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
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(960): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCT CCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCC TCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTC CCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTC CCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCT CCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0106 a0002c0002t0004g0106	1	278	0.0036	967	c.115 others(984): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCTCCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTC CCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTC CCTCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTC CCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCC CTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(960): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCTCCCC CCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCCCTT CCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCCCCTTCCCTCCCCCC CTCCCCCCTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCC TTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCC CTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCC CCCTTCCCCTTCCTACCCCTCCCCTCCCCCCCTCCCCTCCCCCCTTCGCC TCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCCTCCCCTCCCTTTCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCCT CCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0238 a0001c0012t0001g0238	1	278	0.0036	967	c.115 others(984): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTGCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCTTCCCTC CCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCC CTTCCCTCCCCCCTCCCCCCTTCCCTCCCCCCCTCCCCCCCTTCCCTCCC CCCCTCCCCCCTTCCCTCCCCCCCTCCCCTCCCTTCCCCTCCCCTCCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCCCT CCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCCTCCCCTCCCCCCTTC GCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCCTCCCCTCCCTTTCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(960): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCTGCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCC TCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAA TCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCT CTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCC CTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCC CCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTCCCC CTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCCC TTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTC CCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACC CTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCT TCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCT CCCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0192 a0001c0001t0031g0192	1	194	0.0052	967	c.-12 others(986): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCT GCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCT TCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCT CCCCCCTCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCC CCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCC ACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCC TCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCC CCTCCCTTTTCCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCCTTCCC CCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCT CCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCCTTCCC CTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTTCCCC CTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCC TCCCCCTTCCCCTTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCTT CCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCC CTCACCCTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCT CCCCCTCCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCAT CTCCATCCCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(960): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGGAGGAGGGAGAGAAGGGGGGAG GAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGGAGGGGGGGAGGAGGGAGAGGAGGGGGG AGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAA AAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGA GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGGAGGAGGCGGAGCAGTAGGGA GAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGG AGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAG GGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGA GGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGG GGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGA GGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGA GGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0221 a0001c0006t0001g0221	1	280	0.0036	967	c.641 others(982): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCC CCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCC TTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCCCTCCTCTCCCTCT TCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCT CCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCT CCCTCCTCCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCC CCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCT CCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCT CTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCT CTCCCTCCTCCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCT CCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCC CCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCC TTTTCCCCCTCCTCCCCCCTTCTCTCACTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535835	G G	GGGGGAGC others(960): Show GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCA ATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAG GATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCA GGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGAGTGGGTGG AGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGGGTG GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGAG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGG GTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCTGGGGCAATGG GTGCAGGGTGGGTGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0191 a0003c0015t0001g0191	1	324	0.0031	967	c.140 others(984): Show c.140+8188_140+8189insTCTCCACCCACCCTGCACCCATTGCCCC AGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCT GCACCCATTGCCCCAGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCA CCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCC CCTCTCCACCCACCCTGCACCCATTGCCCCAGGAGGGATCCTGAGTGCTC CCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCAGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTG CACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(960): Show AAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCT CCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACAC CCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACAGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGC GCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGTGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATC TCACACCCGCGAGCAGGTCCCCCTGACCACGGAGCATCTCACACGGGCAA GCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCC CGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGC ATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACG GCGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0199 a0002c0005t0009g0199	1	242	0.0041	967	c.361 others(986): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTG GTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGGACC TGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTTGCCCGT GTGAGATGCTCCGTGGTCAGGGGGACCTGCTCGCGGGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGA TGCACCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCAGGGGGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGT GTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTC TGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGT CGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTG CTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946835	G G	GAATGGGG others(960): Show GAATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGG ATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAG GGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGA GGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGG GGGAGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGA GAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAG GGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAG GGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAG AGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGG GGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGC AAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGA GAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGA GAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGA GAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGA GAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGG GCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGG GAGAGAAAGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0154 a0011c0011t0001g0154	1	308	0.0033	967	c.371 others(984): Show c.3718+656_3718+657insTCTCTCCCTCTTTCTCTCCCTCTTTCTC TCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCACTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCCGC CCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTC TCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTC GCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCAC TCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCC ACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCT CCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACC TCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCC TCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTC TCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTC TCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTTCT CTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCTCT CCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATT	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(960): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGG GGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAA GAGAGAGGGTGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGA GGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGA GGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGA GAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGA GAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	308	0.0033	967	c.371 others(984): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCACCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCC TCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC ACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCC CCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCC CTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCT TCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(960): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGGAGGGGGAGAGGGGGAGAG GGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAA GAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGA GGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGA GGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGA GAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGA GAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0001 a0018c0018t0001	a0018c0018t0001g0285 a0018c0018t0001g0285	1	308	0.0033	967	c.371 others(984): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC ACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCC CCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCC CTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCT TCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(960): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGG GAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAG GGGGGGAGGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAG GGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAA GAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGA GGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGA GGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGA GAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGA GAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0155 a0011c0011t0001g0155	1	308	0.0033	967	c.371 others(984): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCCTCCCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC ACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCC CCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCC CTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCT TCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(960): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGG GAGAGGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGG GGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGA GGGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAG GGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAA GAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGA GGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGA GGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGA GAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGA GAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0168 a0016c0014t0001g0168	1	308	0.0033	967	c.371 others(984): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCCTCTCCCCCTCCTCC CCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCC CTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCT TCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTC TCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(960): Show TGGGGAGAGAAGGGGATGGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAT GGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGG GGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGG GGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGGAGGG GGAGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGG GGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGG GGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGG AGGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAG GGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAA GAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGA GGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGA GGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGA GAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGA GAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0180 a0017c0016t0001g0180	1	308	0.0033	967	c.371 others(984): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCTCCTCCCCCTC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCAC CTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCC CTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCT CTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCCTTCT CTCCCCATCCCCTTCTCTCCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
