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
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(605): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTA ATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGAT CGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATA AAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAG CCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGT CTCAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCA GGCTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAG GACTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0234 a0002c0002t0001g0272 a0001c0001t0001g0234 a0002c0002t0001g0272	2	126	0.0159	612	c.433 others(627): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAAGCCGGGCG TGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAG ATCACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCC ATCTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTAT AGTCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136802952	C C	CCCAGGGC others(605): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	291	0.0034	612	c.-52 others(623): Show c.-5245_-5244insCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4995		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803214	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0026 a0001c0003t0001g0026	1	87	0.0115	612	c.-49 others(623): Show c.-4983_-4982insGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4733		chr9	TogoVar
RASA3_chr13_113972783_114137623	114044096	C C	CCCCCCCG others(605): Show CCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCTC TGAGCCCCCCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTC GCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCAC TCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCTCTGAGCCCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCCCGCCCCGCCTCACTCTCTGAGCCCCCCC CCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCC CGCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCGCTGAG CTCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGC TGAGCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCCCGCCTC ACTCGCTGAGCTCCCCCCGCCGCCTCACTCGCTGAGCCCCCCCCCCGCCT CACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCCGCC TCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGC CTCACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	65	0.0154	612	c.278 others(629): Show c.278-3003_278-3002insCTCAGCGAGTGAGGCGGGGGGGAGCTCA GCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCT CAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGC TCAGCGAGTGAGGCGGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGG GAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAGGCGGGG CGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGT GAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGAGA GTGAGGCGGGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTC AGAGAGTGAGGCGGGGCGGGGGGGGGGCTCAGCGAGTGAGGCGGGGCGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGGGGGGGCTCAGAGAGTGAGGCGGGG CGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114113606	A A	ATCCACCC others(605): Show ATCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCAT CAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCA TCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCC ATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTC CATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGT CCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCG TCCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGC GTCCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCG CGTCCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACC GCGTCCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACAC CGCGTCCATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACA CCGCGTCCATCAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0001 a0002c0004t0004g0001	1	43	0.0233	612	c.55+ others(629): Show c.55+18828_55+18829insCTGATGGACGCGGTGTGAGCTGTACGGA CATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTACGG ACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTACG GACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTAC GGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGTA CGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTGT ACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCTG TACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGCT GTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAGC TGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGAG CTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTGA GCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTGTG AGCTGTACGGACATCACTCGCCATGGTGGGTGGA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RC3H2_chr9_122839556_122910359	122866857	T T	TGGCCGCC others(605): Show TGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTGCCCAG TCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGATGTGGGGAGCGCCTTT GCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGAC CCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAG GGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCCCGG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGGGAG GTTGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGTGAGG GGCGCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp2 others(67): Show HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp1 HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp2 HG02738.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03834.hp1 HG04115.hp1 NA18747.hp2 NA18939.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp2 NA19001.hp1 NA19004.