t0007g0029 a0009c0019t0002g0304 a0009c0019t0002g0329 a0011c0021t0002g0182	79	374	0.2112	5	c.188 others(22): Show c.1884+921_1884+925dupGGTTT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	17/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18409583	C C	CACACA CACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG01106.hp1 others(8): Show HG00639.hp1 HG00733.hp1 HG01106.hp1 HG01891.hp2 HG02258.hp1 HG03471.hp2 HG03669.hp2 HG03704.hp1 NA18984.hp1 NA19076.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0282 a0001c0001t0002g0299 others(7): Show a0001c0001t0002g0026 a0001c0001t0002g0282 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321	11	374	0.0294	5	c.150 others(24): Show c.1507+3062_1507+3063insTGTGT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	13/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18422799	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(93): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02486.hp2 HG02723.hp2 HG02738.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18959.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19075.hp2 NA19078.hp2 NA19083.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0012 a0016	a0001c0001 a0001c0007 a0002c0004 others(7): Show a0001c0001 a0001c0007 a0002c0004 a0002c0005 a0002c0022 a0003c0003 a0004c0027 a0005c0008 a0012c0026 a0016c0023	a0001c0001t0001 a0001c0007t0003 a0002c0004t0001 others(13): Show a0001c0001t0001 a0001c0007t0003 a0002c0004t0001 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0015 a0002c0005t0001 a0002c0005t0003 a0002c0022t0001 a0003c0003t0001 a0004c0027t0008 a0005c0008t0001 a0005c0008t0003 a0012c0026t0003 a0016c0023t0001	a0001c0001t0001g0285 a0001c0007t0003g0342 a0002c0004t0001g0034 others(85): Show a0001c0001t0001g0285 a0001c0007t0003g0342 a0002c0004t0001g0034 a0002c0004t0001g0041 a0002c0004t0001g0043 a0002c0004t0001g0044 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0054 a0002c0004t0001g0072 a0002c0004t0001g0082 a0002c0004t0001g0096 a0002c0004t0001g0248 a0002c0004t0003g0005 a0002c0004t0003g0006 a0002c0004t0003g0033 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0004t0003g0040 a0002c0004t0003g0042 a0002c0004t0003g0045 a0002c0004t0003g0048 a0002c0004t0003g0051 a0002c0004t0003g0052 a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0057 a0002c0004t0003g0061 a0002c0004t0003g0071 a0002c0004t0003g0073 a0002c0004t0003g0074 a0002c0004t0003g0075 a0002c0004t0003g0079 a0002c0004t0003g0080 a0002c0004t0003g0081 a0002c0004t0003g0086 a0002c0004t0003g0087 a0002c0004t0003g0090 a0002c0004t0003g0095 a0002c0004t0003g0295 a0002c0004t0008g0286 a0002c0004t0014g0284 a0002c0004t0015g0039 a0002c0005t0001g0007 a0002c0005t0001g0008 a0002c0005t0001g0015 a0002c0005t0001g0115 a0002c0005t0001g0116 a0002c0005t0001g0120 a0002c0005t0001g0121 a0002c0005t0001g0123 a0002c0005t0001g0124 a0002c0005t0001g0125 a0002c0005t0001g0127 a0002c0005t0001g0128 a0002c0005t0001g0129 a0002c0005t0001g0132 a0002c0005t0001g0133 a0002c0005t0001g0134 a0002c0005t0001g0135 a0002c0005t0001g0151 a0002c0005t0001g0154 a0002c0005t0001g0180 a0002c0005t0001g0181 a0002c0005t0001g0188 a0002c0005t0001g0190 a0002c0005t0001g0191 a0002c0005t0001g0192 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0195 a0002c0005t0001g0240 a0002c0005t0003g0122 a0002c0005t0003g0144 a0002c0005t0003g0230 a0002c0005t0003g0239 a0002c0022t0001g0130 a0003c0003t0001g0184 a0004c0027t0008g0235 a0005c0008t0001g0002 a0005c0008t0001g0231 a0005c0008t0001g0263 a0005c0008t0001g0264 a0005c0008t0001g0265 a0005c0008t0001g0266 a0005c0008t0003g0207 a0012c0026t0003g0187 a0016c0023t0001g0131	96	374	0.2567	5	c.101 others(24): Show c.1011+4263_1011+4267dupAAAAA	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	10/20			chr20	TogoVar
DZANK1_chr20_18378367_18472030	18426051	C C	CAATCA CAATCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01358.hp2 HG01934.hp1 others(2): Show HG00621.hp2 HG01358.hp2 HG01934.hp1 NA18992.hp2 NA19004.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0007 a0007c0011t0007	a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 others(1): Show a0007c0011t0007g0004 a0007c0011t0007g0028 a0007c0011t0007g0029 a0007c0011t0007g0030	5	374	0.0134	5	c.101 others(24): Show c.1011+1015_1011+1016insTGATT	DZANK1	ENSG00000089091.17	transcript	ENST00000699568.1	protein_coding	10/20			chr20	TogoVar
