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
ERC2_chr3_55503311_56473467	55851188	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTAGATAATGATTTTTTA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	74	0.0135	319	c.256 others(340): Show c.2564+37200_2564+37201insTAAAAAATCATTATCTAGGCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERMP1_chr9_5779572_5838117	5823732	T T	TTGGTTCA others(312): Show TTGGTTCAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0146 a0001c0010t0023g0146	1	378	0.0027	319	c.874 others(334): Show c.874+163_874+164insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTGAACCA	ERMP1	ENSG00000099219.15	transcript	ENST00000339450.10	protein_coding	4/14			chr9	TogoVar
EXD1_chr15_41177728_41235757	41182487	T T	TCAGGCCT others(312): Show TCAGGCCTGCCTTAATCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	318	0.0031	319	c.14 others(330): Show c.1443_*1444insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAGATTAAGGCAGGCCTG	EXD1	ENSG00000178997.12	transcript	ENST00000458580.7	protein_coding		240		chr15	TogoVar
EXD3_chr9_137301896_137428162	137329063	A A	ACTACACG others(312): Show ACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGG GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGCTACACGGG ACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGAGTACACGGGACTACACGGGACTACACGGG GTCACACGGGACTACACGGGACTACACGGGGCTACACGGGGTCACACGGG ACTACACGGGACTACACGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	82	0.0122	319	c.199 others(338): Show c.1999-4921_1999-4920insCCCGTGTAGTCCCGTGTAGTCCCGTG TGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTG TAGTCCCGTGTAGTCCCGTGTACTCCCGTGTAGTCCCGTGTGACCCCGTG TAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTG TAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTG TAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGACCCCGTG TAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329244	G G	GGGGTCAC others(312): Show GGGGTCACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGGTCACACGGGACTACACGGGGCTACAC GGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGAGTACAC GGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGCTACAC GGGACTACACGGGGTCACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0047 a0010c0006t0001g0047	1	82	0.0122	319	c.199 others(338): Show c.1999-5102_1999-5101insGTGTGACCCCGTGTAGTCCCGTGTAG CCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAC TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAG CCCCGTGTAGTCCCGTGTGACCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTGACCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC1L_chr4_55814790_55842489	55830617	C C	CAAAAAAA others(312): Show CAAAAAAAGCATTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACAAGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTC CGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	404	0.0025	319	c.122 others(334): Show c.122-702_122-701insTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAAC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGC AGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCATTTCC	EXOC1L	ENSG00000250821.3	transcript	ENST00000636125.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
EYA1_chr8_71192433_71367069	71293806	C C	CAAAAAAC others(312): Show CAAAAAACAACTTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGACTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	232	0.0043	319	c.826 others(336): Show c.826+5240_826+5241insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGTCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTGTAAGTTGTTTTTT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	9/17			chr8	TogoVar
FAF1_chr1_50432028_50965267	50564278	A A	AGGACTCT others(312): Show AGGACTCTCTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	190	0.0053	319	c.126 others(338): Show c.1268+2798_1268+2799insACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAGAGAGTCC	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	13/18			chr1	TogoVar
FAF1_chr1_50432028_50965267	50846769	T T	TAAAAGAA others(312): Show TAAAAGAATGTGAAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0180 a0001c0001t0031g0180	1	190	0.0053	319	c.114 others(338): Show c.114+11159_114+11160insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCCCTTCACATTCTTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAM167A_chr8_11416476_11471753	11456151	A A	ATGTGGGG others(312): Show ATGTGGGGGGTGGTTGCCTTGCTGTGTGAGTGTGAGTGAGTGTGGGGGGT GGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGTGGTTGCCCTGCTGGGT GTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTTGCTGTGAGTGTGAGTG TGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAGTGTGAGGTGGTTGCCC TGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGTTGCCCTGCTGGGTGCG TGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGTGTGAGTGTGGGGGGTG GTTGCCTTGCTGTGTGTGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG04115.hp1 NA21309.hp1 HG02698.hp1 HG04115.