Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMYD3_chr1_245744347_246512279	245753541	ATGGGTGA others(70): Show ATGGGTGAGCTGGGGCAGACAGTCCTCAACAATGTACGGAGAGGGCCCTG TGTGGCCCTGGGCACAGCCCTTCAGCAC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02258.hp2 HG02622.hp1 others(1): Show HG00140.hp2 HG02258.hp2 HG02622.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0004t0001 a0002c0005t0001	a0001c0001t0001g0021 a0001c0002t0002g0077 a0002c0004t0001g0126 others(1): Show a0001c0001t0001g0021 a0001c0002t0002g0077 a0002c0004t0001g0126 a0002c0005t0001g0142	4	150	0.0267	-77	c.118 others(96): Show c.1186-3954_1186-3878delGTGCTGAAGGGCTGTGCCCAGGGCCA CACAGGGCCCTCTCCGTACATTGTTGAGGACTGTCTGCCCCAGCTCACCC A	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	11/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	965130	ACCCCAAT others(70): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02165.hp2 NA19084.hp2 HG01496.hp2 HG02165.hp2 NA19084.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0032 a0001c0001 a0014c0032	a0001c0001t0001 a0014c0032t0001 a0001c0001t0001 a0014c0032t0001	a0001c0001t0001g0039 a0001c0001t0001g0063 a0014c0032t0001g0059 a0001c0001t0001g0039 a0001c0001t0001g0063 a0014c0032t0001g0059	3	190	0.0158	-77	c.72+ others(94): Show c.72+14137_72+14213delGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPINK2_chr4_56804861_56826701	56814570	TAAAATTG others(70): Show TAAAATTGATCAAGCAAAGGCACAGTGGCAAGAGAAGTGGTTGGCATTGG AGTTAACAGTTTAAAGGAACCTCCAAAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	428	0.0023	-77	c.250 others(94): Show c.250-2853_250-2777delTTTTGGAGGTTCCTTTAAACTGTTAACT CCAATGCCAACCACTTCTCTTGCCACTGTGCCTTTGCTTGATCAATTTT	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding	2/3			chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89835175	AAGCATAG others(70): Show AAGCATAGCCCGTGTGAATCTGTGAACCTGCCTGCGCTCGCGGTTGGCCG TCTTAGAAGCGTGGATAAGCATAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG02109.hp1 others(8): Show HG01243.hp2 HG01884.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0152 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164	11	356	0.0309	-77	c.244 others(94): Show c.244+6382_244+6458delAGCATAGCCCGTGTGAATCTGTGAACCT GCCTGCGCTCGCGGTTGGCCGTCTTAGAAGCGTGGATAAGCATAGCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852527	CCACCCCC others(70): Show CCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCCCCACCCCCTGG ATCCCCTGGCCCATCTTCCATCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	356	0.0028	-77	c.646 others(94): Show c.646-1757_646-1681delACCCCCCGGATCCCCTGGCCCATCTTCC GTCCTCTCCCCACCCCCTGGATCCCCTGGCCCATCTTCCATCCTCCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCK3_chr4_166728384_167239494	166968618	TTTGGGAG others(70): Show TTTGGGAGCCTCTGCCTAGATTTCAGAGGATTTATTAAAAGGCTTGGATG TCAAGGCAGAAGTCTACTGCACAGGCAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02145.hp1 others(8): Show HG01109.hp1 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp2 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0002t0005 a0001c0004t0003	a0001c0001t0001g0142 a0001c0001t0002g0014 a0001c0001t0002g0016 others(8): Show a0001c0001t0001g0142 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0141 a0001c0001t0003g0025 a0001c0001t0003g0061 a0001c0001t0005g0037 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0005g0074 a0001c0004t0003g0008	11	144	0.0764	-77	c.350 others(96): Show c.350+31654_350+31730delCTGCCTGTGCAGTAGACTTCTGCCTT GACATCCAAGCCTTTTAATAAATCCTCTGAAATCTAGGCAGAGGCTCCCA A	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPRY3_chrX_155607586_155787459	155685493	ACATATTA others(70): Show ACATATTATTTCCTCACCCAGGTATTAAGCCTAGTACCCATGAGTTATTT TTCCTGATCCTCTCCCTCTTCCACCCTC	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0204 a0001c0001t0008g0204	1	231	0.0043	-77	c.-28 others(98): Show c.