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
TCERG1L_chr10_131087391_131316721	131228350	GGAGTCTC others(188): Show GGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCACGAGTCTCCCC TCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGC ATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTTCCTCAAG GTCTCTGGAGTCTCCACTCCAGAAAGGCATTTCCTCAAGGCCTCAC	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	324	0.0031	-195	c.856 others(19): Show c.856+31714_856+31908del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TIMM22_chr17_992129_1008671	1006777	GCGCCATG others(188): Show GCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGC GGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCA GCCACGGGCCCGGGCGGTGCCAGGGTACCTGCGCCATGACGTCATGGGAC CGTCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGGTACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	439	0.0023	-195	c.56 others(11): Show c.5690_*5884del	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3107		chr17	TogoVar
TRIML1_chr4_188134441_188152743	188152355	GGGGTGAG others(188): Show GGGGTGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA GGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGAG GGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGG TGAGAAGGGAAGTGAGAGTGGGGGTTGAGAAGGGGAGTGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	228	0.0044	-195	c.49 others(11): Show c.4984_*5178del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4613		chr4	TogoVar
TRPM7_chr15_50552158_50691797	50561258	AACCAAAA others(188): Show AACCAAAAGGCTGCGTGATTTCTTCATTTCCCTAGTTGAATGGCAATAAA ACAGCTGCCAATAAAATCTGCATGGACACCTACCTTTGGTTAATGGTATT GTACCACATAAGAGAGAGCATCACCCTCATCAAAACAAAGTCAAATGAGA TCCTCTGCTATACAAAGAGCCCTTTAAAAAGTTATAAATACTAATT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0004 a0001c0001t0082g0004	1	352	0.0028	-195	c.22 others(9): Show c.225_*419del	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	39/39	225		chr15	TogoVar
ULK4_chr3_41241599_41967103	41890938	GAGCGGGG others(188): Show GAGCGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGAAAGAAGGGACGGGAGGGGGGAAGGAAGGGACGGGAGGGGGA AAGAAGGGACGGGAGGGGGGAAGGAAGGGACGGGAGCGGGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0001 a0013c0012t0001	a0013c0012t0001g0066 a0013c0012t0001g0066	1	72	0.0139	-195	c.157 others(19): Show c.1577+4385_1577+4579del	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
USP7_chr16_8887097_8968906	8953704	GTGCGGCG others(188): Show GTGCGGCGCCACCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCA CCGGAGGCAGAGGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGA GGGAAGACACGTGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACACG TGCCCCCTGCGGCGCCACTGGAGGCAGAGGGAAGACACGTGCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02976.hp1 HG01175.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0002g0112 a0001c0001t0001g0074 a0001c0001t0002g0112	2	338	0.0059	-195	c.79+ others(15): Show c.79+9308_79+9502del	USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	1/30			chr16	TogoVar
VPS53_chr17_503668_719839	505535	AGAAGCTG others(188): Show AGAAGCTGACTTTCTAGAAGAGCATTGGTGACCTTCGAGAGCAGGGTCAG GACAGCGGTTGAGATGGAAGCTGACTTTCTAGAAGAGCACCGGTGACCCT CGAGAGCGGGGTCAGGACAGTGGTTGAGATGGAAGCTGACTTTGTAGAAG AGCATTGGTGACCTTCGAGATCAGGGTCAGGACAGCGGTTGAGATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02818.hp1 others(5): Show HG01891.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03225.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0033 a0001c0001t0087 others(4): Show a0001c0001t0029 a0001c0001t0033 a0001c0001t0087 a0001c0001t0097 a0001c0001t0111 a0001c0001t0112 a0001c0001t0127	a0001c0001t0029g0151 a0001c0001t0033g0205 a0001c0001t0033g0206 others(5): Show a0001c0001t0029g0151 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 a0001c0001t0097g0199 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0127g0159	8	232	0.0345	-195	c.13 others(13): Show c.13398_*13592del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding		3132		chr17	TogoVar
VPS53_chr17_503668_719839	552868	CGCTGCTG others(188): Show CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGCGAGCAAGTGTGTACAAGG TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG CAAGCGTGTACAAGGTATATACGTGCCGCACGCTGCTGTGTAGTGGAGAA AGGGCAGGCAGTGAGCAAGCGTGTACAAGGTATATACGTGCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0225 a0001c0002t0017g0225	1	232	0.0043	-195	c.178 others(17): Show c.1787+317_1787+511del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
