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
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(839): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATAATATATAACATATTTTA TTATATATTATATAATAATATATAACATATTATATATTATATAATAATAT ATAACATATTTTATTATATAATATATAATATATTATATAATATATATTTT ATTGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGT ATATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATT GTATATTATATATAATATATTTTATTATATAATTTATTATAATATATATA TTTTATAATATATATAATATATTTTATTATTATATATTTTATTATAATAT ATACAATATATTTTATTATAATATATAATATATTTTATAATATATATATT TTATTATAATATATATATTTTATAATATATATATTTTATAATATATATAT TTTATTATAATATATATTTTATTATATATAATATATTTTATAATATATAT AATATATTTTATTAAATATATATAATATATTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	106	0.0094	846	c.-93 others(863): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATAATATATAACATATTTTATTATATATTATATAATAATATATAACATA TTATATATTATATAATAATATATAACATATTTTATTATATAATATATAAT ATATTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATT ATATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTGTATATTATATATAATATATTTTATTATA TAATTTATTATAATATATATATTTTATAATATATATAATATATTTTATTA TTATATATTTTATTATAATATATACAATATATTTTATTATAATATATAAT ATATTTTATAATATATATATTTTATTATAATATATATATTTTATAATATA TATATTTTATAATATATATATTTTATTATAATATATATTTTATTATATAT AATATATTTTATAATATATATAATATATTTTATTAAATATATATAATATA TTTTATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
SCARA5_chr8_27864883_27997673	27918987	G G	GGAAGGAA others(839): Show GGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGAGGAG GAGGGGAAGGAAGAGGAGGAAGAGGAGAAAGAGGAGGAAAAGGAGGAGGA GAAGAAAGGGGAGAAAGAGGAGGAAAAGGAGGAGGAGAAGGAGGAGGAAG AGAAAAGGAGGAGGAGAAGGGGAAGGAGGAGGAAAAGGAGAAGGAGGAAC AGGAGGAGGAGAAGGAGGAGGAGGGGAAGGAGAAGAAGGAGGAGGAGGGG AAGGAGAAGGAGGAGGAGAGAAGGGAGGAGGAGAGAAGGGAGGAGGAGGA GAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGG AGGAGAAGGCAGAGGAGGAGGAGGAGAAGAAAGAAGAGGAGGAGAAGGAA GAAGAGGAGGAGAAGGAAGAAAGGGCAGAAGAGAAGGAGGAAGAGGAGAA AGAGGAGGAGGAGGAGGGGAAAGAAGAGGATAAGGAAGAAAGGGAAGAGG AGAGGGAAGAAGAGGAGGAGGAGGGGAAGAAAGAGGAGGAGGAGGAGGAG AAAAAGAGGAGGAGGGGAAGGAAAAGAAGGAGGAGGAAAAGCAGGAGGAG AAGGAGGAGGAAGAGAAAAGGAGGAGGAGGGGAAGGAGGAGAAGGAGGAG GAATGGGAGGAGGAGGAGAGAATAGAGGAGGAGGAGGGAATAGAGGAGGA GGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGG AGGAGGGGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGG GAGGAGGAGGAGAGAAGGGAGGAGGAGGAGAGAAGGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp1 HG01169.hp2 others(4): Show HG00741.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG02040.hp2 HG02056.hp2 HG02523.hp2	a0004 a0006 a0004 a0006	a0004c0012 a0006c0026 a0006c0027 a0004c0012 a0006c0026 a0006c0027	a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 others(3): Show a0004c0012t0002 a0004c0012t0005 a0004c0012t0007 a0004c0012t0030 a0006c0026t0008 a0006c0027t0003	a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 others(4): Show a0004c0012t0002g0074 a0004c0012t0005g0136 a0004c0012t0005g0138 a0004c0012t0007g0041 a0004c0012t0030g0039 a0006c0026t0008g0266 a0006c0027t0003g0294	7	48	0.1458	846	c.916 others(863): Show c.916+2583_916+2584insTCCTCCTCCTCCCTTCTCTCCTCCTCCT CCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCC TCCTCCCTTCTCCCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTC CTCCTCCTCCCTTCTCTCCTCCTCCTCTATTCCCTCCTCCTCCTCTATTC TCTCCTCCTCCTCCCATTCCTCCTCCTTCTCCTCCTTCCCCTCCTCCTCC TTTTCTCTTCCTCCTCCTTCTCCTCCTGCTTTTCCTCCTCCTTCTTTTCC TTCCCCTCCTCCTCTTTTTCTCCTCCTCCTCCTCCTCTTTCTTCCCCTCC TCCTCCTCTTCTTCCCTCTCCTCTTCCCTTTCTTCCTTATCCTCTTCTTT CCCCTCCTCCTCCTCCTCTTTCTCCTCTTCCTCCTTCTCTTCTGCCCTTT CTTCCTTCTCCTCCTCTTCTTCCTTCTCCTCCTCTTCTTTCTTCTCCTCC TCCTCCTCTGCCTTCTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCT CTCCTCCTCCTCCCTTCTCTCCTCCTCCTCCCTTCTCTCCTCCTCCCTTC TCTCCTCCTCCTTCTCCTTCCCCTCCTCCTCCTTCTTCTCCTTCCCCTCC TCCTCCTTCTCCTCCTCCTGTTCCTCCTTCTCCTTTTCCTCCTCCTTCCC CTTCTCCTCCTCCTTTTCTCTTCCTCCTCCTTCTCCTCCTCCTTTTCCTC CTCTTTCTCCCCTTTCTTCTCCTCCTCCTTTTCCTCCTCTTTCTCCTCTT CCTCCTCTTCCTTCCCCTCCTCCTCCTCCTCCTTTTCCTCCTCTTTCTCC TCTTCCTCCTCTTCCTTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(839): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	3	0.3333	846	c.597 others(863): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCCTCCCTCCTTCCTT TCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCC TTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCT CCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTC CCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(839): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGGAGGAAAGGAAGGAGGG AGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0124 a0001c0001t0028g0124	1	3	0.3333	846	c.597 others(863): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCCTCCCTCC TTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCT CCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCC TTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCC CTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTC CCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TCF3_chr19_1604292_1657615	1628458	A A	ACGGGGTG others(839): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AAGGGACAGTAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTGGG AAGGGGACACCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGGTG AGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTG AGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0142 a0003c0006t0001g0142	1	319	0.0031	846	c.299 others(863): Show c.299-1033_299-1032insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTGTGAGCTC TGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCTTTCCCGC CTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTC TGCTGTCCCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCG CATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGT TCTGCTGTCCCTTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTC CCGCATCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTG TGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC CTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTACTGTCCCTTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(839): Show CAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAG GGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAG GGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAA GGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGG CGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0282 a0001c0004t0003g0282	1	174	0.0057	846	c.299 others(863): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTC CCACCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTG AGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCA CCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377397	G G	GCCCCCAC others(839): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCC CACCCAGCCTCTCCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCC TGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0108 a0001c0006t0002g0108	1	325	0.0031	846	c.-14 others(857): Show c.-1428_-1427insGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGG TGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGC TGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGG GGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1372		chr19	TogoVar