-282+72849_-282+72925delTATTATTTCCTCACCCAGGTATTA AGCCTAGTACCCATGAGTTATTTTTCCTGATCCTCTCCCTCTTCCACCCT CCA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SQSTM1_chr5_179815905_179843078	179834929	AGACGGGG others(70): Show AGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACATCCCG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	462	0.0022	-77	c.116 others(96): Show c.1165+1158_1165+1234delTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACATCCCGGACGGGGTG G	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SQSTM1_chr5_179815905_179843078	179835032	TCTCCTCA others(70): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACGCTCCTCACCTCC CGGATGGGGTCGCGGCCAGGCAGAGGCG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04115.hp2 HG04228.hp1 HG02683.hp2 HG04115.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	3	462	0.0065	-77	c.116 others(96): Show c.1165+1259_1166-1319delTTCTCAGACGGGGCGGCCGGGCAGAG ACGCTCCTCACCTCCCGGATGGGGTCGCGGCCAGGCAGAGGCGCTCCTCA C	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SSU72L2_chr11_4236641_4247706	4237729	TGTCTCTG others(70): Show TGTCTCTGCCCGGCCGCCGAGTCTGGGAAGTGAGGAGCGCCTCTTCCTGG CAGCCATCCGGTCTGGGAAGTGAGGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0010 a0012c0013t0010	a0012c0013t0010g0000 a0012c0013t0010g0000	2	366	0.0055	-77	c.42 others(88): Show c.4250_*4326delGCTCCTCACTTCCCAGACCGGATGGCTGCCAGGA AGAGGCGCTCCTCACTTCCCAGACTCGGCGGCCGGGCAGAGAC	SSU72L2	ENSG00000284306.2	transcript	ENST00000640805.2	protein_coding		3911		chr11	TogoVar
SSU72L5_chr11_4228217_4239287	4237729	TGTCTCTG others(70): Show TGTCTCTGCCCGGCCGCCGAGTCTGGGAAGTGAGGAGCGCCTCTTCCTGG CAGCCATCCGGTCTGGGAAGTGAGGAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0000 a0004c0004t0011g0000	2	354	0.0057	-77	c.38 others(88): Show c.3858_*3934delGTCTCTGCCCGGCCGCCGAGTCTGGGAAGTGAGG AGCGCCTCTTCCTGGCAGCCATCCGGTCTGGGAAGTGAGGAGC	SSU72L5	ENSG00000284018.2	transcript	ENST00000639584.2	protein_coding		3443		chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	186984728	TTCCTTCC others(70): Show TTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTT CCCTTCCTCCCTTCCTTCCTTCCTTCCA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0222 a0001c0001t0018g0222	1	362	0.0028	-77	c.-18 others(98): Show c.-183+20818_-183+20894delCTCCCTCCCTCCCTCCCTCCCTCC TTCCTTCCTTCCCTTCCTCCCTTCCTTCCTTCCTTCCATCCTTCCTTCCT TCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL1_chr3_186925526_187083553	186984748	CTCCCTCC others(70): Show CTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCCTTCCTCCCTTCCTTCCT TCCTTCCATCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp2 NA19058.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0221 a0001c0001t0010g0127 a0001c0001t0001g0221 a0001c0001t0010g0127	2	362	0.0055	-77	c.-18 others(98): Show c.-183+20842_-183+20918delTTCCTTCCTTCCCTTCCTCCCTTC CTTCCTTCCTTCCATCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCC TCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL1_chr3_186925526_187083553	186984768	TTCCTTCC others(70): Show TTCCTTCCTTCCCTTCCTCCCTTCCTTCCTTCCTTCCATCCTTCCTTCCT TCCTTCCTTCCCTCCCTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp1 HG01257.hp1 others(39): Show HG00558.hp1 HG00735.hp1 HG01257.hp1 HG01258.hp1 HG01891.hp1 HG01943.hp1 HG02040.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02630.hp1 HG02717.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG03942.hp1 NA18747.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18961.hp2 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19057.hp2 NA19062.hp2 NA20129.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0028 a0001c0001t0045 a0001c0001t0048 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0002t0008 a0001c0002t0027 a0001c0002t0030 a0001c0002t0046 a0001c0003t0025 a0001c0004t0023 a0001c0004t0071 a0003c0010t0044	a0001c0001t0001g0201 a0001c0001t0001g0236 a0001c0001t0001g0265 others(39): Show a0001c0001t0001g0201 a0001c0001t0001g0236 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0003g0078 a0001c0001t0003g0177 a0001c0001t0003g0204 a0001c0001t0003g0258 a0001c0001t0006g0237 a0001c0001t0007g0091 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0205 a0001c0001t0009g0047 a0001c0001t0009g0062 a0001c0001t0010g0003 a0001c0001t0010g0118 a0001c0001t0010g0123 a0001c0001t0013g0298 a0001c0001t0013g0305 a0001c0001t0014g0106 a0001c0001t0014g0124 a0001c0001t0014g0130 a0001c0001t0015g0096 a0001c0001t0015g0113 a0001c0001t0015g0117 a0001c0001t0028g0112 a0001c0001t0045g0098 a0001c0001t0048g0107 a0001c0001t0065g0304 a0001c0001t0069g0333 a0001c0001t0070g0303 a0001c0002t0008g0029 a0001c0002t0008g0140 a0001c0002t0008g0149 a0001c0002t0027g0041 a0001c0002t0030g0153 a0001c0002t0046g0108 a0001c0003t0025g0302 a0001c0004t0023g0156 a0001c0004t0071g0064 a0003c0010t0044g0087	42	362	0.1160	-77	c.