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
NAGK_chr2_71063648_71084808	71081115	T T	TTTATTTT others(285): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	357	0.0028	292	c.26 others(303): Show c.2607_*2608insTTATTTTATTTTATTTTATTTTATTTTATTTTAT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTT ATTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATG	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1308		chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(285): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	154	0.0065	292	c.148 others(311): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAG GTAAGGGAGGGCAGAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGAC CCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(285): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCC CTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCT CCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	154	0.0065	292	c.148 others(311): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTA GGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGAC CCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667982	T T	TTCCTTAC others(285): Show TTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCACTACTGGGTC CCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACT GGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	154	0.0065	292	c.148 others(311): Show c.1480-3233_1480-3232insGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTA GGTAAGGAGGGCAGAGGGACCCAGTAGTGGGTAACGGGGGGCGGAGGGAC CCAGGGTCGGTAAGGA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(285): Show CCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC CCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCC CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	86	0.0116	292	c.-41 others(303): Show c.-4100_-4099insCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGC ACCCCGGGCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCC GGGCTCCACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCT	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		3985		chr22	TogoVar
NCKAP5_chr2_132666788_133573463	133221048	T T	TAAAAGGT others(285): Show TAAAAGGTATGAATCCTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0055 a0005c0021t0001g0055	1	69	0.0145	292	c.144 others(309): Show c.144-7270_144-7269insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAG GATTCATACCTTTT	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	4/19			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79427846	G G	GGGTGGGT others(285): Show GGGTGGGTGTAGGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGTAG GGGGAGCTGGACGGCTGGCCTCTGTGCAGTGAGTCGGGGAGGGGGGTGGC TAGACAGCTGGCCTCTGTGTGGTGGCAGGGCTGGACAGCTGGCCTCTGTG CAGTGGGTGGGGGGGTGCTGGACGGCTGGTCTTTGTGCAGTGAGGGGGCT GGACAACTGCCCTCTGTGCAGGGGTCGGGGGGAGCTGGATGGCTGGCCTC TGTGGGGTGGGTGTAGGGGGAGCTGGACGGCTGGCCTCTGTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0122 a0002c0002t0039g0122	1	285	0.0035	292	c.122 others(311): Show c.1227-5695_1227-5694insGGTGGGTGTAGGGGGAGCTGGACGGC TGGCCTCTGTGCAGTGAGTCGGGGAGGGGGGTGGCTAGACAGCTGGCCTC TGTGTGGTGGCAGGGCTGGACAGCTGGCCTCTGTGCAGTGGGTGGGGGGG TGCTGGACGGCTGGTCTTTGTGCAGTGAGGGGGCTGGACAACTGCCCTCT GTGCAGGGGTCGGGGGGAGCTGGATGGCTGGCCTCTGTGGGGTGGGTGTA GGGGGAGCTGGACGGCTGGCCTCTGTGCGGTGGGTGTAGGGGGAGCTGGA CGGCTGGCCTCTGTGC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678155	A A	ATCCATCC others(285): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCAT CCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCATC CATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCATTCTTCCATCCA TCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCAT CCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCCCATCCATCCAT CCATCCATCCATCCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0057 a0001c0001t0120g0057	1	358	0.0028	292	c.55 others(301): Show c.555_*556insATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCATCCATCCATCCATCCATCCATCC CTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	556	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678155	A A	ATCCATCC others(285): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCAT CCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATC CGTCCGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCA TTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTT CCATCCATCCATTCATTAGTTTATCCATCCTCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02615.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0153 a0002c0002t0154 a0002c0002t0153 a0002c0002t0154	a0002c0002t0153g0101 a0002c0002t0154g0163 a0002c0002t0153g0101 a0002c0002t0154g0163	2	359	0.0056	292	c.55 others(301): Show c.555_*556insATTTGTCCATCCATCCATCCACCTATCCATCCATCC GTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCA TCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATC CATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTT ATCCATCCTCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC CTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCAT CCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	556	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678159	A A	ATCCATCC others(285): Show ATCCATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCAT CCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCATCCATC CGTCCGTCCGTCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCA TCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCAT TCTTCCATCCATCCATTCATTAGTTTATCCATCCCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCCTCCATCCATTCATCCACTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG03486.hp1 HG02280.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0104 a0001c0001t0038 a0001c0001t0104	a0001c0001t0038g0118 a0001c0001t0038g0332 a0001c0001t0104g0344 a0001c0001t0038g0118 a0001c0001t0038g0332 a0001c0001t0104g0344	3	359	0.0084	292	c.55 others(301): Show c.555_*556insATCCATTTGTCCATCCATCCATCCACCTATCCATCC ATCCGTCCGTCTGTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCA TCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCATCCATC CATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCATCCATTC ATTAGTTTATCCATCCCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCAT CCATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	556	INFO_REALIGN_3_PRIME	chr19	TogoVar
