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
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(353): Show TCTACCACCACCATCACCACCACCACCACCATCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCACCACCACCACTATCACCACCT CTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCAC CTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCA TCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACC ACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACCACCTC TACCACCATCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	134	0.0075	360	c.520 others(381): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(353): Show TCTACCACCACCATCACCACCACCACCACCATCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCACCACCACCACTATCACCACCT CTACCACCACCATCATCACCACCACCACCATCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCAC CTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCA TCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACC ACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACCACCTC TACCACCATCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0062 a0002c0002t0062	a0002c0002t0062g0014 a0002c0002t0062g0014	1	134	0.0075	360	c.520 others(381): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(353): Show TCTACCACCACCATCACCACCACCACCACCATCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCACCACCACCACTATCACCACCT CTACTACCACCATCACCACCACCACCACCATCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCAC CTCTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCA TCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCACC ACCACCTCTACCACCACCATCACTACTACCACCACCACCATCACCACCTC TACCACCATCG	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18974.hp2 HG03239.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0026 a0002c0002t0013 a0002c0002t0026	a0002c0002t0013g0099 a0002c0002t0026g0100 a0002c0002t0013g0099 a0002c0002t0026g0100	2	134	0.0149	360	c.520 others(381): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTGATGGTGGTAGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(353): Show TCTACCACCACCATCACTACTACCACCACCACCACCTCTACCACCATCGC TACCATCACCACCACCACCACTATCACCGCCACCATCGCTACCATCACCA CCACCACCACTATCACCGCCACCACCACCAATACCACTACCACCACCATC ACTACCACCACCACCACCATCACCACCTCTACCATCGCTACCATCACCAC CACCACCACTACCATCATCACCACTACCACCATCACCACCTCTACCACCA CCATCACCACCACCACTATCACCACCTCCACCACCACCATCACCACCACC ACCACCACCACCTCTACCACCACCATCACTACTACCACCACCACCACCTC TACCACCATCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG01168.hp2 others(3): Show HG00280.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG02004.hp1	a0001 a0026 a0001 a0026	a0001c0004 a0026c0033 a0001c0004 a0026c0033	a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 others(3): Show a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0082 a0001c0004t0085 a0026c0033t0011	a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0113 others(3): Show a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0113 a0001c0004t0082g0129 a0001c0004t0085g0128 a0026c0033t0011g0095	6	134	0.0448	360	c.520 others(381): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGT GGTGATGGTGGTAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAG CGATGGTAGAGGTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTA GTGGTATTGGTGGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGC GATGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAG AGGTGGTGGTGGTGGTAGTAGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(353): Show TATATTTTATTTTATTTTATTTTTGTTATTTTATTTTATTTACTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0142 a0003c0003t0002g0142	1	394	0.0025	360	c.41- others(375): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAGTAAATAAAATA AAATAACAAAAATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399448	T T	TCATCACC others(353): Show TCATCACCACCATCACCGCCACCATCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACTACCATCATCACCACCATCACCACCAC CACCACCACCACCACCATCACCATCACCACCACCACCACCATCACCATCA CCACCACCACCACCATCACCATCATCACCACCATCACCGCCACCATCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCACTACCATCAT CACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCACCA CCACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACC ACCACCACCAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	314	0.0032	360	c.-25 others(377): Show c.-25+2530_-25+2531insTCACCACCATCACCGCCACCATCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACTACCATCA TCACCACCATCACCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCAC CATCACCGCCACCATCACCATCACCACCACCATCACCACCACCACCATCA CCACCACCACTACCATCATCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCATCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCATCATCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPS4_chr22_26445882_26488783	26481135	G G	GAAAGAAA others(353): Show GAAAGAAAACTTGGGTGTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	404	0.0025	360	c.41+ others(373): Show c.41+586_41+587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCACACACCCAAGTTTTCTTT	HPS4	ENSG00000100099.22	transcript	ENST00000398145.7	protein_coding	2/13			chr22	TogoVar