DZIP3_chr3_108584722_108699840	108658038	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01074.hp2 others(8): Show HG00099.hp2 HG00639.hp1 HG01074.hp2 HG01516.hp1 HG01993.hp1 HG02145.hp2 HG02602.hp1 HG02683.hp2 HG03710.hp2 HG03927.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 others(8): Show a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234	11	318	0.0346	5	c.219 others(24): Show c.2199+3729_2199+3730insTTTTT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108691118	C C	CTCTTA CTCTTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG01891.hp2 others(4): Show HG01106.hp1 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp2	a0001 a0006 a0001 a0006	a0001c0004 a0006c0014 a0001c0004 a0006c0014	a0001c0004t0004 a0001c0004t0010 a0001c0004t0015 others(1): Show a0001c0004t0004 a0001c0004t0010 a0001c0004t0015 a0006c0014t0004	a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 others(4): Show a0001c0004t0004g0012 a0001c0004t0004g0013 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0010g0010 a0001c0004t0015g0016 a0006c0014t0004g0011	7	318	0.0220	5	c.6+ others(18): Show c.6+216_*6+220dupTCTTA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	32/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108697439	T T	TAAAAA TAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01081.hp2 HG01258.hp2 others(31): Show HG00597.hp2 HG01081.hp2 HG01258.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02055.hp1 HG02148.hp2 HG02293.hp1 HG02486.hp2 HG02723.hp1 HG02738.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18951.hp2 NA18956.hp2 NA18970.hp2 NA18978.hp2 NA18993.hp1 NA19005.hp1 NA20905.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0001c0015 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0011 a0001c0004t0004 a0001c0004t0010 a0001c0013t0001 a0001c0015t0001 a0007c0012t0001	a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0079 others(31): Show a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0002t0001g0004 a0001c0002t0001g0222 a0001c0002t0001g0228 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0249 a0001c0002t0001g0251 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0011g0253 a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0010g0010 a0001c0013t0001g0264 a0001c0015t0001g0256 a0007c0012t0001g0004	34	318	0.1069	5	c.40 others(16): Show c.4086_*4087insAAAAA	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding		2600		chr3	TogoVar
E2F2_chr1_23501438_23536233	23520243	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01891.hp2 others(4): Show HG01071.hp2 HG01109.hp1 HG01891.hp2 HG02258.hp1 HG02280.hp2 HG02970.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 others(1): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015	a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0051 others(4): Show a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0051 a0001c0001t0009g0325 a0001c0001t0012g0040 a0001c0001t0015g0329 a0001c0001t0015g0330	7	396	0.0177	5	c.737 others(20): Show c.737+665_737+669dupTTTTT	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding	4/6			chr1	TogoVar
E2F2_chr1_23501438_23536233	23531350	A A	ACCCCC ACCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00621.hp1 HG01109.hp1 others(21): Show HG00544.hp1 HG00621.hp1 HG01109.hp1 HG01175.hp2 HG01257.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp2 HG03654.hp2 HG03710.hp1 HG03942.hp1 HG03942.hp2 NA18952.hp1 NA18979.hp1 NA19079.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0002c0002t0001	a0001c0001t0001g0312 a0001c0001t0002g0132 a0001c0001t0002g0157 others(21): Show a0001c0001t0001g0312 a0001c0001t0002g0132 a0001c0001t0002g0157 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0027 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0004g0278 a0001c0001t0006g0316 a0001c0001t0009g0326 a0001c0001t0009g0328 a0001c0001t0012g0040 a0001c0001t0015g0329 a0001c0001t0015g0330 a0002c0002t0001g0141 a0002c0002t0001g0273 a0002c0002t0001g0274	24	396	0.0606	5	c.-55 others(14): Show c.-558_-557insGGGGG	E2F2	ENSG00000007968.7	transcript	ENST00000361729.3	protein_coding		118		chr1	TogoVar