SART1_chr11_65956734_65985137	65971393	T T	TGCTGAGG others(960): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTCAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	384	0.0026	967	c.157 others(986): Show c.1572+3605_1572+3606insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTCAGGA GGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971393	T T	TGCTGAGG others(960): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG TGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0227 a0001c0002t0002g0227	1	384	0.0026	967	c.157 others(986): Show c.1572+3605_1572+3606insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGTGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGA GGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SMYD3_chr1_245744347_246512279	246071781	C C	CTGTAGTT others(960): Show CTGTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGC TGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCA CTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACT GTGCTCACCGTGGATGCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTT TCCGCTGTGCTCACTGTGGATGCATCGTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCATCCTGTTAGTTCT GGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGC TTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTCGCTGCATCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	150	0.0067	967	c.532 others(988): Show c.532-141845_532-141844insCGATGCAGCGACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA AGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACT AACAGGATGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCC CAGAACTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAAT CCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCA CACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCA CAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACGAT GCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTA ACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCC AGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATC CCTCCCCAGAACTAACACGATGCATCCACAGTGAGCACAGCGGAAAGCAC ACGAATCCCTCCCCAGAACTACACGATGCATCCACGGTGAGCACAGTGGA AAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCA CAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCAGCGACA GTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325070	G G	GGGGGGCG others(960): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGA AGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCG GGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGGCGGGAAGGAGGGAGA AGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGA AGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGG AGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG CGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	150	0.0067	967	c.531 others(984): Show c.531+2130_531+2131insGACTCCTTCTCCCTCCTTCCCGCCCCCC GACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCG CCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCC TTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTC TCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGGCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCT TCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGAC TCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCT TCCCGCCCCCGCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTC TCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGA CTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCCGACTCCTTCTCCCTCCTTCCCGCCCCCGCGACTCCTTCTCCCTCCT TCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCT CCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGAC TCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCC CCGCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCT TCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(960): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT ATATTATATATTATATAACTATATATTATATATTATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATATTATATAACTAT ATATTATATATATATATTATATATTATATAACTATATATTATATATATAT ATTATATATTATATAACATATATTATATATATATATTATATATTATATAA CTATATATTATATATATATATTATATATTATATAACTATATATTATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACATATATTATATATAATATATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02129.hp1 HG02074.hp2 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0062 a0001c0002t0002g0049 a0001c0002t0002g0062	2	268	0.0075	967	c.73 others(978): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATTA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATTATATAACTATATATTATATATATATATTATATATTATATAACTAT ATATTATATATATATATTATATATTATATAACATATATTATATATATATA TTATATATTATATAACTATATATTATATATATATATTATATATTATATAA CTATATATTATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACATATATTATAT ATAATATATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637474	A A	ATTATATA others(960): Show ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATAATATATATATTATA TATTATATAACTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACTATATATTA TATATAATATATATATTATATATTATATAACTATATATTATATATAATAT ATATATTATATATTATATAACTATATATTATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATAATATAACTATAT ATTATATATAATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0226 a0001c0005t0003g0226	1	268	0.0037	967	c.73 others(978): Show c.7319_*7320insTTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATAACTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACTATATATTATATATAATATATATATTATATATTATATAACTATA TATTATATATAATATATATATTATATATTATATAACTATATATTATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATAATATAACTATATATTATATATAATATATAG	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3940		chr10	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(960): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCC ACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCT ATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACC ATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCC ATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTA TCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCAC CCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCAT CATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCAC CCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCAT CCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTAT CCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTAT TCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTAT TCATCCATCCCCCCACCCACCCTATCTATCCACCCATCCACCTATCCTAT TCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACA CTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCAC CCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTA TCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAA TTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTA TTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	1	258	0.0039	967	c.113 others(986): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCTACCCC CCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCA CCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATCC ACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACTA TCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACCA TCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCAC CATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCA TTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCCA TCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACACT GTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCCA TCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCCA CCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCTA TCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCATCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCTA TCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCTA CCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCCT ATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATCC ATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATCT ATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(960): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAA TCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCAT ACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTG TGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTT CTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAGGA TAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0210 