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
CTDP1_chr18_79674803_79759503	79721860	ATCGTCCA others(53): Show ATCGTCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCC GCCTCCCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0012 a0001c0014t0001g0012	1	378	0.0027	-60	c.241 others(79): Show c.2417+3847_2417+3906delGTCCAGGCTGGAGTGCAGTGGTGCAA TCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79739776	AGGACGGG others(53): Show AGGACGGGTGGGACTCTCATACCCACGGCCGGGACGGGTGGGACTCTCAT ACCCACGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01255.hp2 HG01433.hp2 others(13): Show HG01123.hp1 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01891.hp1 HG02109.hp1 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03486.hp1 HG03654.hp1 HG04228.hp1 NA20300.hp2 NA20905.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013 a0001c0016 a0001c0018 a0010c0030 a0011c0032	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0013t0015 a0001c0016t0001 a0001c0018t0001 a0010c0030t0001 a0011c0032t0001	a0001c0001t0001g0084 a0001c0003t0001g0036 a0001c0003t0001g0038 others(13): Show a0001c0001t0001g0084 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0374 a0001c0008t0001g0201 a0001c0013t0015g0197 a0001c0016t0001g0057 a0001c0018t0001g0085 a0001c0018t0001g0086 a0010c0030t0001g0082 a0011c0032t0001g0083	16	378	0.0423	-60	c.274 others(79): Show c.2747+3631_2747+3690delTCATACCCACGGCCGGGACGGGTGGG ACTCTCATACCCACGGCCGGGACGGGTGGGACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CUL5_chr11_108003898_108112761	108089181	ATAAGTAG others(53): Show ATAAGTAGAAGAGACACTTTGCAGGGGGACATTGATTTTTTTCATGTAAA GTATATCGTTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	312	0.0032	-60	c.131 others(77): Show c.1312-310_1312-251delTAAGTAGAAGAGACACTTTGCAGGGGGA CATTGATTTTTTTCATGTAAAGTATATCGTTG	CUL5	ENSG00000166266.14	transcript	ENST00000393094.7	protein_coding	12/18			chr11	TogoVar
CYP4F11_chr19_15907377_15939529	15931525	CAGAGGAA others(53): Show CAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATG AGTGAGCGAGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG03209.hp1 others(1): Show HG01109.hp2 HG02109.hp1 HG03209.hp1 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0050 a0001c0006t0040 a0001c0006t0108 a0001c0002t0050 a0001c0006t0040 a0001c0006t0108	a0001c0002t0050g0275 a0001c0006t0040g0126 a0001c0006t0040g0127 others(1): Show a0001c0002t0050g0275 a0001c0006t0040g0126 a0001c0006t0040g0127 a0001c0006t0108g0128	4	386	0.0104	-60	c.199 others(77): Show c.199-1984_199-1925delCCTCGCTCACTCATTCCTCTCCTCGCTC ACTCATTCCTCTCCCCGCTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931601	TGAGGAGA others(53): Show TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA20300.hp2 HG02886.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0007 a0001c0006t0107 a0001c0005t0007 a0001c0006t0107	a0001c0005t0007g0071 a0001c0006t0107g0124 a0001c0005t0007g0071 a0001c0006t0107g0124	2	386	0.0052	-60	c.199 others(77): Show c.199-2060_199-2001delGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931721	CGAGGAGA others(53): Show CGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	386	0.0026	-60	c.199 others(77): Show c.199-2180_199-2121delACTCACTCATTCCTCTCCTCACTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932009	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03710.hp2 NA18974.hp2 HG00738.hp2 HG03710.hp2 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0027 a0002c0001t0014 a0002c0001t0156 a0001c0002t0027 a0002c0001t0014 a0002c0001t0156	a0001c0002t0027g0278 a0002c0001t0014g0173 a0002c0001t0156g0346 a0001c0002t0027g0278 a0002c0001t0014g0173 a0002c0001t0156g0346	3	386	0.0078	-60	c.198 others(77): Show c.198+2142_198+2201delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932049	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01261.hp2 HG01943.hp1 others(2): Show HG01070.hp1 HG01261.hp2 