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
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(348): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGG AAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAG GAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	282	0.0036	355	c.290 others(374): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCC TTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTC CCTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTC CCTCCCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INVS_chr9_100094243_100307175	100100863	T T	TATAAATT others(348): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATATAATATATATTATATATGCATATATAATATATATATTATATATG CATATATAATATATATATTATATATGCATATATAATATATATTATATATG CATATATAATATATATTATATATGCATATATAATATATATTATATATGCA TATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	182	0.0055	355	c.-25 others(372): Show c.-25+1450_-25+1451insAATTATATATACACATATATAATATATA TAATATATATACATATAATATATATATTATATATACATATATATTATATA TATAATATATATTATATATATAATATATATGTATATATATTATATATACA TATATAATATATATTATATATACATATAATATATATTATATATACATATA TAATATATATTATATATACATATATAATATATATTATATATGCATATATA ATATATATATTATATATGCATATATAATATATATATTATATATGCATATA TAATATATATTATATATGCATATATAATATATATTATATATGCATATATA ATATATATTATATATGCATATATAATA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100100863	T T	TATAAATT others(348): Show TATAAATTATATATACACATATATAATATATATAATATATATACATATAA TATATATATTATATATACATATATATTATATATATAATATATATTATATA TATAATATATATGTATATATATTATATATACATATATAATATATATTATA TATACATATAATATATATTATATATACATATATAATATATATTATATATA CATATATAATATATATTATATATGCATATATAATATATATATTATATATG TATATATAATATATATATTATATATGCATATATAATATATATTATATATG CATATATAATATATATTATATATGCATATATAATATATATTATATATGCA TATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG03209.hp1 others(1): Show HG02717.hp2 HG02922.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0010 others(1): Show a0001c0001t0005g0007 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0029g0008	4	182	0.0220	355	c.-25 others(372): Show c.-25+1450_-25+1451insAATTATATATACACATATATAATATATA TAATATATATACATATAATATATATATTATATATACATATATATTATATA TATAATATATATTATATATATAATATATATGTATATATATTATATATACA TATATAATATATATTATATATACATATAATATATATTATATATACATATA TAATATATATTATATATACATATATAATATATATTATATATGCATATATA ATATATATATTATATATGTATATATAATATATATATTATATATGCATATA TAATATATATTATATATGCATATATAATATATATTATATATGCATATATA ATATATATTATATATGCATATATAATA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IQGAP3_chr1_156520405_156577565	156570228	A A	AGACCCCT others(348): Show AGACCCCTACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCG GGTTCAACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0006 a0003c0009t0006	a0003c0009t0006g0073 a0003c0009t0006g0073	1	340	0.0029	355	c.38- others(368): Show c.38-766_38-765insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCT GAGGCAGGAGAATGGCGTTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGAGTAGGGGTC	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding	1/37			chr1	TogoVar
IQSEC3_chr12_61767_183455	72333	T T	TAAAAAAG others(348): Show TAAAAAAGAGGGAAGGGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0206 a0001c0003t0001g0206	1	282	0.0036	355	c.554 others(372): Show c.554+4913_554+4914insGTGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAGGGAAGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB5_chr3_124756948_124892365	124868247	A A	ACTAATAC others(348): Show ACTAATACATGTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0023 a0001c0016t0001g0023	1	352	0.0028	355	c.156 others(372): Show c.156+5198_156+5199insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGACACATGTATTAG	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	2/14			chr3	TogoVar
JAK1_chr1_64828229_64971549	64881269	T T	TATTAAAA others(348): Show TATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0081 a0001c0003t0001g0081	1	326	0.0031	355	c.205 others(372): Show c.205+2007_205+2008insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAAAATTTTAAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