-18 others(98): Show c.-183+20854_-183+20930delCTTCCTCCCTTCCTTCCTTCCTTC CATCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT TCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
STK32B_chr4_5046480_5505989	5316544	TTACATAT others(70): Show TTACATATATAATATATAATATATATTACATATATAATATATAATATATA TTACATATATAATATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	170	0.0059	-77	c.261 others(96): Show c.261-14673_261-14597delCATATATAATATATAATATATATTAC ATATATAATATATAATATATATTACATATATAATATATATTATATATTAT A	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK3_chr8_98449633_98830688	98825817	CGCCCCGC others(70): Show CGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCC CGCCCCCGGCCGCGCCGGCCGCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(17): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG01071.hp1 HG01109.hp1 HG01192.hp1 HG01261.hp1 HG01943.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02602.hp2 HG03225.hp1 HG04199.hp2 NA18952.hp2 NA18989.hp1 NA19003.hp1 NA19010.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0078 others(17): Show a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0002g0077 a0001c0001t0002g0092 a0001c0001t0002g0120 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0152 a0001c0001t0002g0156 a0001c0001t0004g0081	20	170	0.1177	-77	c.-35 others(86): Show c.-354_-278delAGGCTGGCGGCCGGCGCGGCCGGGGGCGGGGCGGGG CGGCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGGGC	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		130		chr8	TogoVar
STPG3_chr9_137246286_137258483	137257007	CTGCACAA others(70): Show CTGCACAACTTTTTCAGTCCTTCCCCCAAGACCAGGCGCCAGGGCGAGGT GAGGGGACAGGCCGTGTGCGGGGTGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-77	c.37 others(88): Show c.3763_*3839delTGCACAACTTTTTCAGTCCTTCCCCCAAGACCAG GCGCCAGGGCGAGGTGAGGGGACAGGCCGTGTGCGGGGTGGGG	STPG3	ENSG00000197768.11	transcript	ENST00000412566.6	protein_coding		3525		chr9	TogoVar
SVIL_chr10_29452338_29639971	29614013	GCACTGAG others(70): Show GCACTGAGCTCAGCCTCCTCAGGAAACTGGCTCTGGAATGGCCACTGAGG CACCAGAAATAGGAGCTTTCTATTATCA	G G	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	290	0.0035	-77	c.-20 others(98): Show c.-201+20330_-201+20406delTGATAATAGAAAGCTCCTATTTCT GGTGCCTCAGTGGCCATTCCAGAGCCAGTTTCCTGAGGAGGCTGAGCTCA GTG	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	1/37			chr10	TogoVar
TAFA2_chr12_61703273_62197773	62010893	GGGGAGCG others(70): Show GGGGAGCGCCTCTGCCCGGCCGCCCTTCGTCTGGGAGGTGGGGAGCGCCT CTGCCCGGCCGCCCTTCGTCTGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	220	0.0046	-77	c.-1- others(96): Show c.-1-143544_-1-143468delACCTCCCAGACGAAGGGCGGCCGGGC AGAGGCGCTCCCCACCTCCCAGACGAAGGGCGGCCGGGCAGAGGCGCTCC C	TAFA2	ENSG00000198673.11	transcript	ENST00000416284.8	protein_coding	1/4			chr12	TogoVar
TBCK_chr4_106036599_106321209	106198651	TCATGGTA others(70): Show TCATGGTAATCATTTTTATATTATAATTACCTATCACAACATACTTGTAC TATACTTAATTCTGGGTATATTCATTCA	T T	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	320	0.0031	-77	c.186 others(96): Show c.1861-3974_1861-3898delTGAATGAATATACCCAGAATTAAGTA TAGTACAAGTATGTTGTGATAGGTAATTATAATATAAAAATGATTACCAT G	TBCK	ENSG00000145348.17	transcript	ENST00000394708.7	protein_coding	20/25			chr4	TogoVar
TCAP_chr17_39660349_39671554	39669478	TGGGGCCA others(70): Show TGGGGCCAATGCTTTTTCCAGATGGAGACACATTTGCAGAGGAGAAGGAA GAACTAGAGAGAGGCAGGGAGATGCAGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-77	c.33 others(88): Show c.3370_*3446delGGGGCCAATGCTTTTTCCAGATGGAGACACATTT GCAGAGGAGAAGGAAGAACTAGAGAGAGGCAGGGAGATGCAGG	TCAP	ENSG00000173991.6	transcript	ENST00000309889.3	protein_coding		2925		chr17	TogoVar