HG01943.hp1 NA18747.hp1 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0130 a0002c0001t0004 a0002c0001t0010 others(2): Show a0001c0002t0130 a0002c0001t0004 a0002c0001t0010 a0002c0001t0015 a0002c0001t0099	a0001c0002t0130g0149 a0002c0001t0004g0193 a0002c0001t0010g0290 others(2): Show a0001c0002t0130g0149 a0002c0001t0004g0193 a0002c0001t0010g0290 a0002c0001t0015g0161 a0002c0001t0099g0157	5	386	0.0130	-60	c.198 others(77): Show c.198+2102_198+2161delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932089	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0306 a0001c0002t0008g0306	1	386	0.0026	-60	c.198 others(77): Show c.198+2062_198+2121delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932221	CGAGGAGA others(53): Show CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0275 a0001c0002t0050g0275	1	386	0.0026	-60	c.198 others(77): Show c.198+1930_198+1989delACTCACTCATTCCTCTCCCCACTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932243	GGGAGAGG others(53): Show GGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0272 a0001c0002t0049g0272	1	386	0.0026	-60	c.198 others(77): Show c.198+1908_198+1967delTCGCTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCCCACTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932341	CGAGGAGA others(53): Show CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	386	0.0026	-60	c.198 others(77): Show c.198+1810_198+1869delACTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932363	GGGAGAGG others(53): Show GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGCGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0276 a0001c0002t0027g0276	1	386	0.0026	-60	c.198 others(77): Show c.198+1788_198+1847delTCGCTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932383	GGGAGAGG others(53): Show GGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGG	G G	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0277 a0001c0002t0001g0277	1	386	0.0026	-60	c.198 others(77): Show c.198+1768_198+1827delCCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCTCACTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932489	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18983.hp2 NA18963.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0024 a0001c0002t0001 a0002c0001t0024	a0001c0002t0001g0270 a0002c0001t0024g0186 a0001c0002t0001g0270 a0002c0001t0024g0186	2	386	0.0052	-60	c.198 others(77): Show c.198+1662_198+1721delTTCTCCTCACTCACTCATTCTTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932509	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAG	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0112 a0004c0007t0112	a0004c0007t0112g0210 a0004c0007t0112g0210	1	386	0.0026	-60	c.198 others(77): Show c.198+1642_198+1701delCTCTCCTCACTCACTCATTCTTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932889	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18974.hp2 HG03486.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0027 a0001c0008t0041 a0001c0002t0027 a0001c0008t0041	a0001c0002t0027g0278 a0001c0008t0041g0371 a0001c0002t0027g0278 a0001c0008t0041g0371	2	386	0.0052	-60	c.198 others(77): Show c.198+1262_198+1321delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932949	AGAATGAG others(53): Show AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0090 a0003c0003t0047g0090	1	386	0.0026	-60	c.198 others(77): Show c.198+1202_198+1261delCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933029	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02970.hp1 HG02080.hp1 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0003 a0003c0003t0152 a0001c0002t0003 a0003c0003t0152	a0001c0002t0003g0258 a0003c0003t0152g0073 a0001c0002t0003g0258 a0003c0003t0152g0073	2	386	0.0052	-60	c.198 others(77): Show c.198+1122_198+1181delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933103	AGGAGAGG others(53): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18950.hp2 