E2F3_chr6_20396879_20498714	20488994	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02258.hp1 others(6): Show HG01496.hp1 HG01884.hp1 HG02258.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0001t0001g0127 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0027g0309	9	336	0.0268	5	c.113 others(22): Show c.1135+765_1135+769dupAGAAA	E2F3	ENSG00000112242.16	transcript	ENST00000346618.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
E2F5_chr8_85172154_85219518	85213542	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01099.hp2 HG01496.hp1 others(21): Show HG00673.hp2 HG01099.hp2 HG01496.hp1 HG02080.hp1 HG02273.hp2 HG02647.hp1 HG02922.hp2 HG03139.hp1 NA18946.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19056.hp2 NA19058.hp2 NA19068.hp2 NA19086.hp2 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0001c0001t0001 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0084 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0002t0001g0168 a0001c0002t0001g0182 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0294 a0003c0006t0001g0152	24	336	0.0714	5	c.932 others(20): Show c.932-196_932-192dupAAAAA	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11463948	C C	CGGGGG CGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(77): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01109.hp2 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01516.hp2 HG01928.hp2 HG01952.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18961.hp1 NA18964.hp2 NA18968.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19010.hp1 NA19058.hp2 NA19068.hp1 NA19070.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0047 others(40): Show a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0188 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0026 a0001c0001t0002g0061 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0208 a0001c0001t0004g0050 a0001c0001t0011g0041 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0014g0152	80	366	0.2186	5	c.108 others(22): Show c.108+1819_108+1823dupCCCCC	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	1/6			chr2	TogoVar
E2F6_chr2_11439375_11471161	11467571	G G	GTTTTA GTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(223): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(136): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0002g0082 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0208 a0001c0001t0003g0008 a0001c0001t0003g0034 a0001c0001t0003g0079 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0121 a0001c0001t0003g0127 a0001c0001t0003g0140 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0006g0010 a0001c0001t0006g0139 a0001c0001t0007g0052 a0001c0001t0007g0081 a0001c0001t0007g0084 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0008g0059 a0001c0001t0009g0053 a0001c0001t0009g0054 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0011g0041 a0001c0001t0012g0153 a0001c0001t0012g0154 a0001c0001t0013g0166 a0001c0001t0014g0152 a0001c0001t0016g0178	226	366	0.6175	5	c.-16 others(16): Show c.-1693_-1692insTAAAA	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		1411		chr2	TogoVar
EAF1_chr3_15422598_15447613	15428617	G G	GCAGGC GCAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG02886.hp1 others(11): Show HG01884.hp2 HG02622.hp2 HG02886.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 others(6): Show a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0041 a0001c0005t0017 a0001c0005t0021	a0001c0001t0025g0023 a0001c0001t0026g0047 a0001c0001t0026g0048 others(8): Show a0001c0001t0025g0023 a0001c0001t0026g0047 a0001c0001t0026g0048 a0001c0001t0028g0046 a0001c0001t0035g0045 a0001c0001t0036g0023 a0001c0001t0037g0044 a0001c0001t0041g0049 a0001c0005t0017g0017 a0001c0005t0017g0043 a0001c0005t0021g0017	14	418	0.0335	5	c.103 others(20): Show c.103+736_103+740dupCAGGC	EAF1	ENSG00000144597.14	transcript	ENST00000396842.