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0036 a0001c0001t0084 a0001c0001t0035 a0001c0001t0036 a0001c0001t0084	a0001c0001t0035g0271 a0001c0001t0036g0135 a0001c0001t0084g0272 a0001c0001t0035g0271 a0001c0001t0036g0135 a0001c0001t0084g0272	3	374	0.0080	319	c.-39 others(340): Show c.-398+10474_-398+10475insCTCACACACAGCAAGGCAACCACC CCCCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACACGCA CCCAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAGGGC AACCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCACACT CACACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACACCC AGCAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCACCC CCCACACTCACTCACACTCACACAGCAAGGCAACCACCCCCCACA	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FAM210A_chr18_13658347_13731558	13674677	C C	CTTTATTT others(312): Show CTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCCAACTTCATT TCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCA GTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCAGTTT CCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCAGTTTCCTG ACTATTAACATTCCTGAGCCCCGACTTCATTTCCAGTTTCCTGATTATTA ACATTCCTGAGCCCTGGCTTCTTTATTTCCAGTTTCCTGATTATTATAAT TCCTGAGCCCTGGCTTCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(42): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG02080.hp2 HG02683.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp1 HG03491.hp1 HG03704.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18946.hp2 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18971.hp1 NA18975.hp1 NA18980.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19081.hp1 NA19083.hp2 NA19088.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0021 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042	a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0067 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0143 a0001c0001t0004g0012 a0001c0001t0004g0039 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0004g0100 a0001c0001t0004g0106 a0001c0001t0012g0071 a0001c0001t0012g0085 a0001c0001t0012g0087 a0001c0001t0015g0077 a0001c0001t0015g0082 a0001c0001t0015g0107 a0001c0001t0021g0073 a0001c0001t0037g0061 a0001c0001t0038g0069 a0001c0001t0039g0101 a0001c0001t0041g0068 a0001c0001t0042g0105	45	326	0.1380	319	c.474 others(336): Show c.474-2705_474-2704insAAAGAAGCCAGGGCTCAGGAATTATAAT AATCAGGAAACTGGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATC AGGAAACTGGAAATGAAGTCGGGGCTCAGGAATGTTAATAGTCAGGAAAC TGGAAATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGA AATAAAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATA AAGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATGAAGT TGGGGCTCAGGAATGTTAATAATCAGGAAACTGGAAATAAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM219B_chr15_74894992_74911851	74910712	T T	TAAAAGGG others(312): Show TAAAAGGGATGGAGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAA AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	432	0.0023	319	c.-39 others(330): Show c.-3913_-3912insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCCTCCATCCCTTTT	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		3862		chr15	TogoVar
FAM220A_chr7_6324411_6353967	6351466	C C	CAAAGAGA others(312): Show CAAAGAGACACATGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01168.hp2 HG01169.hp2 HG00735.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0129 a0001c0002t0007g0130 a0001c0002t0007g0131 a0001c0002t0007g0129 a0001c0002t0007g0130 a0001c0002t0007g0131	3	420	0.0071	319	c.-29 others(330): Show c.-2976_-2975insTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCCCATGTGTCTCTTT	FAM220A	ENSG00000178397.13	transcript	ENST00000313324.9	protein_coding		2500		chr7	TogoVar
FARSB_chr2_222561899_222661092	222589528	T T	TAAAGAGC others(312): Show TAAAGAGCTTCTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02886.hp1 HG02622.hp2 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0297 a0002c0002t0006g0298 a0002c0002t0006g0297 a0002c0002t0006g0298	2	344	0.0058	319	c.161 others(340): Show c.1618+10399_1618+10400insTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGAAGCTCTTT	FARSB	ENSG00000116120.11	transcript	ENST00000281828.8	protein_coding	16/16			chr2	TogoVar
