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
CSMD1_chr8_2930361_4999914	3411987	T T	TATGCACC others(415): Show TATGCACCTATACATGCACGTATATATGCACGTATATATGCACACGTATA TATGCACGTATATATGCACACGTATATATGCACGTATATATGCACACGTA TATATGCACGTATATATGCACGTATATATGCACGTATATATGCACACGTA TATATGCATACGTATATATGCACACGTATATATGCATACGTATATATGCA CACGTATATATGCATACGTATATATGCACACGTATATATGCACGTATATA TGCACATACGTATATATGCACGTATATATGCACATACGTATATATGCACG TATATATGCACATACGTATATATGCACGTATATATGCACATACGTATATA TGCACGTATATATGCACATACGTATATATGCACGTATATATATACATACG TATATATGCACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp1 HG02258.hp2 HG02723.hp1	a0001 a0021 a0001 a0021	a0001c0115 a0021c0038 a0001c0115 a0021c0038	a0001c0115t0042 a0021c0038t0075 a0001c0115t0042 a0021c0038t0075	a0001c0115t0042g0055 a0021c0038t0075g0067 a0001c0115t0042g0055 a0021c0038t0075g0067	2	109	0.0183	422	c.156 others(441): Show c.1562-2383_1562-2382insGTATATATACACGTGCATATATACGT ATGTATATATATACGTGCATATATACGTATGTGCATATATACGTGCATAT ATACGTATGTGCATATATACGTGCATATATACGTATGTGCATATATACGT GCATATATACGTATGTGCATATATACGTGCATATATACGTATGTGCATAT ATACGTGCATATATACGTGTGCATATATACGTATGCATATATACGTGTGC ATATATACGTATGCATATATACGTGTGCATATATACGTATGCATATATAC GTGTGCATATATACGTGCATATATACGTGCATATATACGTGCATATATAC GTGTGCATATATACGTGCATATATACGTGTGCATATATACGTGCATATAT ACGTGTGCATATATACGTGCATATATACGTGCATGTATAGGTGCAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(415): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGG AGGGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0014 a0001c0045t0014	a0001c0045t0014g0010 a0001c0045t0014g0010	1	16	0.0625	422	c.416 others(443): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCT CTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCC CCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATG others(415): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATGTACACATATATATGTGTATATA CATATATACACATATATGTACACATATATATGTGTATATACATATATACA CATATATGTACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATATGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp2 NA18968.hp2 HG00438.hp1 HG02056.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	197	0.0152	422	c.19 others(433): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTGTATATGTGT GTATATATACATATATGTGTATATACGTATATACACATGTGTATATACGT ATATACACATGTGTATATACGTATATACACACATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATG others(415): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATGTACACATATATATGTGTATATA CATATATACACATATATGTACACATATATATGTGTATATACATATATACA CATATATGTACACATATATATGTGTATATACATATATACACATATATGTA CACATATATATGTGTATATACATATATACACATATATGTACACATATATA TGTGTATATATGTGTGTATATACATATATGTGTATATACGTATATACACA TGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG02056.hp1 others(1): Show HG00438.hp1 HG00609.hp1 HG02056.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	202	0.0198	422	c.19 others(433): Show c.1992_*1993insATATATGTGTGTATATACGTATATACACATGTGT ATATACGTATATACACATGTGTATATACGTATATACACATATATGTATAT ATACACACATATACACACATATATGTACACATATATATGTGTATATACAT ATATACACATATATATGTGTATATACATATATACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATGTACACATATATATGTGT ATATACATATATACACATATATGTACACATATATATGTGTATATACATAT ATACACATATATGTACACATATATATGTGTATATACATATATACACATAT ATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTGTAT ATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(415): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	164	0.0061	422	c.-42 others(433): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(415): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAAA ATAAAAATAAAATAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG06807.hp2 HG01081.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0022 a0001c0003 a0002c0022	a0001c0003t0010 a0002c0022t0008 a0001c0003t0010 a0002c0022t0008	a0001c0003t0010g0162 a0002c0022t0008g0161 a0001c0003t0010g0162 a0002c0022t0008g0161	2	150	0.0133	422	c.216 others(441): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1450197	C C	CGAGGTGG others(415): Show CGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCT CGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGTCTCGGTGG CTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTG AGGCGGAGCTGTGAGGGTGAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0031 a0002c0001t0002g0032 a0002c0001t0019g0031	2	33	0.0606	422	c.107 others(441): Show c.107-51169_107-51168insGAGGTGGGCGGCCTCGGTGGCTGAGG CGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGG AGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGC TGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGT GAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAG GGTGAAGACGAGGTGGGCGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGT GAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAA GACGAGGTGGGCGGTCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGAC GAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14			chr8	TogoVar