TCERG1L_chr10_131087391_131316721	131228952	CAGGCATT others(70): Show CAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGCATTCCT CAAGGTCTCTGGAGTCTCCACTCCAGAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(133): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp1 NA18981.hp2 NA18990.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004 a0003c0005 a0004c0006 a0005c0010 a0007c0016 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0003t0003 a0002c0004t0002 a0002c0004t0007 a0002c0004t0008 a0003c0005t0002 a0004c0006t0003 a0005c0010t0007 a0007c0016t0023 a0010c0017t0004	a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0042 others(133): Show a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0271 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0295 a0001c0001t0002g0315 a0001c0001t0003g0017 a0001c0001t0003g0023 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0053 a0001c0001t0003g0057 a0001c0001t0003g0060 a0001c0001t0003g0073 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0004g0018 a0001c0001t0004g0024 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0049 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0102 a0001c0001t0005g0206 a0001c0001t0005g0211 a0001c0001t0005g0238 a0001c0001t0005g0246 a0001c0001t0005g0250 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0306 a0001c0001t0005g0308 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0109 a0001c0001t0006g0111 a0001c0001t0007g0259 a0001c0001t0007g0261 a0001c0001t0007g0263 a0001c0001t0007g0276 a0001c0001t0007g0285 a0001c0001t0007g0312 a0001c0001t0007g0318 a0001c0001t0009g0245 a0001c0001t0009g0254 a0001c0001t0009g0267 a0001c0001t0010g0075 a0001c0001t0010g0089 a0001c0001t0010g0096 a0001c0001t0010g0108 a0001c0001t0011g0189 a0001c0001t0012g0294 a0001c0001t0013g0001 a0001c0001t0017g0054 a0001c0002t0001g0122 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0141 a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0158 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0173 a0001c0002t0003g0121 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0004g0127 a0001c0002t0004g0145 a0001c0002t0004g0159 a0001c0002t0004g0168 a0001c0002t0004g0169 a0001c0002t0006g0161 a0001c0002t0006g0163 a0001c0002t0006g0171 a0001c0002t0006g0172 a0001c0002t0006g0177 a0001c0002t0010g0179 a0001c0002t0016g0134 a0001c0003t0003g0005 a0001c0003t0003g0006 a0002c0004t0002g0219 a0002c0004t0002g0220 a0002c0004t0002g0226 a0002c0004t0007g0218 a0002c0004t0007g0221 a0002c0004t0008g0222 a0003c0005t0002g0190 a0003c0005t0002g0192 a0004c0006t0003g0125 a0004c0006t0003g0128 a0005c0010t0007g0234 a0007c0016t0023g0324 a0010c0017t0004g0183	136	324	0.4198	-77	c.856 others(96): Show c.856+31230_856+31306delTTCTGGAGTGGAGACTCCAGAGACCT TGAGGAATGCCTGTCTGGAGGGAAGACTCCGGAGGCCTTGAGGAAATGCC T	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TFAP2D_chr6_50708526_50778033	50757729	CTATATAT others(70): Show CTATATATAGAATATATATAATTATTCTATATATATAGAATATATATAAT TATTCTATATATATAGAATATATATAAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02602.hp1 HG02970.hp2 others(4): Show HG01934.hp1 HG02602.hp1 HG02970.hp2 HG03516.hp1 HG03834.hp2 NA18906.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0001c0001t0003 a0002c0002t0003	a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 others(4): Show a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0051 a0001c0001t0003g0052 a0002c0002t0003g0030	7	334	0.0210	-77	c.113 others(96): Show c.1139+6414_1139+6490delGAATATATATAATTATTCTATATATA TAGAATATATATAATTATTCTATATATATAGAATATATATAATTATATAT A	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
THEG_chr19_356747_381026	377081	CTGTGCCC others(70): Show CTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0042 a0009c0011t0042	a0009c0011t0042g0116 a0009c0011t0042g0116	1	370	0.0027	-77	c.-11 others(88): Show c.-1188_-1112delAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1056		chr19	TogoVar
