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
NCAPG2_chr7_158626169_158709804	158648759	C C	CAACCACG others(473): Show CAACCACGGCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCAGGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA TAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGGCAAATGGACTATAACCACGCCAAATGGACTA CAATCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGGCAAATGGACTAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	274	0.0036	480	c.307 others(499): Show c.3075+2072_3075+2073insATAGTCCATTTGCCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTATAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGT GGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648787	C C	CCAAATGG others(473): Show CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGGCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGGCAAATGGACTACAACCACGCCAAATGGAC TACAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACG CCAAATGGACTATAACCACGCCAAATGGACTATAACCACGGCAAATGGAC TATAACCACGCCAAATGGACTACAATCACGCCAAATGGACTACAACCACG CCAAATGGACTACAACCACGCCAAATGGACTACAACCACGGCAAATGGAC TATAACCACGCCAAATGGACTACAACCACGG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	210	0.0048	480	c.307 others(499): Show c.3075+2044_3075+2045insCCGTGGTTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGATTGTAGTCCATTTGGCGTGG TTATAGTCCATTTGCCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCA TTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCA TTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGG TTGTAGTCCATTTGCCGTGGTTGTAGTCCATTTGCCGTGGTTGTAGTCCA TTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158648819	C C	CAACCACG others(473): Show CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCAGGCCAAATGGACTACAACCAGGCCAAATGGACTA CAACCACGCCAAATGGACTACAACCACGCCAAATGGACTACAACCACGCC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGCCAAATGGACTATAACCACGCCAAATGGACTATAACCACGCC AAATGGACTATAACCACGCCAAATGGACTATAACCACGCCAAATGGACTA TAACCACGGCAAATGGACTATAACCACGCCAAATGGACTACAATCACGGC AAATGGACTACAACCACGCCAAATGGACTACAACCACGCCAAATGGACTA CAACCACGGCAAATGGACTATAACCACGCCAAATGGACTACAACCACGGC AAATGGACTACAACCACGCCAAATGGACTAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0001	a0012c0020t0001g0346 a0012c0020t0001g0346	1	215	0.0047	480	c.307 others(499): Show c.3075+2012_3075+2013insATAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGGTTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGCCGTGATTGTAGTCCATTTGGCGTGGTTATAGTCCATTTGCCGT GGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTC CATTTGGCGTGGTTATAGTCCATTTGGCGTGGTTATAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTTGTAGTCCATTTGGCCTGGTTGTAGTCCATTTGGCCTGGTTGTAGTC CATTTGGCGTGGTTGTAGTCCATTTGGCGTGGTTGTAGTCCATTTGGCGT GGTT	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCGGT others(473): Show CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCAG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGC CCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGTGCC CGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGCCTT ACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	86	0.0116	480	c.-41 others(491): Show c.-4100_-4099insCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGC TCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCT CCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTC CACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCOR2_chr12_124319415_124572612	124438778	C C	CAGAGAGA others(473): Show CAGAGAGAGAGAGAGAGAGAGAGAGACGGAGACCCAGAGAGACAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACGGAGA CCCAGAGAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCA GAGACAGAGGAAGACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGA GAGAGAGACGGAGACCCAGAGACAGAGGGAGAGAGAGACCCAGAGACAGA GGGAGACAGAGACCCAGAGAGAGAGAGATGGAGACCCTGAGACAGAGGGA GACAGAGACCCAGAGAGAGAAACAGAGACCCAGAGACAGAGGGAGAGACA GAGACCCAGAGACAGAGACCCAGAGAGACAGGGAAACAGAGAACCAGAGA GAGAGAGAGAGACAGAGACCCAGAGAGACAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGACAGAGACCCAGAGAGACAGAG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0005 a0002c0016t0004g0005	1	40	0.0250	480	c.816 others(495): Show c.816-783_816-782insCTCTGTCTCTCTGGGTCTCTGTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTGTCTCTCTGGGTCTCTGTCTCTCTCTCT CTCTCTGGTTCTCTGTTTCCCTGTCTCTCTGGGTCTCTGTCTCTGGGTCT CTGTCTCTCCCTCTGTCTCTGGGTCTCTGTTTCTCTCTCTGGGTCTCTGT CTCCCTCTGTCTCAGGGTCTCCATCTCTCTCTCTCTGGGTCTCTGTCTCC CTCTGTCTCTGGGTCTCTCTCTCCCTCTGTCTCTGGGTCTCCGTCTCTCT CTCTCTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTCTTCCTCTGTCT CTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTCTCTGG GTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTGTCTCTCTGGGTCTCCGTCTCTCTCTCTCTCTCTCTCTCTCT	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79494230	T T	TGGCCGGG others(473): Show TGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACG GCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGG GGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGG AAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAA GGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGG CGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCG AGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	315	0.0032	480	c.278 others(499): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCC CATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC GACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGAA CCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTAC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(473): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGG GGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAG GCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp1 HG02129.hp1 others(9): Show HG00609.hp2 HG02080.hp1 HG02129.hp1 HG03239.hp2 HG03492.hp1 HG03654.hp2 HG04115.hp1 NA18939.hp1 NA18960.hp1 NA18999.hp1 NA19000.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(3): Show a0001c0001 a0001c0006 a0001c0008 a0001c0015 a0002c0012 a0002c0057	a0001c0001t0004 a0001c0006t0001 a0001c0006t0002 others(8): Show a0001c0001t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0008t0002 a0001c0008t0003 a0001c0008t0004 a0001c0015t0002 a0001c0015t0010 a0002c0012t0044 a0002c0057t0002	a0001c0001t0004g0091 a0001c0006t0001g0246 a0001c0006t0001g0256 others(9): Show a0001c0001t0004g0091 a0001c0006t0001g0246 a0001c0006t0001g0256 a0001c0006t0002g0075 a0001c0006t0003g0166 a0001c0008t0002g0061 a0001c0008t0003g0154 a0001c0008t0004g0084 a0001c0015t0002g0066 a0001c0015t0010g0271 a0002c0012t0044g0044 a0002c0057t0002g0068	12	213	0.0563	480	c.278 others(499): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAACGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCC CATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC GACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGAA CCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494277	A A	ACGGCCGG others(473): Show ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAATGGGCACACGCCCCCCATCAACCTGGTACCGCCGG GGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAG GCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA20905.hp2 HG04184.hp1 NA20905.hp2	a0001 a0001	a0001c0008 a0001c0015 a0001c0008 a0001c0015	a0001c0008t0002 a0001c0015t0021 a0001c0008t0002 a0001c0015t0021	a0001c0008t0002g0060 a0001c0015t0021g0240 a0001c0008t0002g0060 a0001c0015t0021g0240	2	203	0.0099	480	c.278 others(499): Show c.2782+7341_2782+7342insGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAATGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAACGGGCACACGCCCCC CATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC GACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATGAA CCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(473): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(8): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0013 a0001c0028 others(2): Show a0001c0005 a0001c0013 a0001c0028 a0001c0035 a0001c0048	a0001c0005t0005 a0001c0005t0016 a0001c0013t0005 others(6): Show a0001c0005t0005 a0001c0005t0016 a0001c0013t0005 a0001c0013t0007 a0001c0013t0025 a0001c0013t0056 a0001c0028t0018 a0001c0035t0054 a0001c0048t0005	a0001c0005t0005g0083 a0001c0005t0005g0320 a0001c0005t0016g0150 others(8): Show a0001c0005t0005g0083 a0001c0005t0005g0320 a0001c0005t0016g0150 a0001c0013t0005g0310 a0001c0013t0007g0112 a0001c0013t0007g0113 a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0028t0018g0082 a0001c0035t0054g0312 a0001c0048t0005g0283	11	156	0.0705	480	c.278 others(499): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494279	C C	CGCCGGGG others(473): Show CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGA AGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTGCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG01891.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0036 a0001c0005t0004 a0001c0005t0036	a0001c0005t0004g0058 a0001c0005t0036g0276 a0001c0005t0004g0058 a0001c0005t0036g0276	2	147	0.0136	480	c.278 others(499): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACGGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGG CACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79494327	G G	GGCCGGGG others(473): Show GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGG CCGGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTACCGCC GGGGGAAGGCGAGAACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGG GAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGA AGGCGAGAGGGGGCACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAG GCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGC GAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGA GCGGGCACACGCCCCCCATCGACCTGGTACC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18947.hp2 NA19081.hp2 HG02015.hp1 NA18947.