a0001c0001t0023g0210	1	432	0.0023	967	c.199 others(984): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTA TGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAA CAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTT GTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGT GTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTG TATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTC ATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCC TAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(960): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTGTG TGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATCCC TTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	432	0.0023	967	c.199 others(984): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATG TGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAG TCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATA TCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTG TGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(960): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTG TCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTGTGTG TGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	432	0.0023	967	c.199 others(984): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTA TGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAAC AGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCA TATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTG TGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(960): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATA TGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGT GTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGC ATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTG TGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGT GTGTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTG TATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATA GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTAT GTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATTTTGTG TGTGTGTGTGTGTGCGTGTATGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	432	0.0023	967	c.199 others(984): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTG TGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGG ATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGT GTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAG TCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTT TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATT GTGTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCT GTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTG TATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCT AAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGA TAACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTG TGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM132D_chr12_129066726_129909025	129828693	G G	GAGGGAGA others(960): Show GAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGGGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGG AGGGAGGGAGGGAGGGAGGAAATGAGGGAGGGAGGGAGGAAAGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	94	0.0106	967	c.79+ others(984): Show c.79+74567_79+74568insTCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTC CTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCATTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCC CCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCTTTCCTCCCTTCCTTCTCCCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129828758	A A	AGGAGGGA others(960): Show AGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAG GAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGAAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGAAGGGAGGGAGGGAGAAGGAAGGGAGGAAAGGAGGGAG GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGAAGAAAAGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0009 a0001c0002t0004g0009	1	94	0.0106	967	c.79+ others(984): Show c.79+74502_79+74503insCTCCTTTTCTTCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTC CTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TSHZ2_chr20_52967358_53500330	53204309	T T	TATGATGA others(960): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATACTATATCATC ATATGATGATATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0023 a0001c0001t0054g0023	1	174	0.0058	967	c.41- others(984): Show c.41-49188_41-49187insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATACTATATCATCATATGATGATATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATATACTATATCATCATATGATGATATGATATACTATAT CATCATATGATGATATGATATACTATATCATCATATGATGATATGATATA CTATATCATCATATGATGATATGATATACTATATCATCATATGATGATAT GATATACTATATCATCATATGATGATATGATATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23042697	T T	TGGGGGGA others(960): Show TGGGGGGACATCATAACTTCACCTGGCCAGAGGTGCTGGGGGGTATCATA ATCCCACCTGGCCAGAGATGCTGGGGGGACATAATAACCCCACCTGCCAG AGGTGCTGGGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGC TGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGATTTC ATAACCCAACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCAACCTGG CCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGG GGGATATCATAATCCCACCTGGCCAGAGATGCTGGGGGGACATCATAACC CCACCTGGCCGGAGGTGCTGGGGGGCGGGGGGAACTTCCTAACCCTACCT GGCCGGAGGTGCTGGGGGTGACTTCATAAATGTCACCAGGCCAGAGGTGC TGGGGGGGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGGACATCA TAACCTCACCTGGCCAGAGGTGCTAGGGGATATCATAATCCCACCTGGCC AGAGATGCTGGGGGGCCATCATAACCCCACCTGGCCAACGGTGCTGTGGG GCCATCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGACTTCATAAATG TCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGG GGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTGGGGGGTA TCATAATCTGACCTGGCCAGAGATGCTGGGGGGACATCATAACCCCACCT GGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTAGCCGGAAGTGTTG GGGGCTGGGGGAACTTCTTAACCCCACCTGGCTAGAGGTGCTGGGGGTGA CTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACCCC ACCTGGCCAGAGGTGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	351	0.0029	967	c.-31 others(978): Show c.-3155_-3154insTAGCACCTCTGGCCAGGTGGGGTTATGAAATCCC CCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTC TAGCCAGGTGGGGTTAAGAAGTTCCCCCAGCCCCCAACACTTCCGGCTAG CTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGATG TCCCCCCAGCATCTCTGGCCAGGTCAGATTATGATACCCCCCAGCACCTC TGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCCCTGGCCAGGTGGGGT TATGAAATCCCCCCCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACC CCCAGCACCTCTGGCCAGGTGGGGTTATGATGGCCCCACAGCACCGTTGG CCAGGTGGGGTTATGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTAT GATATCCCCTAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCA CCTCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGCACCTCTGGCCTGGT GACATTTATGAAGTCACCCCCAGCACCTCCGGCCAGGTAGGGTTAGGAAG TTCCCCCCGCCCCCCAGCACCTCCGGCCAGGTGGGGTTATGATGTCCCCC CAGCATCTCTGGCCAGGTGGGATTATGATATCCCCCTAGCACCTCTGGCC AGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTTGGGTTATGA AATCCCCCCAGCACCTCTGGCCAGGTTGGGTTATGAAATCCCCCCAGCAC CTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTGGCCAGGT GGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCTGGCAGGTGGGGTTA TTATGTCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATACCCCCCAGC ACCTCTGGCCAGGTGAAGTTATGATGTCCCCCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3129		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043430	A A	AGGCCAGA others(960): Show AGGCCAGAGGTGCTGGGGGGGATTTCATAACCCCACCTGGCCAGAGGTGC TGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTAGGGGATATCATA ATCCCACCTGGCCAGAGATGCTGGGGGGCCATCATAACCCCACCTGGCCA ACGGTGCTGTGGGGCCATCATAACCCCACCTGGCCAGAGGTGCTGGGGGT GACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGGATTTCATAACC CCACCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAG GTGCTGGGGGGTATCATAATCTGACCTGGCCAGAGATGCTGGGGGGACAT CATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTA GCCGGAAGTGTTGGGGGCTGGGGGAACTTCTTAACCCCACCTGGCTAGAG GTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCTGGGGGGG ATTTCATAACCCCACCTGGCCAGAGGTGCTAGGGGGACATCATAACCTCA CCTGGCCAGAGGTGCTGGGGGGTATCATAATCCCACCTGGCCAGAGATGC TGGGGGGACATCATAACCCCACCTAGCCAGAGGTGCTGTGGGGCCATCAT AACCCCAGATTGCCTGAGGTGCTGGGGGGCGGGGGGAACTTCATAACCCC ACCCGGCCAGAGGTGCTGGGGGTGACTTCATAAATGTCACCTGGCCAGAG GTGCTGGGGGGATTTCATAACCTAACCTGGCCAGAGGTGCTGGGGGGACA TCTTAACCTCACCTGGCCAGAGGCGCTAGGGGGATATCATAATCCCACCT GGCCAGAGATGCTGGGGGGACATCATAACCCCACCTGGCCGGAGGTGCTG GGGGGCGGGGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGTGGTG ACTTCATAAATGTCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00597.hp1 HG01175.hp1 others(11): Show HG00280.hp2 HG00597.hp1 HG01175.