TIAM2_chr6_154990315_155262723	155029098	ATACTATG others(70): Show ATACTATGTGTTATATATACACTGTATGTACTATGTGTTATATACACTAT ATGTACTATGTGTTATATACACTATATG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp1 HG02071.hp2 others(15): Show HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp2 HG02572.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp1 NA18947.hp1 NA18952.hp2 NA18968.hp2 NA18969.hp2 NA18999.hp2 NA19043.hp1 NA19081.hp1 NA19082.hp1 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0017 a0021	a0001c0001 a0001c0039 a0002c0003 others(5): Show a0001c0001 a0001c0039 a0002c0003 a0002c0023 a0004c0011 a0008c0013 a0017c0049 a0021c0020	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0039t0007 a0002c0003t0001 a0002c0003t0003 a0002c0023t0011 a0004c0011t0004 a0004c0011t0009 a0008c0013t0001 a0017c0049t0001 a0021c0020t0005	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0123 others(15): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0159 a0001c0001t0003g0168 a0001c0001t0019g0214 a0001c0039t0007g0227 a0002c0003t0001g0026 a0002c0003t0001g0124 a0002c0003t0003g0142 a0002c0003t0003g0158 a0002c0023t0011g0025 a0004c0011t0004g0120 a0004c0011t0009g0160 a0008c0013t0001g0023 a0017c0049t0001g0035 a0021c0020t0005g0226	18	230	0.0783	-77	c.-20 others(98): Show c.-209+33623_-209+33699delTACACTGTATGTACTATGTGTTAT ATACACTATATGTACTATGTGTTATATACACTATATGTACTATGTGTTAT ATA	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM120A_chr7_75981831_75999595	75988724	GGGGGGCT others(70): Show GGGGGGCTGGAGGGGAAGGCCAGGTGGGGGGCTGGAGGGGAAGAAGGCCG GGTGGGGGGCTGGAGGGGAAGGCCGGGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03704.hp2 HG04199.hp1 HG00735.hp1 HG03704.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0089	3	368	0.0082	-77	c.378 others(92): Show c.378-285_378-209delACCCGGCCTTCCCCTCCAGCCCCCCACCCG GCCTTCTTCCCCTCCAGCCCCCCACCTGGCCTTCCCCTCCAGCCCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM144_chr4_158205486_158260416	158257076	TATATAGT others(70): Show TATATAGTATTATATATTATATATAGTATTATATATATTATATATAGTAT TATATATTATATATAGTATTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	274	0.0037	-77	c.35 others(88): Show c.3550_*3626delATATAGTATTATATATTATATATAGTATTATATA TATTATATATAGTATTATATATTATATATAGTATTATATATAA	TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding		1661		chr4	TogoVar
TMPRSS4_chr11_118072078_118126890	118096890	AGAAAGAA others(70): Show AGAAAGAAAGAAAGAAAGAAAGGGAGAGAGAAAGGAAAGAAAGAAAGAGA AAGAAAGAAAGGAAGGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01175.hp2 NA18942.hp1 HG00621.hp1 HG01175.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0247 a0001c0001t0001g0309 a0001c0001t0003g0287 a0001c0001t0001g0247 a0001c0001t0001g0309 a0001c0001t0003g0287	3	406	0.0074	-77	c.43+ others(92): Show c.43+2057_44-1997delGGAGAGAGAAAGGAAAGAAAGAAAGAGAAA GAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAG	TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
TNKS_chr8_9550912_9787346	9648736	TATATGTG others(70): Show TATATGTGGTCTCTTATTGACCAAAACGTCATTATGTGGCACATGACTGT ACCTGTTCCCCTCACTTTCCCATTCTTA	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	272	0.0037	-77	c.995 others(96): Show c.995-31214_995-31138delATATGTGGTCTCTTATTGACCAAAAC GTCATTATGTGGCACATGACTGTACCTGTTCCCCTCACTTTCCCATTCTT A	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	3/26			chr8	TogoVar
TNS1_chr2_217794791_218007995	217955392	GTATTCAT others(70): Show GTATTCATCCTGAGAAGTGGGCCCAAACACGAGCCTTCCTCCCGCACAGT GCCCGTCCACCACCAGTCCCTCCAAGCT	G G	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0053 a0001c0006t0053	a0001c0006t0053g0040 a0001c0006t0053g0040	1	244	0.0041	-77	c.186 others(96): Show c.186+23296_186+23372delAGCTTGGAGGGACTGGTGGTGGACGG GCACTGTGCGGGAGGAAGGCTCGTGTTTGGGCCCACTTCTCAGGATGAAT A	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	3/32			chr2	TogoVar