NA18985.hp1 others(1): Show HG02040.hp2 NA18950.hp2 NA18985.hp1 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0131 a0001c0002t0001 a0001c0002t0008 a0001c0002t0131	a0001c0002t0001g0230 a0001c0002t0008g0305 a0001c0002t0008g0310 others(1): Show a0001c0002t0001g0230 a0001c0002t0008g0305 a0001c0002t0008g0310 a0001c0002t0131g0216	4	386	0.0104	-60	c.198 others(77): Show c.198+1048_198+1107delCCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933289	GGAATGAG others(53): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0193 a0002c0001t0193	a0002c0001t0193g0215 a0002c0001t0193g0215	1	386	0.0026	-60	c.198 others(75): Show c.198+862_198+921delTTCTCCTCACTCACTCATTCTTCTCCTCAC TCACTCATTCCTCTCCTCACTCACTCATTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933805	GAGAAGAA others(53): Show GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0068 a0002c0001t0068	a0002c0001t0068g0045 a0002c0001t0068g0045	1	386	0.0026	-60	c.198 others(75): Show c.198+346_198+405delGCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCTTCTCCTCACTCACTCATTCTTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933845	GAGAGGAA others(53): Show GAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTGAGCGAGAAGAGGAATG AGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 NA18747.hp1 HG01257.hp1 HG01515.hp2 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0001 a0001c0011 a0002c0001	a0001c0011t0146 a0002c0001t0004 a0002c0001t0006 a0001c0011t0146 a0002c0001t0004 a0002c0001t0006	a0001c0011t0146g0197 a0002c0001t0004g0193 a0002c0001t0006g0195 a0001c0011t0146g0197 a0002c0001t0004g0193 a0002c0001t0006g0195	3	386	0.0078	-60	c.198 others(75): Show c.198+306_198+365delGCCCACTCACTCATTCCTCTTCTCGCTCAC TCATTCCTCTGCTCACTCACTCATTCCTCT	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
DAB2IP_chr9_121646634_121790530	121653156	CAGTACTA others(53): Show CAGTACTAAGCCTTTAGTACTCCTTGGAGGGAGTACTAAGCCTTTAGTAC TCCTTGGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(74): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02738.hp1 HG02738.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp1 HG04184.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19030.hp1 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0013 a0001c0021 a0001c0022 a0003c0006 a0004c0008 a0005c0009 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0002t0001 a0001c0002t0032 a0001c0003t0002 a0001c0003t0027 a0001c0005t0002 a0001c0005t0021 a0001c0005t0028 a0001c0005t0029 a0001c0010t0001 a0001c0011t0016 a0001c0013t0012 a0001c0021t0001 a0001c0022t0002 a0003c0006t0002 a0004c0008t0001 a0005c0009t0004 a0010c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(72): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0002g0199 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0006g0192 a0001c0001t0006g0198 a0001c0001t0007g0012 a0001c0001t0024g0183 a0001c0001t0025g0207 a0001c0001t0031g0209 a0001c0002t0001g0203 a0001c0002t0032g0195 a0001c0003t0002g0016 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0184 a0001c0003t0002g0186 a0001c0003t0027g0015 a0001c0005t0002g0014 a0001c0005t0021g0013 a0001c0005t0028g0206 a0001c0005t0029g0217 a0001c0010t0001g0034 a0001c0011t0016g0009 a0001c0013t0012g0193 a0001c0021t0001g0182 a0001c0022t0002g0185 a0003c0006t0002g0001 a0004c0008t0001g0032 a0005c0009t0004g0006 a0010c0018t0001g0038	77	224	0.3438	-60	c.124 others(77): Show c.124+1326_124+1385delGCCTTTAGTACTCCTTGGAGGGAGTACT AAGCCTTTAGTACTCCTTGGAGGGAGTACTAA	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71779150	CATATATA others(53): Show CATATATACGTATATACGTATATATATACACATATATACGTATATACGTA TATATGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp1 HG02109.hp2 others(10): Show HG01346.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03486.hp1 NA18522.