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121845459	A A	AAAAAG AAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00597.hp2 others(127): Show HG00323.hp1 HG00423.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18941.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp2 NA19054.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp1 NA19067.hp2 NA19072.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0003 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0001c0007t0001 a0002c0003t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0106 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0237 a0001c0001t0003g0068 a0001c0004t0001g0035 a0001c0007t0001g0200 a0002c0003t0001g0197 a0002c0003t0001g0206 a0004c0006t0001g0030	130	318	0.4088	5	c.201 others(20): Show c.201+915_201+916insAGAAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121845459	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG03486.hp2 HG02055.hp2 HG02818.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0192 a0001c0001t0001g0240 a0001c0001t0001g0242	3	318	0.0094	5	c.201 others(20): Show c.201+912_201+913insGAAAG	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	2/5			chr3	TogoVar
EAF2_chr3_121830209_121891526	121865291	G G	GGTTAA GGTTAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG01074.hp1 others(53): Show HG00423.hp1 HG00673.hp2 HG01074.hp1 HG01109.hp1 HG01256.hp1 HG01433.hp2 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp2 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18971.hp1 NA18975.hp2 NA18984.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp1 NA19005.hp2 NA19056.hp1 NA19066.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(46): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0003g0068 a0001c0002t0001g0118 a0001c0002t0001g0144	56	318	0.1761	5	c.485 others(22): Show c.485-7245_485-7241dupGTTAA	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAF2_chr3_121830209_121891526	121871169	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02559.hp1 NA20129.hp1 HG01069.hp2 HG02559.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0168 a0001c0001t0001g0018 a0001c0001t0001g0168	3	318	0.0094	5	c.485 others(22): Show c.485-1348_485-1344dupAATAT	EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
EAPP_chr14_34510938_34544701	34518325	A A	ATTTTT ATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp2 others(8): Show HG01891.hp1 HG02109.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG03041.hp2 HG04115.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0001 a0002c0003t0003	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 others(7): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0002c0003t0001g0063 a0002c0003t0001g0066 a0002c0003t0001g0137 a0002c0003t0003g0014 a0002c0003t0003g0035	11	360	0.0306	5	c.582 others(22): Show c.582-1744_582-1740dupAAAAA	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding	5/5			chr14	TogoVar
EAPP_chr14_34510938_34544701	34542793	T T	TAAATA TAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01255.hp1 others(16): Show HG00733.hp2 HG01070.hp2 HG01255.hp1 HG01255.hp2 HG02132.hp2 HG02145.hp2 HG02615.hp1 HG03710.hp2 HG04199.hp1 HG06807.hp2 NA18942.hp2 NA18954.hp2 NA18991.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0019 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076	19	360	0.0528	5	c.-31 others(16): Show c.-3166_-3165insTATTT	EAPP	ENSG00000129518.10	transcript	ENST00000250454.8	protein_coding		3093		chr14	TogoVar
EBAG9_chr8_109535173_109570996	109543135	C C	CTTTTT CTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG01169.hp1 others(7): Show HG00423.hp2 HG00639.hp2 HG01169.hp1 HG01952.hp2 HG02132.hp1 HG02738.hp2 HG03195.hp2 NA18951.hp1 NA18954.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0170 a0001c0001t0002g0072 a0001c0001t0002g0073 others(6): Show a0001c0001t0001g0170 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0003g0046 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171	10	356	0.0281	5	c.-16 others(22): Show c.-16+2701_-16+2705dupTTTTT	EBAG9	ENSG00000147654.16	transcript	ENST00000337573.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