VPS53_chr17_503668_719839	552933	CGCTGCTG others(188): Show CGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAGCAAGCGTGTACAAGG TATATACGTGCCGCACGCTGCTGTGTAGTGGAGAAAGGGCAGGCAGTGAG CAAGCGTGTACAAGGTATATACGTGCCACATGCTGCTGTGTAGTGGAGAA AGGGCAGGCAGCGAGCAAGTGTGTACAAGGTATATACGTGCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00423.hp2 others(57): Show HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02738.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18961.hp1 NA18967.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19090.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0006 a0001c0007 others(4): Show a0001c0001 a0001c0006 a0001c0007 a0002c0003 a0002c0010 a0004c0008 a0005c0009	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(39): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0034 a0001c0001t0069 a0001c0001t0084 a0001c0001t0094 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0128 a0001c0006t0074 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0062 a0001c0007t0070 a0002c0003t0017 a0002c0003t0018 a0002c0003t0036 a0002c0003t0037 a0002c0003t0089 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0146 a0002c0003t0148 a0002c0010t0038 a0004c0008t0036 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(57): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0034g0126 a0001c0001t0069g0012 a0001c0001t0084g0046 a0001c0001t0094g0129 a0001c0001t0107g0212 a0001c0001t0108g0148 a0001c0001t0110g0127 a0001c0001t0114g0142 a0001c0001t0115g0136 a0001c0001t0116g0138 a0001c0001t0117g0230 a0001c0001t0119g0144 a0001c0001t0120g0211 a0001c0001t0121g0143 a0001c0001t0128g0132 a0001c0006t0074g0097 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0023g0109 a0001c0007t0062g0104 a0001c0007t0070g0112 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0036g0176 a0002c0003t0037g0115 a0002c0003t0037g0168 a0002c0003t0089g0175 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0010t0038g0156 a0004c0008t0036g0207 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177	60	232	0.2586	-195	c.178 others(17): Show c.1787+252_1787+446del	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	16/21			chr17	TogoVar
WFS1_chr4_6264850_6308265	6299548	ATGTGTGT others(188): Show ATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTG GGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTG TGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTG TGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0016 a0016	a0016c0060 a0016c0060	a0016c0060t0039 a0016c0060t0039	a0016c0060t0039g0267 a0016c0060t0039g0267	1	390	0.0026	-195	c.862 others(16): Show c.862-1099_862-905del	WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF618_chr9_113871309_114061593	113900833	AAACCCGA others(188): Show AAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCCCGCAAACCCGACCT CCTGTCTCCTAGCACCGTCCTCTCGCGCTAACCCGACCTCCTGTCTCCTA GCACCGTCCTCTCCCGCGAACCCGACCTCCTGTCTCCTAGCACCGTCCTC TCCCGCAAACCCGACCTCCTGTCTCCTAGCACCGTCCTCTCGCGCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG01891.hp1 others(15): Show HG00323.hp1 HG00438.hp2 HG01891.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02155.hp2 HG03225.hp2 HG04199.hp1 HG04204.hp2 NA18962.hp2 NA18971.hp2 NA18989.hp1 NA18999.hp2 NA19009.hp2 NA19054.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0014 a0001c0022	a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0036 a0001c0001t0074 a0001c0001t0123 a0001c0001t0128 a0001c0001t0149 a0001c0001t0156 a0001c0002t0027 a0001c0002t0138 a0001c0003t0002 a0001c0003t0004 a0001c0003t0042 a0001c0005t0004 a0001c0014t0100 a0001c0022t0015	a0001c0001t0001g0068 a0001c0001t0001g0088 a0001c0001t0001g0230 others(15): Show a0001c0001t0001g0068 a0001c0001t0001g0088 a0001c0001t0001g0230 a0001c0001t0008g0067 a0001c0001t0036g0242 a0001c0001t0074g0241 a0001c0001t0123g0240 a0001c0001t0128g0238 a0001c0001t0149g0239 a0001c0001t0156g0233 a0001c0002t0027g0243 a0001c0002t0138g0048 a0001c0003t0002g0234 a0001c0003t0004g0259 a0001c0003t0042g0237 a0001c0005t0004g0223 a0001c0014t0100g0261 a0001c0022t0015g0090	18	264	0.0682	-195	c.33+ others(17): Show c.33+24455_33+24649del	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF711_chrX_85238991_85278357	85254470	GGTGGCGG others(188): Show GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCCGGGCGCA	G G	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0194 a0006c0004t0001g0194	1	276	0.0036	-195	c.80- others(13): Show c.80-759_80-565del	ZNF711	ENSG00000147180.17	transcript	ENST00000674551.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