DMD_chrX_31114222_33216549	33010003	T T	TGTGTACA others(415): Show TGTGTACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATG TGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACA TGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATGTACA CATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATGTA CACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTATG TACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTGTA TGTACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATGTG TATGTACACATGTGCGTGCACATGTGTATGTACACATGTGCGTGCACATG TGTATGTACACATGTGTGTGCAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0030 a0004c0012t0001g0030	1	113	0.0088	422	c.93+ others(439): Show c.93+10135_93+10136insGTGCACACACATGTGTACATACACATGT GCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATACACAT GTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATACAC ATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACATAC ACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTACAT ACACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGTAC ATACACATGTGCACGCACATGTGTACATACACATGTGCACGCACATGTGT ACATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGT GTACATACACATGTGCACACACATGTGTACATACACATGTACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DOCK1_chr10_126900428_127457516	126928387	T T	TCAGTATT others(415): Show TCAGTATTCTTAAGCCTCCAGCTTAAGATGTGGTTATGCTAGATTAGGGT GGGCCTTTAATCCAGGATGCCTGGTGTCCTTGTTAAGAAGAGGAGGGACA CATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCAT GTGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACT TGTAAACTTGCCCAGTATTCTTAAGCCTCCAGCTTAAGGTGTGGTCATAC TGGGTTAGGGTGGGCCTTTAATCCAATATGCGTGATGTCCTTGTTAAGAA GAGGAGGGACGCATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGG CTGGTGTCCATGTGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCT GCAGTCTGACTTGTGAACTTGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG06807.hp2 HG02572.hp1 HG06807.hp2	a0001 a0001	a0001c0015 a0001c0033 a0001c0015 a0001c0033	a0001c0015t0001 a0001c0033t0007 a0001c0015t0001 a0001c0033t0007	a0001c0015t0001g0127 a0001c0033t0007g0087 a0001c0015t0001g0127 a0001c0033t0007g0087	2	129	0.0155	422	c.46+ others(439): Show c.46+22857_46+22858insTATGCTAGATTAGGGTGGGCCTTTAATC CAGGATGCCTGGTGTCCTTGTTAAGAAGAGGAGGGACACATGAGAACTCA GCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCATGTGTCTCAGGCC CTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACTTGTAAACTTGCC CAGTATTCTTAAGCCTCCAGCTTAAGGTGTGGTCATACTGGGTTAGGGTG GGCCTTTAATCCAATATGCGTGATGTCCTTGTTAAGAAGAGGAGGGACGC ATGAGAACTCAGCTGTGTCCTGAGAGCTGTGTCCTCGGCTGGTGTCCATG TGTCTCAGGCCCTGCCCCCAAGGGCCTCAGTGGAGCCTGCAGTCTGACTT GTGAACTTGCCCAGTATTCTTAAGCCTCCAGCTTAAGATGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947915	G G	GTGGTAGT others(415): Show GTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTTGGTAGTATTACTGTTGGTGGTGGTGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0009 a0003c0031t0009	a0003c0031t0009g0124 a0003c0031t0009g0124	1	123	0.0081	422	c.47- others(439): Show c.47-22783_47-22782insAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG GTGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(415): Show TAAAACTACTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTC AACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGG CAAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAA AATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAA AAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAA AAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGG TGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAG GGGGTAGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCT TGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02451.hp1 others(14): Show HG01109.hp1 HG02109.hp1 HG02451.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 NA18906.hp1 NA18972.hp2 NA19057.hp2 NA19060.hp1	a0003 a0004 a0005 a0003 a0004 a0005	a0003c0003 a0004c0004 a0005c0005 a0003c0003 a0004c0004 a0005c0005	a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 others(4): Show a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0006 a0005c0005t0001 a0005c0005t0005	a0003c0003t0001g0138 a0003c0003t0001g0159 a0003c0003t0001g0169 others(14): Show a0003c0003t0001g0138 a0003c0003t0001g0159 a0003c0003t0001g0169 a0003c0003t0003g0176 a0004c0004t0001g0183 a0004c0004t0002g0130 a0004c0004t0002g0186 a0004c0004t0002g0247 a0004c0004t0006g0008 a0004c0004t0006g0009 a0005c0005t0001g0095 a0005c0005t0001g0187 a0005c0005t0001g0188 a0005c0005t0005g0001 a0005c0005t0005g0002 a0005c0005t0005g0004 a0005c0005t0005g0007	17	86	0.1977	422	c.118 others(443): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCTACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(415): Show TAAAACTACTTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTC AACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGG CAAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAA AATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAA AAACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAA AAAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGG TGTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAG GGGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCT TGAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(77): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG02040.hp1 HG02055.hp2 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18947.hp2 NA18951.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA19002.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp1 NA19063.hp2 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0009c0011 a0012c0008	a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0014 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0009c0011t0001 a0012c0008t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 others(77): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0014g0254 a0002c0002t0001g0022 a0003c0003t0001g0123 a0003c0003t0001g0147 a0003c0003t0002g0061 a0003c0003t0002g0084 a0003c0003t0002g0122 a0003c0003t0002g0126 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0003t0002g0135 a0003c0003t0002g0143 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0009g0201 a0003c0003t0009g0204 a0009c0011t0001g0211 a0012c0008t0001g0197	80	149	0.5369	422	c.118 others(443): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