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0002	a0001c0001t0001g0022 a0001c0001t0006g0001 a0002c0002t0001g0093 others(10): Show a0001c0001t0001g0022 a0001c0001t0006g0001 a0002c0002t0001g0093 a0002c0002t0002g0065 a0002c0002t0002g0070 a0002c0002t0002g0073 a0002c0002t0003g0062 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0004g0060 a0002c0002t0004g0074 a0003c0003t0002g0005	13	102	0.1275	-60	c.848 others(79): Show c.848+86712_848+86771delATACACATATATACGTATATACGTAT ATATGTGTATATATATACGTATATACGTATATAT	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACT2_chr6_168301904_168324777	168321811	TCTTCTTC others(53): Show TCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0007 a0007c0010t0007	a0007c0010t0007g0008 a0007c0010t0007g0008	1	476	0.0021	-60	c.-22 others(71): Show c.-2238_-2179delGAGAAGGAGAGGAAGAGGAAGAGGAAGAGGAAGA GGAAGAAGAAGAAGAAGAAGAAGAAG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2035		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321835	TCCTCTTC others(53): Show TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0122 a0004c0006t0003g0122	1	476	0.0021	-60	c.-22 others(71): Show c.-2262_-2203delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA GGAAGAGGAAGAGGAAGAGGAAGAGG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2059		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321853	TCCTCTTC others(53): Show TCCTCTTCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0026 a0003c0004t0004g0026	1	476	0.0021	-60	c.-22 others(71): Show c.-2280_-2221delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAGGAAGAGG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2077		chr6	TogoVar
DACT2_chr6_168301904_168324777	168321859	TCCTCTCC others(53): Show TCCTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02717.hp1 others(3): Show HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG03209.hp1 NA19005.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0004c0006 a0005c0007	a0001c0001t0002 a0002c0002t0002 a0002c0003t0010 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0003t0010 a0004c0006t0003 a0005c0007t0004	a0001c0001t0002g0145 a0002c0002t0002g0130 a0002c0003t0010g0125 others(3): Show a0001c0001t0002g0145 a0002c0002t0002g0130 a0002c0003t0010g0125 a0004c0006t0003g0023 a0004c0006t0003g0119 a0005c0007t0004g0129	6	476	0.0126	-60	c.-22 others(71): Show c.-2286_-2227delGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAGG	DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding		2083		chr6	TogoVar
DAP_chr5_10674230_10766234	10758377	TTGGCATT others(53): Show TTGGCATTTGAGGGGTGCTGTTGGCATTTGAGGGGTGCTGTTGGCATTTG AGGGATGCTGC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	372	0.0027	-60	c.55+ others(75): Show c.55+2577_55+2636delGCAGCATCCCTCAAATGCCAACAGCACCCC TCAAATGCCAACAGCACCCCTCAAATGCCA	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	1/3			chr5	TogoVar
DCAKD_chr17_45018344_45056632	45051833	CCGGGAGA others(53): Show CCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGG GCGGGCGGACG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18955.hp2 NA18982.hp2 others(2): Show NA18939.hp2 NA18955.hp2 NA18982.hp2 NA19057.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 a0001c0001t0049	a0001c0001t0007g0096 a0001c0001t0008g0092 a0001c0001t0008g0192 others(2): Show a0001c0001t0007g0096 a0001c0001t0008g0092 a0001c0001t0008g0192 a0001c0001t0033g0098 a0001c0001t0049g0078	5	408	0.0123	-60	c.-64 others(69): Show c.-647_-588delCGTCCGCCCGCCCGCCCAACCTCTCCCGGCCCCGCC CGCCCGCCCGCCCAACCTCTCCCG	DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding		202		chr17	TogoVar