JHY_chr11_122877759_122968862	122902121	T T	TTAAAAAA others(348): Show TTAAAAAATAAGTAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAATAAAATAAAATAAAAATAAAAATAAAAAAAAATAAAAAAT AAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00735.hp2 others(31): Show HG00423.hp2 HG00438.hp1 HG00735.hp2 HG01261.hp1 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02683.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 NA18947.hp2 NA18950.hp2 NA18959.hp2 NA18961.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp1 NA19054.hp1 NA19062.hp1 NA19066.hp2 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19091.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005 a0006c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0030 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0003c0005t0003 a0006c0016t0001	a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0173 others(30): Show a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0199 a0001c0001t0003g0227 a0001c0001t0004g0309 a0001c0001t0005g0019 a0001c0001t0030g0194 a0001c0001t0036g0196 a0001c0002t0001g0188 a0001c0002t0002g0191 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0203 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0003g0190 a0001c0003t0003g0206 a0001c0003t0005g0002 a0001c0003t0005g0185 a0001c0003t0005g0186 a0001c0003t0005g0198 a0001c0003t0005g0204 a0003c0005t0003g0207 a0006c0016t0001g0187	34	332	0.1024	355	c.345 others(372): Show c.345-1787_345-1786insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAATAAAATAAAATAAAAATAAAAATAAAAAAAAATAAA AAATAAAAAATAAAAAATAAGTAGGAG	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JHY_chr11_122877759_122968862	122902121	T T	TTAAAAAA others(348): Show TTAAAAAATAAGTAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAATAAAATAAAATAAAAATAAAAATAAAAATAAATAAAAAAT AAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0310 a0001c0015t0001g0310	1	332	0.0030	355	c.345 others(372): Show c.345-1787_345-1786insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAATAAAATAAAATAAAAATAAAAATAAAAATAAATAAA AAATAAAAAATAAAAAATAAGTAGGAG	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
KCNMB2_chr3_178531436_178849429	178575083	A A	ATAAAATC others(348): Show ATAAAATCTGTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGACTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	232	0.0043	355	c.-68 others(374): Show c.-68+38388_-68+38389insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTAAAATCTGTATCTTT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(348): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATTTATATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATTTATATATTTATATATATT TATATTTCTATTTATTTATATATATTTATATTTATTTATATTATATATTA ATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0049 a0001c0002t0023g0049	1	242	0.0041	355	c.174 others(374): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATTTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTAT ATTTATTTATATTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KMT2E_chr7_105009205_105120019	105044244	C C	CTAGTACC others(348): Show CTAGTACCATTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCCGGAC GGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	304	0.0033	355	c.71+ others(370): Show c.71+3235_71+3236insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGC CGGACGGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCATAGTACCATTTTGT	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
LEPR_chr1_65415668_65646559	65589495	A A	ACAAGGTC others(348): Show ACAAGGTCACAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0018 a0003c0004t0018	a0003c0004t0018g0149 a0003c0004t0018g0149	1	216	0.0046	355	c.495 others(372): Show c.495-3143_495-3142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCG CGCCCGGCCAAGGTCACAAAATTTTTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909259	T T	TTATATAA others(348): Show TTATATAATATATAATATATATATTATTATATATATAATAATATATATAT AATATATAATTATACATAATTATAATAATATATAATTATAATATATTAAT ATATATTATATATTAATATATAATATATAAATAATAATATATAATATATA ATTATATATTATATAATAATATATAATTATATATAATATATAATTATATA TTATATAATAATATATAATTATATATAATATATAATTATATATTATATAA TAACATATAATTATATATAATATATAAAAATATATAATATATAAATATAT AATATATAAATATATATAATATATAATTATATATAATATATAAATATATA TAATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0140 a0002c0002t0002g0140	1	316	0.0032	355	c.622 others(370): Show c.622-625_622-624insATATATAATATATATATTATTATATATATA ATAATATATATATAATATATAATTATACATAATTATAATAATATATAATT ATAATATATTAATATATATTATATATTAATATATAATATATAAATAATAA TATATAATATATAATTATATATTATATAATAATATATAATTATATATAAT ATATAATTATATATTATATAATAATATATAATTATATATAATATATAATT ATATATTATATAATAACATATAATTATATATAATATATAAAAATATATAA TATATAAATATATAATATATAAATATATATAATATATAATTATATATAAT ATATAAATATATATAATAGTATATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(348): Show TGCCACGTCCCCCTCGCCCCGTCCCCTACTGCCACGTCCCACCACCACGT CCACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCAC CCCGTCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCC TCGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGT CCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTG CCACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCAC ACTGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATA CCCACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	264	0.0038	355	c.180 others(374): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGCAGTGGGGACGGGG CGAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGAC GGGGTGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGTGG GGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGC AGTAGGGGACGGGGCGAGGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAP1B_chr5_72102475_72214565	72117121	T T	TGAAAAAT others(348): Show TGAAAAATCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0306 a0001c0002t0003g0306	1	342	0.0029	355	c.286 others(372): Show c.286+1337_286+1338insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGAAAAATCAGTTTTT	MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAU2_chr19_19315829_19363754	19343529	T T	TCCACATT others(348): Show TCCACATTTCTACATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGA GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0115 a0002c0010t0005g0115	1	344	0.0029	355	c.974 others(370): Show c.974-290_974-289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG AGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCACATTTCTACATTTCT	MAU2	ENSG00000129933.21	transcript	ENST00000262815.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
METRNL_chr17_83074609_83100122	83090371	A A	ACACACAC others(348): Show ACACACACCCCCGCCCTGCCCCAGGGTGGGAGCCACACACACACACCCCC CCCACACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACA CACCCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCG CCCCACACACACACCCCCCGCCCCACACACACACACCCCCGCCCCACACA CACACCCCCCGCCCCACACACACACCCCCCGCCCCACACACACACACCCC CGCCCCACACACACACCCCCCGCCCCACACACACACCCCCGCCCCACACA CACACACCCCCGCCCCACACACACACACCCCCGCCCCACACACACACCCC CCGCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	399	0.0025	355	c.557 others(372): Show c.557-2789_557-2788insCCCCGCCCTGCCCCAGGGTGGGAGCCAC ACACACACACCCCCCCCACACACACACCCCGCCCCACACACACACCCCCC GCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCCCACA CACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACACACACAC CCCCGCCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCA CACACACACACCCCCGCCCCACACACACACCCCCCGCCCCACACACACAC CCCCGCCCCACACACACACACCCCCGCCCCACACACACACACCCCCGCCC CACACACACACCCCCCGCCCCACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLC1_chr22_50054391_50090426	50057640	T T	TGGGGGTC others(348): Show TGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGAGGGTCAGGTTTG GGTTGAGCGGGAGGTCTGGGTTGGGGGTCAGGTCTGGGTTGGGGGTCAGG TCTGGGTTGGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGGTC AGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGGG TCAGGTCTGGGTTGGGGTCAGGTCTGGGTTGGGCGGGAGGTCTGGGTTGG GGGTCAGGTCTGGGTCGGGGTCAGGTCTGGGTTGGGGTCAGGTCTGGGTT GGGGGGTCAGGTCTGGGTTGAGCGGAAGGTCTGGGTTGGGGGTCAGGTCT GGGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0189 a0001c0001t0021g0189	1	212	0.0047	355	c.39 others(366): Show c.3942_*3943insCAACCCAGACCTGACCCCCAACCCAGACCTTCCG CTCAACCCAGACCTGACCCCCCAACCCAGACCTGACCCCAACCCAGACCT GACCCCGACCCAGACCTGACCCCCAACCCAGACCTCCCGCCCAACCCAGA CCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCAACCCA GACCTGACCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCAACC CAGACCTGACCCCCAACCCAGACCTGACCCCCAACCCAGACCTGACCCCC AACCCAGACCTCCCGCTCAACCCAAACCTGACCCTCAACCCAGACCTGAC CCCAACCCAGACCTGACCCCC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding		1750		chr22	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(348): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGAGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAG GGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGG GGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGG GTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0366 a0001c0002t0008g0366	1	382	0.0026	355	c.-10 others(366): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCC CTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(348): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAG GGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGG GGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGG GTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0219 a0001c0002t0001g0219	1	382	0.0026	355	c.-10 others(366): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAG TCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACTTC CCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCC CACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCC CCCCCAACACCCCCACTTCCCACTCCCTCCACCCCCAGGTCCCCCACTCC CTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MMP26_chr11_4699784_4997429	4729984	A A	ACAGCCCT others(348): Show ACAGCCCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	206	0.0049	355	c.