GRK5_chr10_119202571_119464745	119394232	G G	GTGTGTGG others(415): Show GTGTGTGGGTGTCTGTGTGGGTGTATCTGTGTGTGTGGGCACGTGTGTGT GTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGTGTGTGTGTGT GTGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGGTGT GTGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTGTGG GTATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGGGTA TGGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTGTGG GTGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTGGGT GTGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTGTGT GTGTGGCTATGTGGATGTGTGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	189	0.0053	422	c.262 others(439): Show c.262-2445_262-2444insGGTGTATCTGTGTGTGTGGGCACGTGTG TGTGTGGGTGTGTGTGAGTATCCGTGTATCTATGTGTGGGTGTGTGTGTG TGTGTGTGTGTGGGTGTCTGCGTGTGTGGGTGTATCTGTGTGTGTGTGGG TGTGTGTATCCATGTGTCTGTGTGTGGGTACGTGGGTGTGTGGGTGTGTG TGGGTATCTGTGTGTCTGTGTTTGTGTGTGTGTCTGTGGGTGTGTGTGGG GTATGGGTGTGTTTGTGTGGGTGGGTATGTGTCTGTGGGGGGGGTATGTG TGGGTGTGGGTGTCTGGGGGTGTGTATCTGTGTGTGGGCACGTGTGTGTG GGTGTGAGTATCCGTGTGTCTGTGTGTGGGTGTGTTTGTGAGTATCCGTG TGTGTGTGGCTATGTGGATGTGTGGATGTGTGGGTGTCTGTGTG	GRK5	ENSG00000198873.12	transcript	ENST00000392870.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010930	T T	TCTGGTGG others(415): Show TCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGA CTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTG GGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCTCCTACACC ACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTC CTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCG AGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	368	0.0027	422	c.134 others(439): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCTCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCCCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCA TTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCA CCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCT CCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTGGTGG AGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HBQ1_chr16_175459_186179	186119	G G	GGAGGAAC others(415): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGC GACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	422	c.50 others(433): Show c.5011_*5012insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4941		chr16	TogoVar
IFT88_chr13_20562157_20696444	20695443	A A	AAGACCAT others(415): Show AAGACCATCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGA GCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAA CTCAATCCTTGACTGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTA AGAGAGGAAAGAGGACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTA TGGTTCTTATATATACAATGCTTGGCATGTAATAAAATTACTGTGGCTGG GCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGG CAGATCACGAGGTCAGGAGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG03831.hp2 NA18612.hp2 others(3): Show HG00673.hp1 HG03831.hp2 NA18612.hp2 NA18975.hp2 NA19077.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0054 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0078	6	201	0.0299	422	c.42 others(433): Show c.4268_*4269insAGACCATCCTGACCAACATGGTGAAACCCCGTCT CTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGACCAGGACT TCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGA GACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATTAGTCCTG AATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTAAGAATAT CATTTGCAGTCTCTATGGTTCTTATATATACAATGCTTGGCATGTAATAA AATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTG GGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCG	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding		4000		chr13	TogoVar
KALRN_chr3_124028369_124731325	124109971	G G	GATATATA others(415): Show GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGCTTT GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGCTTT GATATATATATGACATATATGTCATGCTTTGATATATATATGACATATAT GTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATATATA TGACATATATGTCATGCTTTGAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0006 a0001c0073t0006	a0001c0073t0006g0096 a0001c0073t0006g0096	1	103	0.0097	422	c.73+ others(439): Show c.73+76166_73+76167insATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATATGACATA TATGTCATGCTTTGATATATATATGACATATATGTCATGCTTTGATATAT ATATGACATATATGTCATGCTTTGATATATATATGACATATATGTCATGC TTTGATATATATATGACATATATGTCATGCTTTGATATATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(415): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATAAATATATAA ATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGAT TTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATT TATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATA TATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATATA AATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	9	0.1111	422	c.