TH_chr11_2158929_2176815	2161650	G G	GACCCCTG others(839): Show GACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCGGGACCCCT GTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCCGGACCCCTGTCCCC ACACTCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCC GGACCCCTGTCCCCCGGACCCCTGTCCCCACACTCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCC GGACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCC CGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCCGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCAGGACCCCTGTCCCCCGGACCCCTGTCCCCACACTCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0096 a0001c0004t0004g0096	1	292	0.0034	846	c.25 others(857): Show c.2582_*2583insGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGAGTGTGGGGACAGGGGTCCGGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTCTGGGGACAGG GGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAGGGGTGTGG GGACAGGGGTCCGGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACA GGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGAGTGTGGGGACAGGGGTCCGG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGT GGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGAGTGTGGGGACAGGGGTCCGGGGGACAGGGGTCCGGGGGACA GGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2278		chr11	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAAACCC GTCTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTGT GGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGT GACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0027 a0027	a0027c0064 a0027c0064	a0027c0064t0001 a0027c0064t0001	a0027c0064t0001g0122 a0027c0064t0001g0122	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTACTAAAAACACAA AAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATC TCAAAAAACAAACAAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp1 HG01496.hp1 others(4): Show HG01106.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG02300.hp2 HG03540.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0012 a0011c0050 a0001c0012 a0011c0050	a0001c0012t0001 a0001c0012t0004 a0011c0050t0004 a0001c0012t0001 a0001c0012t0004 a0011c0050t0004	a0001c0012t0001g0159 a0001c0012t0001g0234 a0001c0012t0001g0361 others(4): Show a0001c0012t0001g0159 a0001c0012t0001g0234 a0001c0012t0001g0361 a0001c0012t0001g0363 a0001c0012t0004g0039 a0001c0012t0004g0047 a0011c0050t0004g0010	7	134	0.0522	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAACGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp2 others(92): Show HG00140.hp1 HG00280.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp2 HG01175.hp2 HG01433.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02300.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18955.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18993.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0007 a0009 a0020 a0025 a0026	a0001c0009 a0001c0015 a0001c0057 others(13): Show a0001c0009 a0001c0015 a0001c0057 a0002c0001 a0002c0006 a0002c0014 a0002c0027 a0002c0030 a0002c0040 a0004c0024 a0007c0021 a0007c0028 a0009c0042 a0020c0043 a0025c0041 a0026c0039	a0001c0009t0001 a0001c0015t0001 a0001c0057t0001 others(20): Show a0001c0009t0001 a0001c0015t0001 a0001c0057t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0006 a0002c0006t0002 a0002c0014t0002 a0002c0014t0003 a0002c0027t0002 a0002c0027t0003 a0002c0030t0002 a0002c0030t0003 a0002c0040t0002 a0004c0024t0002 a0004c0024t0003 a0007c0021t0003 a0007c0028t0002 a0007c0028t0003 a0009c0042t0001 a0020c0043t0005 a0025c0041t0002 a0026c0039t0002	a0001c0009t0001g0105 a0001c0009t0001g0130 a0001c0009t0001g0141 others(92): Show a0001c0009t0001g0105 a0001c0009t0001g0130 a0001c0009t0001g0141 a0001c0009t0001g0169 a0001c0009t0001g0177 a0001c0009t0001g0249 a0001c0009t0001g0270 a0001c0009t0001g0306 a0001c0009t0001g0325 a0001c0009t0001g0326 a0001c0015t0001g0215 a0001c0057t0001g0121 a0002c0001t0002g0097 a0002c0001t0002g0104 a0002c0001t0002g0107 a0002c0001t0002g0108 a0002c0001t0002g0110 a0002c0001t0002g0111 a0002c0001t0002g0115 a0002c0001t0002g0126 a0002c0001t0002g0132 a0002c0001t0002g0134 a0002c0001t0002g0142 a0002c0001t0002g0143 a0002c0001t0002g0145 a0002c0001t0002g0151 a0002c0001t0002g0157 a0002c0001t0002g0158 a0002c0001t0002g0174 a0002c0001t0002g0178 a0002c0001t0002g0183 a0002c0001t0002g0187 a0002c0001t0002g0189 a0002c0001t0002g0207 a0002c0001t0002g0212 a0002c0001t0002g0213 a0002c0001t0002g0223 a0002c0001t0002g0224 a0002c0001t0002g0230 a0002c0001t0002g0246 a0002c0001t0002g0248 a0002c0001t0002g0251 a0002c0001t0002g0252 a0002c0001t0002g0280 a0002c0001t0002g0285 a0002c0001t0002g0286 a0002c0001t0002g0287 a0002c0001t0002g0294 a0002c0001t0002g0295 a0002c0001t0002g0301 a0002c0001t0002g0305 a0002c0001t0002g0329 a0002c0001t0002g0332 a0002c0001t0002g0337 a0002c0001t0002g0340 a0002c0001t0002g0341 a0002c0001t0002g0347 a0002c0001t0002g0364 a0002c0001t0002g0365 a0002c0001t0002g0388 a0002c0001t0003g0011 a0002c0001t0003g0015 a0002c0001t0003g0018 a0002c0001t0003g0023 a0002c0001t0003g0031 a0002c0001t0003g0051 a0002c0001t0003g0052 a0002c0001t0003g0055 a0002c0001t0003g0062 a0002c0001t0003g0063 a0002c0001t0003g0068 a0002c0001t0003g0076 a0002c0001t0003g0077 a0002c0001t0006g0119 a0002c0006t0002g0211 a0002c0014t0002g0094 a0002c0014t0002g0129 a0002c0014t0002g0137 a0002c0014t0003g0034 a0002c0014t0003g0059 a0002c0014t0003g0386 a0002c0027t0002g0095 a0002c0027t0003g0027 a0002c0030t0002g0324 a0002c0030t0003g0080 a0002c0040t0002g0166 a0004c0024t0002g0267 a0004c0024t0003g0032 a0007c0021t0003g0083 a0007c0028t0002g0162 a0007c0028t0003g0074 a0009c0042t0001g0396 a0020c0043t0005g0373 a0025c0041t0002g0346 a0026c0039t0002g0103	95	222	0.4279	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCTGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCATCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0017 a0017	a0017c0062 a0017c0062	a0017c0062t0004 a0017c0062t0004	a0017c0062t0004g0003 a0017c0062t0004g0003	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCTGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCATCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCTGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0321 a0002c0001t0002g0321	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCTGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTTCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0366 a0002c0001t0002g0366	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTTGAGACAGT GTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCAC TGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCG AGTAGCTGGAATTACAGGCGCCTGCCACCATGCCTGGCTAATTTTTGTAT TGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTC TTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCA GTGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAG AGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTG AGGTGGGAGGATGGCTTGAGCCCAGGAGTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0002 a0018 a0002 a0018	a0002c0045 a0018c0036 a0002c0045 a0018c0036	a0002c0045t0003 a0018c0036t0004 a0002c0045t0003 a0018c0036t0004	a0002c0045t0003g0079 a0018c0036t0004g0005 a0002c0045t0003g0079 a0018c0036t0004g0005	2	129	0.0155	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAG GCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGG GTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGC GCCTGCCACCATGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTT TCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCT GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCG GCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACG GCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTC ATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGA GCCCAGGAGTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGTGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02451.hp1 HG02572.hp1	a0002 a0016 a0002 a0016	a0002c0001 a0016c0049 a0002c0001 a0016c0049	a0002c0001t0002 a0016c0049t0003 a0002c0001t0002 a0016c0049t0003	a0002c0001t0002g0138 a0016c0049t0003g0004 a0002c0001t0002g0138 a0016c0049t0003g0004	2	129	0.0155	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TTGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0106 a0002c0001t0002g0106	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTTGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(839): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACTATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTG TCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCACT GCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGA GTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTATT GTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCTCT TGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG TGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCCAG TGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGA GGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCTGA GGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAACA CAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0389 a0002c0001t0002g0389	1	128	0.0078	846	c.184 others(865): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACTATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGG CTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGG TTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCG CCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTT CACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGG CCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGG CCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCTCA TGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAG CCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTA TGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121748026	G G	GGTAGAAG others(839): Show GGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGG GGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGA AGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGG CACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGG GAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCA CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGACACTGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	274	0.0036	846	c.189 others(861): Show c.189-292_189-291insCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG ACACTGAAGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX3B_chrX_8459830_8471510	8466718	A A	AGGTGGTG others(839): Show AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	126	0.0079	846	c.33 others(855): Show c.335_*336insGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG GGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGCGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		209		chrX	TogoVar
ANO9_chr11_412938_447011	431600	C C	CGTGGGGG others(840): Show CGTGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTG TGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCC CGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATC TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC CGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTG TAGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCC CGTGGGTATCTGGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGC TTCTGCAGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGG GTGTGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGG GCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGATGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGG GCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	33	0.0303	847	c.539 others(860): Show c.539+93_539+94insAGACGCCCCCAGATACCCGCGGGTGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAG ATGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCC AGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGC GGACGCCCCCACATCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCC ACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGC AGAAGCCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCC CCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCC ACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCC GCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGCCC CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATA CCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGACG CCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(840): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACGC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACACACTGGCGG CGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACAC TAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGAC CACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCG AGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCC GTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCAC ACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0170 a0001c0006t0001g0170	1	209	0.0048	847	c.-16 others(858): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCG CTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAAT GAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCCGTG others(840): Show CCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCTGTGACCACT CATTTACAGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCA CTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGTGAGCACTTCCCACCCTGTGACCACACACTGGCGGT GAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGT GACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA CTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	233	0.0043	847	c.-18 others(858): Show c.-1873_-1872insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGG TGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACC GCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCA CGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTG TGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCTGTAA ATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCGCTGTAAATGAGTGGTCACAGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