FBXL14_chr12_1560993_1599581	1574371	G G	GGCAGCGG others(312): Show GGCAGCGGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGT GTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAG GCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTG AGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGC TGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGA GGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGG GGTGGGGGAGGCTGGTGGCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	418	0.0024	319	c.119 others(338): Show c.1195-7562_1195-7561insTGCCACCAGCCTCCCCCACCCCAGCC TCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCAC CCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCC ACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCC AGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCAT CCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCTCTCACCCCAGCCTCCACCCACACCGCTGC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(312): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19003.hp1 NA19074.hp2 HG01884.hp2 NA19003.hp1 NA19074.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0008 a0003c0003t0002 a0002c0002t0002 a0002c0002t0008 a0003c0003t0002	a0002c0002t0002g0025 a0002c0002t0008g0093 a0003c0003t0002g0052 a0002c0002t0002g0025 a0002c0002t0008g0093 a0003c0003t0002g0052	3	334	0.0090	319	c.-10 others(338): Show c.-10-21228_-10-21227insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO8_chr4_174231658_174288667	174273323	T T	TAAAAAAA others(312): Show TAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAGTTAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG04115.hp1 HG00741.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0057 a0001c0001t0003g0058	2	376	0.0053	319	c.-9+ others(336): Show c.-9+10086_-9+10087insTTTTAACTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTA TTTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTT	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FGD2_chr6_37000655_37034069	37000764	C C	CATAACTC others(312): Show CATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	430	0.0023	319	c.-50 others(330): Show c.-5054_-5053insATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding		4890		chr6	TogoVar
FGF12_chr3_192134390_192732541	192658728	T T	TAAGATTT others(312): Show TAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCACTCTGTCGCCCAGGCTGGAGCGCAGTGACGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02615.hp1 HG03130.hp1 others(1): Show HG01074.hp1 HG02615.hp1 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0040	a0001c0001t0001g0037 a0001c0001t0005g0022 a0001c0001t0010g0014 others(1): Show a0001c0001t0001g0037 a0001c0001t0005g0022 a0001c0001t0010g0014 a0001c0001t0040g0018	4	90	0.0444	319	c.13+ others(336): Show c.13+68452_13+68453insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGTCACTGCGCTCCAGCCTGGGCGACAGAGTGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FMN1_chr15_32760544_33199714	32821096	T T	TCACAGAT others(312): Show TCACAGATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGCATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00741.hp1 others(11): Show HG00140.hp2 HG00408.hp2 HG00741.hp1 HG01070.hp1 HG02135.hp2 HG02922.hp1 HG03017.hp1 HG03654.hp2 HG03834.hp1 NA18956.hp1 NA18963.hp1 NA19064.hp2 NA19065.hp1 NA19091.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0007 a0009 a0011 a0023 a0029 a0036 a0044	a0001c0002 a0001c0015 a0002c0006 others(9): Show a0001c0002 a0001c0015 a0002c0006 a0003c0004 a0003c0007 a0007c0011 a0009c0085 a0011c0016 a0023c0022 a0029c0043 a0036c0084 a0044c0072	a0001c0002t0001 a0001c0015t0039 a0001c0015t0077 others(11): Show a0001c0002t0001 a0001c0015t0039 a0001c0015t0077 a0002c0006t0025 a0003c0004t0042 a0003c0007t0015 a0007c0011t0001 a0009c0085t0008 a0011c0016t0001 a0011c0016t0058 a0023c0022t0006 a0029c0043t0001 a0036c0084t0057 a0044c0072t0010	a0001c0002t0001g0054 a0001c0015t0039g0046 a0001c0015t0077g0012 others(11): Show a0001c0002t0001g0054 a0001c0015t0039g0046 a0001c0015t0077g0012 a0002c0006t0025g0124 a0003c0004t0042g0090 a0003c0007t0015g0176 a0007c0011t0001g0146 a0009c0085t0008g0072 a0011c0016t0001g0068 a0011c0016t0058g0167 a0023c0022t0006g0027 a0029c0043t0001g0168 a0036c0084t0057g0058 a0044c0072t0010g0048	14	196	0.0714	319	c.392 others(340): Show c.3929-16765_3929-16764insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCTGTG	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	17/20			chr15	TogoVar
FOXJ3_chr1_42171548_42340235	42302951	A A	ATCAATTT others(312): Show ATCAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCACGTCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0315 a0004c0004t0003g0315	1	332	0.0030	319	c.44+ others(334): Show c.44+8098_44+8099insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGTGCCACTGCAGTCCGCAGTCCGACGTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTGA	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	2/12			chr1	TogoVar