-51 others(433): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATAAATATATAAATAAATATATAAATATATAAATATAAATATATATT TATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTATA TTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATAT TTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATATT TTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTA TATATTATTATGTTATATATTATATATTATTATATTATATATATTATAAT ATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(415): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATA TAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTGTTA TATATTATATATTATTATATTATATATATTATAATATGTATTATATTATA TATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0169 a0001c0001t0005g0169	1	9	0.1111	422	c.-51 others(433): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTGTTATATATTATATATTATTATATTATATATATTATAAT ATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(415): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	247	0.0040	422	c.283 others(441): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTATACACATATATATGAATATATA TGTGTACACATATATATGAATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGGG AGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAAG AGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGA GAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGAGGAGGGCAGGAGGAGGGGAGGGGGAGGAGGAGGAAGAGG AGGAGGAAGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0097 a0004c0005t0001g0097	1	5	0.2000	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCTTCCTCCTCCTCTTC CTCCTCCTCCCCCTCCCCTCCTCCTGCCCTCCTCCCCTCCTCCCCCTCCT CCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTC CTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCAT CTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCT CCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTC TTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGAC CCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGAGGGGA GAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGA GGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGG AGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	5	0.2000	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCT CCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTC CTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCAT CTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCTC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGAGG GAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAAGAGGAA GAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGAGAA AATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGGGAG GAGGGGGAGGAGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	5	0.2000	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCTCCTCCCCCTCCTCCCCC TCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCT CCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCT TCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	5	0.2000	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(415): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGG AGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	5	0.2000	422	c.583 others(437): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCCTCC CCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCT TCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACC CCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCT TCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KRTAP5-1_chr11_1579342_1590283	1581180	C C	CGTGGGGG others(415): Show CGTGGGGGTCCATATCTTGGGACCATGGGGGGTCTATATGTCAGGACCGT GGGGGTCTATATCTAAGGACCGTGGGGTTCTGTATCTCAGGACCGTGGGG GTCCATATCTAGGGACCGTGGGGGTCCATATCTAGGGACCGTGGGGGGTC CATATGTCAGGACCGTGGGGGTGTCTATATCTCGGGACCGTGGGGGTCCA TATCTAAGGACTGTGGGGGTCCATATCTTGGGACCATGGGGGGTCTATAT GTCAGGACCGTGGGGGTCTATATCTAAGGACCGTGGGGTTCTGTATCTCA GGACCGTGGGGGTCCATATCTAGGGACCGTGGGGGTCCATATCTAGGGAC CGTGGGGGGTCCATATGTCAGGACCGTGGGGGTGTCTATATCTCGGGACC GTGGGGGTCCATATCTAAGGACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	427	0.0023	422	c.32 others(433): Show c.3232_*3233insAGTCCTTAGATATGGACCCCCACGGTCCCGAGAT ATAGACACCCCCACGGTCCTGACATATGGACCCCCCACGGTCCCTAGATA TGGACCCCCACGGTCCCTAGATATGGACCCCCACGGTCCTGAGATACAGA ACCCCACGGTCCTTAGATATAGACCCCCACGGTCCTGACATATAGACCCC CCATGGTCCCAAGATATGGACCCCCACAGTCCTTAGATATGGACCCCCAC GGTCCCGAGATATAGACACCCCCACGGTCCTGACATATGGACCCCCCACG GTCCCTAGATATGGACCCCCACGGTCCCTAGATATGGACCCCCACGGTCC TGAGATACAGAACCCCACGGTCCTTAGATATAGACCCCCACGGTCCTGAC ATATAGACCCCCCATGGTCCCAAGATATGGACCCCCAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		3161		chr11	TogoVar