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02559.hp1 HG03239.hp1 HG03831.hp1 HG04204.hp1 HG04228.hp2 NA18988.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0207 a0001c0001t0001g0208 others(10): Show a0001c0001t0001g0025 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0245	14	351	0.0399	967	c.-38 others(978): Show c.-3888_-3887insAGGTGACATTTATGAAGTCACCACCAGCACCTCT GGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACCTCCGGCCAG GTGGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATA TCCCCCTAGCGCCTCTGGCCAGGTGAGGTTAAGATGTCCCCCCAGCACCT CTGGCCAGGTTAGGTTATGAAATCCCCCCAGCACCTCTGGCCAGGTGACA TTTATGAAGTCACCCCCAGCACCTCTGGCCGGGTGGGGTTATGAAGTTCC CCCCGCCCCCCAGCACCTCAGGCAATCTGGGGTTATGATGGCCCCACAGC ACCTCTGGCTAGGTGGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGT GGGATTATGATACCCCCCAGCACCTCTGGCCAGGTGAGGTTATGATGTCC CCCTAGCACCTCTGGCCAGGTGGGGTTATGAAATCCCCCCCAGCACCTCT GGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTAGCCAGGTGGGG TTAAGAAGTTCCCCCAGCCCCCAACACTTCCGGCTAGCTGGGGTTATGAT GGCCCCACAGCACCTCTGGCCAGGTGGGGTTATGATGTCCCCCCAGCATC TCTGGCCAGGTCAGATTATGATACCCCCCAGCACCTCTGGCCAGGTGAGG TTATGATGTCCCCCCAGCACCCCTGGCCAGGTGGGGTTATGAAATCCCCC CCAGCACCTCTGGCCAGGTGACATTTATGAAGTCACCCCCAGCACCTCTG GCCAGGTGGGGTTATGATGGCCCCACAGCACCGTTGGCCAGGTGGGGTTA TGATGGCCCCCCAGCATCTCTGGCCAGGTGGGATTATGATATCCCCTAGC ACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGT GGGGTTATGAAATCCCCCCCAGCACCTCTGGCC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3862		chr15	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GTGTGTGT others(960): Show GTGTGTGTATGTGTGTGTGTGTATATGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTATATGCGTGTGTATGTGTATGTATGTGTATGTGTGTGTGTATGTGTGT GTGTATGTGTGTGTATATGCGTGTATATGCGTGTGTATATGTGTGTGTAT GTGTGTGTATATGCGTGTGTATATGTGTGTATGTGTGTGTATATGTGTGT GTATATGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGT GTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTGT ATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGT GTATATGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGT GTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGT GTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGT GTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTGTATGCGTGTGT ATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGC GTGTGTATGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTGT ATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGT GTGTATGCGTGTGTGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTAT ATGTGTATATGTGTGTGTATATGTGTGTATATGTGTGTGTATATGCGTGT GTATATGCGTGTGTATATGCGTGTGTATGCGTGTGTATGTGTGTGTATGT GTGTGTGTATATGTGTGT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0400 a0002c0002t0005g0400	1	468	0.0021	967	c.-6- others(982): Show c.-6-2965_-6-2964insTGTGTGTATGTGTGTGTGTGTATATGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTATGTGTGTGTG TATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGTGTATGTATGTGTA TGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTATATGCG TGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTA TGTGTGTGTATATGTGTGTGTATATGCGTGTGTGTATGCGTGTGTATATG TGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTA TGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTG TATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTG TATGTGTGTGTATATGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTG TGTGTATATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATG TGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTGTATG TGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTG TGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTG TGTATGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATGCG TGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTG TGTATGTGTGTGTATATGTGTGTATGCGTGTGTGTATGTGTGTGTGTATG TGTGTGTGTATGTGTGTATATGTGTATATGTGTGTGTATATGTGTGTATA TGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGCG TGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(960): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0252 a0001c0003t0003g0252	1	344	0.0029	967	c.218 others(984): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABCB11_chr2_168915781_169036324	168975298	T T	TAGATAAA others(961): Show TAGATAAATATATAAATATTTATATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATT TTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATG TATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATA TATATATAAATATTTATATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATATAAATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATAAATATA TAAATATTTATATATTTATAGATAAATATATAAATATATAAATATTTATA GATAAATATATAAATATATAAATATTTATATATTTATAGATAAATATATA AATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGA TAAATATATAAATATTTATATATTTATAGATAAATATATGAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	306	0.0033	968	c.130 others(987): Show c.1308+1278_1308+1279insTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTCATATATTTATCTATAAATATATAAATATTTATATATTTATCTATAA ATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATAT TTATCTATAAATATATAAATATTTATATATTTATATATTTATCTATAAAT ATTTATATATTTATATATTTATCTATAAATATATAAATATTTATATATTT ATATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCT ATAAATATTTATATATTTATATATTTATCTATAAATATATAAATATTTAT ATATTTATATATTTATCTATAAATATATAAATATTTATATATATATATTT ATCTATAAATATATAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATAT AAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTAT CTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTT ATACATTTATCTATAAATATATAAATATTTATATATTTATCT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ANO9_chr11_412938_447011	431498	C C	CCCGTGGG others(961): Show CCCGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGG CGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGG CGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGGG TATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGG GGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCG GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGGCTTCTG CGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTG GGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGGGGGCGTCCG CGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTG GGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGGGTATCTGGGGGGGCATC TGCGGGGGTGTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	286	0.0035	968	c.539 others(983): Show c.539+195_539+196insACGCCCCCACACCCCCGCAGATGCCCCCCC AGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCCAGATACCCGC GGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCC ACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGAAGCCCCC CCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCC ACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAGCCC CCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCT GCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCC CCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCCCCCCAGATAC CCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGC CCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGACGC CCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAAGCCCCCAGATAC CCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGC CCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCC CTGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCACGGAAGC CCCCAGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATAC CCACGGGAGACCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCAGATGCCCCCCCAGATACCCACGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGEF7_chr13_111110310_111310732	111221356	T T	TATATATC others(961): Show TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGA TATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTA TATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATA TATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTC TATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATA TATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATA GATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATC TATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATA TATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATG TCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATA TATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATA TAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATA TCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTA TATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATA TGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATATA TCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTA TATATATCTATATATAGATATATATGTCTATATATATCTATATATAGATA TATATAGACATATATATCTATATATAGATATATATAGATATATATGTCTA TATATAGATATATATAGAC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0214 a0001c0001t0009g0214	1	274	0.0037	968	c.670 others(985): Show c.670+3482_670+3483insCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATAGATATATATGTCTATATATATCTATATAGATATATAT GTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAGAT ATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTAT ATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATATAT ATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCT ATATATATCTATATAGATATATATGTCTATATATATCTATATAGATATAT ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTATAT ATATCTATATAGATATATATGTCTATATATATCTATATAGATATATATGT CTATATATATCTATATAGATATATATGTCTATATATATCTATATAGATAT ATATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATAT AGATATATATGTCTATATATATCTATATAGATATATATGTCTATATATAT CTATATAGATATATATGTCTATATATATCTATATAGATATATATGTCTAT ATATATCTATATATATCTATATAGATATATATGTCTATATATATCTATAT AGATATATATGTCTATATATATCTATATATAGATATATATGTCTATATAT ATCTATATATAGATATATATAGACATATATATCTATATATAGATATATAT AGATATATATGTCTATATATAGATATATATAGACATATAT	ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr13	TogoVar
ARMH3_chr10_101840599_102061173	101908109	A A	AATGAAAA others(961): Show AATGAAAAAAACTAAAGTAGTTTAAATTTTGTTCCACTAAATACAATTGT ATTGTTTTGGTAGGGCTACATTTCACTTTAACTGCTGCATTGTATAAGAT ATTACTGCTGTATTACAGTACATGTGTTGGGCAGGTGTGTTGTTTCTAGT AATGCATGTAAATACATCATCAATCTAGTTGATGTCAATGGATTCAGTTA AAATGACTTACTTTTTACATATTAATTTAACAATGTAATATATTTACTTA ATATTTTATGTGATAACGTGAGTTACAGCATGGTTTCTCAACATGAGCAC TACTAACATTTGGGGCTACTTTGTTGCTGTGGCTGTCCTGGGCACTGTAG AATGTTTAGCAGCATAGCTGGCCTCTACCTACTACATGCCAGTAATACAT CCTCCTTTCTCCAAGTTGTGACAACTGAAATATAGCAAATGTCCCCCAGA GGGTAAAATCATATCAGTTGAAAACCACCAAGTTACAGTTATGATTACAT AAATCAGAACTGCTAATTAAAGTAAAATAATTACCACTGTGGGTTTTTTC TTTTTCTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTCACCAAG GCTGGAGTGCAATGGCGCAGTCTCAGCTCACTGCAAGCTCCGCCTCCCGA GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGATTACAGGC ATGCACCACGTCACCCGGCTAATTCTGTGTTTTTAGTAGAGAAGGGGTTT CACTGCATTGCCCAGGCTGGTCTCGCACTCCTGACCTCAGGCGATCCACC CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACCACCCCT GGCCCTACTATTATTTTAATTATAATTAAATTTTGTTTCTAGTTTTAAAA AGTAAGTATTGAAAGATTTTTAAATTTAAAAGTGAAGGCACACTATGGAC ACAGAATTGAGTGGAAATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	262	0.0038	968	c.178 others(989): Show c.1782-18620_1782-18619insCATTTCCACTCAATTCTGTGTCCA TAGTGTGCCTTCACTTTTAAATTTAAAAATCTTTCAATACTTACTTTTTA AAACTAGAAACAAAATTTAATTATAATTAAAATAATAGTAGGGCCAGGGG TGGTGGCTTACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGG ATCGCCTGAGGTCAGGAGTGCGAGACCAGCCTGGGCAATGCAGTGAAACC CCTTCTCTACTAAAAACACAGAATTAGCCGGGTGACGTGGTGCATGCCTG TAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCGGG AGGCGGAGCTTGCAGTGAGCTGAGACTGCGCCATTGCACTCCAGCCTTGG TGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAGAAAAAGAAAA AACCCACAGTGGTAATTATTTTACTTTAATTAGCAGTTCTGATTTATGTA ATCATAACTGTAACTTGGTGGTTTTCAACTGATATGATTTTACCCTCTGG GGGACATTTGCTATATTTCAGTTGTCACAACTTGGAGAAAGGAGGATGTA TTACTGGCATGTAGTAGGTAGAGGCCAGCTATGCTGCTAAACATTCTACA GTGCCCAGGACAGCCACAGCAACAAAGTAGCCCCAAATGTTAGTAGTGCT CATGTTGAGAAACCATGCTGTAACTCACGTTATCACATAAAATATTAAGT AAATATATTACATTGTTAAATTAATATGTAAAAAGTAAGTCATTTTAACT GAATCCATTGACATCAACTAGATTGATGATGTATTTACATGCATTACTAG AAACAACACACCTGCCCAACACATGTACTGTAATACAGCAGTAATATCTT ATACAATGCAGCAGTTAAAGTGAAATGTAGCCCTACCAAAACAATACAAT TGTATTTAGTGGAACAAAATTTAAACTACTTTAGTTTTTTTCAT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ATP10A_chr15_25673712_25868327	25758572	C C	CCACCTGC others(961): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACC CTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGA TCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCCATCACCTGCTCCACCCTAACTCATTCCCACCACCTGCTC CACCCTAACTCATTCCTAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0069 a0001c0014t0001g0069	1	300	0.0033	968	c.655 others(987): Show c.655-22432_655-22431insATAGGAATGAGTTAGGGTGGAGCAGG TGGTGGGAATGAGTTAGGGTGGAGCAGGTGATGGGAATGAGTTAGGGTGG AGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTA GGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAAT GAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGT TAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGA ATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG GTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAG CAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCG GAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGAT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAG CAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
CACNA1H_chr16_1148106_1226768	1185649	T T	TCAGCGTG others(961): Show TCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGTGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGCCGGGGGC GGGGTACGTGGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCAGGTGAGTAGACGGCATGCATAGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACG TGGGGGGCGGGTGAGTAGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	338	0.0030	968	c.300 others(985): Show c.300-9322_300-9321insAGCGTGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCG GGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGG CCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATA GGGCCGGGGGTGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCGTGC ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCATAGGGCCGGGGGCGGGGTACGTGGGGGGGCGGGCGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCAGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCATGCATAGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTG CGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTA GGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGTA GGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGAC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44182049	A A	ACACATAC others(961): Show ACACATACACACTCACATACAGACACAACCACACCACACTCACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACATACACACTCACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACATACA GACACAACCACACCACACTCACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACATACACACTCACATACAGACACAAC CACACCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0306 a0008c0008t0002g0306	1	460	0.0022	968	c.193 others(985): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACTCACATACA GACACAACCACACCACACTCACACACACACATACACACTCACATACAGAC ACAACCACACCACACTCACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACAGACACAACCACACCACAC TCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACATACACACT CACATACAGACACAACCACACCACACTCACACACACACATACACACTCAC ATACAGACACAACCACACCACACACACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CHMP1A_chr16_89639435_89662708	89647581	A A	AGTGGAGA others(961): Show AGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTG GGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCG ACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAG ACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCG CGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCG GTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAA AAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGC CGACGTGGGGACCCAGCGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	392	0.0026	968	c.253 others(983): Show c.253-251_253-250insCGACCCCGCGCTGGGTCTCCACGTCGGCGG CCTTTTCTCCACCGACCCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCC CACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCCGCGCTGGGT CTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCACTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGG GTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCAC GTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCC TCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCC CCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCC TCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTA CCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGT CCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTC CCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCC CCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTCC TCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCC CATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCT CCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCC CTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCCTCT CTCCCTGTCCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTC CTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCC CTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCC CCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCT CCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCC TCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCC CTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCT CTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCC CTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCC TCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCT CTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTC TCCTCCTCTCCCTCTCTCCCTGTCCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCC TCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCC CTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCGTCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0313 a0001c0001t0002g0313	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCC CTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTC TCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCC CCTCTCCTCCTCTCCCTCTCTCCGTCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCC TCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCC CTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCC TCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCC CTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTC TCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCC CTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCC TCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCC TCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCC TCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCC CTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTC TCCCTCTCCCTCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCC CTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTC TCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCTG TCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTC TCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCTCT CCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCT CCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCT CCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCC CTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTCT CTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCC CCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCTC CCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCT CTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCCT CTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCC TCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCC TCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCCCAT CCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCC TTCCCCTCTCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATC CTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTC ACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCC TCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTC ACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCC TCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCC TCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCC TCTCTCCCTCTCCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCC CTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTC TCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCC TCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCT CCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCC CTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(961): Show TCTCTCCCCCCTTCTCTCCCTCTCCCTCACCTCCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCCCCCTTCCCCTCTCCC CCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCC CCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTC CTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCT ACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCG TCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCT CCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCC CCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCCTC CTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCC CCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTC TCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCTCTTCTCCTCTCCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTC TCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCC CCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCC CCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	320	0.0031	968	c.380 others(985): Show c.380-7767_380-7766insCCCCTTCTCTCCCTCTCCCTCACCTCCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCCTCC CCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCA CATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTT CCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATC CCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTC CCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTC TCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTC CTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCC CCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCC TCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTC CCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACC CTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCCTCTCCCCCCTCCCCCT CTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCC TCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTC CCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098180	