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0012 a0002c0003 a0001c0002 a0001c0012 a0002c0003	a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 others(3): Show a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0002t0025 a0001c0012t0002 a0002c0003t0002	a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0049 others(65): Show a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0002g0071 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0143 a0001c0002t0002g0145 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0181 a0001c0002t0008g0050 a0001c0002t0008g0063 a0001c0002t0008g0065 a0001c0002t0016g0064 a0001c0002t0025g0056 a0001c0012t0002g0094 a0002c0003t0002g0014 a0002c0003t0002g0019	70	314	0.2229	612	c.132 others(631): Show c.1326-1201_1326-1200insGGGCAGAGGCGCCCCTCACATCCCCG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCAACCTCCCTCCCGGAC GGAGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCT GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACG CTCCTCACTTCTCAGATGGGCCGGCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGCGGTTGCCGGGCGGAGGGTCTCCTCCCTTCTCAGACGGG GCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCAGGC AGAGGCGCTCCTCACATCCCAGACGGGGCGGTGGGGCAAAGGCGCTCCCC ACATCTCAGACAATGGGTGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GGGATGGCGGCCGGGCAGACGCTTCTCACTTTCCAGACTGGGCAGCCAGG CAGAGGGGCTCCTCACGTCCCAGACGATAGGCGGCC	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RC3H2_chr9_122839556_122910359	122866857	T T	TGGCCGCC others(605): Show TGGCCGCCTATCGTCTGGGACGTGAGGAGCCCCTCTGCCTGGCTGCCCAG TCTGGAAAGTGAGAAGCGTCTGCCCGGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCCGGCCACCCATTGTCTGAGATGTGGGGAGCGCCTTT GCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCTGGCCGCGAC CCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAG GGAGGAGACCCTCCGCCCGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCC CTCCGCCCGGCAGCCGGCCCATCTGAGAAGTGAGGAGCGTCTCCGCCCGG CAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCACCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCTCCGTCCGGGAGGGAG GTTGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGTCCAGGAGGGAGG TTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCGGGGATGTGAGG GGCGCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18951.hp2 HG00673.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0104 a0001c0002t0002g0075 a0001c0002t0002g0104	2	246	0.0081	612	c.132 others(631): Show c.1326-1201_1326-1200insGGGCAGAGGCGCCCCTCACATCCCCG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCTGGA CGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCAACCTCCCTCCCGGAC GGAGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCT GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGCCGGGCGGAGACG CTCCTCACTTCTCAGATGGGCCGGCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGCGGTTGCCGGGCGGAGGGTCTCCTCCCTTCTCAGACGGG GCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGGCCAGGC AGAGGCGCTCCTCACATCCCAGACGGGGCGGTGGGGCAAAGGCGCTCCCC ACATCTCAGACAATGGGTGGCCGGGCAGAGACGCTCCTCACTTCCTAGAT GGGATGGCGGCCGGGCAGACGCTTCTCACTTTCCAGACTGGGCAGCCAGG CAGAGGGGCTCCTCACGTCCCAGACGATAGGCGGCC	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(605): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	81	0.0123	612	c.132 others(629): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPTOR_chr17_80539838_80971368	80743926	G G	GAGCCCTG others(605): Show GAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACT GTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAG CACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTA CTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTG GCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGC CCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTCTCCTGGTTACT AGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTCTCCTGGT TACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCC TGGCTACTAGCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0002 a0001c0073t0002	a0001c0073t0002g0069 a0001c0073t0002g0069	1	120	0.0083	612	c.655 others(631): Show c.655-10076_655-10075insCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACTCTCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SAMD11_chr1_918923_949574	934519	G G	GGCGGCTG others(605): Show GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCG TTACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAGG TGGGCGGGGGAGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0004 a0009c0014t0004	a0009c0014t0004g0257 a0009c0014t0004g0257	1	430	0.0023	612	c.843 others(629): Show c.843-1253_843-1252insGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG03098.hp2 others(1): Show HG02145.hp2 HG02647.hp2 HG03098.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0020 a0003c0003 a0001c0020 a0003c0003	a0001c0020t0001 a0003c0003t0001 a0001c0020t0001 a0003c0003t0001	a0001c0020t0001g0322 a0003c0003t0001g0059 a0003c0003t0001g0066 others(1): Show a0001c0020t0001g0322 a0003c0003t0001g0059 a0003c0003t0001g0066 a0003c0003t0001g0067	4	11	0.3636	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0077 a0004c0015t0001g0077	1	8	0.1250	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0090	1	8	0.1250	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20300.hp2 HG00639.hp1 NA20300.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0038 a0002c0011t0001g0243 a0002c0011t0001g0038 a0002c0011t0001g0243	2	9	0.2222	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0168 a0001c0004t0001g0168	1	8	0.1250	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCAC CCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCC GTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19090.hp1 HG01433.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0012 a0001c0004 a0002c0012	a0001c0004t0001 a0002c0012t0001 a0001c0004t0001 a0002c0012t0001	a0001c0004t0001g0145 a0002c0012t0001g0144 a0001c0004t0001g0145 a0002c0012t0001g0144	2	9	0.2222	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCC ACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCAC CCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCAC CCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCAT CCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCAC CCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG03579.hp2 HG01891.hp1 HG02280.