IGF2R_chr6_159964082_160116504	159980219	G G	GAAAGAAA others(353): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAG GAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGA AAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAA GAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0254 a0003c0007t0003g0254	1	310	0.0032	360	c.149 others(379): Show c.149+10844_149+10845insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAG AAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAA GGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGG AAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGAAAAGAAAGAAAGAAAGAAAG	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(353): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01346.hp1 HG01496.hp1 others(18): Show HG01168.hp2 HG01346.hp1 HG01496.hp1 HG02074.hp2 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp1 NA18942.hp1 NA18959.hp1 NA18980.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19060.hp2 NA19065.hp1 NA19072.hp1 NA19088.hp2 NA19090.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0003t0002 a0002c0002t0003 a0005c0007t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0103 others(13): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0315 a0001c0001t0013g0044 a0001c0001t0014g0166 a0001c0001t0014g0168 a0001c0001t0014g0169 a0001c0001t0014g0171 a0001c0003t0002g0165 a0002c0002t0003g0281 a0005c0007t0001g0170	21	440	0.0477	360	c.103 others(377): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
IL32_chr16_3060640_3074530	3066910	C C	CGGCCCAC others(353): Show CGGCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGC TGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGA GGGGTCACCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	458	0.0022	360	c.16- others(373): Show c.16-458_16-457insTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTG GCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCT TGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGG GGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACCTAG GCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAG GCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCT TGTGAGGAGGGGTCACCTAGGCCCACGC	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
IL32_chr16_3060640_3074530	3066960	A A	AGGCCCTG others(353): Show AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGC AGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCT CTTGTGAGGAGGGGTCACCTAGGCCCACGCTGGCCCTGCTCTTGTGAGGA GGGGTCACCTAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCT AGGCCCATGCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	458	0.0022	360	c.16- others(373): Show c.16-381_16-380insTGCTGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCATGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGG AGGGGTCACCTAGGCCCACGCAGGCCCTGCTCTTGTGAGGAGGGGTCACC TAGGCCCACGCTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATG CTGGCCCTGCTCTTGTGAGGAGGGGTCACCTAGGCCCATGCTGGCCCTGC TCTTGTGAGGAGGGGTCACCTAGGCCCA	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
INSIG2_chr2_118083471_118115997	118093967	A A	AGAGTTCT others(353): Show AGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGAT GATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTG AACCTTGCTGAAAGCAACCAGATGATGATGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGA TGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTT GCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGATGATGAT GATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATG ATGATGATGAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	440	0.0023	360	c.-13 others(379): Show c.-138-2451_-138-2450insAGTTCTGTAGCTACTGAACCTTGCCA AAAGCAACCAGATGATGATGATGATGATGATGATGATGATGATGATGATG ATGGAGAGTTCTGTAGCTACTGAACCTTGCTGAAAGCAACCAGATGATGA TGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAAC CTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAGGAGGAGGAGGAG AGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGA TGATGATGATGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAA CCTTGCCAAAAGCAACCAGATGATGATGATGATG	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094013	T T	TGATGATG others(353): Show TGATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTA GCTACTGAACCTTGCTGAAAGCAACCAGATGATGATGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAAC CAGATGATGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACT GAACCTTGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGA TGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAA CCAGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCC AAAAGCAACCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03492.hp2 HG00735.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	2	440	0.0046	360	c.-13 others(379): Show c.-138-2319_-138-2318insGGAGGAGGAGGAGGAGGAGGAGGAGG AGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGAT GATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAA GCAACCAGATGATGATGATGATGATGATGATGATGATGATGATGATGAAG GAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGA TGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGAT GATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTA CTGAACCTTGCTGAAAGCAACCAGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