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0010 a0002c0002t0017 a0002c0002t0009 a0002c0002t0010 a0002c0002t0017	a0002c0002t0009g0172 a0002c0002t0010g0278 a0002c0002t0017g0167 a0002c0002t0009g0172 a0002c0002t0010g0278 a0002c0002t0017g0167	3	303	0.0099	480	c.278 others(499): Show c.2782+7426_2782+7427insGAACCTGGTGCGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AACGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCTGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATCGACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532183	A A	ACCCCCCG others(473): Show ACCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	302	0.0033	480	c.46 others(491): Show c.4606_*4607insCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCG	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2861		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(473): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0001 a0002c0022t0001	a0002c0022t0001g0232 a0002c0022t0001g0232	1	235	0.0043	480	c.46 others(491): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(473): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0048 a0001c0021t0048	a0001c0021t0048g0116 a0001c0021t0048g0116	1	235	0.0043	480	c.46 others(491): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0250 a0002c0002t0001g0250	1	300	0.0033	480	c.46 others(491): Show c.4634_*4635insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532211	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0230 a0002c0011t0001g0230	1	300	0.0033	480	c.46 others(491): Show c.4634_*4635insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2889		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0315 a0001c0004t0002g0315	1	279	0.0036	480	c.46 others(491): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGTCCCCCGCCCCTCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0062 a0001c0024t0002g0062	1	279	0.0036	480	c.46 others(491): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0280 a0001c0001t0035g0280	1	264	0.0038	480	c.47 others(491): Show c.4714_*4715insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(473): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0208 a0001c0040t0001g0208	1	242	0.0041	480	c.47 others(491): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGTC others(473): Show CTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	242	0.0041	480	c.47 others(491): Show c.4754_*4755insTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(473): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATACCG TGTATATATACACAGTATGTATACCGTGTATATATACACAGTATGTATAC TGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0203 a0001c0001t0014g0203	1	118	0.0085	480	c.-75 others(499): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTATATAT ACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATATAT ACACAGTATACATACTGTGTATATATACACGGTATACATACTGTGTATAT ATACACGGTATACATACTGTGTATATATACACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACATACAGTATACATACATACAGTATACATACATACA GTATACATGCTGTATACAGTATACATGCTGTACACAGTATACATGCTGTA CACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(473): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTG TATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA19065.hp2 HG04199.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0148 a0001c0004t0004g0267 a0001c0004t0004g0148 a0001c0004t0004g0267	2	119	0.0168	480	c.-75 others(499): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAG TATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACT GCATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACATACAGTATACATACATACAGTATACATACATACA GTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTA CACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(473): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	350	0.0029	480	c.26 others(491): Show c.2689_*2690insGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGT GTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAG CCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCC GTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCC TGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGC TAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTG TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGC CCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGTGTGTG others(473): Show TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	350	0.0029	480	c.26 others(491): Show c.2689_*2690insGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGT GTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTC CCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAG CCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGG GCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGC GCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GCGTGATG others(473): Show GCGTGATGGTGGGGGTGGGCGTGATGATGGGGGTGATGATGGGGGTGGGG