TPCN2_chr11_69043932_69095597	69069135	TGTCTGAG others(70): Show TGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCC TAGCAAGTGACACAGGGGGAGCAGGACC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp1 HG02055.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0011g0293 a0001c0001t0011g0294	2	404	0.0050	-77	c.830 others(94): Show c.830-1256_830-1180delTGTCTGAGTCCTAGCAAGTGACACAGGG GGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGAC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRAPPC9_chr8_139722725_140462744	139804520	GCCACCAC others(70): Show GCCACCACACACAACCACCACCACCCACCACCGCCACCAAGCACCACCGC CACCACCCACCACCGCCACCAAGCACCA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG02717.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0002t0013 a0001c0003t0005 a0001c0004t0028 others(1): Show a0001c0002t0013 a0001c0003t0005 a0001c0004t0028 a0001c0007t0015	a0001c0002t0013g0005 a0001c0003t0005g0013 a0001c0004t0028g0098 others(1): Show a0001c0002t0013g0005 a0001c0003t0005g0013 a0001c0004t0028g0098 a0001c0007t0015g0018	4	98	0.0408	-77	c.305 others(98): Show c.3056-72395_3056-72319delTGGTGCTTGGTGGCGGTGGTGGGT GGTGGCGGTGGTGCTTGGTGGCGGTGGTGGGTGGTGGTGGTTGTGTGTGG TGG	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	139804629	GCCACCAA others(70): Show GCCACCAAGCACCACCGCCACCACCCACCACCGCCACCAAGCACCACCAC CACACACAACCACCACCACCCACCACCA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0088 a0001c0004t0001g0088	1	98	0.0102	-77	c.305 others(98): Show c.3056-72504_3056-72428delTGGTGGTGGGTGGTGGTGGTTGTG TGTGGTGGTGGTGCTTGGTGGCGGTGGTGGGTGGTGGCGGTGGTGCTTGG TGG	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(70): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp2 HG02630.hp2 others(2): Show HG00738.hp1 HG00738.hp2 HG02630.hp2 HG03130.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0006	a0001c0001t0024 a0001c0002t0001 a0001c0005t0006 others(2): Show a0001c0001t0024 a0001c0002t0001 a0001c0005t0006 a0001c0007t0001 a0002c0006t0005	a0001c0001t0024g0125 a0001c0002t0001g0134 a0001c0005t0006g0062 others(2): Show a0001c0001t0024g0125 a0001c0002t0001g0134 a0001c0005t0006g0062 a0001c0007t0001g0132 a0002c0006t0005g0144	5	180	0.0278	-77	c.188 others(94): Show c.1884+809_1884+885delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRPV1_chr17_3560446_3614411	3564348	GGAGACGC others(70): Show GGAGACGCTCCTCACTTCCCAGTAGGGGCAGCTGCCGGGTGGAGGGGCTC CTCACTTCTCAGACGGGGCGGCTGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0270 a0004c0004t0003g0270	1	392	0.0026	-77	c.23 others(88): Show c.2390_*2466delTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCACCCGGCAGCTGCCCCTACTGGGAAGTGAGGAGCGTCTC	TRPV1	ENSG00000196689.13	transcript	ENST00000572705.2	protein_coding		1097		chr17	TogoVar
TTLL8_chr22_50013575_50063298	50053911	GTGCCGTG others(70): Show GTGCCGTGCACCTGCAGTCTGCACATATTTGTACACGTTCTGCTCTCCGT CCGGGTGTGTCCGGCCTTAACATCACCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01175.hp1 others(51): Show HG00438.hp2 HG00733.hp2 HG01175.hp1 HG01192.hp1 HG01346.hp2 HG01515.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG03239.hp2 HG03471.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18980.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp1 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0020	a0001c0001 a0001c0015 a0002c0002 others(6): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0020c0024	a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0015t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0005c0005t0001 a0005c0005t0002 a0006c0006t0002 a0008c0008t0001 a0020c0024t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 others(49): Show a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0015t0001g0138 a0002c0002t0001g0137 a0002c0002t0001g0142 a0002c0002t0001g0146 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0159 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0001g0216 a0002c0002t0002g0145 a0002c0002t0002g0188 a0003c0003t0001g0005 a0003c0003t0001g0140 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0157 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0001g0179 a0003c0003t0002g0160 a0003c0003t0002g0171 a0003c0003t0002g0172 a0004c0004t0001g0141 a0004c0004t0001g0144 a0004c0004t0001g0178 a0004c0004t0002g0004 a0004c0004t0002g0161 a0004c0004t0002g0162 a0004c0004t0002g0167 a0004c0004t0004g0217 a0005c0005t0001g0139 a0005c0005t0002g0176 a0006c0006t0002g0158 a0006c0006t0002g0175 a0008c0008t0001g0164 a0008c0008t0001g0165 a0008c0008t0001g0184 a0020c0024t0001g0182	54	224	0.2411	-77	c.159 others(94): Show c.159+1246_159+1322delTGGTGATGTTAAGGCCGGACACACCCGG ACGGAGAGCAGAACGTGTACAAATATGTGCAGACTGCAGGTGCACGGCA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	3/13			chr22	TogoVar