-21 others(376): Show c.-217+24953_-217+24954insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCAGCCCTCATTTTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MPHOSPH8_chr13_19628659_19678441	19632613	T T	TTCCTGTG others(348): Show TTCCTGTGGGTCCTAGGAAGGCATACTACACTCTACTGATCTTTGTATTC CTGTTACTAATGCCTACTATAGTGATGGTACATAGGATGTATTTAATAAG CTCAACGGTATATCATTTACTATCTGATTACAGTTGAGTGAAAAAAAAAA AATCATTGAGCCAACTCAAAGATCTGGTGATCCTTTCCAAAAGGATTTGC CGGACCATAGATTGTTCTTCAGTTAAAGCTCAGAGATTTGACGGTGAGGC TCATCTTACAAATTAAGTCCACTGTTCAAAGAAACAAAAATAGAAAGCTT GATGCCATAAAGACTTCAGTTGCACATCCGAAATTCAAAGTGAGAAAAAT ATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	292	0.0034	355	c.-11 others(366): Show c.-1136_-1135insTCCTGTGGGTCCTAGGAAGGCATACTACACTCTA CTGATCTTTGTATTCCTGTTACTAATGCCTACTATAGTGATGGTACATAG GATGTATTTAATAAGCTCAACGGTATATCATTTACTATCTGATTACAGTT GAGTGAAAAAAAAAAAATCATTGAGCCAACTCAAAGATCTGGTGATCCTT TCCAAAAGGATTTGCCGGACCATAGATTGTTCTTCAGTTAAAGCTCAGAG ATTTGACGGTGAGGCTCATCTTACAAATTAAGTCCACTGTTCAAAGAAAC AAAAATAGAAAGCTTGATGCCATAAAGACTTCAGTTGCACATCCGAAATT CAAAGTGAGAAAAATATATTA	MPHOSPH8	ENSG00000196199.14	transcript	ENST00000361479.10	protein_coding		1045		chr13	TogoVar
MSH4_chr1_75791882_75918242	75906498	T T	TATATATA others(348): Show TATATATACAATATTATATATATTATATATAATATATATACAATATTATA TATATTATATATATATAATATATAATATGTATATATGTATATATATATGT ATAATATATATATTGTATATATATATTATACATATGTATATATATATTAT ACATATATATGTATAATATATATAATGTATATATATACATATTATATATT ATATATAATATATACATATATATTATATATAATATATACATATTATATAT TATATATATAATATATATACATATTATATTATATATAATATATATACATA TTACATATATTATATATAATATATATACATATATAATATATTATATATTA TATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02559.hp1 others(5): Show HG01891.hp2 HG02486.hp1 HG02559.hp1 HG02965.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 others(5): Show a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147	8	332	0.0241	355	c.262 others(374): Show c.2620-6191_2620-6190insCAATATTATATATATTATATATAATA TATATACAATATTATATATATTATATATATATAATATATAATATGTATAT ATGTATATATATATGTATAATATATATATTGTATATATATATTATACATA TGTATATATATATTATACATATATATGTATAATATATATAATGTATATAT ATACATATTATATATTATATATAATATATACATATATATTATATATAATA TATACATATTATATATTATATATATAATATATATACATATTATATTATAT ATAATATATATACATATTACATATATTATATATAATATATATACATATAT AATATATTATATATTATATATAATATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(348): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	355	c.-28 others(366): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(348): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18964.hp1 NA18949.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0011 a0001c0002t0002g0008 a0001c0002t0002g0011	2	350	0.0057	355	c.-28 others(366): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYO18B_chr22_25737188_26036045	25792353	T T	TAAGAAGT others(348): Show TAAGAAGTGGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0037 a0001c0006t0001g0037	1	228	0.0044	355	c.237 others(374): Show c.2377-5586_2377-5585insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAGTGGATTGG	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	11/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO3A_chr10_25929229_26217532	25956706	T T	TAAAGGAA others(348): Show TAAAGGAAAGCTGTAGTGTCTGCCCTTTCCAATCCTGAGAGTAGTTTTTC TTACACTTAAGCAATCCTCTCTAAGGCAGGAGTACTAGCAGCTCCTGCAC TAAGGTGACTGTCAGTCCCAGAATAATTCCATTTTTCTGATTTTCATTGA ACATTATTCAAGTGTGGTAAACATTATTTCTAATAAAATCTATTAGAATT TTTTAAATTGCTTTTATCAAATTCAGAGACAGTAGATACCTTTATTTGAC AGCTATAACAGCATATATTTATTGTGTTCATCATTGTTTTATTAGCATTT GAGTATTTTATTTCTTTTTGAATGTTTCATTGCTTTTCCTGAAGTGGCAT TGAAGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0266 a0003c0003t0016g0266	1	280	0.0036	355	c.303 others(372): Show c.303+1699_303+1700insAAGGAAAGCTGTAGTGTCTGCCCTTTCC AATCCTGAGAGTAGTTTTTCTTACACTTAAGCAATCCTCTCTAAGGCAGG AGTACTAGCAGCTCCTGCACTAAGGTGACTGTCAGTCCCAGAATAATTCC ATTTTTCTGATTTTCATTGAACATTATTCAAGTGTGGTAAACATTATTTC TAATAAAATCTATTAGAATTTTTTAAATTGCTTTTATCAAATTCAGAGAC AGTAGATACCTTTATTTGACAGCTATAACAGCATATATTTATTGTGTTCA TCATTGTTTTATTAGCATTTGAGTATTTTATTTCTTTTTGAATGTTTCAT TGCTTTTCCTGAAGTGGCATTGAAGCA	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	4/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
NALCN_chr13_101048776_101421508	101205909	T T	TAAAACAG others(348): Show TAAAACAGCACAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0143 a0001c0002t0002g0143	1	176	0.0057	355	c.162 others(376): Show c.1627-13856_1627-13855insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCTGTGCTGTTTT	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	13/43			chr13	TogoVar