AATF_chr17_36943954_37061871	37021631	AAATAATA others(187): Show AAATAATAATAATAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp2 others(94): Show HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01109.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18963.hp2 NA18985.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19065.hp1 NA19068.hp1 NA19075.hp2 NA19084.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0009 others(4): Show a0001c0001 a0001c0003 a0001c0009 a0002c0004 a0003c0005 a0003c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0001c0009t0001 a0002c0004t0001 a0003c0005t0001 a0003c0007t0001 a0005c0008t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(93): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0242 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0003g0016 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0080 a0001c0003t0001g0091 a0001c0003t0004g0037 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0046 a0001c0003t0004g0047 a0001c0009t0001g0164 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 a0003c0005t0001g0013 a0003c0005t0001g0093 a0003c0005t0001g0095 a0003c0007t0001g0094 a0005c0008t0001g0101	97	245	0.3959	-194	c.154 others(17): Show c.1547+632_1547+825del	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72441758	GTTGCTAC others(187): Show GTTGCTACCAGCTTAAATATTCACAGCCTTTCCCCACACAGAACCATCTG CTGGTGCTCTCCAACAATATTAACATTAAAAGGGAAGCCTTGACAAGAAG TCCAGTAAGTGGCTACTGATATCGGTTCCACAACTTAATGACGTTGAGGC TGGCACGAGGGCAATTCTCAAGGCCTTTCCTTCATGATCACTAGA	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0031 a0009c0014t0031	a0009c0014t0031g0074 a0009c0014t0031g0074	1	182	0.0055	-194	c.505 others(19): Show c.505-26981_505-26788del	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
AGGF1_chr5_77025404_77070234	77042806	GGGGGCTG others(187): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCGGGCGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0224 a0001c0004t0007g0224	1	438	0.0023	-194	c.870 others(17): Show c.870+3092_870+3285del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77444295	TATATAGT others(187): Show TATATAGTATATATACACAATATATGTGTATATATATAGTATATATACAC AATATATGTGTATATATAGTATAAATATATACTATATATAGTATATATAG TATAAATATATACTATATATAGTATATACATAGTATAAATATATACTATA TATAGTATATACATAGTATAAATATATACTATATATAGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02622.hp1 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0012 a0002c0002t0008g0107 a0001c0001t0001g0012 a0002c0002t0008g0107	2	284	0.0070	-194	c.105 others(21): Show c.1059+26584_1059+26777del	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
B3GNTL1_chr17_82937149_83056770	83004077	GTCCGCGT others(187): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGA GCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCAC TCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00735.hp2 others(33): Show HG00280.hp2 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG02080.hp2 HG02280.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03453.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18980.hp1 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19064.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0002c0005 a0002c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(18): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0003t0005 a0001c0003t0009 a0001c0004t0001 a0001c0007t0001 a0001c0007t0005 a0001c0008t0004 a0001c0008t0005 a0001c0008t0038 a0002c0005t0003 a0002c0009t0013 a0002c0009t0024	a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0004g0227 others(31): Show a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0004g0227 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0002t0001g0116 a0001c0002t0001g0129 a0001c0002t0002g0076 a0001c0002t0006g0107 a0001c0002t0006g0127 a0001c0002t0006g0128 a0001c0002t0016g0134 a0001c0002t0016g0135 a0001c0002t0019g0115 a0001c0002t0025g0098 a0001c0003t0005g0225 a0001c0003t0009g0204 a0001c0003t0009g0209 a0001c0003t0009g0210 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0004t0001g0002 a0001c0007t0001g0003 a0001c0007t0001g0149 a0001c0007t0001g0150 a0001c0007t0005g0250 a0001c0007t0005g0251 a0001c0008t0004g0214 a0001c0008t0005g0208 a0001c0008t0038g0215 a0002c0005t0003g0180 a0002c0009t0013g0117 a0002c0009t0013g0119 a0002c0009t0024g0118	36	266	0.1353	-194	c.459 others(16): Show c.459+844_459+1037del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1B_chr9_137872782_138129619	137976812	AGCCTTGG others(187): Show AGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGA GGGCAGTGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAGGC CTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACAGAGGG CAGGGCAGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(143): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 others(13): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0002 a0001c0003 a0001c0005 others(36): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0022 a0001c0032 a0001c0041 a0001c0044 a0001c0050 a0001c0051 a0001c0053 a0002c0001 a0002c0004 a0002c0008 a0004c0023 a0004c0025 a0004c0029 a0004c0055 a0005c0038 a0005c0039 a0006c0014 a0006c0026 a0007c0016 a0009c0021 a0014c0031 a0015c0049 a0016c0030 a0017c0047 a0018c0046 a0019c0045 a0020c0052 a0021c0027 a0022c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(66): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0041t0001 