EBF1_chr5_158690920_159104916	158690949	C C	CAGAGA CAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02559.hp2 others(3): Show HG01884.hp2 HG02145.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0066 a0001c0001t0067 others(3): Show a0001c0001t0030 a0001c0001t0066 a0001c0001t0067 a0001c0001t0078 a0001c0001t0079 a0001c0001t0093	a0001c0001t0030g0004 a0001c0001t0066g0077 a0001c0001t0067g0074 others(3): Show a0001c0001t0030g0004 a0001c0001t0066g0077 a0001c0001t0067g0074 a0001c0001t0078g0152 a0001c0001t0079g0149 a0001c0001t0093g0195	6	196	0.0306	5	c.81 others(16): Show c.8161_*8162insTCTCT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding		4970		chr5	TogoVar
EBF1_chr5_158690920_159104916	158838891	A A	AGCCAT AGCCAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(132): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18963.hp1 NA18966.hp2 NA18969.hp2 NA19009.hp2 NA19030.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(75): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0056 a0001c0001t0058 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0079 a0001c0001t0085 a0001c0001t0086 a0001c0001t0088 a0001c0001t0090 a0001c0001t0093 a0001c0001t0095 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0002t0017 a0001c0002t0018 a0001c0002t0026 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0038 a0001c0002t0041 a0001c0002t0048 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0064 a0001c0002t0076 a0001c0002t0081 a0001c0002t0083 a0001c0002t0084 a0001c0002t0089 a0001c0002t0091 a0001c0004t0004 a0002c0003t0046	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0136 others(132): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0175 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0005g0157 a0001c0001t0006g0018 a0001c0001t0007g0061 a0001c0001t0007g0066 a0001c0001t0008g0183 a0001c0001t0008g0184 a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0189 a0001c0001t0009g0073 a0001c0001t0009g0080 a0001c0001t0010g0065 a0001c0001t0010g0078 a0001c0001t0010g0081 a0001c0001t0011g0096 a0001c0001t0011g0102 a0001c0001t0011g0144 a0001c0001t0012g0021 a0001c0001t0015g0034 a0001c0001t0015g0035 a0001c0001t0016g0036 a0001c0001t0018g0085 a0001c0001t0020g0098 a0001c0001t0021g0117 a0001c0001t0021g0160 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0023g0097 a0001c0001t0024g0174 a0001c0001t0026g0163 a0001c0001t0027g0104 a0001c0001t0027g0169 a0001c0001t0029g0005 a0001c0001t0030g0004 a0001c0001t0031g0007 a0001c0001t0033g0003 a0001c0001t0039g0030 a0001c0001t0045g0031 a0001c0001t0047g0039 a0001c0001t0049g0044 a0001c0001t0056g0048 a0001c0001t0058g0051 a0001c0001t0067g0074 a0001c0001t0068g0062 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0001t0071g0064 a0001c0001t0072g0069 a0001c0001t0073g0068 a0001c0001t0077g0088 a0001c0001t0079g0149 a0001c0001t0085g0164 a0001c0001t0086g0154 a0001c0001t0088g0190 a0001c0001t0090g0188 a0001c0001t0093g0195 a0001c0001t0095g0196 a0001c0002t0001g0095 a0001c0002t0001g0109 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0131 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0145 a0001c0002t0001g0158 a0001c0002t0001g0161 a0001c0002t0001g0170 a0001c0002t0002g0089 a0001c0002t0002g0173 a0001c0002t0003g0090 a0001c0002t0003g0093 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0003g0130 a0001c0002t0003g0151 a0001c0002t0005g0115 a0001c0002t0005g0122 a0001c0002t0005g0128 a0001c0002t0005g0143 a0001c0002t0005g0165 a0001c0002t0006g0015 a0001c0002t0006g0017 a0001c0002t0006g0020 a0001c0002t0006g0022 a0001c0002t0006g0025 a0001c0002t0007g0059 a0001c0002t0007g0076 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0009g0079 a0001c0002t0012g0023 a0001c0002t0013g0001 a0001c0002t0013g0002 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0017g0037 a0001c0002t0017g0041 a0001c0002t0018g0086 a0001c0002t0026g0103 a0001c0002t0034g0008 