AVL9_chr7_32490489_32593726	32586357	T T	TGGGAGGT others(840): Show TGGGAGGTGGAGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAA TTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATA GTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTC CTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACT TGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCA TCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGA GTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACA GATCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAAT GAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCG ATTTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCG CCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAG ACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGG GGGCTGACCCCCCCCAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGTGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0279 a0001c0001t0088g0279	1	328	0.0030	847	c.24 others(858): Show c.2467_*2468insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTTTTTTATTGATAATT CTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGT GGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCT AGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTG AGATTAGGGATTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATC TGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGT GGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGA TCAACAGGATCCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGA AAAGTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGAT TTCTCAATCTTTTCCCCACCTTTCCCGCCTTTCTATTCCACAAAGCCGCC ATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGGCACACCTCCCAGAC GGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGG GCTGACCCCCCCCAACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG TGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAGGGA GGTGGAGTTTTTC	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	16/16	2468	INFO_REALIGN_3_PRIME	chr7	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(840): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGG GAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGA AGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGG AAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGA AGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGG GCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGG AGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	8	0.1250	847	c.-70 others(856): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA CGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185607	G G	GGGCCGGG others(840): Show GGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGC ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0033 a0033	a0033c0082 a0033c0082	a0033c0082t0003 a0033c0082t0003	a0033c0082t0003g0096 a0033c0082t0003g0096	1	322	0.0031	847	c.300 others(864): Show c.300-9363_300-9362insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG GGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAMK1D_chr10_12344547_12840545	12413574	G G	GGATGATG others(840): Show GGATGATGATGATAGTACTGGTGGTGGTGATGATGGTGACCATGACAATG GTGATGATGGTGATAATGGTGATGAGTGTGATGGTGATAGTGGTGATGAT GACATTGGGGATGATGGTGACGATGACAGTGGTGTTAATGATGGTGATAA TGGTGATGATGAGTGTGATGGTGATAATGGTGATGATGATGACATTGGGG ATGATGATGATAGTACTGGTGGTGGTGATGATGATGGTGATGGTGATAAT GGTGATGATGTTGAGTGATAATGGTGATGATGATGGTGATGGTGATAATG GTGATGATGTTGAGTATGATGGTGATAATGGTGATGATGATGACAGTGGT GATGATGATGATGACAATGGTGATGGTGATGACAATGGTGATGATGGTGA TAATGGTGATGATGAGTATGATGGTGATAATGGTGATGATGATGACATTG GTGGTGATGATAATAGTACTGGTGGTGGTGATGATGGTGATGATGACAAT GGTGATGATGGTGACGATGACAATGGTGATGATGGTGATAATGGTGATGA TGAGTGTGATGGTGATAATGGTGATGATGAGTATGATGGTGATAATGGTG ATGATGATGACATTGGTGATGATGATGATAGTACTGGTGGTGGTGATGAT GGTGATGATGACAATGGTGATGATGGTGATAATGGTGATGATGAGTATGA TGGTGATAATGGTGATGATGATGACATTGGTGATGATGATGATAGTACTG GTGGTGGTGATGATGATGGTGATGATGATGGTGATGAAGGTGATAATGTT GATGAGTATGGTGGTGATAATGGTGATGATGATGATGACATTGGTGAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	50	0.0200	847	c.92+ others(864): Show c.92+63673_92+63674insGATAGTACTGGTGGTGGTGATGATGGTG ACCATGACAATGGTGATGATGGTGATAATGGTGATGAGTGTGATGGTGAT AGTGGTGATGATGACATTGGGGATGATGGTGACGATGACAGTGGTGTTAA TGATGGTGATAATGGTGATGATGAGTGTGATGGTGATAATGGTGATGATG ATGACATTGGGGATGATGATGATAGTACTGGTGGTGGTGATGATGATGGT GATGGTGATAATGGTGATGATGTTGAGTGATAATGGTGATGATGATGGTG ATGGTGATAATGGTGATGATGTTGAGTATGATGGTGATAATGGTGATGAT GATGACAGTGGTGATGATGATGATGACAATGGTGATGGTGATGACAATGG TGATGATGGTGATAATGGTGATGATGAGTATGATGGTGATAATGGTGATG ATGATGACATTGGTGGTGATGATAATAGTACTGGTGGTGGTGATGATGGT GATGATGACAATGGTGATGATGGTGACGATGACAATGGTGATGATGGTGA TAATGGTGATGATGAGTGTGATGGTGATAATGGTGATGATGAGTATGATG GTGATAATGGTGATGATGATGACATTGGTGATGATGATGATAGTACTGGT GGTGGTGATGATGGTGATGATGACAATGGTGATGATGGTGATAATGGTGA TGATGAGTATGATGGTGATAATGGTGATGATGATGACATTGGTGATGATG ATGATAGTACTGGTGGTGGTGATGATGATGGTGATGATGATGGTGATGAA GGTGATAATGTTGATGAGTATGGTGGTGATAATGGTGATGATGATGATGA CATTGGTGATGATGATGAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(840): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTC CCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0018 a0002c0009t0002g0018	1	56	0.0179	847	c.-29 others(858): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGG GGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGA AGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGG GTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(840): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCC TCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCT CCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTC TCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0252 a0001c0001t0008g0252	1	2	0.5000	847	c.162 others(868): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCC CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCC CCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCC TTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCT CCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(840): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02055.hp2 HG01496.hp1 HG02055.