NAV2_chr11_19707837_20126601	19941447	T T	TAATAAAT others(348): Show TAATAAATAGCATGAGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0003 a0003	a0003c0055 a0003c0055	a0003c0055t0008 a0003c0055t0008	a0003c0055t0008g0070 a0003c0055t0008g0070	1	166	0.0060	355	c.214 others(374): Show c.2146+1693_2146+1694insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGAT CGAGACCATCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAATAAATAGCATGAGGTTG	NAV2	ENSG00000166833.23	transcript	ENST00000349880.9	protein_coding	8/37		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158668071	T T	TCCCTTAC others(348): Show TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCC CTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTAC TGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0331 a0003c0006t0001g0331	1	378	0.0027	355	c.148 others(374): Show c.1480-3322_1480-3321insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NEU4_chr2_241804193_241822413	241807448	A A	ACCCTCCC others(348): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC TCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACTCT CCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCT CAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGA CCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGC CACCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	319	0.0031	355	c.-18 others(366): Show c.-1830_-1829insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCC CTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCT CCCTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCTCCCTCAGCCCA GGGACCTCTGCAGGCCACCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1744		chr2	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(348): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGGTC GGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGGGGGGGTGAGGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	356	0.0028	355	c.91+ others(368): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGTGAGGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(348): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	356	0.0028	355	c.91+ others(368): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(348): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCG GGGGGT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	356	0.0028	355	c.91+ others(368): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTTGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(348): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	356	0.0028	355	c.91+ others(368): Show c.91+403_91+404insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(348): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	356	0.0028	355	c.91+ others(368): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGT GAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(348): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	356	0.0028	355	c.91+ others(368): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535680	G G	GCACTCAG others(348): Show GCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGG AGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGG GAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTCGGGGG GAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAGG GGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGTGGAGAG GGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCATGGTGGGTGGGGG GGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGG GGGGAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0129 a0001c0009t0002g0129	1	324	0.0031	355	c.140 others(372): Show c.140+8343_140+8344insATCCCCCCTCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCATGCACCCAT TGCCCCAGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCC ATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACC CATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCAC CCATTGCCCCGGGAGGGATCCTGAGTG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(348): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCC CCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0112 a0001c0001t0050 a0001c0001t0112	a0001c0001t0050g0256 a0001c0001t0112g0255 a0001c0001t0050g0256 a0001c0001t0112g0255	2	326	0.0061	355	c.433 others(372): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAG GGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGG AAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGG GAGGGGGGGAGGGTGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(348): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCA CCCTCCCCCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCC CTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTT CCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0213 a0001c0001t0093g0213	1	326	0.0031	355	c.433 others(372): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGA GGGGAGGGGAAGGGGAGGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGG GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C2_chr10_103083038_103198272	103129505	G G	GCCCCGTC others(348): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	340	0.0029	355	c.175 others(372): Show c.175+9900_175+9901insTGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGG	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	4/18			chr10	TogoVar