UBAP2_chr9_33916693_34053887	33939801	GGGAGGAG others(70): Show GGGAGGAGGAAGGGGAGGAGGAAGGGGGGGAGGAGGGGGAGGGGGAGGAG GGGGAGGGGGAGGAGGAGGAGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0354 a0001c0003t0001g0354	1	356	0.0028	-77	c.192 others(96): Show c.1929+1771_1929+1847delTCCCCTCCTCCTCCTCCTCCCCCTCC CCCTCCTCCCCCTCCCCCTCCTCCCCCCCTTCCTCCTCCCCTTCCTCCTC C	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	16/28			chr9	TogoVar
UBL4B_chr1_110107443_110118947	110113322	GTCCCCTC others(70): Show GTCCCCTCCTGTGCTGGCAGCTTTGCCCACACATACCCAGCAGCTCCCCA GGCTGAAAGCAGCCCTGGCCCAGGGTCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0000 a0001c0001t0007g0000	1	396	0.0025	-77	c.26 others(86): Show c.264_*340delTCCCCTCCTGTGCTGGCAGCTTTGCCCACACATACC CAGCAGCTCCCCAGGCTGAAAGCAGCCCTGGCCCAGGGTCT	UBL4B	ENSG00000186150.5	transcript	ENST00000334179.5	protein_coding	1/1	264		chr1	TogoVar
ULK4_chr3_41241599_41967103	41890850	GGAAGGGA others(70): Show GGAAGGGATGCGGGGAAGAAAGGGACAGAAGGGGGAAGGAAGGGACGGGA GGGGGAAAGAAGGGACGGGAGGGGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03486.hp2 NA18522.hp1 others(1): Show HG02970.hp2 HG03486.hp2 NA18522.hp1 NA19043.hp2	a0004 a0005 a0004 a0005	a0004c0002 a0005c0006 a0004c0002 a0005c0006	a0004c0002t0001 a0005c0006t0004 a0004c0002t0001 a0005c0006t0004	a0004c0002t0001g0006 a0005c0006t0004g0001 a0005c0006t0004g0002 others(1): Show a0004c0002t0001g0006 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003	4	72	0.0556	-77	c.157 others(96): Show c.1577+4591_1577+4667delTTTCCCCCTCCCGTCCCTTCTTTCCC CCTCCCGTCCCTTCCTTCCCCCTTCTGTCCCTTTCTTCCCCGCATCCCTT C	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC13B_chr9_35157009_35410335	35373515	GCCCTGTG others(70): Show GCCCTGTGCAAGAGTGTGGCTAGCAAGGCAGCCCCAGCTCTCAGACTTAA CTCTCTGGGCTTGGCAGATACATGGGGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0003 a0006c0008t0002g0003	1	224	0.0045	-77	c.954 others(96): Show c.9541-1532_9541-1456delCTGTGCAAGAGTGTGGCTAGCAAGGC AGCCCCAGCTCTCAGACTTAACTCTCTGGGCTTGGCAGATACATGGGGCC C	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP15_chr12_62255404_62421389	62303984	GCTGTAAA others(70): Show GCTGTAAAACTGTCTAGAATTATTTCATTCCTAGGATAAAGGAAAATTTG TGTCCAAAATATCTCTAAAGGTATTACA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0091 a0001c0002t0028g0091	1	348	0.0029	-77	c.348 others(94): Show c.348+1070_348+1146delAAACTGTCTAGAATTATTTCATTCCTAG GATAAAGGAAAATTTGTGTCCAAAATATCTCTAAAGGTATTACACTGTA	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTY_chrY_13243385_13485033	13484539	ATCCAGCT others(70): Show ATCCAGCTTCAGTTTTCTGCATATGGCTAGCCAGTTTTCCTTCTTGAGTT AATTTTTGTATAAGGCATAAGGAAGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	126	0.0079	-77	c.-49 others(88): Show c.-4951_-4875delCCCCTTCCTTATGCCTTATACAAAAATTAACTCA AGAAGGAAAACTGGCTAGCCATATGCAGAAAACTGAAGCTGGA	UTY	ENSG00000183878.16	transcript	ENST00000545955.6	protein_coding		4507		chrY	TogoVar
VPS9D1_chr16_89702134_89725898	89716985	GGGCAAGC others(70): Show GGGCAAGCCCACTGCCCCCCCATCCCCTCACCCCGGGTAAGCCCACTGCC CCTCCCGTCCCCCAACTGACTGACCCTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG02145.hp2 others(8): Show HG01109.hp1 HG01192.hp1 HG02145.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0021 a0001c0001 a0001c0002 a0006c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0006c0021t0001	a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0192 others(5): Show a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0192 a0001c0001t0001g0223 a0001c0002t0001g0052 a0001c0002t0001g0190 a0001c0002t0002g0189 a0006c0021t0001g0191	11	430	0.0256	-77	c.176 others(92): Show c.176-240_176-164delTAGGGTCAGTCAGTTGGGGGACGGGAGGGG CAGTGGGCTTACCCGGGGTGAGGGGATGGGGGGGCAGTGGGCTTGCC	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VTN_chr17_28362284_28375307	28371575	CCCGGGGA others(70): Show CCCGGGGACCACTGCTCCTCCGGGGCGTGGCTGCAGGAGGCTGGAGGAGC CCCGCGGGACCCAGAGGCGGGGCGTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00544.hp2 others(79): Show HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG01081.