a0001c0044t0005 a0001c0050t0040 a0001c0051t0007 a0001c0053t0028 a0002c0001t0002 a0002c0001t0020 a0002c0004t0001 a0002c0008t0001 a0004c0023t0042 a0004c0025t0013 a0004c0025t0022 a0004c0029t0036 a0004c0055t0022 a0005c0038t0023 a0005c0039t0032 a0006c0014t0006 a0006c0026t0006 a0007c0016t0007 a0009c0021t0010 a0009c0021t0019 a0014c0031t0002 a0015c0049t0002 a0016c0030t0003 a0017c0047t0006 a0018c0046t0016 a0019c0045t0007 a0020c0052t0006 a0021c0027t0024 a0022c0028t0021	a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 others(143): Show a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0001g0238 a0001c0002t0002g0046 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0073 a0001c0002t0005g0024 a0001c0002t0008g0026 a0001c0002t0008g0053 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0052 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0030g0120 a0001c0002t0033g0025 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0016 a0001c0003t0005g0021 a0001c0003t0005g0107 a0001c0003t0005g0130 a0001c0003t0006g0112 a0001c0003t0006g0136 a0001c0003t0007g0106 a0001c0003t0007g0111 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0131 a0001c0003t0010g0132 a0001c0003t0010g0134 a0001c0003t0010g0135 a0001c0003t0034g0109 a0001c0003t0043g0127 a0001c0003t0044g0011 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0028 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0084 a0001c0005t0004g0085 a0001c0005t0004g0086 a0001c0005t0004g0087 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0091 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0184 a0001c0007t0001g0034 a0001c0007t0003g0027 a0001c0007t0003g0037 a0001c0007t0003g0038 a0001c0007t0003g0041 a0001c0007t0003g0043 a0001c0007t0003g0044 a0001c0007t0003g0045 a0001c0007t0003g0047 a0001c0007t0003g0056 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0092 a0001c0009t0003g0093 a0001c0009t0003g0094 a0001c0009t0003g0095 a0001c0009t0003g0096 a0001c0012t0001g0031 a0001c0012t0001g0032 a0001c0012t0001g0051 a0001c0012t0002g0050 a0001c0012t0004g0040 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0203 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0193 a0001c0017t0016g0119 a0001c0018t0003g0049 a0001c0018t0009g0029 a0001c0018t0018g0033 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0071 a0001c0041t0001g0182 a0001c0044t0005g0239 a0001c0050t0040g0129 a0001c0051t0007g0108 a0001c0053t0028g0105 a0002c0001t0002g0042 a0002c0001t0020g0030 a0002c0004t0001g0014 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0175 a0002c0004t0001g0201 a0002c0004t0001g0202 a0002c0008t0001g0174 a0004c0023t0042g0076 a0004c0025t0013g0217 a0004c0025t0022g0010 a0004c0029t0036g0206 a0004c0055t0022g0009 a0005c0038t0023g0020 a0005c0039t0032g0079 a0006c0014t0006g0140 a0006c0014t0006g0142 a0006c0014t0006g0143 a0006c0026t0006g0144 a0007c0016t0007g0054 a0007c0016t0007g0062 a0007c0016t0007g0205 a0009c0021t0010g0004 a0009c0021t0019g0003 a0009c0021t0019g0005 a0014c0031t0002g0113 a0015c0049t0002g0100 a0016c0030t0003g0097 a0017c0047t0006g0116 a0018c0046t0016g0110 a0019c0045t0007g0117 a0020c0052t0006g0115 a0021c0027t0024g0149 a0022c0028t0021g0156	146	248	0.5887	-194	c.165 others(18): Show c.1656+982_1656+1175del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	12/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	137977001	AGGGAGGC others(187): Show AGGGAGGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGC ACAGAGGGCAGTGCTGGGCAGTCTGAGAATTACCAACTTATGTAGGTAGG GAGGCCTTGGAGGCAGTGTGTTTCCCAGCTTACCATGACAGCTGAGCACA GAGGGCAGGGCAGGGCAGTCTGAGAATTACCAACTTATGTAGGTG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02647.hp1 others(5): Show HG01255.hp1 HG02109.hp1 HG02647.hp1 HG02976.hp2 HG03041.hp1 HG03453.hp1 HG03516.hp2 NA20752.hp1	a0002 a0010 a0002 a0010	a0002c0001 a0002c0004 a0002c0010 others(1): Show a0002c0001 a0002c0004 a0002c0010 a0010c0040	a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 others(5): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0038 a0002c0001t0041 a0002c0004t0001 a0002c0010t0005 a0010c0040t0002	a0002c0001t0001g0163 a0002c0001t0002g0226 a0002c0001t0005g0231 others(5): Show a0002c0001t0001g0163 a0002c0001t0002g0226 a0002c0001t0005g0231 a0002c0001t0038g0164 a0002c0001t0041g0177 a0002c0004t0001g0213 a0002c0010t0005g0183 a0010c0040t0002g0230	8	248	0.0323	-194	c.165 others(19): Show c.1656+1237_1656+1430del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	12/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CD3G_chr11_118339344_118360161	118355269	ATGCATAT others(187): Show ATGCATATATGCATATATACATATATGCATATATACACATATATACATAT ATACACATATACATATATGCATATATACACATATATACACATATACATAT ATGCATATATACACATATATACATATATACACATATACATATATGTATAT ATACACATATACGTATATGTGTATATATACACATATACGTATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	442	0.0023	-194	c.21 others(11): Show c.2170_*2363del	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		109		chr11	TogoVar