GTGGGGGTGGGGGTGATGGTGGGCGTGATGGTGGGGGTGATGGGGGTGGG CGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGG GGGTGGTGATGATGGGGGTGATGGTGGGGGTGATGGTGGGCGTGATGATG GGGGTGATGATGGGGGTGATGGTGGGGGTGGTGGGGGGGGTGGGCGTGAT GATGGGGGTGGTGATGATGGGGGTGATGGTGGGGGTGATGGTGGGCGTGA TGATGGGGGTGATGATGGGGGTGATGGTGGGGGTGGTGGGGGGGGTGGGC GTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGGCGTGATGGT GGGCGTGATGGTGGGGGTGGGCGTGATGATGGGGGTGATGATGGGGGTGG GGGTGGGGGTGGGGGTGATGGTGGGCGTGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0073 a0005c0010t0073	a0005c0010t0073g0046 a0005c0010t0073g0046	1	334	0.0030	480	c.21 others(489): Show c.216_*217insATCACGCCCACCATCACCCCCACCCCCACCCCCACC CCCATCATCACCCCCATCATCACGCCCACCCCCACCATCACGCCCACCAT CACGCCCACCATCACCCCCACCCCCACCCCCACCCCCATCATCACGCCCA CCCCCCCCACCACCCCCACCATCACCCCCATCATCACCCCCATCATCACG CCCACCATCACCCCCACCATCACCCCCATCATCACCACCCCCATCATCAC GCCCACCCCCCCCACCACCCCCACCATCACCCCCATCATCACCCCCATCA TCACGCCCACCATCACCCCCACCATCACCCCCATCATCACCACCCCCATC ATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATCACGCCCAC CCCCATCACCCCCACCATCACGCCCACCATCACCCCCACCCCCACCCCCA CCCCCATCATCACCCCCATCATCACGCCCACCCCCACCATCACG	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	216		chr20	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(473): Show GGGGAGGGGGGGAGGAGGGGAGGAGAGGGGAGGGGGAGGGAGGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAG GGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGG GGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAG GGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGG AAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGG AGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGG AAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0118 a0002c0002t0118	a0002c0002t0118g0076 a0002c0002t0118g0076	1	205	0.0049	480	c.154 others(497): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCCC TCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCTTCTCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTC TCCCTCCCCCACCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCTCCTCCCCTCCTCCCCCCCTC CC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(473): Show GGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGG TGGGGGAGGGAGAGGGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAG GGAGAAGGGAGGGGGAGGGGGGGGGGAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGA GGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGG GAGGGGAGGAGGAAGGGGGGAGGGGGAGGGGGGAGGGGAAAGGAGGAGGA AGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGA GGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGA AGAAGGGGAAGGGGGAGGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0124 a0002c0002t0124	a0002c0002t0124g0100 a0002c0002t0124g0100	1	205	0.0049	480	c.154 others(497): Show c.1545+353_1545+354insTTCCTCCCCTCCCCCTCCCCCTTCCCCT TCTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCC CCCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCC CCTTCCTCCTCCTTTCCCCTCCCCCCTCCCCCTCCCCCCTTCCTCCTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCCTCCCTTC TCCCTCCCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCC CCACCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCCTC CC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(473): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0136 a0001c0001t0068g0136	1	30	0.0333	480	c.433 others(497): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGA GG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949318	G G	GGCCTCCT others(473): Show GGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTC CCCCTGCCTCCCCTCCATCTCCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTC CCCGCGGCCTCTCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCCTGCCT CCTCTCCCCGCGGCCTCCTACTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0089 a0001c0006t0001g0089	1	127	0.0079	480	c.360 others(499): Show c.360+30000_360+30001insAGGGGGGAGAGTAGGAGGCCGCGGGG AGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGAGAGGCC GCGGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGGAGATGGAGGGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGG AGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(473): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACCACC ACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTCCAC CACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCACCA CCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCCACC ACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCTC CACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTACCAC CACCACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCAC CCACCTCCACCACCTACCACCACCACCACCACCTACCTCCACCACCACCC ACCTCCACCACCACCACCACCCACCTCCACC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	4	0.2500	480	c.732 others(495): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCCACCTACACCACC TACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCACCAC CCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCACCA CCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACC CCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCAC CACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCA CCTCCACCCCTACCACCACCACCACCACCTACCTCCACCACCACCCACCT CCACCACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCT ACCTCCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(473): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	480	c.