DCC_chr18_52335197_53540899	53047252	ATATATAT others(53): Show ATATATATATATATATATATATATATATATATATATAATTTTATATATAT ATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00733.hp1 others(11): Show HG00099.hp2 HG00280.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01433.hp1 HG01496.hp1 HG02647.hp2 HG02922.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp1 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0002c0004 a0003c0006	a0001c0002t0005 a0001c0003t0003 a0001c0003t0008 others(6): Show a0001c0002t0005 a0001c0003t0003 a0001c0003t0008 a0001c0003t0028 a0001c0005t0007 a0001c0007t0003 a0002c0004t0013 a0002c0004t0014 a0003c0006t0010	a0001c0002t0005g0065 a0001c0003t0003g0041 a0001c0003t0008g0011 others(11): Show a0001c0002t0005g0065 a0001c0003t0003g0041 a0001c0003t0008g0011 a0001c0003t0008g0048 a0001c0003t0028g0076 a0001c0005t0007g0108 a0001c0005t0007g0114 a0001c0007t0003g0025 a0001c0007t0003g0026 a0001c0007t0003g0035 a0001c0007t0003g0099 a0002c0004t0013g0042 a0002c0004t0014g0043 a0003c0006t0010g0001	14	114	0.1228	-60	c.986 others(79): Show c.986-16040_986-15981delTATATATATATATATATATATATAAT TTTATATATATATATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DCC_chr18_52335197_53540899	53428740	CTATATAT others(53): Show CTATATATTTTATATATAATAAATTATATATTATATATTTTATATATAAT AAATTATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01069.hp2 others(14): Show HG00099.hp1 HG00642.hp2 HG01069.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 NA18948.hp1 NA19057.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0001 a0001c0002 a0001c0010 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0010t0003 a0002c0001t0001 a0002c0001t0035	a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0060 others(14): Show a0001c0002t0001g0024 a0001c0002t0001g0029 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0003g0059 a0001c0002t0008g0039 a0001c0002t0016g0047 a0001c0010t0003g0096 a0002c0001t0001g0022 a0002c0001t0001g0036 a0002c0001t0001g0054 a0002c0001t0001g0056 a0002c0001t0001g0079 a0002c0001t0001g0093 a0002c0001t0035g0085	17	114	0.1491	-60	c.316 others(79): Show c.3164-6253_3164-6194delTATATATTTTATATATAATAAATTAT ATATTATATATTTTATATATAATAAATTATATAT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX10_chr11_108660069_108945927	108909322	TCTGTGCC others(53): Show TCTGTGCCCCACTCCCGCCCCTTCCCTTGTCCTGTGCCCCACTCCCGCCC CTTCCCTTGTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	320	0.0031	-60	c.230 others(79): Show c.2305-8452_2305-8393delCACTCCCGCCCCTTCCCTTGTCCTGT GCCCCACTCCCGCCCCTTCCCTTGTCCTGTGCCC	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DEAF1_chr11_639233_700222	653368	CTCTCTCT others(53): Show CTCTCTCTCGCGTGGCTCTGCAGGGGTGTGGAGGGCTCAATAATAGAGGA ACTGTGGACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG04199.hp2 HG01109.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0328 a0001c0003t0001g0182 a0001c0001t0001g0328 a0001c0003t0001g0182	2	345	0.0058	-60	c.159 others(77): Show c.1593+534_1593+593delCTGTCCACAGTTCCTCTATTATTGAGCC CTCCACACCCCTGCAGAGCCACGCGAGAGAGA	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEAF1_chr11_639233_700222	653475	AGAACTGT others(53): Show AGAACTGTGGACAGTCTCTCTCGCGTGGCTCTGCAGGGGTGTGGAGGGCT CAATAATAGAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	345	0.0029	-60	c.159 others(77): Show c.1593+427_1593+486delCTCTATTATTGAGCCCTCCACACCCCTG CAGAGCCACGCGAGAGAGACTGTCCACAGTTC	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	11/11			chr11	TogoVar
DEF6_chr6_35292818_35326771	35323318	TGTGCCTG others(53): Show TGTGCCTGATCAGTCTCCAGGCTGGAGCACAGTGCCTGATCAGTCTCCAG GCTGGAGCACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG03195.hp2 HG02109.hp1 HG02145.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0005t0001g0144 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0005t0001g0144	3	326	0.0092	-60	c.19 others(71): Show c.1909_*1968delGTGCCTGATCAGTCTCCAGGCTGGAGCACAGTGC CTGATCAGTCTCCAGGCTGGAGCACA	DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding		1548		chr6	TogoVar