NUP93_chr16_56725129_56855286	56739504	C C	CGGCTGGC others(348): Show CGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTG ACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01099.hp2 HG01261.hp1 others(3): Show HG00741.hp2 HG01099.hp2 HG01261.hp1 HG01346.hp1 HG01993.hp1 HG02293.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0030 a0001c0004t0005g0031 a0001c0004t0005g0032 others(3): Show a0001c0004t0005g0030 a0001c0004t0005g0031 a0001c0004t0005g0032 a0001c0004t0005g0033 a0001c0004t0005g0034 a0001c0004t0005g0035	6	378	0.0159	355	c.-14 others(372): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGGGGCTGACT CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(348): Show ACTGAATGTACATTATTATTATTATTATTATTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCC CGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	438	0.0023	355	c.-29 others(370): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAT AATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(348): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC TCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGG GGCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG04228.hp2 HG01069.hp1 HG01071.hp2 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0027 a0004c0006t0012 a0001c0001t0027 a0004c0006t0012	a0001c0001t0027g0018 a0004c0006t0012g0143 a0004c0006t0012g0144 a0001c0001t0027g0018 a0004c0006t0012g0143 a0004c0006t0012g0144	3	166	0.0181	355	c.633 others(372): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063865	G G	GTGGCCGG others(348): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCAGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC TCTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGGGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGG GGCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0014 a0027c0039t0014	a0027c0039t0014g0126 a0027c0039t0014g0126	1	166	0.0060	355	c.633 others(372): Show c.633-4053_633-4052insTGGCCAGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGT GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76063870	C C	CGGGCAGA others(348): Show CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTC CCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGG CTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0010 a0002c0046t0010	a0002c0046t0010g0125 a0002c0046t0010g0125	1	166	0.0060	355	c.633 others(372): Show c.633-4052_633-4051insGGCCAGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGTCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCTCTTCCCAGTAGGGGTG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCAACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCGGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDCD10_chr3_167678298_167739892	167684952	A A	AAAAATAT others(348): Show AAAAATATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAG GCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	284	0.0035	355	c.558 others(370): Show c.558-564_558-563insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAATATATTTT	PDCD10	ENSG00000114209.15	transcript	ENST00000392750.7	protein_coding	8/8			chr3	TogoVar
PDXK_chr21_43714129_43767299	43741268	G G	GGGGGGCT others(348): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGGCTCGCGGG GGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0345 a0001c0001t0005g0345	1	358	0.0028	355	c.143 others(370): Show c.143-394_143-393insCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGCCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTGGCAGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTG GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PEBP4_chr8_22708251_22932914	22895510	T T	TCTAGGTG others(348): Show TCTAGGTGGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	278	0.0036	355	c.258 others(374): Show c.258+24673_258+24674insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATCCACCTAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	3/6			chr8	TogoVar

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