-26 others(491): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(473): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18954.hp2 NA18946.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	183	0.0109	480	c.-26 others(491): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTA TCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTGTCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATA TGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACA TCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(473): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	321	0.0031	480	c.-26 others(491): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCID2_chr13_113172536_113213669	113176508	C C	CTCAGCAC others(473): Show CTCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCA GCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCT TGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCCAGCA CTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGT AAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTT GGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGA GGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGA GGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAA GAGAGCCGGGTGTGGTGGCACATGCCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	176	0.0057	480	c.16 others(491): Show c.1689_*1690insTGACAGGCATGTGCCACCACACCCGGCTCTCTTC CTCTTACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCC CAAAGTGCTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCT TACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAA GTGCTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACA AGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGC TGGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGG CCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGA	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1027		chr13	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(473): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01074.hp2 others(5): Show HG00642.hp1 HG00673.hp1 HG01074.hp2 HG01934.hp1 HG03669.hp1 NA18947.hp2 NA18963.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0006 a0001c0005t0002	a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0173 a0001c0001t0001g0231 a0001c0001t0002g0076 a0001c0003t0006g0054 a0001c0005t0002g0033	8	57	0.1404	480	c.129 others(497): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(473): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0141 a0001c0005t0001g0141	1	50	0.0200	480	c.129 others(497): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(473): Show TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTG TGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTG TGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGGTG CCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGGGGGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0204 a0002c0001t0001g0204	1	320	0.0031	480	c.-10 others(497): Show c.-10+1012_-10+1013insGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGT GGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTG GCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGG CTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGGGGGGGG GGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCT AGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCC TGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PIGQ_chr16_564968_589109	571108	T T	TGTGTGTG others(473): Show TGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTG TGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGCCTGG TGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCACCC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0207 a0002c0001t0001g0207	1	320	0.0031	480	c.-10 others(497): Show c.-10+1012_-10+1013insGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGC CCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCC GTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCC TGGCTCCCGTGGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCT GGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGG GGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGG CTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAG CCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCAC CC	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10			chr16	TogoVar