FOXO3B_chr17_18662629_18687314	18665031	T T	TAAAAAAA others(312): Show TAAAAAAAAAAAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0044 a0002c0002t0026g0044	1	456	0.0022	319	c.72 others(330): Show c.7277_*7278insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGGCTTTTTTTTTTTT	FOXO3B	ENSG00000240445.6	transcript	ENST00000395675.7	protein_coding		2597		chr17	TogoVar
FOXP1_chr3_70949708_71588728	71435463	A A	AGGGACGG others(312): Show AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGCACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0033 a0001c0001t0040g0033	1	96	0.0104	319	c.-16 others(340): Show c.-168+57962_-168+57963insCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTGCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCT CCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXQ1_chr6_1307098_1319758	1317226	C C	CCTCCCCC others(312): Show CCTCCCCCCGCCCATCCCTCCTCCCGCCCCCTCCAGCCTACCCTCCCCCA GCCCACCCCTCCTCCCCCCCCCCACCTACCCCTCCCCCACCCACCTCTCC TCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCCCCTCCCGCC CCCCTCCAGCCTACCCCTCCCCCGCCCACCCCCTCCTCCCGCCTCCCCCC CAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCCCGCCCCCTCCAGCCT ACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAGCCTACCCCTCCCCCC GCCCACCCCTCCTCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	319	c.33 others(330): Show c.3310_*3311insCTCCCCCCGCCCATCCCTCCTCCCGCCCCCTCCA GCCTACCCTCCCCCAGCCCACCCCTCCTCCCCCCCCCCACCTACCCCTCC CCCACCCACCTCTCCTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCGCC CACCCCCCTCCCGCCCCCCTCCAGCCTACCCCTCCCCCGCCCACCCCCTC CTCCCGCCTCCCCCCCAGCCTACCCCCTCCCCCCGCCCACCCACTCCTCC CGCCCCCTCCAGCCTACCCCTCCCCCCGCCCACTTCTCCCGCCCCCCCAG CCTACCCCTCCCCCCGCCCACCCCTCCTCCCGCCT	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2469		chr6	TogoVar
FREM1_chr9_14732152_14915428	14877435	T T	TTGTTGTT others(312): Show TTGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0004 a0001c0011t0004	a0001c0011t0004g0032 a0001c0011t0004g0032	1	346	0.0029	319	c.-26 others(338): Show c.-267-8192_-267-8191insCGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14877435	T T	TTGTTGTT others(312): Show TTGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03579.hp2 HG02647.hp2 HG03579.hp2	a0003 a0045 a0003 a0045	a0003c0056 a0045c0058 a0003c0056 a0045c0058	a0003c0056t0004 a0045c0058t0004 a0003c0056t0004 a0045c0058t0004	a0003c0056t0004g0214 a0045c0058t0004g0101 a0003c0056t0004g0214 a0045c0058t0004g0101	2	346	0.0058	319	c.-26 others(338): Show c.-267-8192_-267-8191insCGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
FREM1_chr9_14732152_14915428	14877435	T T	TTGTTGTT others(312): Show TTGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20129.hp1 HG03130.hp1 NA20129.hp1	a0025 a0025	a0025c0046 a0025c0046	a0025c0046t0006 a0025c0046t0006	a0025c0046t0006g0090 a0025c0046t0006g0237 a0025c0046t0006g0090 a0025c0046t0006g0237	2	346	0.0058	319	c.-26 others(338): Show c.-267-8192_-267-8191insCAGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
FREM2_chr13_38682077_38892131	38878389	T T	TAAAAACA others(312): Show TAAAAACAAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0230 a0002c0008t0001g0230	1	262	0.0038	319	c.885 others(334): Show c.8859+82_8859+83insCCGGGCGCGGTGGCTCACGCCTGTAGTCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGCTGG	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
FTCD_chr21_46131779_46160579	46145756	C C	CTTCCCCC others(312): Show CTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTGC GCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCAA CAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCTT CCCCCCACCCCGCGCTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCT CCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCTTCCCCCTCCCC GCCCTCCCCCCAACAGCGCCCTTCCCCCTCCCCGCCCTTCCCCCTCCCCG CCCTCCCCCCAACAGCGCCG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp1 others(8): Show HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01975.hp1 HG02630.hp1 HG02647.hp1 HG02970.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp2 NA20752.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0035 a0013c0030	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0035t0002 a0013c0030t0001	a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0132 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0103 a0001c0001t0001g0132 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0003t0003g0174 a0001c0035t0002g0191 a0013c0030t0001g0172	11	230	0.0478	319	c.109 others(334): Show c.1098+61_1098+62insCGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGG AAGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGT TGGGGGGAGGGCGCTGTTGGGGGGAGCGCGGGGTGGGGGGAAGGCGCTGT TGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGAGG GCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTG GGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAA	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