CD99_chrX_2686295_2746309	2690691	CGTTTCCA others(187): Show CGTTTCCAAGAAGGGCGGCAGTTTCGTGTCGCTACAGTTGCAGGCGTGCA TTTAGGAGGCTGTAGACAGGGAGGGACCCGCACTTTCCCGAGCAGGGGAG CTGCTGGGAAAGTTTGTTTTTTTGCTCCCACTGGAGACCAGGGGGTGAGG GGCGGAGAAGTGGCTGCAGGGGCGAGTGGGGAGAGGGGGCTCTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	228	0.0044	-194	c.-66 others(9): Show c.-669_-476del	CD99	ENSG00000002586.20	transcript	ENST00000381192.10	protein_coding		603		chrX	TogoVar
CPNE7_chr16_89570758_89602246	89587871	GCCCCCCG others(187): Show GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTTACCCACAGAT ACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	348	0.0029	-194	c.927 others(15): Show c.927+775_928-605del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CSN3_chr4_70237597_70256432	70242280	TTTATTTT others(187): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTTATTATA CTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGT ATACATGTGCCATGCTGGTGCACTGCACCCACTAACTCGTCATCTAGCAT TAGGTATATCTCCCAATGCTATCCCTCCCCACTCCCCCCACCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(99): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00741.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01261.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02698.hp2 HG03453.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19054.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0002 a0002c0007 a0006c0011 others(1): Show a0002c0002 a0002c0007 a0006c0011 a0008c0010	a0002c0002t0002 a0002c0007t0002 a0006c0011t0002 others(1): Show a0002c0002t0002 a0002c0007t0002 a0006c0011t0002 a0008c0010t0002	a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 others(13): Show a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0024 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0007t0002g0013 a0006c0011t0002g0014 a0008c0010t0002g0002	102	464	0.2198	-194	c.-39 others(9): Show c.-393_-200del	CSN3	ENSG00000171209.4	transcript	ENST00000304954.4	protein_coding		316		chr4	TogoVar
CYTH1_chr17_78669048_78787273	78760363	ATATATAT others(187): Show ATATATATATATATATATATATACACACACATACATATATATATGTGTAT ATATATATATATACACATACATATATATATGTATATATATATACATACAT ATATATATGTATATATATGTATGTATATATATATACATATATATGTATAT ATATGTATATATATATATACATACATATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	378	0.0027	-194	c.22+ others(17): Show c.22+21645_22+21838del	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DIP2C_chr10_269201_694668	429365	CCGGACCC others(187): Show CCGGACCCTGGCTGCCTCCCCCCCGGACCCTGGCTGCCTCCCCCCCCGGA CCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCT GCCTCCCCCCGGACCCTGGCTGCCTCCCCCCGGACCCTGGCTGCCTCCCC CCGGACCCTGGCTGCCTCCCCCACAGACCCTGGCTGCCTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02280.hp1 HG02922.hp1 others(5): Show HG01081.hp2 HG02280.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 NA18906.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0007 others(3): Show a0001c0002 a0001c0005 a0001c0007 a0001c0018 a0001c0021 a0001c0022	a0001c0002t0003 a0001c0005t0002 a0001c0007t0002 others(3): Show a0001c0002t0003 a0001c0005t0002 a0001c0007t0002 a0001c0018t0003 a0001c0021t0002 a0001c0022t0003	a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0005t0002g0010 others(5): Show a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0005t0002g0010 a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0018t0003g0011 a0001c0021t0002g0081 a0001c0022t0003g0002	8	88	0.0909	-194	c.395 others(17): Show c.395-6526_395-6333del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	4/36			chr10	TogoVar
ERICH1_chr8_659200_736224	676282	TGAGGACA others(187): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	378	0.0027	-194	c.305 others(17): Show c.305-2429_305-2236del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241805195	GTCTGCAG others(187): Show GTCTGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	314	0.0032	-194	c.10 others(11): Show c.1030_*1223del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		909		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805198	TGCAGGCC others(187): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 NA18946.hp1 others(1): Show HG02895.hp2 HG02897.hp2 NA18946.hp1 NA19089.hp2	a0001 a0003 a0001 a0003	a0001c0009 a0003c0003 a0001c0009 a0003c0003	a0001c0009t0001 a0003c0003t0001 a0001c0009t0001 a0003c0003t0001	a0001c0009t0001g0055 a0001c0009t0001g0058 a0003c0003t0001g0230 others(1): Show a0001c0009t0001g0055 a0001c0009t0001g0058 a0003c0003t0001g0230 a0003c0003t0001g0248	4	314	0.0127	-194	c.10 others(11): Show c.1033_*1226del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		912		