PLCB4_chr20_9064087_9485808	9188524	T T	TAGTGACA others(473): Show TAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATA GTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCTGTCATATAGT GACATTCTGGGTTGGTTAACTGTTCACTGTGGAGGGCTGTCATATAGTGA CATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGTCATATAGTGACA TTCTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATT CTGGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCT GGGTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGG GTTGGTTAATTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGT TGGTTAAGTGTTCATTGTGGAGGGCTGTCATACAGTGACATTCTGGGTTG GTTAAGTGTTCATTGTGGAGGGCTGTCATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02922.hp1 HG03195.hp1 HG00280.hp1 HG02922.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0007 a0001c0001t0001 a0002c0002t0001 a0002c0002t0007	a0001c0001t0001g0077 a0002c0002t0001g0101 a0002c0002t0007g0131 a0001c0001t0001g0077 a0002c0002t0001g0101 a0002c0002t0007g0131	3	118	0.0254	480	c.-78 others(499): Show c.-78-28819_-78-28818insTAGTGACATTCTGGGTTGGTTAAGTG TTCATTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTT CACTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAACTGTTCA TTGTGGAGGGCTGTCATATAGTGACATTCTGGGTTGGTTAATTGTTCATT GTGGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGT GGAGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGG AGGGCTGTCATACAGTGACATTCTGGGTTGGTTAATTGTTCATTGTGGAG GGCTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGG CTGTCATACAGTGACATTCTGGGTTGGTTAAGTGTTCATTGTGGAGGGCT GTCATACAGTGACATTCTGGGTTGGTTAACTGTTCATTGTGGAGGGCTGT CATA	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PODNL1_chr19_13926187_13943417	13936868	A A	AATCCCCC others(473): Show AATCCCCCAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCA ATCAACCCCACATGCCCCAACACCCCCACAATCGACCCCAAATGCGCCAT CACCCCCGCAATCAACCCCACATGCCCCAACACCCCCACAATCGACCCCA AATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCA ATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCACATGCCACAA CACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCAATCAACCCCA CATGCCCCAACACCCCCACAATCGACCCCAAATGCGCCATCACCCCCGCA ATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCAAATGCGCCAT CACCCCCGCAATCAACCCCACATGCCACAACACCCCCGCAATCGACCCCA AATGCGCCATCACCCCCGCAATCAACCCCAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	212	0.0047	480	c.226 others(495): Show c.226-409_226-408insGTGGGGTTGATTGCGGGGGTGATGGCGCAT TTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGT GATGGCGCATTTGGGGTCGATTGCGGGGGTGTTGTGGCATGTGGGGTTGA TTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGGGGCAT GTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGT GTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCATTTGGGGTCGA TTGCGGGGGTGTTGTGGCATGTGGGGTTGATTGCGGGGGTGATGGCGCAT TTGGGGTCGATTGTGGGGGTGTTGGGGCATGTGGGGTTGATTGCGGGGGT GATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGGGGCATGTGGGGTTGA TTGCGGGGGTGATGGCGCATTTGGGGTCGATTGTGGGGGTGTTGGGGGAT	PODNL1	ENSG00000132000.14	transcript	ENST00000588872.3	protein_coding	2/9			chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151603153	A A	ACGCTCCG others(473): Show ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCAC ACGGAGGCACCCGCTCCGTCCTCACCGCACACGGAGGGACACGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCGTCCTCACCGCACACGGAGGCACCCGCTCCGTCCTCACCGCAC ACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGCACCCGCTCCGTC CTCACCGCACACGGAGGGACACGCTCCGTCCTCACCGCACACGGAGGGAC ACGCTCCGTCCTCACCGCACACGGAGGGACC	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0032 a0001c0009t0032	a0001c0009t0032g0248 a0001c0009t0032g0248	1	250	0.0040	480	c.755 others(497): Show c.755-7700_755-7699insGGTCCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGT GAGGACGGAGCGGGTGCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTC CGTGTGCGGTGAGGACGGAGCGGGTGCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGT GAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGGGTGCCTC CGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAG CGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGT GAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAGCGTGTCCCTC CGTGTGCGGTGAGGACGGAGCGTGTCCCTCCGTGTGCGGTGAGGACGGAG CG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	5/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2124210	T T	TGTAGTTA others(473): Show TGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAG TTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTAGTTAGGATCATGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGT GGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	118	0.0085	480	c.335 others(499): Show c.335-11044_335-11043insGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTA GGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCAAGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGT GGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTC ACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAG CATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PROZ_chr13_113153648_113177386	