G3BP1_chr5_151766954_151817785	151777918	T T	TTATGTTC others(312): Show TTATGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCTCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19240.hp2 HG00735.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0063 a0001c0001t0030g0064 a0001c0001t0030g0063 a0001c0001t0030g0064	2	342	0.0059	319	c.-50 others(336): Show c.-50+5896_-50+5897insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCTCCCGGCCTATGTTCTTTTTTT	G3BP1	ENSG00000145907.16	transcript	ENST00000356245.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GAB2_chr11_78210293_78422820	78361449	G G	GAAAAAAA others(312): Show GAAAAAAATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0260 a0001c0001t0004g0260	1	288	0.0035	319	c.75+ others(336): Show c.75+56196_75+56197insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCCATTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GAREM1_chr18_32258522_32475882	32306876	T T	TAAAGAAT others(312): Show TAAAGAATTAAACACTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0011 a0001c0009t0003g0011	1	192	0.0052	319	c.393 others(336): Show c.393+3316_393+3317insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGAAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAGTGTTTAATTCTTT	GAREM1	ENSG00000141441.16	transcript	ENST00000269209.7	protein_coding	3/5			chr18	TogoVar
GAS6_chr13_113815549_113869076	113824385	C C	CGCGGTCT others(312): Show CGCGGTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAG CTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGCGCG GTCTGGGGTCTGAGCTGTCGGGAGCACCCGCGGTCTGGGGTCTGAGCTGT CGGGAGCACCCGCGGTCTGGGGTCTGAGCTGTCGGGAGCACGTGGGGTCT GGGGTCTGAGCTGTCGGGAGCACCTATGGTCTGGGTCTGAGCTGTCAGGA GCACGCGCAGTCTGGGGTCTGAGCTGTCGGGAGCACGCGGGGTCTGGGGT CTGAGCTGTCGGGAGCACCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	143	0.0070	319	c.147 others(336): Show c.1478-836_1478-835insAGGTGCTCCCGACAGCTCAGACCCCAGA CCCCGCGTGCTCCCGACAGCTCAGACCCCAGACTGCGCGTGCTCCTGACA GCTCAGACCCAGACCATAGGTGCTCCCGACAGCTCAGACCCCAGACCCCA CGTGCTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCA GACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGCGCGTG CTCCCGACAGCTCAGACCCCAGACCGCGGGTGCTCCCGACAGCTCAGACC CCAGACCGCGGGTGCTCCCGACAGCTCAGACCCCAGACCGC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGTCT others(312): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTAGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACG	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18747.hp2 NA19074.hp1 others(1): Show HG02056.hp2 NA18747.hp2 NA19074.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0001 a0001c0016t0001 a0001c0002t0001 a0001c0016t0001	a0001c0002t0001g0027 a0001c0002t0001g0132 a0001c0002t0001g0133 others(1): Show a0001c0002t0001g0027 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0016t0001g0027	4	384	0.0104	319	c.467 others(334): Show c.467-827_467-826insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGT GAGTAGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGTCT others(312): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03491.hp1 HG03492.hp1 HG02083.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0035 a0001c0002t0002 a0001c0002t0035	a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0035g0117 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0035g0117	3	384	0.0078	319	c.467 others(334): Show c.467-827_467-826insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGT GAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890098	C C	CGGGGTCT others(312): Show CGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGG GAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAG CGCGAGCGGGTGTCAGGACG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	384	0.0026	319	c.467 others(334): Show c.467-827_467-826insGTCTGGGAGTGGAGGGAGCGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGT GAGTGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGT CTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFOD1_chr6_13352830_13492600	13459345	C C	CAAAAATT others(312): Show CAAAAATTAACTCAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	230	0.0044	319	c.253 others(338): Show c.253+27292_253+27293insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGTCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCATCTTGAGTTAATTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13459345	C C	CAAAAATT others(312): Show CAAAAATTAACTCAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01070.hp1 others(17): Show HG00140.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01243.hp2 HG01516.hp1 HG01993.hp2 HG02083.hp2 HG02145.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG04204.hp2 NA18948.hp1 NA18965.hp2 NA18969.hp1 NA19088.hp2 NA19090.