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807301	CCCGCCTC others(187): Show CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA19004.hp1 NA18906.hp2 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0001 a0002c0014t0002 a0002c0002t0001 a0002c0014t0002	a0002c0002t0001g0015 a0002c0014t0002g0142 a0002c0002t0001g0015 a0002c0014t0002g0142	2	314	0.0064	-194	c.31 others(11): Show c.3136_*3329del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3015		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132232956	AGAGGAGA others(187): Show AGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAG AGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAG GAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGA GACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0050 a0001c0001t0011g0050	1	183	0.0055	-194	c.107 others(21): Show c.1077+14760_1077+14953del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233100	AGAGGAGA others(187): Show AGAGGAGACAGCGTGGAGTCCCCTACTGCCACACACTCCATGGGGCGACA GGAGACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0145 a0001c0019t0003g0145	1	183	0.0055	-194	c.107 others(21): Show c.1077+14616_1077+14809del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233866	CAGAGGAG others(187): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	-194	c.107 others(21): Show c.1077+13850_1077+14043del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HACL1_chr3_15555699_15606569	15592824	ACGCACAT others(187): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGT GTGCGTGTATACACATGTACGCACATGTGTGCGTGTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03710.hp2 others(1): Show HG03453.hp2 HG03579.hp1 HG03710.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0164 others(1): Show a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0169	4	428	0.0094	-194	c.228 others(17): Show c.228-1338_228-1145del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76699607	CTCTCTCT others(187): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCACTCTCGTGCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAG GCTTCTCTCTGTTTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCT CTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0010 a0010	a0010c0044 a0010c0044	a0010c0044t0005 a0010c0044t0005	a0010c0044t0005g0061 a0010c0044t0005g0061	1	222	0.0045	-194	c.436 others(19): Show c.4368-1424_4368-1231del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	TTCTCTCT others(187): Show TTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCTCTCTCTCTCCAT ATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCC ATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02523.hp1 HG00544.hp1 HG02523.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0005c0017 a0002c0001 a0005c0017	a0002c0001t0002 a0005c0017t0005 a0002c0001t0002 a0005c0017t0005	a0002c0001t0002g0153 a0005c0017t0005g0005 a0002c0001t0002g0153 a0005c0017t0005g0005	2	222	0.0090	-194	c.436 others(19): Show c.4368-1338_4368-1145del	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
LCN15_chr9_136754634_136769518	136769324	CCCCCCCA others(187): Show CCCCCCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGC CCCCCGCCACCACCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCCC CATGCACTTCCCCCCCGCCACCCCGCCACCCCCCATGCACTGCCCCCCCC GACACCCCGACACCCCCCATGCACTGCCCCCCCGCCACCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	356	0.0028	-194	c.-50 others(11): Show c.-5030_-4837del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4807		chr9	TogoVar
LHFPL6_chr13_39337892_39608193	39375608	TTAACCTG others(187): Show TTAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAAATCTCTCCACTGCACT CCAGCCTAGGCGAGAGAGTGAGTCTTTGTCTCAAAAAAAAAAAAAGGAAA GTGAAGTGGGATGGGCCTAGAGATATCTCTATGCCACACTTTCTCTTTAG GTCTTCTTTTCAAAGAATAGATAACAGAGTCCACAAAGATAACAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01981.hp1 others(12): Show HG01109.hp1 HG01496.hp2 HG01981.hp1 HG02145.hp1 HG02257.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02922.hp2 HG03098.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0002t0003	a0001c0001t0001g0131 a0001c0001t0003g0102 a0001c0001t0003g0128 others(12): Show a0001c0001t0001g0131 a0001c0001t0003g0102 a0001c0001t0003g0128 a0001c0001t0005g0035 a0001c0001t0006g0034 a0001c0001t0006g0130 a0001c0001t0006g0230 a0001c0001t0008g0038 a0001c0001t0008g0122 a0001c0001t0008g0229 a0001c0001t0014g0141 a0001c0001t0018g0238 a0001c0001t0025g0030 a0001c0001t0031g0237 a0001c0002t0003g0015	15	242	0.0620	-194	c.484 others(17): Show c.484+2626_484+2819del	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LRBA_chr4_150259435_151020284	150658516	CCTCTCCC others(187): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0002 a0020c0021t0002	a0020c0021t0002g0047 a0020c0021t0002g0047	1	180	0.0056	-194	c.592 others(21): Show c.5921+24841_5921+25034del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