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0012 a0002c0015 a0003c0012	a0002c0015t0002 a0003c0012t0002 a0002c0015t0002 a0003c0012t0002	a0002c0015t0002g0315 a0003c0012t0002g0314 a0002c0015t0002g0315 a0003c0012t0002g0314	2	172	0.0116	847	c.85- others(864): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTG CCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT GCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(840): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0277 a0001c0001t0014g0277	1	312	0.0032	847	c.513 others(862): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(840): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGC CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	312	0.0032	847	c.513 others(862): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232218	G G	GTCACCAC others(840): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGC CACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC CATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	312	0.0032	847	c.513 others(862): Show c.513-959_513-958insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG TCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCG CCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(840): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAAC AGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAACA GAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAAT TTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATAT TTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTTTT ACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	2	0.5000	847	c.-51 others(858): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAGAAAATAATAATAATAATAA TATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAAC TTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACT ACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATCT CACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGG CGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCC CGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTT TTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGG CTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATG AGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DISP3_chr1_11474155_11542551	11522750	A A	ACCCAGCC others(840): Show ACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGC CCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0241 a0003c0008t0013g0241	1	88	0.0114	847	c.236 others(866): Show c.2363-1183_2363-1182insAGCCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(840): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT GGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTT TTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATC CAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGT GAATAGTGCCGCAATAAACATACATGTGCATGTGTCTTTATAGCAGCATG ATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAAT GGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAA TGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTT CTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCC ATTCTAACTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTC TCTGATGGCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	245	0.0041	847	c.627 others(864): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACATGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGAT GACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAATTAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAA AAAAGAAACACCACTTGCA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(840): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT GGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTT TTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATC CAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGT GAATAGTGCCGCAATAAACATACGTGTGCATGTATCTTTATAGCAGCATG ATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAAT GGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAA TGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTT CTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCC ATTCTAACTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTC TCTGATGGCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19085.hp1 NA18944.hp1 NA19085.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0193 a0001c0004t0001g0236 a0001c0004t0001g0193 a0001c0004t0001g0236	2	246	0.0081	847	c.627 others(864): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGATACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGAT GACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAATTAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAA AAAAGAAACACCACTTGCA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC1_chr18_31124236_31167856	31152938	T T	TTGCAAGT others(840): Show TTGCAAGTGGTGTTTCTTTTTTTATTTTTTTTTATTTTTTTATTTTTTTA TTTTTTTTTTAATTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAACTCGTCATCTAGCCTTAGGTATATCTCCCAATGCTA TCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCC CCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAG AATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGAT GGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTT TTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATC CAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGT GAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATG ATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGATCAAAT GGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGACTTCCACAA TGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTT CTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCC ATTCTAACTGGTGTGAGATGATATCTCATAATGGTTTTGATTTGCATTTC TCTGATGGCCAGTGATGATGAGCTCTGAGCTACGGGAGGACATTCAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00597.hp1 others(114): Show HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02630.hp1 HG02698.hp2 HG02895.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0011	a0001c0004 a0001c0018 a0002c0002 others(5): Show a0001c0004 a0001c0018 a0002c0002 a0003c0014 a0003c0019 a0005c0029 a0008c0017 a0011c0035	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(9): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0018t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0012 a0003c0014t0004 a0003c0019t0005 a0005c0029t0002 a0008c0017t0001 a0011c0035t0004	a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0153 others(94): Show a0001c0004t0001g0029 a0001c0004t0001g0033 a0001c0004t0001g0153 a0001c0004t0001g0170 a0001c0004t0001g0171 a0001c0004t0001g0174 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0001g0179 a0001c0004t0001g0209 a0001c0004t0001g0210 a0001c0004t0001g0212 a0001c0004t0001g0213 a0001c0004t0001g0231 a0001c0004t0001g0232 a0001c0004t0001g0234 a0001c0004t0002g0148 a0001c0004t0002g0169 a0001c0004t0002g0178 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0214 a0001c0004t0002g0222 a0001c0004t0002g0225 a0001c0004t0002g0226 a0001c0004t0003g0215 a0001c0018t0002g0173 a0001c0018t0002g0255 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0018 