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01891.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 NA18612.hp2 NA18940.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19062.hp1 NA19067.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20805.hp2	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0002c0003 a0002c0007 others(3): Show a0002c0002 a0002c0003 a0002c0007 a0003c0005 a0003c0010 a0008c0012	a0002c0002t0002 a0002c0003t0001 a0002c0007t0001 others(3): Show a0002c0002t0002 a0002c0003t0001 a0002c0007t0001 a0003c0005t0001 a0003c0010t0001 a0008c0012t0001	a0002c0002t0002g0009 a0002c0003t0001g0002 a0002c0003t0001g0011 others(5): Show a0002c0002t0002g0009 a0002c0003t0001g0002 a0002c0003t0001g0011 a0002c0003t0001g0015 a0002c0007t0001g0012 a0003c0005t0001g0008 a0003c0010t0001g0013 a0008c0012t0001g0014	82	390	0.2103	-77	c.-14 others(88): Show c.-1449_-1373delCCGACGCCCCGCCTCTGGGTCCCGCGGGGCTCCT CCAGCCTCCTGCAGCCACGCCCCGGAGGAGCAGTGGTCCCCGG	VTN	ENSG00000109072.14	transcript	ENST00000226218.9	protein_coding		1269		chr17	TogoVar
WBP1_chr2_74453438_74465881	74458121	TACCTGGC others(70): Show TACCTGGCGTGCTTCGGCCTTTGGCGTCATTCCGAAAACATACCGCAAGC CAATCAGCGGCAACCTTGCTCTTCGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	346	0.0029	-77	c.-48 others(86): Show c.-481_-405delACCTGGCGTGCTTCGGCCTTTGGCGTCATTCCGAAA ACATACCGCAAGCCAATCAGCGGCAACCTTGCTCTTCGGGG	WBP1	ENSG00000239779.7	transcript	ENST00000233615.7	protein_coding		316		chr2	TogoVar
WFS1_chr4_6264850_6308265	6299684	AGGTTGCG others(70): Show AGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGG GTAGGTTGCGTGTGTGTGTGTAGGGGTG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18945.hp1 NA18978.hp1 others(3): Show NA18941.hp1 NA18945.hp1 NA18978.hp1 NA18979.hp2 NA18999.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0022t0001 a0001c0001t0001 a0001c0022t0001	a0001c0001t0001g0032 a0001c0001t0001g0118 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0022t0001g0154 a0001c0022t0001g0155	6	390	0.0154	-77	c.862 others(92): Show c.862-933_862-857delGTGAATGCGGGTAGGTTGCGTGTGTGTGTG TAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGT	WFS1	ENSG00000109501.15	transcript	ENST00000226760.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
WRAP73_chr1_3625770_3655103	3636245	AAGGGCGG others(70): Show AAGGGCGGCTTGGTCTCCCCGCGCCTGCACTCGTGTGCACACTCTCCCCC TCACCTTTCCTTGCCTGGCCAGCCCCCG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	382	0.0026	-77	c.517 others(92): Show c.517-292_517-216delCGGGGGCTGGCCAGGCAAGGAAAGGTGAGG GGGAGAGTGTGCACACGAGTGCAGGCGCGGGGAGACCAAGCCGCCCT	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	5/11			chr1	TogoVar
WWOX_chr16_78094654_79217667	79141661	TGGCCAGA others(70): Show TGGCCAGAAGGAAGCAGTGTCCATTAGGTTGACTCTCCAGTGCTTCTTGG TGTTGTGATAAGCCCGTCTAGCACGGAG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0008g0086 a0001c0001t0001g0003 a0001c0001t0008g0086	2	142	0.0141	-77	c.105 others(98): Show c.1057-69919_1057-69843delTTGACTCTCCAGTGCTTCTTGGTG TTGTGATAAGCCCGTCTAGCACGGAGGGCCAGAAGGAAGCAGTGTCCATT AGG	WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
XPC_chr3_14140147_14183601	14154795	TAATATTT others(70): Show TAATATTTATAAATATTATAAATTTATTTATATATATAAATATATATAAT TTATAAATATTATAAATTATTATAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0168 a0004c0004t0002g0168	1	374	0.0027	-77	c.203 others(96): Show c.2033+1463_2033+1539delTTTTTATAATAATTTATAATATTTAT AAATTATATATATTTATATATATAAATAAATTTATAATATTTATAAATAT T	XPC	ENSG00000154767.15	transcript	ENST00000285021.12	protein_coding	10/15			chr3	TogoVar
YY1_chr14_100234144_100287788	100257557	TGGGATTA others(70): Show TGGGATTAGTGCCCTATAAAAGAGACTCCAGAGTGCTAGCCCTCTGGTTC TCTCTATGCTATGTGACAAGACAGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0045 a0001c0001t0050g0045	1	348	0.0029	-77	c.680 others(94): Show c.680-4746_680-4670delGGGATTAGTGCCCTATAAAAGAGACTCC AGAGTGCTAGCCCTCTGGTTCTCTCTATGCTATGTGACAAGACAGTGTG	YY1	ENSG00000100811.15	transcript	ENST00000262238.10	protein_coding	1/4			chr14	TogoVar

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