MGAM_chr7_141990879_142111747	142042200	TATATAAC others(187): Show TATATAACATATTATATATACATATAATATATAACATATATTATATATAC ATATAATATATAACATATATTATATATACATATAATATATAACATATATT ATATATACATATAATATATAACATATATTATATATACATATAATATATAA CATATATTATATATACATATAATATATAACATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(13): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02451.hp2 HG02486.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03453.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp2	a0001 a0009 a0012 others(5): Show a0001 a0009 a0012 a0022 a0045 a0064 a0065 a0066	a0001c0015 a0001c0039 a0001c0041 others(9): Show a0001c0015 a0001c0039 a0001c0041 a0001c0133 a0009c0040 a0012c0042 a0012c0098 a0022c0136 a0045c0135 a0064c0138 a0065c0112 a0066c0137	a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 others(9): Show a0001c0015t0001 a0001c0039t0003 a0001c0041t0001 a0001c0133t0001 a0009c0040t0001 a0012c0042t0001 a0012c0098t0001 a0022c0136t0001 a0045c0135t0001 a0064c0138t0002 a0065c0112t0001 a0066c0137t0001	a0001c0015t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 others(13): Show a0001c0015t0001g0312 a0001c0039t0003g0040 a0001c0039t0003g0307 a0001c0041t0001g0243 a0001c0041t0001g0304 a0001c0133t0001g0305 a0009c0040t0001g0115 a0009c0040t0001g0116 a0012c0042t0001g0008 a0012c0042t0001g0059 a0012c0098t0001g0224 a0022c0136t0001g0300 a0045c0135t0001g0306 a0064c0138t0002g0034 a0065c0112t0001g0244 a0066c0137t0001g0035	16	316	0.0506	-194	c.249 others(19): Show c.2498+1361_2498+1554del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544528	GGACAGTT others(187): Show GGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTT ATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGG TGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02818.hp2 others(1): Show HG01884.hp2 HG02055.hp1 HG02818.hp2 HG02897.hp2	a0001 a0003 a0036 a0001 a0003 a0036	a0001c0001 a0003c0003 a0036c0050 a0001c0001 a0003c0003 a0036c0050	a0001c0001t0002 a0003c0003t0001 a0003c0003t0005 others(1): Show a0001c0001t0002 a0003c0003t0001 a0003c0003t0005 a0036c0050t0005	a0001c0001t0002g0094 a0003c0003t0001g0264 a0003c0003t0005g0265 others(1): Show a0001c0001t0002g0094 a0003c0003t0001g0264 a0003c0003t0005g0265 a0036c0050t0005g0114	4	286	0.0140	-194	c.153 others(19): Show c.1539+1870_1540-1884del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MYT1_chr20_64159452_64247253	64173836	CCTGCAGC others(187): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCT CCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	223	0.0045	-194	c.-99 others(17): Show c.-99+9100_-99+9293del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174551	GTAGTTGT others(187): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0013	1	223	0.0045	-194	c.-99 others(18): Show c.-99+9848_-99+10041del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175551	GTAGTTGT others(187): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCT GTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	223	0.0045	-194	c.-99 others(19): Show c.-99+10848_-99+11041del	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NDC80_chr18_2566557_2621635	2614463	GAAAGAAA others(187): Show GAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp1 HG02895.hp2 others(1): Show HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0001t0001g0301 others(1): Show a0001c0001t0001g0286 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302	4	402	0.0100	-194	c.179 others(19): Show c.1792-1970_1792-1777del	NDC80	ENSG00000080986.13	transcript	ENST00000261597.9	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr18	TogoVar
NEU4_chr2_241804193_241822413	241805198	TGCAGGCC others(187): Show TGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 NA18946.hp2 HG02897.hp1 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0026 a0001c0004t0001g0112 a0001c0002t0001g0026 a0001c0004t0001g0112	2	319	0.0063	-194	c.-40 others(11): Show c.-4079_-3886del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3994		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807301	CCCGCCTC others(187): Show CCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCG GGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA19082.hp1 NA18906.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0040 a0001c0001t0003g0196 a0001c0001t0001g0040 a0001c0001t0003g0196	2	319	0.0063	-194	c.-19 others(11): Show c.-1976_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1891		chr2	TogoVar