DEF8_chr16_89943755_89973060	89948850	GGGGACGG others(53): Show GGGGACGGGGCCGGCGGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGT CGGGGCTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02083.hp2 HG02135.hp1 others(3): Show HG00438.hp2 HG02083.hp2 HG02135.hp1 NA18943.hp1 NA18954.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0012 a0001c0001t0002g0181 a0001c0001t0016g0182 a0001c0001t0002g0012 a0001c0001t0002g0181 a0001c0001t0016g0182	6	392	0.0153	-60	c.-10 others(76): Show c.-108+61_-108+120delCCGGCGGGGACGGGGTCGGCGGGGTCGGG GCTGGGAGGGACGGGGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948910	AGGGACGG others(53): Show AGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGACGGGGCTGGGAGGGA CGGGGCCGGCG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04184.hp1 HG02738.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0060 a0001c0002t0005g0061 a0001c0002t0005g0060 a0001c0002t0005g0061	2	392	0.0051	-60	c.-10 others(77): Show c.-108+121_-108+180delTCGGCGGGGACGGGGCTGGGAGGGACGG GGCCGGCGGGGACGGGGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89948980	CCGGCGGG others(53): Show CCGGCGGGGACGGGGCCGGCGGGGTCGGGGCTGGGAGGGACGGGGCCGGC GGGGACGGGGT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0164 a0001c0001t0018g0164	1	392	0.0026	-60	c.-10 others(77): Show c.-108+175_-108+234delACGGGGCCGGCGGGGTCGGGGCTGGGAG GGACGGGGCCGGCGGGGACGGGGTCGGCGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEF8_chr16_89943755_89973060	89949015	AGGGACGG others(53): Show AGGGACGGGGCCGGCGGGGACGGGGTCGGCGGGGTCGGGGCTGGGAGGGA CGGGGCCGGCG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0224 a0001c0003t0008g0224	1	392	0.0026	-60	c.-10 others(77): Show c.-108+226_-108+285delTCGGCGGGGTCGGGGCTGGGAGGGACGG GGCCGGCGGGGACGGGGCCGGCGGGGACGGGG	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DGKB_chr7_14140049_14907751	14641228	TTTTACAA others(53): Show TTTTACAATATAGGGATTTGGTTTACAATATAGGGATTTGGTTTACAATA TAGGGATTTGG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp1 others(38): Show HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG03942.hp1 HG06807.hp2 NA18612.hp1 NA18951.hp1 NA18960.hp1 NA18968.hp2 NA18988.hp2 NA18993.hp2 NA19057.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0002t0022 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0014 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0008t0003 a0001c0013t0017 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0047 others(38): Show a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0140 a0001c0001t0002g0036 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0053 a0001c0002t0004g0088 a0001c0002t0009g0064 a0001c0002t0022g0013 a0001c0002t0040g0068 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0002g0116 a0001c0003t0003g0056 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0002g0112 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0008t0003g0077 a0001c0013t0017g0084 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	41	148	0.2770	-60	c.113 others(81): Show c.1135-11020_1135-10961delCCAAATCCCTATATTGTAAACCAA ATCCCTATATTGTAAACCAAATCCCTATATTGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	13/25			chr7	TogoVar
DIP2B_chr12_50499985_50753657	50579628	AAAAAAAA others(53): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATA TATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0222 a0001c0002t0043g0222	1	284	0.0035	-60	c.101 others(79): Show c.101-46346_101-46287delAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATATATATATATA	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	536334	GGTATCTA others(53): Show GGTATCTATCTGCAAAGACCCTGTTCCCCATAGGGACATCACAGTCCCGG GGGCTAGAGTT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0036	1	88	0.0114	-60	c.86- others(77): Show c.86-49864_86-49805delAACTCTAGCCCCCGGGACTGTGATGTCC CTATGGGGAACAGGGTCTTTGCAGATAGATAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	586992	ATGGCGAG others(53): Show ATGGCGAGGTGCAAACAGTGCAGGGTCTAAGGCCGGACCACCTGGGTCCC TGCTGACAGCG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 HG00597.