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0077 a0001c0001t0079 a0001c0001t0086 a0001c0001t0093 a0001c0001t0100 a0001c0001t0102 a0001c0001t0105 a0001c0001t0126	a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0139 others(17): Show a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0139 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0013g0089 a0001c0001t0014g0075 a0001c0001t0014g0084 a0001c0001t0023g0047 a0001c0001t0062g0077 a0001c0001t0065g0058 a0001c0001t0066g0046 a0001c0001t0077g0086 a0001c0001t0079g0045 a0001c0001t0086g0044 a0001c0001t0093g0087 a0001c0001t0100g0116 a0001c0001t0102g0090 a0001c0001t0105g0091 a0001c0001t0126g0180	20	230	0.0870	319	c.253 others(338): Show c.253+27292_253+27293insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCATCTTGAGTTAATTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13459345	C C	CAAAAATT others(312): Show CAAAAATTAACTCAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	230	0.0044	319	c.253 others(338): Show c.253+27292_253+27293insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCATCTTGAGTTAATTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(312): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02132.hp2 HG02809.hp1 HG01346.hp2 HG02132.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0039	3	450	0.0067	319	c.55 others(330): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GHITM_chr10_84134509_84158568	84157913	T T	TCAAGGAT others(312): Show TCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG02257.hp1 HG02451.hp2 others(5): Show HG01952.hp2 HG02257.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp1 HG02886.hp2 HG03209.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0015 a0001c0001t0003g0021 a0002c0002t0001g0011 a0001c0001t0001g0015 a0001c0001t0003g0021 a0002c0002t0001g0011	8	450	0.0178	319	c.55 others(330): Show c.5565_*5566insCAAGGATCACTTTCTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	GHITM	ENSG00000165678.22	transcript	ENST00000372134.6	protein_coding		4346		chr10	TogoVar
GIGYF2_chr2_232692331_232865605	232757351	A A	AGAGAATA others(312): Show AGAGAATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0012g0300 a0001c0002t0012g0301	2	376	0.0053	319	c.379 others(336): Show c.379+1035_379+1036insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGAATATTTTTTTTTTT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIPC2_chr1_78040966_78143444	78141369	T T	TTAGTTTT others(312): Show TTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	332	0.0030	319	c.56 others(330): Show c.5626_*5627insTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding		2926		chr1	TogoVar
GIPC2_chr1_78040966_78143444	78141369	T T	TTAGTTTT others(312): Show TTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(109): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02273.hp1 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19058.hp2 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0002 a0004c0015 others(2): Show a0001c0001 a0002c0002 a0004c0015 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0016 a0002c0002t0001 a0002c0002t0011 a0002c0002t0017 a0002c0002t0030 a0002c0002t0031 a0004c0015t0001 a0006c0010t0001 a0007c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0067 a0001c0001t0001g0072 others(108): Show a0001c0001t0001g0004 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0154 a0001c0001t0001g0195 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0016g0312 a0001c0001t0016g0313 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0085 a0002c0002t0001g0103 a0002c0002t0001g0127 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0204 a0002c0002t0001g0255 a0002c0002t0001g0285 a0002c0002t0001g0302 a0002c0002t0011g0140 a0002c0002t0011g0260 a0002c0002t0011g0265 a0002c0002t0017g0024 a0002c0002t0017g0156 a0002c0002t0030g0020 a0002c0002t0031g0183 a0004c0015t0001g0036 a0006c0010t0001g0301 a0007c0009t0001g0177	112	332	0.3374	319	c.56 others(330): Show c.5626_*5627insTAGTTTTAATTCTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	GIPC2	ENSG00000137960.6	transcript	ENST00000370759.4	protein_coding		2926		chr1	TogoVar