NOL10_chr2_10565754_10694975	10587066	TACATATA others(187): Show TACATATATATACATATATATACATATATATACACATATATATACATATA TATACATATATATACATATATACACATATATATACATATATACACATATA TACACATATATATACACATATATATACACATATATATACACATATATATA TACATATATATACATATATATATACATACATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(45): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00673.hp1 HG00741.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02647.hp2 HG03209.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp2 NA18940.hp2 NA18941.hp2 NA18952.hp1 NA18956.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18974.hp1 NA18980.hp2 NA18984.hp1 NA18998.hp1 NA19003.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19088.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0007 a0006c0010 a0001c0001 a0004c0007 a0006c0010	a0001c0001t0001 a0004c0007t0001 a0006c0010t0016 a0001c0001t0001 a0004c0007t0001 a0006c0010t0016	a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0164 others(45): Show a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0212 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0344 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0004c0007t0001g0258 a0006c0010t0016g0291	48	372	0.1290	-194	c.184 others(19): Show c.1844+1783_1844+1976del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
PCNX1_chr14_70902459_71120382	71068645	TTGTTGCA others(187): Show TTGTTGCATGTATAGTCACAAGCAAAATTACAGTTATTTTTTATGTGAAC ATATACATGCATATATGTATGTATATATAATATACAAATAACATTTATAT ATTTTATATACATTATATATTATGTATACTTCTACACATACATACATATA TGGATATATACATTTTGTATACATGTATATAAGTTCACATAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01070.hp1 HG01071.hp2 others(26): Show HG00558.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01169.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG02074.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp2 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03834.hp2 HG06807.hp2 NA18951.hp1 NA18970.hp1 NA18983.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA19060.hp2 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0012 a0001c0001 a0001c0003 a0006c0012	a0001c0001t0002 a0001c0001t0017 a0001c0001t0020 others(4): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0020 a0001c0001t0033 a0001c0001t0043 a0001c0003t0013 a0006c0012t0002	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0013 others(26): Show a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0017g0009 a0001c0001t0017g0049 a0001c0001t0020g0022 a0001c0001t0020g0024 a0001c0001t0020g0025 a0001c0001t0033g0003 a0001c0001t0043g0023 a0001c0003t0013g0140 a0006c0012t0002g0044 a0006c0012t0002g0045	29	352	0.0824	-194	c.485 others(19): Show c.4853-4899_4853-4706del	PCNX1	ENSG00000100731.16	transcript	ENST00000304743.7	protein_coding	26/35			chr14	TogoVar
PCYT1A_chr3_196229368_196292726	196271478	ACTCACAG others(187): Show ACTCACAGCCATAATCATAGCACACTGTAGCCTCAAACTCCTGAGCTTAA GCAATCCTCCCATCTGAGCCTCCAGAATAGCTAGGACCAGCATAATGTAT TTTTTAAATGTCCTTCTCCTTCTTTCCTTTTTTTTTTTTTGAGAAAGAGT CTCACTGTGTCACCCTGGCTAGAGTGCAGTGGCACGATCTCGGCT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0226 a0001c0001t0005g0226	1	310	0.0032	-194	c.-10 others(16): Show c.-10-1131_-10-938del	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8			chr3	TogoVar
PCYT1A_chr3_196229368_196292726	196271994	TTTTTTTT others(187): Show TTTTTTTTTTTTTTGAGAAAGAGTCTCACTCTGTCACCCTGGCTAGAGTG CAGTGGCACGATCTCGGCTCTCACAGCCATAATCATAGCACACTGTAGCC TCAAACTCCTGAGCTTAAGCAATCCTCCCATCTGAGCCTCCAGAATAGCT AGGACCAGCATAATGTATTTTTTAAATGTCCTTCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(105): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18939.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18984.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0006c0005 a0001c0001 a0001c0003 a0006c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0049 a0001c0001t0051 a0001c0001t0054 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0003t0005 a0006c0005t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 others(100): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0004g0188 a0001c0001t0005g0106 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0008g0100 a0001c0001t0008g0102 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0105 a0001c0001t0008g0143 a0001c0001t0009g0002 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0293 a0001c0001t0018g0133 a0001c0001t0018g0134 a0001c0001t0018g0137 a0001c0001t0021g0101 a0001c0001t0021g0107 a0001c0001t0026g0015 a0001c0001t0026g0016 a0001c0001t0029g0092 a0001c0001t0030g0142 a0001c0001t0033g0017 a0001c0001t0034g0099 a0001c0001t0037g0289 a0001c0001t0038g0074 a0001c0001t0039g0019 a0001c0001t0040g0085 a0001c0001t0041g0174 a0001c0001t0049g0087 a0001c0001t0051g0094 a0001c0001t0054g0068 a0001c0001t0058g0080 a0001c0001t0059g0136 a0001c0001t0060g0135 a0001c0003t0005g0059 a0006c0005t0008g0108	108	310	0.3484	-194	c.-10 others(17): Show c.-10-1647_-10-1454del	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8			chr3	TogoVar

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