NLGN1_chr3_173392744_174299372	174086258	C C	CATATATA others(285): Show CATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATATTTATGTATGTGCATACATATATATATTTATG TATGTGCATAAATATATATTTATGTATGTGCATAAATATATATATATTTA TGTATGTGCATAAATATATATATATTTATGTATGTGCATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02818.hp2 HG02922.hp2 HG01192.hp1 HG02818.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0009 a0001c0002t0012 a0001c0001t0004 a0001c0001t0009 a0001c0002t0012	a0001c0001t0004g0024 a0001c0001t0009g0028 a0001c0002t0012g0015 a0001c0001t0004g0024 a0001c0001t0009g0028 a0001c0002t0012g0015	3	18	0.1667	292	c.707 others(313): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATATTTATGTATGTGCATACATATATATATTTATG TATGTGCATAAATATATATTTATGTATGTGCATAAATATATATATATTTA TGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATATATA TATTTATGTATGTGCATA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLRP3_chr1_247411173_247453817	247427581	A A	ATGGCACC others(285): Show ATGGCACCTGCCTTACTCTGAGGACAGACTCTCACTGAAGCCCCGGTAGG AGGCTCAGCACCCATTTCTCTAGATAGCACCTTCCTTCCTCTGAGGACAG ACTCTGACTGGAACCCTGGTAGGGGGCTCAGCACCCATCCCTCTAGGTGG CACCTGCCTTACTCTGAGGACAGACTCTCACTGAAGCCCCGGTAGGAGGC TCAGCACCCATTTCTCTAGATAGCACCTTCCTTCCTCTGAGGACAGACTC TGACTGGAACCCTGGTAGGGGGCTCAGCACCCATCCCTCTAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01517.hp1 others(3): Show HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02145.hp1 HG03239.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0025 a0001c0001 a0001c0024 a0001c0025	a0001c0001t0007 a0001c0024t0021 a0001c0025t0007 a0001c0001t0007 a0001c0024t0021 a0001c0025t0007	a0001c0001t0007g0036 a0001c0001t0007g0100 a0001c0001t0007g0101 others(3): Show a0001c0001t0007g0036 a0001c0001t0007g0100 a0001c0001t0007g0101 a0001c0001t0007g0103 a0001c0024t0021g0102 a0001c0025t0007g0104	6	47	0.1277	292	c.215 others(311): Show c.2151-1898_2151-1897insCTGGAACCCTGGTAGGGGGCTCAGCA CCCATCCCTCTAGGTGGCACCTGCCTTACTCTGAGGACAGACTCTCACTG AAGCCCCGGTAGGAGGCTCAGCACCCATTTCTCTAGATAGCACCTTCCTT CCTCTGAGGACAGACTCTGACTGGAACCCTGGTAGGGGGCTCAGCACCCA TCCCTCTAGGTGGCACCTGCCTTACTCTGAGGACAGACTCTCACTGAAGC CCCGGTAGGAGGCTCAGCACCCATTTCTCTAGATAGCACCTTCCTTCCTC TGAGGACAGACTCTGA	NLRP3	ENSG00000162711.18	transcript	ENST00000336119.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NME4_chr16_392199_405754	397669	T T	TGTGGGGG others(285): Show TGTGGGGGGGGTGAGGAGTCGGGGGGTGGGGTGGGGGTGTGGGGGGGTGA GGGAAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	352	0.0028	292	c.91+ others(305): Show c.91+365_91+366insGTGAGGAGTCGGGGGGTGGGGTGGGGGTGTGG GGGGGTGAGGGAAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397733	T T	TGGGGGTG others(285): Show TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGG GGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	344	0.0029	292	c.91+ others(305): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961226	T T	TGTTAGTA others(285): Show TGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TTATAGTAACTATATTAATATATACTAACTATATTAATAATATAGTTAGT ATATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	2	0.5000	292	c.195 others(309): Show c.195+1898_195+1899insTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATATACTAACTATATTATTAATATAGTTAC TATATATTAATATATACTAACTATATTATTAATATAGTTAGTATATATTA ATATAGTTACTATAAATATACTAACTATATTATTAATATAGTTACTATAT ATTAATATACTAAC	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTCC others(285): Show TTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTT CCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	265	0.0038	292	c.-14 others(303): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAA AGGAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NR0B1_chrX_30299206_30314390	30310831	T T	TTCCTTTC others(285): Show TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	265	0.0038	292	c.-14 others(303): Show c.-1469_-1468insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGA AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAGGAAGGAAGGAA GGAAAGGA	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		1442		chrX	TogoVar
NSUN4_chr1_46335807_46370018	46337331	T T	TAAAAATA others(285): Show TAAAAATACAAAAGAAGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02965.hp1 HG03041.hp2 others(1): Show HG02897.hp2 HG02965.hp1 HG03041.hp2 HG06807.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0015 a0005c0005t0036 a0005c0005t0010 a0005c0005t0015 a0005c0005t0036	a0005c0005t0010g0030 a0005c0005t0010g0193 a0005c0005t0015g0017 others(1): Show a0005c0005t0010g0030 a0005c0005t0010g0193 a0005c0005t0015g0017 a0005c0005t0036g0194	4	284	0.0141	292	c.-34 others(303): Show c.-3496_-3495insAAAAATACAAAAGAAGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding		3475		chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(285): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACGA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCTGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(67): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19056.hp1 NA19062.hp2 NA19065.hp1 NA19074.