LHFPL3_chr7_104323603_104913561	104824288	A A	ATATAATA others(415): Show ATATAATATATATTATATATTATATATTATATAATATATTATATATATAA TATATTATATATTATATATTATATAATATATTATATATTATATATATTAT ATATTATATATTATATATTATATATATAATATATATTATATATTATATAT TATATATATTATATATATTATATATATTATATATAATATATATAATTGTA TATATAATATATAATATATAATATATATAATATATAATATATAATATATA ATATATAATATATATAATATATTATATATAATATATAATATATATAATAT ATTATATATAATATATAATATATAATATATATAATATATTATATATATAA TATATTATATAATATATTATATATATAATATATATTATATATTATATACA ATATATTATATATTATATACATT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	70	0.0143	422	c.683 others(441): Show c.683-81899_683-81898insTATAATATATATTATATATTATATAT TATATAATATATTATATATATAATATATTATATATTATATATTATATAAT ATATTATATATTATATATATTATATATTATATATTATATATTATATATAT AATATATATTATATATTATATATTATATATATTATATATATTATATATAT TATATATAATATATATAATTGTATATATAATATATAATATATAATATATA TAATATATAATATATAATATATAATATATAATATATATAATATATTATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATAATATATTATATATATAATATATTATATAATATATTATATATATA ATATATATTATATATTATATACAATATATTATATATTATATACATT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824294	T T	TATTATAT others(415): Show TATTATATATTATATATTATATAATATATTATATATATAATATATTATAT ATTATATATTATATAATATATTATATATTATATATATTATATATTATATA TTATATATTATATATATAATATATATTATATATTATATATTATATATATT ATATATATTATATATATTATATATAATATATATAATTGTATATATAATAT ATAATATATAATATATATAATATATAATATATAATATATAATATATAATA TATATAATATATTATATATAATATATAATATATAATATATATAATATATT ATATATAATATATAATATATAATATATATTATATATATAATATATTATAT AATATATTATATATATAATATATATTATATATTATATACAATATATTATA TATTATATACATTATATATTCTA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	82	0.0122	422	c.683 others(441): Show c.683-81893_683-81892insATTATATATTATATATTATATAATAT ATTATATATATAATATATTATATATTATATATTATATAATATATTATATA TTATATATATTATATATTATATATTATATATTATATATATAATATATATT ATATATTATATATTATATATATTATATATATTATATATATTATATATAAT ATATATAATTGTATATATAATATATAATATATAATATATATAATATATAA TATATAATATATAATATATAATATATATAATATATTATATATAATATATA ATATATAATATATATAATATATTATATATAATATATAATATATAATATAT ATTATATATATAATATATTATATAATATATTATATATATAATATATATTA TATATTATATACAATATATTATATATTATATACATTATATATTCTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	857692	T T	TCGGGACG others(415): Show TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGAGTGGTGTCA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	207	0.0048	422	c.153 others(441): Show c.1530-2987_1530-2986insTGACACCACTCACACCCGTCCCGAGA CACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTG CACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCA CACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(415): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGG ATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	83	0.0241	422	c.153 others(441): Show c.1530-3001_1530-3000insTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCCC GTGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATCCCGAG ACACCACTCACACCCATCCCGAGACACCACTCACACCCGTCCCGTGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953515	C C	CCACCCCA others(415): Show CCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACC AGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACAC GTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCACA CCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTAC ACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAG ACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT ACACGTCCACACAGACACCCACT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0018 a0018	a0018c0057 a0018c0057	a0018c0057t0001 a0018c0057t0001	a0018c0057t0001g0147 a0018c0057t0001g0147	1	273	0.0037	422	c.503 others(437): Show c.503+841_503+842insAGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953651	A A	ACACCCAC others(415): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCT GCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACAC AGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCC CGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTC CTACACGTCCACACAGACACCCACCCCGCACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCAC CCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0084 a0001c0012t0001g0084	1	179	0.0056	422	c.503 others(437): Show c.503+705_503+706insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGG TGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(415): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATAGATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	109	0.0092	422	c.343 others(439): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATGAATCTATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(415): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	109	0.0092	422	c.343 others(439): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATATGAATCTATATATGAAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01978.hp1 HG02735.hp1 others(4): Show HG00639.hp2 HG01978.hp1 HG02735.hp1 HG03209.hp2 HG03490.hp1 HG04199.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0125	7	247	0.0283	422	c.112 others(439): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02074.hp1 HG00609.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0149 a0001c0001t0002g0150	2	242	0.0083	422	c.112 others(439): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01978.hp2 HG02735.hp1 others(2): Show HG00639.hp2 HG01978.hp2 HG02735.hp1 HG04199.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0002 a0001c0005t0002g0035 a0001c0001t0002g0002 a0001c0005t0002g0035	5	227	0.0220	422	c.18 others(433): Show c.1863_*1864insTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGC TGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTAC TCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCA GCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACC CAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACC TCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGC TACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(415): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02074.hp2 HG02965.hp2 HG00609.hp2 HG02074.