A A	AATATATA others(961): Show AATATATATATAAATATATATAAATATATATATAAATATATGTAAATATA TATAAATATATGTAAATATATATAAATATATGTAAATATATATAAATATA TGTAAATATATATGTAAATATATATAAATATATATAAATATATATAAATA TATATGTAAATATATATAAATATATGTAAATATATATGTAAATATATATA AATATATATGTAAATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATATAAATATATATAAATATATATAAATATATATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATATATAAATATA TATATAAATATATATATAAATATATATATATAAATATATATATAAATATA TATATAAATATATATATATAAATATATATATTAATATATATATAAATATA TATATATAAATATATATAAATATATATTAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATAAATATATATATAAATATATATAAATATATATGTAAATA TATAAATATATATAAATATATATATAAATATGTAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAGTATATATAAATATA TAAATATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0199 a0002c0006t0007g0199	1	264	0.0038	968	c.181 others(987): Show c.1812+3291_1812+3292insATATATTTATATATATTTATATATTT ATATATACTTATATATATTTATATATATTTATATATATTTATATATATTT ATATATATTTACATATTTATATATATATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATATATTTATATATATTTATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATTAATATATATTTATATATATTTATATATATATATTT ATATATATATTAATATATATATTTATATATATATATTTATATATATATTT ATATATATATTTATATATATATATTTATATATATATTTATATATATATTT ATATATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATATTTATATATATTTATATATATTTATATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATATTTATATATATTTATATATATTTACATATATATTTATATAT ATTTACATATATATTTACATATATTTATATATATTTACATATATATTTAT ATATATTTATATATATTTATATATATTTACATATATATTTACATATATTT ATATATATTTACATATATTTATATATATTTACATATATTTATATATATTT ACATATATTTATATATATATTTATATATATTTATATATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
CYSLTR1_chrX_78266468_78332611	78269606	A A	AATACAGA others(961): Show AATACAGAACATATATTATATATAATATATATAAATACAGAATATATATT ATATATAATATATAAATATAGAATATATATTATATATAAATATAGAATAT ATATTATATATAATATTAAATATAGAATATATATTATATATTATATATAA ATATAGAATATATATTATATTATATATAATATAGAATATATATTATATAT GATATATATAAATATAGAATATATATTATATATTATATATAATATATATT ATATATAATATAGAATATAGAATATATATTATATATTATATATAATATAT ATTATATATAATATATATTATATATAATATAGAATATAGAATATATATTA TATATTATATATAATATATATTATATATAATATAGAATATAGAATATATA TTATATATAATATAGAATATAGAATATATATTATATATAATATAGAATAT AGAATATATATTATGTATATATAATATAGAATGTATATTCTATATTATAT ATAATATAGAATATATAATATATTTATATATAATATAGAATATATTCTAT ATAATATAGAATATATAACATATTATATATAAATATAATATATATTCTAT ATTTAATAGAATATATAATATACATTCTATATTTATCTAGAATATATAAT ATATTCTATATAAATATGGAATATATATATATTCTATATATATTATATAT ATATATATATAATAAATATGGAATATATATATATAATATATATTCTATAT ATATATAGAATATATAATATATATTCTATATATATATAGAATATATAATA TATATTCTATATATATATAGAATATATATTATATATATAGAAAATATATT ATATATTCTATATTTATATATAATATATATATTATATTCTATATTTATAT AGAATATAAATATATAATATATAATATTTGTATATGTACTATATATTATA TAATATATATAATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	240	0.0042	968	c.31 others(979): Show c.3126_*3127insATATGTATTATATATATTATATAATATATAGTAC ATATACAAATATTATATATTATATATTTATATTCTATATAAATATAGAAT ATAATATATATATTATATATAAATATAGAATATATAATATATTTTCTATA TATATAATATATATTCTATATATATATAGAATATATATTATATATTCTAT ATATATATAGAATATATATTATATATTCTATATATATATAGAATATATAT TATATATATATATTCCATATTTATTATATATATATATATATAATATATAT AGAATATATATATATTCCATATTTATATAGAATATATTATATATTCTAGA TAAATATAGAATGTATATTATATATTCTATTAAATATAGAATATATATTA TATTTATATATAATATGTTATATATTCTATATTATATAGAATATATTCTA TATTATATATAAATATATTATATATTCTATATTATATATAATATAGAATA TACATTCTATATTATATATACATAATATATATTCTATATTCTATATTATA TATAATATATATTCTATATTCTATATTATATATAATATATATTCTATATT CTATATTATATATAATATATATTATATATAATATATAATATATATTCTAT ATTCTATATTATATATAATATATATTATATATAATATATATTATATATAA TATATAATATATATTCTATATTCTATATTATATATAATATATATTATATA TAATATATAATATATATTCTATATTTATATATATCATATATAATATATAT TCTATATTATATATAATATAATATATATTCTATATTTATATATAATATAT AATATATATTCTATATTTAATATTATATATAATATATATTCTATATTTAT ATATAATATATATTCTATATTTATATATTATATATAATATATATTCTGTA TTTATATATATTATATATAATATATGTTCTGTAT	CYSLTR1	ENSG00000173198.6	transcript	ENST00000373304.4	protein_coding		1861		chrX	TogoVar
DCDC2C_chr2_3698575_3853008	3725575	C C	CGAGCAGA others(961): Show CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	324	0.0031	968	c.340 others(985): Show c.340-1405_340-1404insCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGG AGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725575	C C	CGAGCAGA others(961): Show CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGGAGAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0294 a0001c0001t0004g0294	1	324	0.0031	968	c.340 others(985): Show c.340-1405_340-1404insCGGTGGATCCTGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGATGAGCAGAGAGTGAGG AGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2C_chr2_3698575_3853008	3725575	C C	CGAGCAGA others(961): Show CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCC AGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGG ATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGG AGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTG CCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGT GGATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGATGAGCAGAGAGTGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGGAGAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	324	0.0031	968	c.340 others(985): Show c.340-1405_340-1404insCGGTGGATCCTGGAGGGAGACGAGCAGA GAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCC CGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGG ATCCTGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCA GAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAA GACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAG CAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGA GGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGATGAGCAGAGAGTGAGG AGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGTGAGGAGGCTG CCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGT GGATCCCGGAGGGAGATGAGCAGAGAGGGAGGAGGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DIRAS1_chr19_2709567_2726372	2713405	T T	TCACCTCC others(961): Show TCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCC CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACG CACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCAC CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTC CACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTT CCTACACCCATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCA CGCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACC ACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCC TCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACC CTTCATCCCATTCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCAT CCCATCCCTCACTTCCTCCACGCACCACCCCCTCCACCCTTCATCCCATC CCTCACTTCCTACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	412	0.0024	968	c.38 others(979): Show c.3804_*3805insGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGGGGTGGTGCGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGATGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGAC GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGAATGGGA TGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG GTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGT GTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGA AGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGAGGAAGTGAG GGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGAATGG GATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGGATGGGATGAA GGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGG AGGAGGTGACGGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGG TGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGG GTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGAG GAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1161		chr19	TogoVar

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