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0159 a0001c0002t0001g0020 a0001c0002t0001g0159	3	10	0.3000	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCCACAC ACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCC ACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCAC CCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCAT CCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCAC CCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02896.hp1 HG01109.hp2 HG02630.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0001 a0001c0002t0001 a0001c0008t0001	a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0008t0001g0172 a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0008t0001g0172	3	10	0.3000	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCCACAC ACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACAC ACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(605): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCC GTCCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAC CCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18979.hp2 NA18992.hp1 HG01346.hp2 NA18979.hp2 NA18992.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0132 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0132 a0001c0004t0001g0151 a0001c0004t0001g0153	3	10	0.3000	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGT CCATCCATCCACCCATCCACCCATCCACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980139	T T	TCCATCCA others(605): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATC CATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCA CACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCACCCATC CATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCCACCCA TCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCACC CATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCA TCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATC CATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCA TCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCA TCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp1 HG02451.hp2 others(1): Show HG00642.hp2 HG01346.hp1 HG02451.hp2 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0051 a0003c0003t0001g0086 a0003c0003t0001g0013 a0003c0003t0001g0051 a0003c0003t0001g0086	4	374	0.0107	612	c.937 others(629): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCACCCATCCAT CCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339802	T T	TCCCCCAC others(605): Show TCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTCC CCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCC CATTCTCCTCACTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCAC TCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCT CCTCATTCTATCCCCCCACAAGCATTGCTTCAACCCTCCCCTACTCTCCT CACTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCCATTCTCCTCAC TCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTACTCTCCTCACTAT CCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCC CCCCACAAGCATAGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCC ACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCAC AAGCATTGCTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAG CATAGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCAT AGCTCCAACCCTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0028 a0001c0054t0028	a0001c0054t0028g0017 a0001c0054t0028g0017	1	272	0.0037	612	c.89- others(625): Show c.89-568_89-567insGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA GTGAGGAGAGTAGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATG AGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGA GTGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGATAGAATGAGGAGAGTG GGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGTGAGGAGAGTAGGGG AGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAATGGGGGAGG GCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTT GAAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGG AGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCA ATGCTTGTGGGGGGATAGAGTGAGGAGAATGGGGGAGGGTTGAAGCAATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCT TGTGGGGGGATAGAATGAGGAGAGTGGGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976289	A A	AGGGTCCC others(605): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACACGAAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCC AGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0014 a0014	a0014c0085 a0014c0085	a0014c0085t0043 a0014c0085t0043	a0014c0085t0043g0010 a0014c0085t0043g0010	1	103	0.0097	612	c.199 others(631): Show c.1994+1775_1994+1776insGTCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACACGAAGGGTCCTCCAGAGAATCACTGAGGGTC CCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGG TCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGG GTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGA GGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(605): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAG GGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGA GGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0039 a0001c0011t0039	a0001c0011t0039g0061 a0001c0011t0039g0061	1	96	0.0104	612	c.199 others(631): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGCCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGA GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4129350	C C	CAGCAGCT others(605): Show CAGCAGCTTGGGGTTGGGTGCCCTGGAATAGAGCAGCTTGGGGTGGGGTG CCCTGGAATAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTA GGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAATA GAGCAGCTTGGAGTGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTG CCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTG GGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGCGGGGTCCCCTGGAGGA GAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCACAGAGGACAGCAGCT TGGGGTGGGATCCCCTGGACTAGAGCAGCTTGGGGTGGAGTCCCCTGGAA TAGAGCAGCTTGGGGTGGGGTGCCCTGGAAGAGAGCAGCTTGGGGTGGGG TCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAGAGCACCT TGGGGTAGGGTGCCCTGGAATAGAGCAGCTCGGGGTGGGGTCCCCTGGAA TAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCAACTTGGGGTTGGG TGCCCTGGAATAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03471.hp1 HG02896.hp1 HG03471.hp1	a0001 a0001	a0001c0040 a0001c0060 a0001c0040 a0001c0060	a0001c0040t0001 a0001c0060t0041 a0001c0040t0001 a0001c0060t0041	a0001c0040t0001g0040 a0001c0060t0041g0080 a0001c0040t0001g0040 a0001c0060t0041g0080	2	116	0.0172	612	c.394 others(629): Show c.3940-502_3940-501insATAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTA GGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGTCCCCTGGAATAGAGCA GCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGCG GGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCA CAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGACTAGAGCAGCTTGGGG TGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAAGAGAG CAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCC TGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTCGGGG TGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAG CAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGCTTGGGGTTGGGTGCCC TGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4129369	G G	GCCCTGGA others(605): Show GCCCTGGAATAGAGCAGCTTGGGGCGGGGTGCCCTGGAATAGAGCAGCTT GGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGG AGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGT CCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTT GGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGG AGAGCAGCTTGGGGCGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGT GCCCTGGAGGAGAGCACAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGA CTAGAGCAGCTTGGGGTGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGG GTGCCCTGGAAGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGC TTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGA ATAGAGCAGCTCGGGGTGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGG GTGCCCTGGAGGAGAGCAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGC TTGGGGTGGGGTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0090 a0002c0090	a0002c0090t0010 a0002c0090t0010	a0002c0090t0010g0047 a0002c0090t0010g0047	1	91	0.0110	612	c.394 others(629): Show c.3940-516_3940-515insCGGGGTGCCCTGGAATAGAGCAGCTTGG GGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAG AGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGTCC CCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTTGG GGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAG AGCAGCTTGGGGCGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTGC CCTGGAGGAGAGCACAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGACT AGAGCAGCTTGGGGTGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGT GCCCTGGAAGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTT AGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAAT AGAGCAGCTCGGGGTGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGT GCCCTGGAGGAGAGCAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGCTT GGGGTGGGGTCCCCTGGAATAGAGCAGCTTGGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4129369	G G	GCCCTGGA others(605): Show GCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAATAGAGCAGCTT GGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGG AGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGT CCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTT GGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGG AGAGCAGCTTGGGGCGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGT GCCCTGGAGGAGAGCACAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGA CTAGAGCAGCTTGGGGTGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGG GTGCCCTGGAAGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGC TTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGA ATAGAGCAGCTCGGGGTGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGG GTGCCCTGGAGGAGAGCAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGC TTGGGGTGGGGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(22): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00639.hp1 HG01099.hp1 HG01109.hp2 HG01243.hp2 HG01891.hp1 HG01934.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03688.hp1 HG04228.hp2 NA20752.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0014 a0016 a0021 a0030	a0001c0002 a0001c0010 a0001c0026 others(20): Show a0001c0002 a0001c0010 a0001c0026 a0001c0027 a0001c0034 a0001c0046 a0001c0062 a0001c0064 a0001c0067 a0001c0071 a0001c0087 a0001c0092 a0001c0095 a0002c0013 a0002c0029 a0002c0041 a0002c0053 a0002c0066 a0004c0003 a0014c0085 a0016c0045 a0021c0068 a0030c0086	a0001c0002t0002 a0001c0002t0004 a0001c0010t0002 others(21): Show a0001c0002t0002 a0001c0002t0004 a0001c0010t0002 a0001c0026t0002 a0001c0027t0020 a0001c0034t0028 a0001c0046t0022 a0001c0062t0053 a0001c0064t0006 a0001c0067t0068 a0001c0071t0057 a0001c0087t0009 a0001c0092t0048 a0001c0095t0029 a0002c0013t0015 a0002c0029t0005 a0002c0041t0007 a0002c0053t0067 a0002c0066t0023 a0004c0003t0003 a0014c0085t0043 a0016c0045t0015 a0021c0068t0014 a0030c0086t0046	a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0010t0002g0085 others(22): Show a0001c0002t0002g0096 a0001c0002t0004g0104 a0001c0010t0002g0085 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0034t0028g0098 a0001c0046t0022g0091 a0001c0062t0053g0042 a0001c0064t0006g0111 a0001c0067t0068g0001 a0001c0071t0057g0031 a0001c0087t0009g0054 a0001c0092t0048g0057 a0001c0095t0029g0050 a0002c0013t0015g0024 a0002c0029t0005g0094 a0002c0041t0007g0108 a0002c0053t0067g0034 a0002c0066t0023g0088 a0004c0003t0003g0070 a0004c0003t0003g0072 a0014c0085t0043g0010 a0016c0045t0015g0046 a0021c0068t0014g0014 a0030c0086t0046g0012	25	115	0.2174	612	c.394 others(629): Show c.3940-502_3940-501insATAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTA GGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGTCCCCTGGAATAGAGCA GCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGCG GGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCA CAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGACTAGAGCAGCTTGGGG TGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAAGAGAG CAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCC TGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTCGGGG TGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAG CAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGCTTGGGGTGGGGTCCCC TGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4129405	G G	GAATAGAG others(605): Show GAATAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTT GGGTGCCCTGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCA GCTTGGAGTGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTG GAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGTG GGGTCCCCTGGAGGAGAGCAGCTTGGGGCGGGGTCCCCTGGAGGAGAGCA GCTTGGGGTGGGGTGCCCTGGAGGAGAGCACAGAGGACAGCAGCTTGGGG TGGGATCCCCTGGACTAGAGCAGCTTGGGGTGGAGTCCCCTGGAATAGAG CAGCTTGGGGTGGGGTGCCCTGGAAGAGAGCAGCTTGGGGTGGGGTCCCC TGGAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGG TAGGGTGCCCTGGAATAGAGCAGCTCGGGGTGGGGTCCCCTGGAATAGAG CAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCAACTTGGGGTTGGGTGCCC TGGAATAGAGCAGCTTGGGGTGGGGTCCCCTGGAATAGAGCAGCTTGGGG TGGGGTGCCCTGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02145.hp1 others(5): Show HG01167.hp1 HG01243.hp1 HG02145.hp1 HG02622.hp2 HG02717.hp1 HG02976.hp2 HG03540.hp2 HG03688.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0015	a0001c0002 a0001c0011 a0001c0014 others(4): Show a0001c0002 a0001c0011 a0001c0014 a0002c0013 a0003c0047 a0009c0019 a0015c0074	a0001c0002t0040 a0001c0011t0039 a0001c0014t0018 others(4): Show a0001c0002t0040 a0001c0011t0039 a0001c0014t0018 a0002c0013t0064 a0003c0047t0038 a0009c0019t0074 a0015c0074t0042	a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0014t0018g0060 others(5): Show a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0002c0013t0064g0023 a0003c0047t0038g0082 a0009c0019t0074g0006 a0015c0074t0042g0081	8	116	0.0690	612	c.394 others(629): Show c.3940-502_3940-501insATAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTAGGGTTGGGTGCCCTGGAGGAGAGCACCTTGGGGTA GGGTGCCCTGGAATAGAGCAGCTTGGAGTGGGGTCCCCTGGAATAGAGCA GCTTGGGGTGGGGTGCCCTGGAGGAGAGCAGCTTGGGGTGGGGTCCCCTG GAGGAGAGCAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTGGGGCG GGGTCCCCTGGAGGAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAGCA CAGAGGACAGCAGCTTGGGGTGGGATCCCCTGGACTAGAGCAGCTTGGGG TGGAGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAAGAGAG CAGCTTGGGGTGGGGTCCCCTGGAGGAGAGCAGCTTAGGGTTGGGTGCCC TGGAGGAGAGCACCTTGGGGTAGGGTGCCCTGGAATAGAGCAGCTCGGGG TGGGGTCCCCTGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGGAGGAGAG CAACTTGGGGTTGGGTGCCCTGGAATAGAGCAGCTTGGGGTGGGGTCCCC TGGAATAGAGCAGCTTGGGGTGGGGTGCCCTGTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	26/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(605): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0145 a0002c0002t0004g0145	1	40	0.0250	612	c.77- others(629): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(605): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0134 a0002c0002t0003g0134	1	45	0.0222	612	c.22+ others(629): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCC CACCCCTTTCCCCTCCCCCCTCCCTCCCCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERF1B_chr5_70020251_70048113	70028552	C C	CAAAAAAA others(605): Show CAAAAAAAAAAAAAAGCCAACTGTGGTGGCGAACACCTGTAATCCTAGCT ACTCGGCAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCGGAGGTT GCGGTGAGCTGAGATCCTGCCATTGCATTCCAGCCTGGGTGACAGAGTGA GACCCTGTCTCAAAAAAACAACAACAAAAAGAAACTGGCTTGGCGTGGTG GCTCATACCTGTTAGCCCAGCACTTTGGGAGGCCGAAGCGGGTGGATTAC CTGAGGTTGGGAGCTCAAGACCATTCTGACCAACATGGAGAAACCCCATC TCTACTAAAAATACAAAATTAGCCAAGTGTGTGGCCGGGCGCGGTGGTTC ACGCCTGTAACCCCAGCACTTTGGGAGGCCCAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCGTCTCTACT AATAATACAAAACTTAGCCGGGCGAGGTGGCAGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGCGAGCCGAGATCGTGCCACTGCCCTCCAGCCTGGGTGACAGAGCG AGACTCCGTCTCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	83	0.0120	612	c.116 others(629): Show c.116+2050_116+2051insAGCCAACTGTGGTGGCGAACACCTGTAA TCCTAGCTACTCGGCAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGG CGGAGGTTGCGGTGAGCTGAGATCCTGCCATTGCATTCCAGCCTGGGTGA CAGAGTGAGACCCTGTCTCAAAAAAACAACAACAAAAAGAAACTGGCTTG GCGTGGTGGCTCATACCTGTTAGCCCAGCACTTTGGGAGGCCGAAGCGGG TGGATTACCTGAGGTTGGGAGCTCAAGACCATTCTGACCAACATGGAGAA ACCCCATCTCTACTAAAAATACAAAATTAGCCAAGTGTGTGGCCGGGCGC GGTGGTTCACGCCTGTAACCCCAGCACTTTGGGAGGCCCAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCTGGTTAACACGGTGAAACCCCG TCTCTACTAATAATACAAAACTTAGCCGGGCGAGGTGGCAGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGCGAGCCGAGATCGTGCCACTGCCCTCCAGCCTGGGTG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERINC2_chr1_31408213_31439678	31431967	T T	TAGGGTGG others(605): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTG GACAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGT GGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0259 a0001c0003t0004g0259	1	320	0.0031	612	c.101 others(629): Show c.1014-975_1014-974insTTAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACA GGATGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGATGGTTAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAC AGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432147	C C	CAGGGTGG others(605): Show CAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGT GGACAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0010	1	184	0.0054	612	c.101 others(629): Show c.1014-812_1014-811insTAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGTTAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATA GGATGGTTAGGGTGGACAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGCZ_chr8_14079845_15243431	14766307	A A	TATATATA others(605): Show TATATATATATTATAAGGGTGACTTGGGGTATAGTTTAGCCAGATTGTAT ATAATTCTGGAGAAATGTAACTCAAAAGAATTTGTTTACTTATTGGATCT TGTTCTAAATGATGAACGTCTTAAAGATAGGATTATATCTTCAAGATAAT ACGTTTCTAACAAAATTGCTGACTTACACAAACTCAACAGATGTTTGTTT AATCAAAAAGACAATAATACTTAATCCATTTTTAGTTTTATTACTTTTAA AAATATATATATTTTTTCTTCTTTAGACAGTGTTTCATTCTGTCACCCAG