INSIG2_chr2_118083471_118115997	118094013	T T	TGATGATG others(353): Show TGATGATGATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTA GCTACTGAACCTTGCTGAAAGCAACCAGATGATGATGATGAGGAGGAGGA GGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAGATG ATGATGATGATGAGGAGGAGGAGGAGGAGAGTTCTGTAGCTACTGAACCT TGCCAAAAGCAACCAGATGATGATGATGATGATGATGATGATGATGATGA TGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAA CCAGATGATGATGATGATGAAGGAGAGTTCTGTAGCTACTGAACCTTGCC AAAAGCAACCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	440	0.0023	360	c.-13 others(379): Show c.-138-2316_-138-2315insGGAGGAGGAGGAGGAGGAGAGTTCTG TAGCTACTGAACCTTGCTAAAAGCAACCAGATGATGATGATGATGAGGAG GAGGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGA TGATGATGATGATGATGATGATGATGATGATGATGATGATGATGAAGGAG AGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGATGATGATGA TGAAGGAGAGTTCTGTAGCTACTGAACCTTGCCAAAAGCAACCAGATGAT GATGATGATGATGATGATGATGATGATGATGGAGAGTTCTGTAGCTACTG AACCTTGCTGAAAGCAACCAGATGATGATGATGA	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
JARID2_chr6_15241069_15527042	15283342	T T	TTTTTTTT others(353): Show TTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCTCAGGCTGGAG CACAATAGCGTGATCGCGGCTTACTGCAAGCTCCACCTCCTGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTAGCCAGGACGGTCTCGATCTGCCGACCTTGTGATCTGCCCACCTTG GCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCGTT CTGGTATTTATTGAATATGTCGCAAATATTGTCTCCTAGTCTGTCCTTTG TCCTTTAAGTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0042 a0001c0003t0042	a0001c0003t0042g0007 a0001c0003t0042g0007	1	284	0.0035	360	c.45+ others(377): Show c.45+36773_45+36774insGAGATGGAGTCTCACTCTGTGGCTCAGG CTGGAGCACAATAGCGTGATCGCGGCTTACTGCAAGCTCCACCTCCTGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACACGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCATGTTAGCCAGGACGGTCTCGATCTGCCGACCTTGTGATCTGCCC ACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCG GCCGTTCTGGTATTTATTGAATATGTCGCAAATATTGTCTCCTAGTCTGT CCTTTGTCCTTTAAGTATTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNG2_chr18_79792938_79905100	79808027	G G	GCTGACCA others(353): Show GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCTC TGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGTCCCAGA GTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA CGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACA CTCCACGTTACGGTCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGC GCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	312	0.0032	360	c.-11 others(381): Show c.-115+10032_-115+10033insTGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCC TCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGTTACGGT CCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCC ACGTTACGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTG ACCACACTCCACGTTACGGTCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCGCGCTGACCACACTCCACGTTACGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGACACACTGACCACACTCCACGTTA	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808805	T T	TCGCTGAC others(353): Show TCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGC TGCCGGGGACACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTACGGTCCCA GAGTCCTCGCCCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGT TATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCA CACTCCACGTTATGGGCCCAGAGTCCTCGCTCTGAGGAGCTGCCGGGGAC ACACTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGC TGCCGGGGCCG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	312	0.0032	360	c.-11 others(381): Show c.-115+10826_-115+10827insTCGCCCTGAGGAGCTGCCGGGGAC ACACTGACCACACTCCACGTTATGGGCCCAGAGTCCTCGCCCTGAGGAGC TGCCGGGGCCTCGCTGACCACACTCCACGTTACGGTCCCAGAGTCCTCGC CCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCA GAGTCCGCGCTCTGAGGAGCTGCCGGGGACACACTGACCACACTCCACGT TATGGGCCCAGAGTCCTCGCTCTGAGGAGCTGCCGGGGACACACTGACCA CACTCCACGTTACGGTCCCAGAGTCCTCGCCCTGAGGAGCTGCCGGGGCC GCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79808851	G G	GAGCTGCC others(353): Show GAGCTGCCGGGGCCTCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GTGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGG CCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCC ACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGACACGCTG ACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGG GGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAG GAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGAGTCC GCGCTCTGAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	312	0.0032	360	c.-11 others(381): Show c.