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0016 a0001c0005t0002g0017 a0001c0005t0002g0016 a0001c0005t0002g0017	2	88	0.0227	-60	c.86- others(79): Show c.86-100522_86-100463delCGCTGTCAGCAGGGACCCAGGTGGTC CGGCCTTAGACCCTGCACTGTTTGCACCTCGCCA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	587001	TGCAAACA others(53): Show TGCAAACAGTGCAGGGTCTAAGGCCGGACCACCTGGGTCCCTGCTGACAG CGTGGCGAGGG	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG01952.hp2 others(10): Show HG01099.hp2 HG01258.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp1 HG02155.hp1 HG02165.hp2 HG02809.hp2 HG03453.hp1 HG03942.hp2 NA18747.hp2 NA18962.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001 a0001c0019t0006	a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0012 a0001c0001t0004g0015 a0001c0001t0005g0024 a0001c0001t0010g0020 a0001c0003t0002g0021 a0001c0004t0001g0086 a0001c0005t0002g0087 a0001c0008t0001g0018 a0001c0008t0001g0019 a0001c0019t0006g0014	13	88	0.1477	-60	c.86- others(79): Show c.86-100531_86-100472delCCCTCGCCACGCTGTCAGCAGGGACC CAGGTGGTCCGGCCTTAGACCCTGCACTGTTTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIPK2A_chr3_143966823_143997368	143978609	TATATATC others(53): Show TATATATCTATATCTATATATATATATATATCTATATATATATATATATA TCTATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01255.hp1 HG01891.hp1 others(18): Show HG00597.hp2 HG01255.hp1 HG01891.hp1 HG02109.hp2 HG02132.hp1 HG02165.hp2 HG02451.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 NA18906.hp2 NA18959.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0002t0002 a0001c0003t0003 a0001c0003t0008 a0001c0004t0011	a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0003g0087 others(14): Show a0001c0001t0002g0175 a0001c0001t0002g0184 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0091 a0001c0001t0006g0051 a0001c0001t0007g0262 a0001c0001t0019g0045 a0001c0002t0002g0208 a0001c0002t0002g0223 a0001c0002t0002g0236 a0001c0003t0003g0015 a0001c0003t0003g0089 a0001c0003t0008g0065 a0001c0004t0011g0238 a0001c0004t0011g0239 a0001c0004t0011g0240	21	408	0.0515	-60	c.657 others(77): Show c.657+5627_657+5686delCTATATCTATATATATATATATATCTAT ATATATATATATATATCTATATATAGATATAT	DIPK2A	ENSG00000181744.9	transcript	ENST00000315691.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DIS3L2_chr2_231956713_232342192	232333176	GCCTCCTC others(53): Show GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCGCTGT CGCCTCCTCCT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp2 HG01169.hp1 others(3): Show HG01081.hp1 HG01167.hp2 HG01169.hp1 HG03239.hp2 HG03834.hp1 NA18982.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0021 a0003c0007t0003g0022 a0003c0007t0003g0023 others(3): Show a0003c0007t0003g0021 a0003c0007t0003g0022 a0003c0007t0003g0023 a0003c0007t0003g0045 a0003c0007t0003g0089 a0003c0007t0003g0302	6	304	0.0197	-60	c.201 others(77): Show c.2011-643_2011-584delTCCTCCTCCTCCTCCTCCTCCTCCGCTG TCGCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DIS3L2	ENSG00000144535.20	transcript	ENST00000325385.12	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
DLC1_chr8_13078361_13519851	13453402	GTGTATAT others(53): Show GTGTATATATATATATATATATGTGTATATATATATGTATATATATACAT ATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0044 a0009c0013t0044	a0009c0013t0044g0022 a0009c0013t0044g0022	1	212	0.0047	-60	c.102 others(81): Show c.1023+45587_1023+45646delTACATATATATATGTATATATATA CATATATATATACACATATATATATATATATATACA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLC1_chr8_13078361_13519851	13453424	GTGTATAT others(53): Show GTGTATATATATATGTATATATATACATATATATATGTATATATATACAT ATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0019 a0009c0018t0019	a0009c0018t0019g0001 a0009c0018t0019g0001	1	212	0.0047	-60	c.102 others(81): Show c.1023+45565_1023+45624delTATACATATATATGTATATATATA CATATATATATGTATATATATACATATATATATACA	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar

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