GCTGGAGTGCAGTACTGCGATCTCGGCTCACTGCAATTTCCACCTCCCAG GCTCAAGCGATTCTTTCACCACAGCCTCCCAAGTAGCTGGGACCACAGGC ACCTGTCACCATGTCCAGCTATTTTTTTTTTTTTTTTGTATTTTTGGGAG AGATGGGGTTTTGCCACGTTGCCCAGGCTGGTCTCCATCTACTGAGCTCA AACAGTCTGCCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAG GCATGGCCCCCAGCCAGATAGGCATATTTTTAAGGAAATGCTATTAAATA TGGAAAAATAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0057 a0001c0001t0083g0057	1	102	0.0098	612	c.40- others(631): Show c.40-211381_40-211380insTTTATTTTTCCATATTTAATAGCATT TCCTTAAAAATATGCCTATCTGGCTGGGGGCCATGCCTCATGCCTGTAAT CCCAGCACTTTAGGAGGCCGAGGCGGGCAGACTGTTTGAGCTCAGTAGAT GGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTCCCAAAAATACA AAAAAAAAAAAAAAATAGCTGGACATGGTGACAGGTGCCTGTGGTCCCAG CTACTTGGGAGGCTGTGGTGAAAGAATCGCTTGAGCCTGGGAGGTGGAAA TTGCAGTGAGCCGAGATCGCAGTACTGCACTCCAGCCTGGGTGACAGAAT GAAACACTGTCTAAAGAAGAAAAAATATATATATTTTTAAAAGTAATAAA ACTAAAAATGGATTAAGTATTATTGTCTTTTTGATTAAACAAACATCTGT TGAGTTTGTGTAAGTCAGCAATTTTGTTAGAAACGTATTATCTTGAAGAT ATAATCCTATCTTTAAGACGTTCATCATTTAGAACAAGATCCAATAAGTA AACAAATTCTTTTGAGTTACATTTCTCCAGAATTATATACAATCTGGCTA AACTATACCCCAAGTCACCCTTATAATATATATATA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SLC25A21_chr14_36672921_37177606	36810878	A A	AAGAAAAG others(605): Show AAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGG GGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGC ATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAA AGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAAT AATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGA TAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTG GGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCA GCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGA AAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAA ATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATTCAGCATAT GATAGAGAAAAGAGTGGGGGAAATAATTCAGCATATGATAGAGAAAAGAG TGGGGGAAATAATTCAGCATATGATAGAGAAAAGAGTGGGGGAAATAATT CAGCATATGATAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0026 a0001c0002t0012g0026	1	38	0.0263	612	c.203 others(629): Show c.203+3039_203+3040insCTATCATATGCTGAATTATTTCCCCCAC TCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCA TATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATT TCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTT CTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCT GAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCC ACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTAT CATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTA TTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTT TTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCTATCATATG CTGAATTATTTCCCCCACTCTTTTCTCTATCATATGCTGAATTATTTCCC CCACTCTTTTCTCTATCATATGCTGAATTATTTCCCCCACTCTTTTCTCT ATCATATGCTGAATTATTTCCCCCACTCTTTTCT	SLC25A21	ENSG00000183032.12	transcript	ENST00000331299.6	protein_coding	3/9			chr14	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(605): Show GCGGGTGAAGGGTGAGGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGG TGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGG GTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGG GGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGC GCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGGAGCGCGGG TGAGGGGTGAGGGGGCGCGCGGGGTGAGGGGTGAGGGGCGCGCGGGTGAG GGGTGAGGGGGAGCGCGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGGGT GAGGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGGTGAGGGGAGCG CGGGTGAGGGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGGCGCGCGGG TGAAGAGTGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGG GTGAGGGGAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAG GGTGAGGGGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0297	1	283	0.0035	612	c.-12 others(623): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCCTCACACTT CACCCGCGCGCCCCTCACCCCCTCACCCGCGCTCCCCTCACCCCCTCACC CGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCT CCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCTCACCCGCGCTCCCCC TCACCCCTCACCCGCGCTCCCCCTCACCCCTCACCCGCGCGCCCCTCACC CCTCACCCCGCGCGCCCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCT CACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCG CGCGCCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCTCACCCGCGCTC CCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCA CCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTC ACCCGCGCGCCCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATTATA others(605): Show ATATTATATTTTATATTATAATATATAATATATATTATATTTTATATTAT AATATATAATATAATATATATTATATTTTATGATATATAATATACATTAT ATTTTATGATATATAATATACATTATATTTTATGATATATAATATACATT ATATTTTATGATATATAATATACATTATATTTTATGATATATAATATACA TTATATTTTATGATATATAATATACATTATATTTTATGATATATAATATA CATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATA TACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAA TATACATTATATTTTATGATATATAATATACATTATATTTTATGATATAT AATATACATTATATTTTATGATATATAATATACATTATATTTTATGATAT ATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGAT ATATAATATATATTATATTTTATGATATATAATATATATTATATTTTATG ATATATATTATATATTATATTTTATGATATATAATATATATTATATTTTA TGATATATAATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA19006.hp1 HG03704.