-115+10848_-115+10849insCCTCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGTGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACA CTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTGCCGGGGCCGC GCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTCTGAGGAGCTG CCGGGGACACGCTGACCACACTCCACGTTATGGGCCCAGAGTCCGCGCTC TGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTATGGGCCCAGA GTCCGCGCTCTGAGGAGCTGCCGGGGCCGCGCTGACCACACTCCACGTTA TGGGCCCAGAGTCCGCGCTCTGAGAAGCTGCCGGGG	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(353): Show GATATACCATATCATATGGTATATCATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATGATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	334	0.0030	360	c.52+ others(377): Show c.52+12517_52+12518insGATATACCATATGATATGGTATATGATA TACCATATGATATGGTATATGATATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATCATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNMB2_chr3_178531436_178849429	178758241	G G	GATATATA others(353): Show GATATATATATATATATATCCAAGAGGATATATATATATATATATATCCA AGAGGATATATATATATATATATATCCAAGAGGATATATATATATATATA TCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATATA TATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATA TCTATATATATATATCCAAGAGGATATATATCTATATATATCCAAGAGGA TATATATATATATATATCCAAGAGGATATATATATATATATATCCAAGAG GATATATATATATATATATATCCAAGAGGATATATATATATATATATATC CAAGAGGATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG03225.hp1 HG01255.hp1 HG01884.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0003g0213 a0001c0001t0002g0094 a0001c0001t0002g0118 a0001c0001t0003g0213	3	232	0.0129	360	c.-67 others(379): Show c.-67-49088_-67-49087insATATCCAAGAGGATATATATATATAT ATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATAT ATATATATATCCAAGAGGATATATATATATATATATATCCAAGAGGATAT ATATATATATATATATCCAAGAGGATATATATATATATATATATCCAAGA GGATATATATCTATATATATATATCCAAGAGGATATATATCTATATATAT CCAAGAGGATATATATATATATATATCCAAGAGGATATATATATATATAT ATCCAAGAGGATATATATATATATATATATCCAAGAGGATATATATATAT ATATATATCCAAGAGGATATATATATATATATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(353): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATATATATACATAAATATATATTTATATATATTTATATA TATACATAAATATATATTTATATATAAATATATATTTATATACATAAATA TATATTTATATATAAATATATATTTATATACATAAATATATATTTATATA TATTTATATACATAAATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA TATTTATATAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02965.hp2 HG02257.hp1 HG02630.hp1 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0014 a0001c0005t0001g0015 a0001c0005t0001g0016	3	136	0.0221	360	c.639 others(377): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATTTATATATAAATATATATTTATGTATATAAAT ATATATTTATATATAAATATATATTTATGTATATATATAAATATATATAA ATATATATTTATGTATATATATAAATATATATAAATATATAAATATATAT TTATATATAAATATATACATAAATATATATAAAAATATATATTTATATAT AAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KSR2_chr12_117448012_117973990	117606357	C C	CTCCCCTC others(353): Show CTCCCCTCCTTCCTCCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCT TCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCTTCCTCC CTCCTCTCCTTCCTTCCTCCCTCCTCTCCTTCCTCCCTCCCTCCCCTCCT TCCTCCCTCCCTCCTCTCCTTCCTTCCTCCATCCCCTCCTTCCTTCCTCC CTCCTCTCCTTCCTTCCTCCCTCCCCTCCTTCCTCCCTCCCTCCCCTCCT TCCTCCCTCCCTCCTCTCCTTCCTTCCTCCCTCCTCTCCTTCCTTCCTCC ATCCCCTCCTTCCTTCCTCCCTCCCCTCCTTCCTCCCTCCCTCCTCTCCT TCCTTCCTCCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03139.hp2 HG02109.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0142 a0001c0002t0063 a0001c0001t0142 a0001c0002t0063	a0001c0001t0142g0190 a0001c0002t0063g0048 a0001c0001t0142g0190 a0001c0002t0063g0048	2	196	0.0102	360	c.117 others(381): Show c.1172-23999_1172-23998insTGGAGGAAGGAAGGAGAGGAGGGA GGGAGGAAGGAGGGGAGGGAGGAAGGAAGGAGGGGATGGAGGAAGGAAGG AGAGGAGGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGGAGGAAGGAGGGGAGGGAGGAAGGAAGGAGAGGAGGGAGGAAGGAAGG AGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGGAGGAAGGAGAGGAGGGAGGAAGGAAGGAGAGGAGGGAGGAAGGAAGG AGGGGATGGAGGAAGGAAGGAGAGGAGGGAGGGAGGAAGGAGGGGAGGGA GGGAGGAAGGAGGGGAGGGAGGGAGGAAGGAGGGGA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
LHPP_chr10_124456823_124619141	124507131	T T	TGGGGGGG others(353): Show TGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTCGGGG GGTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGTAGGG AGGATTTCAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0008 a0003c0003t0008g0008	1	260	0.0039	360	c.624 others(377): Show c.624+9003_624+9004insGGGGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGGGGGGTAGG GAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGACAG GATTTCAGGTGGGGGGTAGGGAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LINGO2_chr9_27932617_29218601	28189669	G G	GAGGAAGG others(353): Show GAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGAAGGAA GGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGGAGGAA GGAAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAA GGAAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0054 a0001c0004t0005g0054	1	62	0.0161	360	c.-36 others(381): Show c.-36+105538_-36+105539insTCCTCCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCT TCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTTCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTC CTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LMLN_chr3_197955217_198048720	198004145	C C	CCATCTAT others(353): Show CCATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAGTT TGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTAAG TTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATATATCATCTATACAGATACATATCATACGTAGTA AGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGTAG TAAGTTTGACATCTATCTATATATCATCTATACAGATACATATCATACGT AGTAAGTTTGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02572.hp1 HG03540.hp2 HG01891.hp2 HG02572.hp1 