a0001c0002t0035g0016 a0001c0002t0036g0012 a0001c0002t0038g0014 a0001c0002t0041g0028 a0001c0002t0048g0032 a0001c0002t0059g0052 a0001c0002t0060g0053 a0001c0002t0061g0055 a0001c0002t0062g0054 a0001c0002t0064g0056 a0001c0002t0076g0087 a0001c0002t0081g0140 a0001c0002t0083g0118 a0001c0002t0084g0111 a0001c0002t0089g0187 a0001c0002t0091g0182 a0001c0004t0004g0171 a0002c0003t0046g0033	135	196	0.6888	5	c.636 others(22): Show c.636+1133_636+1137dupATGGC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	7/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158852039	G G	GGAGGA GGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(41): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02273.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG04184.hp2 NA18906.hp1 NA18906.hp2 NA19068.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0001t0039 a0001c0001t0045 a0001c0001t0058 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0077 a0001c0001t0086 a0001c0001t0088 a0001c0001t0093 a0001c0001t0095 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0014 a0001c0002t0036 a0001c0002t0064	a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0136 others(41): Show a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0180 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0155 a0001c0001t0003g0105 a0001c0001t0003g0148 a0001c0001t0009g0080 a0001c0001t0011g0096 a0001c0001t0012g0021 a0001c0001t0015g0034 a0001c0001t0015g0035 a0001c0001t0016g0036 a0001c0001t0018g0085 a0001c0001t0021g0160 a0001c0001t0022g0099 a0001c0001t0022g0124 a0001c0001t0023g0097 a0001c0001t0027g0104 a0001c0001t0039g0030 a0001c0001t0045g0031 a0001c0001t0058g0051 a0001c0001t0068g0062 a0001c0001t0069g0071 a0001c0001t0070g0075 a0001c0001t0072g0069 a0001c0001t0077g0088 a0001c0001t0086g0154 a0001c0001t0088g0190 a0001c0001t0093g0195 a0001c0001t0095g0196 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0145 a0001c0002t0003g0108 a0001c0002t0003g0126 a0001c0002t0006g0022 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0036g0012 a0001c0002t0064g0056	44	196	0.2245	5	c.555 others(24): Show c.555-11930_555-11929insTCCTC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158909956	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(15): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG01069.hp1 HG01074.hp1 HG01109.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03516.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 others(11): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0021 a0001c0001t0052 a0001c0001t0063 a0001c0001t0086 a0001c0001t0094 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0018 a0001c0002t0026 a0001c0002t0061 a0001c0002t0089	a0001c0001t0001g0116 a0001c0001t0020g0166 a0001c0001t0021g0160 others(15): Show a0001c0001t0001g0116 a0001c0001t0020g0166 a0001c0001t0021g0160 a0001c0001t0052g0045 a0001c0001t0063g0057 a0001c0001t0086g0154 a0001c0001t0094g0194 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0002g0089 a0001c0002t0014g0009 a0001c0002t0014g0010 a0001c0002t0018g0086 a0001c0002t0026g0103 a0001c0002t0061g0055 a0001c0002t0089g0187	18	196	0.0918	5	c.555 others(24): Show c.555-69851_555-69847dupTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158940763	G G	GCCCCC GCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00738.hp2 others(13): Show HG00408.hp2 HG00544.hp2 HG00738.hp2 HG01074.hp1 HG01106.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp1 HG02055.hp2 HG02723.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp1 NA18966.hp1 NA18969.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0044 a0001c0001t0072 a0001c0001t0087 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0026 a0001c0002t0034 a0001c0002t0060 a0001c0002t0064 a0001c0002t0076	a0001c0001t0001g0136 a0001c0001t0008g0185 a0001c0001t0010g0082 others(13): Show a0001c0001t0001g0136 a0001c0001t0008g0185 a0001c0001t0010g0082 a0001c0001t0019g0067 a0001c0001t0044g0038 a0001c0001t0072g0069 a0001c0001t0087g0193 a0001c0002t0002g0089 a0001c0002t0005g0128 a0001c0002t0006g0015 a0001c0002t0013g0001 a0001c0002t0026g0103 a0001c0002t0034g0008 a0001c0002t0060g0053 a0001c0002t0064g0056 a0001c0002t0076g0087	16	196	0.0816	5	c.555 others(26): Show c.555-100658_555-100654dupGGGGG	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	158969919	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02451.hp1 HG02523.hp2 others(1): Show HG02071.hp1 HG02451.hp1 HG02523.