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0254 a0001c0001t0002g0241 a0001c0001t0002g0254	2	162	0.0123	612	c.17 others(631): Show c.174+9791_*174+9792insATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATAATATATATCATAAAATATAAT ATATATTATATATCATAAAATATAATATATATTATATATCATAAAATATA ATATATATTATATATCATAAAATATAATATATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAA AATATAATGTATATTATATATCATAAAATATAATGTATATTATATATCAT AAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATATC ATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATATA TCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTATA TATCATAAAATATAATGTATATTATATATCATAAAATATAATGTATATTA TATATCATAAAATATAATATATATTATATTATATATTATAATATAAAATA TAATATATATTATATATTATAATATAAAATATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1222037	G G	GTCTCTGC others(605): Show GTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCT CTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGC CTATCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCT CTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCT CTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCT CTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCT GTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCT GTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0054 a0004c0014t0001g0054	1	162	0.0062	612	c.719 others(631): Show c.719+12812_719+12813insGCCTCTCTCTGTCTCTGTCTCTCTCT CTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCT ATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGCCTCTCTCTGTCTCTGT CTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCT CTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCT ATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCT CTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCT CTGTCTCTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAAR_chr9_35904490_35916686	35914334	G G	GTGTGTGT others(605): Show GTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	357	0.0028	612	c.36 others(623): Show c.3643_*3644insTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2649		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914334	G G	GTGTGTGT others(605): Show GTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG01261.hp1 others(38): Show HG00733.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02698.hp1 HG03017.hp2 HG03669.hp2 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18747.hp2 NA18943.hp2 NA18967.hp1 NA18970.hp2 NA18977.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	41	397	0.1033	612	c.36 others(623): Show c.3643_*3644insTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2649		chr9	TogoVar
TBC1D22A_chr22_46757650_47180693	46772609	T T	TATATATG others(605): Show TATATATGTATACACATATACATATATATGTATACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATACATATATATGTATACACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	36	0.0278	612	c.62+ others(627): Show c.62+9766_62+9767insTGTATACACATATACATATATATGTATACA CATATACATATATATGTATACACACATATACATATATATGTATACACACA TATACATATATATGTATACACACATATACATATATATGTATACACACATA TACATATATATGTATACACACATATACATATATATGTATACACACATATA CATATATATGTATACACACATATACATATATATGTATACACACATATACA TATATATGTATACACACATATACATATATATGTATACACACATATACATA TATATGTATACACACATATACATATATATGTATACACACATATACATATA TATGTATACACACATATACATATATATGTATACACACATATACATATATA TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATATGTA TACACACATATACATATATATGTATACACACATATACATATATATGTATA CACACATATACATATATATGTATACACACATATACATATATATGTATACA CACATATACATATATATGTATACACACATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(605): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGGGAA GGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAA CTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCG GGAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0002 a0001c0005t0009g0002	1	156	0.0064	612	c.299 others(629): Show c.299-1413_299-1412insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTT CCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCC CGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THEG_chr19_356747_381026	377554	G G	GCCCCACC others(605): Show GCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCCCT GTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCC CCCCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCTCCACCCAGCCTCTCCCCCTCCGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTC TCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0032 a0001c0004t0022g0032	1	345	0.0029	612	c.-15 others(623): Show c.-1585_-1584insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGG GCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAG GCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGAGGG GGAGAGGCTGGGTGGAGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG GGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGTAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGG CACGGGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGG GGTACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1529		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157311676	T T	TAGTGTCC others(605): Show TAGTGTCCCAGTTAGCGCTCACCCGGCCTCATCATAGTGCCGCAGTGTGC ACTCACCTGGCCTCAACATACTGTCCCAGTGTGCGGTCACCTGGCCTCAT CATAGTGTCCCAGTGTCCGCTCACCGAGCATCATCATAGTGCCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCACTGGGCCCTCACCCGGCCTC ATGATAGTGTCCCAGTATGCACTCACATGCACAGATCATAGTGCCACAGT GTGCATTCACCTAGCCTCATCATAGCGCCCCAGTGTGCACTCACCTAGGC TCATCATAGTGTCCCACTGTGTGCTCACCTAGCCCCATTATAGTGCCCCA GTGTGCGCTCAACTGGCCTCATCATAGTGTCCCAGAGTGCGCTCACCTAG CCTCATCATAGTGTGCCAGTGTACCCTCAGCCGGCCTCATCATAGTGTCC CAGTGTGCGCTCACCAGGCCTCATAACAGTGCCCCAGGGTGCGCTCACCT GGCCTCATCATAGTGTCCCAGTGTGCATTCACCTGGCCTCATCATAGTTT CCCAGTGTGCGCTCACCCGGCCTCATCATGGTGTCCCACTGTGCACTCAC CTGGCCTCATCAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19064.hp1 NA18943.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	316	0.0063	612	c.327 others(629): Show c.327+7105_327+7106insGTGATGAGGCCAGGTGAGTGCACAGTGG GACACCATGATGAGGCCGGGTGAGCGCACACTGGGAAACTATGATGAGGC CAGGTGAATGCACACTGGGACACTATGATGAGGCCAGGTGAGCGCACCCT GGGGCACTGTTATGAGGCCTGGTGAGCGCACACTGGGACACTATGATGAG GCCGGCTGAGGGTACACTGGCACACTATGATGAGGCTAGGTGAGCGCACT CTGGGACACTATGATGAGGCCAGTTGAGCGCACACTGGGGCACTATAATG GGGCTAGGTGAGCACACAGTGGGACACTATGATGAGCCTAGGTGAGTGCA CACTGGGGCGCTATGATGAGGCTAGGTGAATGCACACTGTGGCACTATGA TCTGTGCATGTGAGTGCATACTGGGACACTATCATGAGGCCGGGTGAGGG CCCAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCACTAT GATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTGAC CGCACACTGGGACAGTATGTTGAGGCCAGGTGAGTGCACACTGCGGCACT ATGATGAGGCCGGGTGAGCGCTAACTGGGACACT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312045	C C	CATCATAG others(605): Show CATCATAGTGCCCCACTGTGCACTCAACCGGCCTCATCATAGTGTCCCAG TGTGCGCTCACCTAGCCTCATCTTAGTGTTCCAGTGTGCACTCACCTAGC CTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTAATGATAGTATCCC AGTGTGCACTCACCCGGAATCATCATAGTGTCCCAGTGTGCGCTCACCTA GCTTCATCATAATGCCCCAGTGTGAACTCAACTAGCCTCATCATAGTGCC CCAGTCTGCGCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCACTCACC TAGACTCATCATATTACCCCAGTGTGCATTCACCTGGCCTCATCATAGTG TCCCAGTGTGCGCTCACCTAACCCCATCATAGTGCCCCAGTGTGCTCTCA CCTAGCCAAATCATACTGTCCCAGTGTGCACTCACCTAGCCCCATCATAG TGTCCCAATGTGCGCTCACACAGCCTGATCATAGTGTCCGACTGTGCGCT CACCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTCATCAT AGTGCCCCCGTGTGCACACACCGAGCCTCATTATAGTGTCCCAGTGTGTG CTCACCTACCCTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03704.hp2 HG02738.