GIPR_chr19_45663221_45688722	45672002	A A	AGACACTA others(312): Show AGACACTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCA ACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTT TAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACTGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01261.hp2 others(59): Show HG00609.hp1 HG00673.hp1 HG01261.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp1 HG02572.hp2 HG02683.hp2 HG02818.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG03942.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18964.hp2 NA18970.hp2 NA18978.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18993.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0004 others(2): Show a0001c0001 a0002c0002 a0003c0004 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0002c0002t0004 a0002c0002t0011 a0003c0004t0002 a0004c0005t0002 a0005c0009t0002	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 others(36): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0006g0019 a0001c0001t0006g0104 a0001c0001t0006g0137 a0001c0001t0013g0001 a0001c0001t0013g0020 a0001c0001t0015g0067 a0001c0001t0019g0001 a0002c0002t0004g0031 a0002c0002t0004g0093 a0002c0002t0004g0096 a0002c0002t0011g0092 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0084 a0003c0004t0002g0086 a0003c0004t0002g0088 a0004c0005t0002g0019 a0004c0005t0002g0083 a0005c0009t0002g0001	62	416	0.1490	319	c.280 others(334): Show c.280+616_280+617insATTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATC TCTGCTCACTGCAACCTCCGCCTCCCGGGTTCACGGCATTCTCCCGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCTCCCGGCTAA TTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCGTGCTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGACACT	GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GJB1_chrX_71218224_71230516	71220886	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT GGCCCAGGTGGAAGTGCAGTGGCGCAATCTCGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTACAAGCGTGAGCCACCG CGCCCGGCCTTCTTTCTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	328	0.0031	319	c.-24 others(330): Show c.-2466_-2465insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTGGCCCAGGTGGAAGTGCAGTGGCGCAATCTCGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCATCACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCAAAGTGCTGGGATTAC AAGCGTGAGCCACCGCGCCCGGCCTTCTTTCTTTG	GJB1	ENSG00000169562.13	transcript	ENST00000361726.7	protein_coding		2337		chrX	TogoVar
GMDS_chr6_1618806_2250605	2179911	T T	TAGAAATA others(312): Show TAGAAATAGAAATGAAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18948.hp1 HG01069.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0141 a0001c0002t0001g0067 a0001c0002t0001g0141	2	166	0.0121	319	c.103 others(338): Show c.103-55181_103-55180insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGTTTCATTTCTATTTCT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	1/10			chr6	TogoVar
GNAO1_chr16_56186489_56362444	56343326	T T	TAAAAATA others(312): Show TAAAAATAATAATAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0244 a0001c0001t0017g0244	1	298	0.0034	319	c.723 others(336): Show c.723+6482_723+6483insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAATA	GNAO1	ENSG00000087258.16	transcript	ENST00000262493.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
GOLGA3_chr12_132763914_132833869	132776223	A A	ACCTCATA others(312): Show ACCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTT CCTGCCCTGCTGCTCCCGCCTGTGTCCAGCGCCTCATACACAGGTACCTG CAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTCCCGCCT GTGTCCAGCACCTCATACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTC CAGCTCCTTCCTGCCCTGCTGCTCCCGCCTGTGTCCAGCACCTCATACAC AGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTGCCCTGCT GCTCCCGCCTGTACCCAGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02559.hp2 others(10): Show HG02055.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02965.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0005c0006 a0012c0019 a0001c0001 a0005c0006 a0012c0019	a0001c0001t0030 a0005c0006t0014 a0005c0006t0018 others(7): Show a0001c0001t0030 a0005c0006t0014 a0005c0006t0018 a0005c0006t0043 a0005c0006t0044 a0005c0006t0062 a0005c0006t0063 a0005c0006t0064 a0005c0006t0081 a0012c0019t0038	a0001c0001t0030g0303 a0005c0006t0014g0018 a0005c0006t0014g0019 others(10): Show a0001c0001t0030g0303 a0005c0006t0014g0018 a0005c0006t0014g0019 a0005c0006t0014g0020 a0005c0006t0018g0023 a0005c0006t0018g0102 a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0062g0016 a0005c0006t0063g0013 a0005c0006t0064g0022 a0005c0006t0081g0308 a0012c0019t0038g0024	13	308	0.0422	319	c.397 others(336): Show c.3978+410_3978+411insCGCTGGGTACAGGCGGGAGCAGCAGGGC AGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGA GGTGCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCTGGAGGGGCT ACAGCAGCTGCTGCAGGTACCTGTGTATGAGGTGCTGGACACAGGCGGGA GCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCAGGTACC TGTGTATGAGGCGCTGGACACAGGCGGGAGCAGCAGGGCAGGAAGGAGCT GGAGGGGCTACAGCAGCTGCTGCAGGTACCTGTGTATGAGG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
GPC6_chr13_93221807_94413020	93468468	T T	TAAAGAAG others(312): Show TAAAGAAGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	76	0.0132	319	c.161 others(338): Show c.161-76786_161-76785insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGCA	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar

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