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0026	a0001c0001t0002g0150 a0001c0001t0008g0183 a0001c0001t0010g0065 others(1): Show a0001c0001t0002g0150 a0001c0001t0008g0183 a0001c0001t0010g0065 a0001c0001t0026g0163	4	196	0.0204	5	c.554 others(26): Show c.554+103476_554+103477insCTTTC	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159006647	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02040.hp2 others(12): Show HG01081.hp2 HG01106.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02896.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0039 a0001c0001t0043 a0001c0001t0047 a0001c0001t0053 a0001c0001t0066 a0001c0001t0070 a0001c0001t0090 a0001c0002t0003	a0001c0001t0002g0135 a0001c0001t0004g0125 a0001c0001t0005g0129 others(12): Show a0001c0001t0002g0135 a0001c0001t0004g0125 a0001c0001t0005g0129 a0001c0001t0006g0018 a0001c0001t0009g0080 a0001c0001t0011g0096 a0001c0001t0015g0034 a0001c0001t0039g0030 a0001c0001t0043g0029 a0001c0001t0047g0039 a0001c0001t0053g0049 a0001c0001t0066g0077 a0001c0001t0070g0075 a0001c0001t0090g0188 a0001c0002t0003g0108	15	196	0.0765	5	c.554 others(24): Show c.554+66744_554+66748dupTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159022056	T T	TAAAAA TAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG00741.hp2 others(26): Show HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG02071.hp1 HG02129.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02970.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG04184.hp1 NA19009.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0055 a0001c0001t0057 a0001c0001t0067 a0001c0001t0082 a0001c0001t0086 a0001c0001t0093 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0041	a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0146 others(26): Show a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0146 a0001c0001t0002g0121 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0004g0106 a0001c0001t0004g0125 a0001c0001t0004g0153 a0001c0001t0005g0132 a0001c0001t0011g0102 a0001c0001t0012g0011 a0001c0001t0015g0035 a0001c0001t0020g0166 a0001c0001t0021g0160 a0001c0001t0023g0097 a0001c0001t0026g0163 a0001c0001t0028g0191 a0001c0001t0028g0192 a0001c0001t0055g0047 a0001c0001t0057g0046 a0001c0001t0067g0074 a0001c0001t0082g0139 a0001c0001t0086g0154 a0001c0001t0093g0195 a0001c0002t0003g0130 a0001c0002t0004g0162 a0001c0002t0007g0059 a0001c0002t0041g0028	29	196	0.1480	5	c.554 others(24): Show c.554+51335_554+51339dupTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF1_chr5_158690920_159104916	159058569	G G	GAAAGA GAAAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02976.hp2 others(3): Show HG01884.hp2 HG02258.hp2 HG02976.hp2 HG03098.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0045 a0001c0001t0051 others(3): Show a0001c0001t0024 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0078 a0001c0001t0087	a0001c0001t0024g0174 a0001c0001t0045g0031 a0001c0001t0051g0042 others(3): Show a0001c0001t0024g0174 a0001c0001t0045g0031 a0001c0001t0051g0042 a0001c0001t0052g0045 a0001c0001t0078g0152 a0001c0001t0087g0193	6	196	0.0306	5	c.554 others(24): Show c.554+14822_554+14826dupTCTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
EBF2_chr8_25836725_26050413	25838187	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01891.hp2 HG02451.hp1 HG00738.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0037 a0001c0001t0002 a0001c0001t0037	a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0037g0160 a0001c0001t0002g0131 a0001c0001t0002g0147 a0001c0001t0037g0160	3	220	0.0136	5	c.64 others(16): Show c.6421_*6422insTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3537		chr8	TogoVar