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0141 a0001c0001t0001g0142	2	342	0.0058	612	c.327 others(629): Show c.327+6736_327+6737insAAGGGTAGGTGAGCACACACTGGGACAC TATAATGAGGCTCGGTGTGTGCACACGGGGGCACTATGATGAGGCTAGGT GAGTGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACAGTCGGAC ACTATGATCAGGCTGTGTGAGCGCACATTGGGACACTATGATGGGGCTAG GTGAGTGCACACTGGGACAGTATGATTTGGCTAGGTGAGAGCACACTGGG GCACTATGATGGGGTTAGGTGAGCGCACACTGGGACACTATGATGAGGCC AGGTGAATGCACACTGGGGTAATATGATGAGTCTAGGTGAGTGCACACTG GGGCACTATGATGAGGCCAGGTGAGCGCAGACTGGGGCACTATGATGAGG CTAGTTGAGTTCACACTGGGGCATTATGATGAAGCTAGGTGAGCGCACAC TGGGACACTATGATGATTCCGGGTGAGTGCACACTGGGATACTATCATTA GGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCAC ACTGGAACACTAAGATGAGGCTAGGTGAGCGCACACTGGGACACTATGAT GAGGCCGGTTGAGTGCACAGTGGGGCACTATGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312556	G G	GTGTCACA others(605): Show GTGTCACAGTGTGCGCTAACCTAGCCTCATCATAGTGCCCCAGTGTCCCC TCACCTAGCCTAATCATAGTGTCCCAGTGTGCACTAATCCGGCCTCATCA TAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCTTAGTGTCCCAGTGTGC ACTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTAAT GATAGTGTCCCAGTGTGCACTCACCCGGAATCATCATAGTGTCCAAGTGT GCGCTCCCCTAGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGCCTC ATCATAGTGTCCCAGTGTGCGCTCACCTATCCTCATCGCAGTGTCCCAGT GTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCAACTGGCC TCATCATAGTGTCCCAGTGTACACTCACCCGGCCTCATCATAGTGTCCCC GTGTGCGCTGAGCTAGCCTCATCATAGTGCCCCAGTGTACACTCATCTAG CCTTATCATAGTTTCCCAGTGTGCACTCACCTAGCCTCAACATAGTGCCC CAGTGTGCGTTGAACTGGCCTCATTATAGTGCCCCAGTGTGCAATCACCT AGCCTCATCATAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 NA19043.hp2 HG02886.hp1 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053	3	304	0.0099	612	c.327 others(629): Show c.327+6225_327+6226insTTATGATGAGGCTAGGTGATTGCACACT GGGGCACTATAATGAGGCCAGTTCAACGCACACTGGGGCACTATGTTGAG GCTAGGTGAGTGCACACTGGGAAACTATGATAAGGCTAGATGAGTGTACA CTGGGGCACTATGATGAGGCTAGCTCAGCGCACACGGGGACACTATGATG AGGCCGGGTGAGTGTACACTGGGACACTATGATGAGGCCAGTTGAGCGCA CACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGACACTGCGA TGAGGATAGGTGAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGTG CACACTGGGACACTATGATGAGGCTAGGGGAGCGCACACTTGGACACTAT GATGATTCCGGGTGAGTGCACACTGGGACACTATCATTAGGCTAGGTGAG TGCACACTGGGGCACTATGATGAGGCTAGGTGAGTGCACACTGGGACACT AAGATGAGGCTAGGTGAGCGCACACTGGGACACTATGATGAGGCCGGATT AGTGCACACTGGGACACTATGATTAGGCTAGGTGAGGGGACACTGGGGCA CTATGATGAGGCTAGGTTAGCGCACACTGTGACA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312634	G G	GTGCACTA others(605): Show GTGCACTAATCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCC TCATCTTAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGCCCCA GTGTGCACTCACCTAGCCTAATGATAGTGTCCCAGTGTGCACTCACCCGG AATCATCATAGTGTCCAAGTGTGCGCTCCCCTAGCCTCATCATAGTGTCC CAGTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCT ATCCTCATCGCAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGT CCCAGTGTGCGCTCAACTGGCCTCATCATAGTGTCCCAGTGTACACTCAC CCGGCCTCATCATAGTGTCCCCGTGTGCGCTGAGCTAGCCTCATCATAGT GCCCCAGTGTACACTCATCTAGCCTTATCATAGTTTCCCAGTGTGCACTC ACCTAGCCTCAACATAGTGCCCCAGTGTGCGTTGAACTGGCCTCATTATA GTGCCCCAGTGTGCAATCACCTAGCCTCATCATAATGTCCCAGTGTGCAC TCACCTGCCCTCATCATAGTACCGCAGTATCCACTCACCTAGCCTCATCA TAGTGTCCCAGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0003 a0001c0001t0021g0003	2	324	0.0062	612	c.327 others(629): Show c.327+6147_327+6148insATCTGGGACACTATGATGAGGCTAGGTG AGTGGATACTGCGGTACTATGATGAGGGCAGGTGAGTGCACACTGGGACA TTATGATGAGGCTAGGTGATTGCACACTGGGGCACTATAATGAGGCCAGT TCAACGCACACTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGGGA AACTATGATAAGGCTAGATGAGTGTACACTGGGGCACTATGATGAGGCTA GCTCAGCGCACACGGGGACACTATGATGAGGCCGGGTGAGTGTACACTGG GACACTATGATGAGGCCAGTTGAGCGCACACTGGGACACTATGATGAGGC TAGGTGAGCGCACACTGGGACACTGCGATGAGGATAGGTGAGCGCACACT GGGACACTATGATGAGGCTAGGTGAGTGCACACTGGGACACTATGATGAG GCTAGGGGAGCGCACACTTGGACACTATGATGATTCCGGGTGAGTGCACA CTGGGACACTATCATTAGGCTAGGTGAGTGCACACTGGGGCACTATGATG AGGCTAGGTGAGTGCACACTGGGACACTAAGATGAGGCTAGGTGAGCGCA CACTGGGACACTATGATGAGGCCGGATTAGTGCA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(605): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCC CTCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCT CTCCTCTCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCCCCTC TCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	10	0.1000	612	c.-25 others(631): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCTTCCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(605): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0034 a0007c0034	a0007c0034t0014 a0007c0034t0014	a0007c0034t0014g0049 a0007c0034t0014g0049	1	133	0.0075	612	c.204 others(633): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(605): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0048 a0001c0007t0001g0048	1	133	0.0075	612	c.204 others(633): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGGGGA others(605): Show CGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGA GGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	74	0.0135	612	c.218 others(629): Show c.2182+158_2182+159insGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACG GGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar

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