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0019 a0002c0002t0009g0041 a0002c0002t0009g0042 a0002c0002t0009g0019 a0002c0002t0009g0041 a0002c0002t0009g0042	3	258	0.0116	360	c.131 others(379): Show c.1319+1071_1319+1072insACATCTATCTATATATCATCTATACA GATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATATATCATCTATA CAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATCTA TACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCATC TATACAGATACATATCATACGTAGTAAGTTTGACATCTATCTATATATCA TCTATACAGATACATATCATACGTAGTAAGTTTG	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LOC128462377_chr16_89312046_89423292	89323504	C C	CAGGGCAG others(353): Show CAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGAGGGCAGGG GGGCAGAGCCCAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGCTGAGCC GAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCAGAGCCGAGGGCAGGG GGGCAGAGCCCAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGCTGAGCC GAGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGGCTGAGCCGAGGGCAGGG GGGCTGAGCCGAGGGCAGGGGGGCAGAGCCGAGGGCAGGGGGGCAGAGCC CAGGGCAGGGGGGCAGAGCCCAGGGCAGGGGGGCTGAGCCGAGGGCAGGG GGGCTGAGCCG	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0036 a0001c0001t0000g0036	1	366	0.0027	360	c.10- others(375): Show c.10-6430_10-6429insCGGCTCAGCCCCCCTGCCCTCGGCTCAGCC CCCCTGCCCTGGGCTCTGCCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCT CGGCTCTGCCCCCCTGCCCTCGGCTCAGCCCCCCTGCCCTCGGCTCAGCC CCCCTGCCCTCGGCTCAGCCCCCCTGCCCTCGGCTCAGCCCCCCTGCCCT GGGCTCTGCCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCTCGGCTCTGCC CCCCTGCCCTCGGCTCAGCCCCCCTGCCCTCGGCTCAGCCCCCCTGCCCT GGGCTCTGCCCCCCTGCCCTGGGCTCTGCCCCCCTGCCCTCGGCTCAGCC CCCCTGCCCTCGGCTCAGCCCCCCTGCCCT	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRCH3_chr3_197786254_197893436	197876971	C C	CTCACCGC others(353): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGT GATTCTCTTTACCCAATTCACCGCACCCATGGCAGTGATTCTCTTTACCC AGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCT CTTTACCCAGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0018 a0009c0013t0018	a0009c0013t0018g0168 a0009c0013t0018g0168	1	292	0.0034	360	c.220 others(379): Show c.2208+1266_2208+1267insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGAC AGTGATTCTCTTTACCCAATTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877344	T T	TGGCAGTG others(353): Show TGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTC TTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAG TGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACC CAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACC CATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTC ACCGCACCCAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	292	0.0034	360	c.220 others(379): Show c.2208+1590_2208+1591insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAAC TCACCGCACCCACGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP8_chr1_53237364_53333070	53283550	T T	TACTTACT others(353): Show TACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACTTA CTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCCACT TACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCGGGCCA CTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCC GGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATAC CCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTAC ATACCCGGGCC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19076.hp2 NA19070.hp1 NA19076.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0044 a0002c0003t0003g0089 a0002c0003t0003g0044 a0002c0003t0003g0089	2	296	0.0068	360	c.368 others(377): Show c.368-2836_368-2835insGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT GGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAA GTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGT AAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(353): Show TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	296	0.0034	360	c.368 others(377): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAA GCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGT AAGTAAGCGGCCCGGGTATGTAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(353): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0117 a0002c0002t0004g0117	1	296	0.0034	360	c.368 others(377): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCC CGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(353): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTGCATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0072 a0002c0002t0004g0072	1	296	0.0034	360	c.368 others(377): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGTAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCC CGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53284196	T T	TACTTACC others(353): Show TACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGG GCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTACTGCAT ACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACTTACCTA CTGCATACCCGGGCCGCTTACTTACCTACTGCATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	296	0.0034	360	c.368 others(377): Show c.368-3482_368-3481insGGCCCGGGTATGTAGTAGGTAAGTAAGC GGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAA GTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGT AGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTA TGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCC CGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGTAAGTAA GCGGCCCGGGTATGCAGTAGGTAAGTAAGCGGCCCGGGTATGCAGTAGGT AAGTAAGCGGCCCGGGTATGCAGTAGGTAAGT	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(353): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01081.hp1 others(18): Show HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01516.hp1 HG01975.hp2 HG02027.hp1 HG02165.