113176508	C C	CTCAGCAC others(473): Show CTCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCA GCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCT TGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCCAGCA CTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGT AAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTT GGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGA GGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGA GGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAA GAGAGCCGGGTGTGGTGGCACATGCCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	162	0.0062	480	c.44 others(491): Show c.4403_*4404insTCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGC CCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCA CATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCG ACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATG CCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACA GAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCT GTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAAC TGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCA CCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4123		chr13	TogoVar
PTDSS2_chr11_445279_496399	459074	A A	AGGACCTG others(473): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03098.hp1 HG00642.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0113 a0001c0001t0002g0114	2	309	0.0065	480	c.183 others(497): Show c.183-1092_183-1091insACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(473): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0119 a0001c0001t0001g0120	2	180	0.0111	480	c.183 others(495): Show c.183-834_183-833insCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAP1GAP2_chr17_2791438_3042741	2830981	T T	TCCCTCCC others(473): Show TCCCTCCCTCCACTCTCCCCTCCCTTCCTTCCCTCCCTCCCCTCCCCTCC TCTCCCCTCCTCCCCTCCCCTCCTTCCCCTCCCCTCCTTCCCCTCCCCTT CCCTCCTTCCCCTCCCCCTCCCTTCCCTCCCCTCCTCTCCCCTCCCTCCC CTCCCCTTCCTTCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCCC TCCCCCCTCCCCTTCCCTCCCTTTCCCTCCCCTCCCTTCCCCTCCCCTCC CCTTCCCTCCCTTCCCCTCCTCTCCCCTCCCTCCCCCTCCCCCTTTTCTC CCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCCCTACCTTC CGTCCCCTCCCCTTCCCTACACTCCTTCCCTCCTCCCCTCCCCTCCCTTC CCTCCTCTTCCCTCTCTCCCTCCCGTCCCCTTCCCTCCCTTCCCCTCCCC ACTCCCTTCCCTTCCCCTCCCTTCTTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0153 a0001c0001t0099g0153	1	215	0.0047	480	c.80+ others(497): Show c.80+30431_80+30432insCCCTCCCTCCACTCTCCCCTCCCTTCCT TCCCTCCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTTCCCC TCCCCTCCTTCCCCTCCCCTTCCCTCCTTCCCCTCCCCCTCCCTTCCCTC CCCTCCTCTCCCCTCCCTCCCCTCCCCTTCCTTCCCCTCCCCTCCTCCCC CCTCCCTCCCCTCTCCTTCCCTCCCCCCTCCCCTTCCCTCCCTTTCCCTC CCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCTTCCCCTCCTCTCCCCTC CCTCCCCCTCCCCCTTTTCTCCCTTCCCCTCCCATCCCCTACACTTCCCT CCCCTCCCCTTCCCTACCTTCCGTCCCCTCCCCTTCCCTACACTCCTTCC CTCCTCCCCTCCCCTCCCTTCCCTCCTCTTCCCTCTCTCCCTCCCGTCCC CTTCCCTCCCTTCCCCTCCCCACTCCCTTCCCTTCCCCTCCCTTCTTCTC TC	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24			chr17	TogoVar
RASA3_chr13_113972783_114137623	114080938	T T	TAGTGCCC others(473): Show TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGTCCCA CGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp2 HG00639.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0002 a0001c0001t0001g0003	2	66	0.0303	480	c.56- others(495): Show c.56-7102_56-7101insCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCC GTGGGACACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACT CTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114081028	C C	CGGCAGAA others(473): Show CGGCAGAAGGCCGTCCACCTAGAACACCAAGAGTGTCCCACGGCAGAGGG CCGTCCACATAGAACACCAATAGTGCTGCGTGGCAGAGGGCCGTCCACAT AGAACACCAATAGTGCCGTGTGGCAGAGGGCCGTCCACCCAAAACACCAA GAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCAA TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGTCCCACGGCAGAGGG CCATCCACGTAGAACACCAATAGTGCTGCGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03471.hp1 NA18975.hp1 HG02723.hp2 HG03471.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0011t0001 a0001c0001t0001 a0001c0001t0002 a0001c0011t0001	a0001c0001t0001g0025 a0001c0001t0002g0032 a0001c0011t0001g0045 a0001c0001t0001g0025 a0001c0001t0002g0032 a0001c0011t0001g0045	3	60	0.0500	480	c.56- others(495): Show c.56-7192_56-7191insACGCAGCACTATTGGTGTTCTACGTGGATG GCCCTCTGCCGTGGGACACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT CTTGGTGTTTTGGGTGGACGGCCCTCTGCCACACGGCACTATTGGTGTTC TATGTGGACGGCCCTCTGCCACGCAGCACTATTGGTGTTCTATGTGGACG GCCCTCTGCCGTGGGACACTCTTGGTGTTCTAGGTGGACGGCCTTCTGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(473): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	333	0.0030	480	c.205 others(495): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar

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