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0120 a0002c0002t0001g0126 a0002c0002t0001g0132 a0002c0002t0001g0140 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0152 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0168 a0002c0002t0001g0172 a0002c0002t0001g0175 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0192 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0211 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0237 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0261 a0002c0002t0002g0217 a0002c0002t0002g0233 a0002c0002t0012g0145 a0003c0014t0004g0141 a0003c0014t0004g0143 a0003c0014t0004g0158 a0003c0019t0005g0200 a0003c0019t0005g0252 a0005c0029t0002g0163 a0008c0017t0001g0293 a0008c0017t0001g0294 a0011c0035t0004g0144	117	361	0.3241	847	c.627 others(864): Show c.627+1835_627+1836insTTTGAATGTCCTCCCGTAGCTCAGAGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCATTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAGG GATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTAT ATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAAGGCTAGAT GACGAGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAATTAAAAAAAAAATAAAAAAATAAAAAAATAAAAAAAAATAAA AAAAGAAACACCACTTGCA	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(840): Show TATATATGAATATATAAATATATATAAATATATATGAATATATAAATATA TATAAATATATAAATATATAAATAAAAATATATAAAAATATATACATATA TAAATATAAATATATAATATATAAATATATAAATATATAAATATATAAAT ATAAATATATAAAAATATATAAATATATAAAAATATATAAATATATAAAT ATATATAAATATATATAAATATATAAATATATAAATATATATAAATATAT AAATATATAAATATATAAAAATATATAAATACATAAATATATAAATATAT AAATATATAAATATATAAATATATATAAGTACATATAAATATATATACAT AAATATATAAATATATAAATATATAAATATATAAATACATAATATATATA AATATAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATA TATAAAAAATATATAAATATATAAAAATATATAAAAAATATATACACATA TAAATATATATAAAAATATATAAATATATATAAAAATATATAAATATATA TTATATATAAATATATAATATATAAATATATATAAATATATAAATATATA TAAATATATACAATATATAAATATATATAAATATATACAATATATAAATA TATATATACAATATATAAATATATATAAATATATACAATATATAAATATA TATAAATATATACAATATATAAATATATATAAATATATACAATATATAAA TATATATAAATATATATAATATATAAATATATATAAATATATAAATATAT ATAAATATATATAATATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp2 HG01074.hp2 others(1): Show HG00642.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0001g0081	4	15	0.2667	847	c.617 others(864): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTATATATTTTTATATATTT ATATATTTTTATATATTTATATTTATATATTTATATATTTATATATTTAT ATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATT TATATATTTATATATTTATATATATTTATATATTCATATATATTTATATA TATTTATATATTCATATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FMN2_chr1_240086883_240480187	240185147	T T	TCCCCTTC others(840): Show TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTGCCTCCTATACCTTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0043 a0043	a0043c0071 a0043c0071	a0043c0071t0002 a0043c0071t0002	a0043c0071t0002g0002 a0043c0071t0002g0002	1	129	0.0078	847	c.193 others(866): Show c.1931-3038_1931-3037insTACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTGCCTCCTATACCTTCC CCCTTCTCTTTCTCCCTCCTA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNG2_chr18_79792938_79905100	79885784	A A	AGGACAGG others(840): Show AGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGAACATG GGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAG GGACATGGGGACACAGGACAGGGAGATGGGGATGGGAACATAGGGATGTG GGGACAGGAACATGGGGACACAAGACAGGGAGATGGGGATGGGAACATAG GGACGTGGGGACGGGAACATGGGGACACGGGACAGGGAGATGGGGATGGG AACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGG GGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACAGGACAGG GAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACG GGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGG GGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGG GACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGG GGACAGGAACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGG GACGTGGGGACAGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGA ACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGG GATGGGAACATAGGGACGTGGGGACGGGAACATGGGGACACGGGACAGGG AGATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGG GACAGGGAGATGGGGATGGGGACGTGGGGACGGGGACATGGGGACACG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02132.hp2 NA18980.hp2 others(2): Show HG01496.hp2 HG02132.hp2 NA18980.hp2 NA19012.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0069 a0002c0002t0002g0093 others(2): Show a0002c0002t0002g0040 a0002c0002t0002g0069 a0002c0002t0002g0093 a0002c0002t0002g0098 a0002c0002t0002g0159	5	261	0.0192	847	c.625 others(866): Show c.625-13216_625-13215insAGGAACATGGGGACACGGGACAGGGA GATGGGGATGGGAACATAGGGACGTGGGGACAGGGACATGGGGACACAGG ACAGGGAGATGGGGATGGGAACATAGGGATGTGGGGACAGGAACATGGGG ACACAAGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACGGGAA CATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGG ACGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGA CGTGGGGACGGGGACATGGGGACACAGGACAGGGAGATGGGGATGGGAAC ATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGA TGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAG ATGGGGATGGGAACATAGGGACGTGGGGACGGGGACATGGGGACACGGGA CAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGAACATGGGGA CACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGACAGGGAC ATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGACGTGGGGA CGGGGACATGGGGACACGGGACAGGGAGATGGGGATGGGAACATAGGGAC GTGGGGACGGGAACATGGGGACACGGGACAGGGAGATGGGGATGGGAACA TAGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGAT GGGGACGTGGGGACGGGGACATGGGGACACGGGACAGGGAGATGGGGATG GGAACATAGGGACGTGGGGAC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMC1_chr1_183018420_183150592	183149418	C C	CCTCCTCA others(840): Show CCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCT CACATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACA CCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTC TCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGC TCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACAC ACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCT CTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAG CCCACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACA CACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCCC TGTCCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCAC AGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCT CACACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCC ACACCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTC CTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCA CACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACC ACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0297 a0001c0003t0003g0297	1	306	0.0033	847	c.66 others(858): Show c.6628_*6629insCTCCTCACACCACAGAGCCCACACCCCTCTCCTC ACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACA CAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCT CACACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACA TCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCAC ACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCT CCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCAC ACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCA CACAGCTCACACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTC TCCTCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGC TCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTGTCCTCCTCA CACACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCAC ACACCACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCC CTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAG AGCCCACACCCCT	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3827		chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(840): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATA AAATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCC CAAAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAG AAGAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATC CTACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTA GATCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01256.hp2 others(4): Show HG01081.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0011 a0001c0001 a0001c0006 a0006c0011	a0001c0001t0001 a0001c0006t0006 a0006c0011t0003 others(1): Show a0001c0001t0001 a0001c0006t0006 a0006c0011t0003 a0006c0011t0008	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0167 others(4): Show a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0167 a0001c0006t0006g0106 a0006c0011t0003g0092 a0006c0011t0003g0093 a0006c0011t0008g0129	7	129	0.0543	847	c.213 others(866): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACACATACATACATACATATCTGTGTGACTGTTAG CCTTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAA AAGGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCAC TTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGAT TACAGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGA TGGGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGA TCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACC ACGTAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCT CCCTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATA TCAGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTC TAGGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(840): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCTGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATATA AAATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTATCC CAAAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATTAG AAGAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAATC CTACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAGTA GATCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04204.hp2 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0213 a0001c0001t0016g0021 a0001c0001t0001g0213 a0001c0001t0016g0021	2	124	0.0161	847	c.213 others(866): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACACATACATACATACATATCTGTGTGACTGTTAG CCTTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTACAA AAGGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCCAC TTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGGAT TACAGGCAGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGAGA TGGGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGTGA TCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACC ACGTAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGCCT CCCTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGATA TCAGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTTTC TAGGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
MAP3K15_chrX_19355059_19520508	19478121	G G	GGAGGGGG others(840): Show GGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGGAGGGGGAGA GGGGGGGAGGGGAGAGGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGAGGG GGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGG GGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGAGGGGGAGAGGGGG GGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGGAGAGGG GGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGAGGGGGGAGAGG GGGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGGAGGGGGGAGAGGGGG AGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGGGG GGAGAGGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGAGGGGGAGAG GGGGGGAGAGAGGGGGAGAGGGGGGAGAGGAGGAGGGGGGAGGGGGGGGA GAGGGGGGGAGGGGGGAAGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGG AGAGGGGGGAGGGGGCGAGAGGGGGGAGGGGGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGA GGGGGAGAGAGGGGAGAGAGAGGGGGGAGAGAGGGGGAGAGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	12	0.0833	847	c.525 others(864): Show c.525+8360_525+8361insTCCCCCTCTCTCCCCCTCTCTCCCCCCT CTCTCTCCCCTCTCTCCCCCTCTCTCCCCCCTCCCCCCTCCCCCCTCCCC CCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCC CTCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCCCCCTCCCCCC TCTCGCCCCCTCCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC TCTTCCCCCCTCCCCCCCTCTCCCCCCCCTCCCCCCTCCTCCTCTCCCCC CTCTCCCCCTCTCTCCCCCCCTCTCCCCCTCTCTCCCCCTCCCCTCCCCC TCTCCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTC CCCCCTCCCCCCTCTCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCTCCCC CTCTCTCCCCCCTCTCTCCCCCTCTCCCCCCTCCTCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCCTCCCCCCCTCTCCCCCC TCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCTCCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCT CCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTC TCCCCCCTCCCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCC CCCCCTCTCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCCCCCCTCTCCCC CTCTCCCCCCTCCCCCCTC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(840): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAAGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGTGGGGGGGAAGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGAGAAGGGGAAAGGGGTGAGGGGAA GGGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGGATGGAGGGGGA GGGGGAGGGGAGGGGGGAGGGGTGGGGAGGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGTGGTG GGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGG GGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG TAGGGGGAGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGAAGAGAGGGAGGGGGA GAGGGGAGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAG GGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0031 a0004c0004t0011g0031	1	8	0.1250	847	c.250 others(862): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCATCCC TCCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCT CCCTCCCTTCCTCCCCTCTCCCCCTCCCTCTCTTCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTTCCCTCCCCCTACCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCACCACCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TCCCCCCTCCCCTCCCCCTCCCCCTCCATCCCTCCCCTCACCCCTTTCCC CCTTCCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCTCCCCTTCC CCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCTTCCCCCCCACCCTTTCC CCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCC CCCCTTCCCCGCCCCTTTTCCCCCTCCCCTTGCCCCTCCCCTTCTCCCCT CCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(840): Show AAGGGGGGAAGGGGGGGAAGGAGGGGGGAAGGAGGGGAAGGAGGGGGAAG GAGGAAGGCGGAAAGGGGGATGGGAGAAGGGGAGGGGCAGGGGGAGGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGG GTGGGGGGAAGGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGG GAAAGGGGTGGGGGGGAAGGGGGGGAAGGGGAAAGGGTGTGGGGGGGAGG GGGGAAGGGGAAAGGGGTGAGGGGGAAGGGGGGAAGGGGGAAAGGGGTGA GGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGAGAGGGAGGGGAGGG AGGGGAGGGGAGGGGAGGGGGAGGGAGGAGGGGAGGGGAGGGGAGGGGGA CGGGGGAGGGGGAGAGGGTGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGG GGAGGGGGGAGGGGGAGGGGAGGGGGAGAGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGAGGAGGGGGAGGGGAGAGGGAAGAGAGGGAGGGGGAGAGGG AGGGAAGGGAGGGGGAGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGG AGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGGAGGGAGGAGGGATGGGAG TGGAGGGGGGAGGGGTGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGGGGAGG GAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	8	0.1250	847	c.250 others(862): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCACCCCTCCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCCTCCCCCTC CACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCC CCTCCCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCTCCCCT CCCCCTCCTCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCC CCTCCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCTCA CCCTCTCCCCCTCCCCCGTCCCCCTCCCCTCCCCTCCCCTCCTCCCTCCC CCTCCCCTCCCCTCCCCTCCCTCCCCTCCCTCTCCCCCTCCCCTCCCCCT CCCCCTCCATCCTCCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCCTC ACCCCTTTCCCCTTCCCCCCTCCCCCCCACACCCTTTCCCCTTCCCCCCC TTCCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCT TCCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCC CCTTCCCCGCCCCTTTTCCCCCCTCCCCCTGCCCCTCCCCTTCTCCCATC CCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCTCCTTCCCCCCTCCT TCCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(840): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGAAGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGG GGAGGAGGGGGAGGGGAGGGGGAGAGGGGAGGGGAGGGGGGAGGGGAGGG GAGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGAG AGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAAG GAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTGC GGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGTG GGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0204 a0001c0003t0002g0204	1	4	0.2500	847	c.279 others(862): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC CTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCTCCCCTCCTCCCTCCCC TTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT TCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCTC CCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCG others(840): Show TCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACAGAGCATCTC ACACGGGCAAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCGCGAG CAGGTCCTCCCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCG CATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACG GCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAG GTCCCCCCGACCATGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACCCACAGGCAGGTCCCCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCC GACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACAGCACATCTCACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	165	0.0061	847	c.361 others(866): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGTGC TGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGT GGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATG CGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCA GGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCT CGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCTCCATGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGG TCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGG ACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGC GCCGTGGTCAGGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCA GGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTGGTCGGGGGGACCTGC TCGCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCCATGGTCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PASK_chr2_241101099_241154472	241115928	A A	ACCGGTCC others(840): Show ACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCAT CCCATTACGCCAGGGACACCCGGTCCTCAAGCATCCCATTACACCAGGGG CCACCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGC ATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGG GGCCACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAA GCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCA GGGGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCCGGTCC CCAAGCATCCCATTACACCAGGGGCCACCCGTCCCCAAGCATCCCATTAC ACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGT CCCCAAGCATCCCATTACGCCAGGGACACCCGGTCCTCAAGCATCCCATT ACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGGCCACCG GTCCCCAAGCATCCCATTACACCAGGGCCACCGGTCCCCAAGCATCCCAT TACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACACCGGGGCCACCC GGTCCCCAAGCATCCCATTACGCCGGGGCCACCCGGTCCTCAAGCATCCC ATTACGCCGGGGCCACCCGGTCCTCAAGCATCCCATTACGCCGGGGCCAC CCGGTCCTCAAGCATCCCATTACGCCGGGGCCACCCGGTCCTCAAGCATC CCATTACGCCGGGGCCACCCGGTCCTCAAGCATCCCATTACGCCGGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0122 a0008c0016t0001g0149 a0008c0016t0001g0122 a0008c0016t0001g0149	2	372	0.0054	847	c.307 others(864): Show c.3073-516_3073-515insCCCCGGCGTAATGGGATGCTTGAGGACC GGGTGGCCCCGGCGTAATGGGATGCTTGAGGACCGGGTGGCCCCGGCGTA ATGGGATGCTTGAGGACCGGGTGGCCCCGGCGTAATGGGATGCTTGAGGA CCGGGTGGCCCCGGCGTAATGGGATGCTTGAGGACCGGGTGGCCCCGGCG TAATGGGATGCTTGGGGACCGGGTGGCCCCGGTGTAATGGGATGCTTGGG GACCGGGTGGCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCTGGT GTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGA GGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGTCCCTG GCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTT GGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACGGGTGGCCCC TGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCGGTGG CCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGG ATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGT GGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATG GGATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCG GGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAA TGGGATGCTTGGGGACCGG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar

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