EBF2_chr8_25836725_26050413	25838189	C C	CAAAAA CAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01257.hp1 HG01346.hp2 others(11): Show HG00735.hp2 HG01257.hp1 HG01346.hp2 HG01496.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02647.hp2 HG02922.hp1 HG03130.hp2 NA18948.hp1 NA18998.hp2 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 others(11): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0004g0029 a0001c0001t0004g0041 a0001c0001t0004g0044 a0001c0001t0004g0059 a0001c0001t0004g0070 a0001c0001t0004g0075 a0001c0001t0004g0090 a0001c0001t0004g0133 a0001c0001t0012g0162 a0001c0001t0012g0170 a0001c0001t0012g0172	14	220	0.0636	5	c.64 others(16): Show c.6419_*6420insTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding		3535		chr8	TogoVar
EBF2_chr8_25836725_26050413	25854257	A A	AGAGAT AGAGAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG02970.hp1 others(1): Show HG02647.hp2 HG02922.hp1 HG02970.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 others(1): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0049	4	220	0.0182	5	c.152 others(24): Show c.1529-3501_1529-3497dupATCTC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	14/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25904235	C C	CAAAAA CAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02145.hp1 HG02148.hp1 others(6): Show HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG03041.hp1 HG04115.hp2 HG04204.hp2 NA18983.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0004t0003	a0001c0001t0001g0019 a0001c0001t0004g0075 a0001c0001t0004g0092 others(6): Show a0001c0001t0001g0019 a0001c0001t0004g0075 a0001c0001t0004g0092 a0001c0001t0006g0181 a0001c0002t0001g0077 a0001c0002t0001g0095 a0001c0002t0003g0164 a0001c0002t0003g0171 a0001c0004t0003g0197	9	220	0.0409	5	c.633 others(22): Show c.633+4234_633+4238dupTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	7/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25912498	A A	ACACAC ACACAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp2 HG01952.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0070 a0001c0002t0001g0130 a0001c0001t0004g0070 a0001c0002t0001g0130	2	220	0.0091	5	c.552 others(22): Show c.552-3944_552-3943insGTGTG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25928782	G G	GAAAAA GAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG02055.hp1 others(6): Show HG00639.hp1 HG01175.hp1 HG02055.hp1 HG02257.hp2 HG02809.hp2 HG02922.hp1 HG03579.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0027 a0001c0001t0039 a0001c0002t0011 a0001c0002t0013 a0001c0004t0001 a0002c0003t0005	a0001c0001t0001g0106 a0001c0001t0002g0026 a0001c0001t0021g0020 others(6): Show a0001c0001t0001g0106 a0001c0001t0002g0026 a0001c0001t0021g0020 a0001c0001t0027g0103 a0001c0001t0039g0211 a0001c0002t0011g0212 a0001c0002t0013g0099 a0001c0004t0001g0129 a0002c0003t0005g0101	9	220	0.0409	5	c.552 others(24): Show c.552-20232_552-20228dupTTTTT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	25943330	A A	AGAAAG AGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02622.hp1 others(2): Show HG01261.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0036 a0001c0002t0001	a0001c0001t0001g0148 a0001c0001t0002g0026 a0001c0001t0020g0047 others(2): Show a0001c0001t0001g0148 a0001c0001t0002g0026 a0001c0001t0020g0047 a0001c0001t0036g0159 a0001c0002t0001g0053	5	220	0.0227	5	c.552 others(24): Show c.552-34776_552-34775insCTTTC	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF2_chr8_25836725_26050413	26005270	T T	TATATA TATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp1 HG02965.hp1 others(1): Show HG01884.hp2 HG02809.hp1 HG02965.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0019 a0001c0002t0001 a0001c0004t0008 others(1): Show a0001c0001t0019 a0001c0002t0001 a0001c0004t0008 a0001c0005t0010	a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0004t0008g0156 others(1): Show a0001c0001t0019g0009 a0001c0002t0001g0024 a0001c0004t0008g0156 a0001c0005t0010g0008	4	220	0.0182	5	c.551 others(24): Show c.551+27810_551+27814dupTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar

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