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18979.hp2 NA19010.hp1 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19065.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0056	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0001 others(3): Show a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0008g0001 a0001c0001t0012g0001 a0001c0001t0017g0001 a0001c0001t0056g0001	21	414	0.0507	360	c.-43 others(371): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	360	c.-43 others(371): Show c.-4353_-4352insGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0005 a0001c0001t0085g0005	1	414	0.0024	360	c.-43 others(371): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	414	0.0024	360	c.-43 others(371): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(353): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01981.hp1 HG02056.hp2 others(13): Show HG01943.hp1 HG01981.hp1 HG02056.hp2 NA18944.hp1 NA18960.hp1 NA18962.hp1 NA18967.hp2 NA18975.hp2 NA18985.hp2 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19011.hp2 NA19062.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0073	a0001c0001t0001g0002 a0001c0001t0005g0002 a0001c0001t0006g0002 others(2): Show a0001c0001t0001g0002 a0001c0001t0005g0002 a0001c0001t0006g0002 a0001c0001t0013g0002 a0001c0001t0073g0009	16	414	0.0387	360	c.-43 others(371): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513834	A A	GAGGGGTC others(353): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp1 others(9): Show HG00099.hp1 HG00280.hp2 HG00597.hp1 HG00735.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01934.hp1 NA18999.hp1 NA19065.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0004g0011 others(3): Show a0001c0001t0002g0001 a0001c0001t0004g0001 a0001c0001t0004g0011 a0001c0001t0004g0017 a0001c0001t0008g0001 a0001c0001t0008g0013	12	414	0.0290	360	c.-43 others(370): Show c.-4319delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4158		chr8	TogoVar
LUZP2_chr11_24492053_25087638	24774678	A A	ATATTCTA others(353): Show ATATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGT AGAATATATATAGAATATATTCTATATATATGTAGAATATATATAGAATA TATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGTA GAATATATATAGAATATATTCTATATATATGTAGAATATATATAGAATAT ATTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGTAG AATATATATAGAATATATTCTATATATATGTAGAATATATATAGAATATA TTCTATATATATGTAGAATATATATAGAATATATTCTATATATATGTAGA ATATATTCTAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	116	0.0086	360	c.396 others(379): Show c.396+11370_396+11371insTATTCTATATATATGTAGAATATATA TAGAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATAT ATATGTAGAATATATATAGAATATATTCTATATATATGTAGAATATATAT AGAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATATA TATGTAGAATATATATAGAATATATTCTATATATATGTAGAATATATATA GAATATATTCTATATATATGTAGAATATATATAGAATATATTCTATATAT ATGTAGAATATATATAGAATATATTCTATATATATGTAGAATATATATAG AATATATTCTATATATATGTAGAATATATTCTAT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11			chr11	TogoVar
MAEA_chr4_1284891_1345137	1316970	A A	ACGGCCCC others(353): Show ACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCCCCACACT CCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCC CCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAGAC TCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCA CCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCT GCAGGCCCACC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	388	0.0026	360	c.456 others(377): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTC ACCCCCAGGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACAC TCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCC AGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCTAGACTCACCCCCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1316970	A A	ACGGCCCC others(353): Show ACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCCCCACACT CCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTC CCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACAC TCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCT GCAGGCCCACC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	388	0.0026	360	c.456 others(377): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTC ACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGC AGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCTAGACTCACCCCCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1316970	A A	ACGGCCCC others(353): Show ACGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCTGGCCCCCACACT CCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGACTCACCCCCA GGCCCACCCCGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTC CCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACAC TCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACAC TCCAGACTCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCT GCAGGCCCACC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	388	0.0026	360	c.456 others(377): Show c.456+1406_456+1407insTGGCCCCCACACTCCAGACTCACCTGCA GGCCCACCCGGCCCCACACTCTAGACTCACCCCCAGGCCCACCCCGGCCC CCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTC ACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCA CCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCAGCCCCCACAC TCCAGACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCC AGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGC CCCACACTCTAGACTCACCCCCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1333817	A A	ACCCACCC others(353): Show ACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCCTAC CGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCCTGCA CCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCG TGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCCACCCCTGCACC CACCCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGT GCTCACCCCCATGCCCACCCCCATGCCCACCATGTGCCACCCCTGCACCC ACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCATGCCTACCGTGC TCACCCCCATG	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	388	0.0026	360	c.765 others(375): Show c.765+960_765+961insCATGCCCGTGTGCTCACCCCTGCACCCATC CCATGCCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGC TCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCC CATGCCTACCGTGCTCACCCCCATGCCCACCCCATGCCCACCATGTGCCC ACCCCTGCACCCACCCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCC ATGCCTACCGTGCTCACCCCCATGCCCACCCCCATGCCCACCATGTGCCA CCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCTGCACCCATCCCAT GCCTACCGTGCTCACCCCCATGCCCACCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894633	T T	TATATATA others(353): Show TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATA TATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATA TGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCA TGTGATGCATATATATATATGCATGTGATGCATATATATATGCATGTGAT GCATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCAT ATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0101 a0001c0001t0025g0101	1	102	0.0098	360	c.-38 others(379): Show c.-38-40465_-38-40464insGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATATGCATCAC ATGCATATATATATGCATCACATGCATATATATATATGCATCACATGCAT ATATATATATGCATCACATGCATATATATATATGCATCACATGCATATAT ATATGCATCACATGCATATATATATATGCATCACATGCATATATATATAT GCATCACATGCATATATATATATGCATCACATGCATATATATATATGCAT CACATGCATATATATATATGCATCACATGCATATATATATATGCATCACA TGCATATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF6_chr5_10348695_10445388	10422715	T T	TAAAGAAA others(353): Show TAAAGAAATGGGAACATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0162 a0001c0004t0162	a0001c0004t0162g0158 a0001c0004t0162g0158	1	284	0.0035	360	c.228 others(379): Show c.2284-1002_2284-1001insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAGAAATGGGAACATTG	MARCHF6	ENSG00000145495.17	transcript	ENST00000274140.10	protein_coding	22/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(353): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATATT CATATATAGATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATTCATATATATTCATATATATATTCATATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATTCATATATATATTCATATATATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	191	0.0052	360	c.343 others(377): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATAT GAATATATATATGAATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATCTATATATGAATATATATATGAATCT ATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583270	A A	ACAGCCAC others(353): Show ACAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0034 a0034	a0034c0033 a0034c0033	a0034c0033t0001 a0034c0033t0001	a0034c0033t0001g0052 a0034c0033t0001g0052	1	292	0.0034	360	c.377 others(377): Show c.377-3342_377-3341insCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583342	G G	GCAGCCAC others(353): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACCCA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0073 a0073	a0073c0083 a0073c0083	a0073c0083t0001 a0073c0083t0001	a0073c0083t0001g0032 a0073c0083t0001g0032	1	292	0.0034	360	c.377 others(377): Show c.377-3414_377-3413insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583628	G G	GCGCAGCC others(353): Show GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCAC CAGACAACACACAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCA GACAACGCGCATCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20300.hp1 NA18906.hp2 NA20300.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0012 a0009c0009t0012	a0009c0009t0012g0261 a0009c0009t0012g0262 a0009c0009t0012g0261 a0009c0009t0012g0262	2	292	0.0069	360	c.377 others(377): Show c.377-3700_377-3699insGGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGGGTTGTCTGGTGGATGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGGGTTGTCTGGTGGCTGTGTGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar

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