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0008	3	225	0.0133	422	c.18 others(433): Show c.1863_*1864insTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGT TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTA CTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCC AGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCAC CCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACAC CTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAG CTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(415): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAG TGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 HG03195.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0007 a0001c0001t0002g0008	2	116	0.0172	422	c.163 others(439): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MVP_chr16_29815462_29853021	29843546	A A	AAGGGAGG others(415): Show AAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGG AAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG TGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	115	0.0087	422	c.163 others(439): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAG TGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGG AGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAA GGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(415): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATA TATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATA TTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAATT TATATTAAATGTAAAATTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATATT TATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0031 a0001c0001t0007g0031	1	4	0.2500	422	c.189 others(443): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAAT ATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATAT ATTTATATTAAATTTATATTAAATGTAAAATTAATATATTTATATTAAAT TTATATTAAATGTAAAATTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATTTATATTAAATGTAAAATTAATATAT TTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAATTTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG00099.hp1 HG01981.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0119 a0008c0008t0118 a0001c0001t0119 a0008c0008t0118	a0001c0001t0119g0254 a0008c0008t0118g0257 a0001c0001t0119g0254 a0008c0008t0118g0257	2	54	0.0370	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02630.hp2 HG03834.hp2 others(1): Show HG02486.hp2 HG02630.hp2 HG03834.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0058 a0001c0001t0027 a0001c0001t0058	a0001c0001t0027g0016 a0001c0001t0027g0238 a0001c0001t0027g0281 others(1): Show a0001c0001t0027g0016 a0001c0001t0027g0238 a0001c0001t0027g0281 a0001c0001t0058g0123	4	56	0.0714	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp2 NA18959.hp2 HG01168.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0124 a0001c0001t0123 a0001c0001t0124	a0001c0001t0123g0350 a0001c0001t0124g0045 a0001c0001t0123g0350 a0001c0001t0124g0045	2	54	0.0370	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(415): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG03831.hp2 HG02735.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0126 a0001c0001t0061 a0001c0001t0126	a0001c0001t0061g0260 a0001c0001t0126g0246 a0001c0001t0061g0260 a0001c0001t0126g0246	2	54	0.0370	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCC GTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCCCATCCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678103	A A	ATCCATTC others(415): Show ATCCATTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCACCCATCC ACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCATCCATCCATCCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0110 a0001c0001t0110	a0001c0001t0110g0349 a0001c0001t0110g0349	1	361	0.0028	422	c.47 others(431): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC TTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATC CATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTA GTTTATCCATCCCCATCCATCCATCCATCCGTCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(415): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACT GCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTA TATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGT ATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	118	0.0085	422	c.-75 others(441): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATAC AGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGT ATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACATACAGTATACATACAT ACAGTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTA CACAGTATACATGCTGTACACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(415): Show CTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGT CTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTGCCTGTGT GTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	11	0.0909	422	c.26 others(433): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTA GCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NOC4L_chr12_132139457_132157468	132148904	C C	CGCCGCCT others(415): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	283	0.0035	422	c.901 others(435): Show c.901+17_901+18insACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(415): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCCGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	206	0.0049	422	c.140 others(439): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCC TGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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