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0012 a0002c0002 a0003c0003 a0006c0012	a0002c0002t0001 a0003c0003t0001 a0006c0012t0001 a0002c0002t0001 a0003c0003t0001 a0006c0012t0001	a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0018 others(66): Show a0002c0002t0001g0001 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0118 a0002c0002t0001g0215 a0003c0003t0001g0003 a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0015 a0003c0003t0001g0016 a0006c0012t0001g0078	70	304	0.2303	292	c.374 others(307): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAG AATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NUP93_chr16_56725129_56855286	56808231	T T	TATATAGT others(285): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0083	1	375	0.0027	292	c.489 others(309): Show c.489+2609_489+2610insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(285): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATATATA GTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	342	0.0029	292	c.489 others(309): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(285): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATATAGTTATGTAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	273	0.0073	292	c.489 others(309): Show c.489+2834_489+2835insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATATAGTTATGTAACTATATAAAATATATAGTTATGTAACTATA AAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(285): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATATAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0115 a0001c0002t0041g0115	1	272	0.0037	292	c.489 others(309): Show c.489+2834_489+2835insATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATA ACTATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATA ACTATATAAAATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATA AAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OBI1_chr13_78609289_78664155	78659300	A A	AAAAGAAA others(285): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	220	0.0045	292	c.-18 others(301): Show c.-181_-180insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		146		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659327	A A	AGAAAGAA others(285): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGAAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	240	0.0042	292	c.-20 others(301): Show c.-208_-207insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTTCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		173		chr13	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(285): Show CTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG00621.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	2	320	0.0063	292	c.487 others(309): Show c.487+1441_487+1442insCTTTCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(285): Show CTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18970.hp2 NA19087.hp1 others(1): Show HG04204.hp1 NA18970.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0011 a0001c0003t0003 a0001c0003t0011	a0001c0003t0003g0039 a0001c0003t0003g0048 a0001c0003t0003g0207 others(1): Show a0001c0003t0003g0039 a0001c0003t0003g0048 a0001c0003t0003g0207 a0001c0003t0011g0125	4	322	0.0124	292	c.487 others(309): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTGCTTTCTTG CTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(285): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTG CTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCT TTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0038 a0001c0003t0003g0038	1	319	0.0031	292	c.487 others(309): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCT TGCTTGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTT CTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
OSTF1_chr9_75083514_75152265	75139054	C C	CTTTCTTT others(285): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTGCTTTCTTGCTTTCTTGCT TTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTGCTTTCTTGCTTGCTTT CTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTGCTTTCTTT CTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTTCTTGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0035 a0001c0003t0003g0035	1	319	0.0031	292	c.487 others(309): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTG CTTTCTTGCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTGCT TGCTTTCTTGCTTGCTTTCTTGCTTGCTTTCTTGCTTTCTTGCTTTCTTG CTTTCTTTCTTGCTTTCTTGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCT TGCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTT CTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCTTTCTTGCTTTCT TTCTTTCTTGTTTT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(285): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCC CAGGGACCCTCCCAGCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTC AGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCCCAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	307	0.0033	292	c.981 others(309): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGTCCCGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGGGGAGAGCCGGGGGACG CTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTG GGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGT TCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCT GGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGAGGGGGGG AGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK5_chr20_9532370_9844076	9660319	T T	TAAGATTA others(285): Show TAAGATTATTTTACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00642.hp2 others(9): Show HG00280.hp1 HG00597.hp1 HG00642.hp2 HG00741.hp1 HG01243.hp1 HG01261.hp2 HG01361.hp2 HG02080.hp1 HG03017.hp2 HG04115.hp1 NA19012.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 others(1): Show a0001c0002 a0001c0004 a0002c0001 a0002c0017	a0001c0002t0002 a0001c0004t0015 a0002c0001t0001 others(5): Show a0001c0002t0002 a0001c0004t0015 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0013 a0002c0001t0014 a0002c0017t0009	a0001c0002t0002g0029 a0001c0002t0002g0169 a0001c0004t0015g0044 others(9): Show a0001c0002t0002g0029 a0001c0002t0002g0169 a0001c0004t0015g0044 a0002c0001t0001g0016 a0002c0001t0001g0102 a0002c0001t0001g0141 a0002c0001t0001g0147 a0002c0001t0002g0167 a0002c0001t0005g0162 a0002c0001t0013g0037 a0002c0001t0014g0086 a0002c0017t0009g0079	12	182	0.0659	292	c.-11 others(311): Show c.-11-15981_-11-15980insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGG CGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCC CGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGC CGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTAAAATAATCTT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	2/9			chr20	TogoVar
PCDH10_chr4_133144294_133199700	133178652	A A	ATGTATGT others(285): Show ATGTATGTTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0149 a0001c0001t0063g0149	1	379	0.0026	292	c.310 others(313): Show c.3104-11475_3104-11474insTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCT AATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTTGTATGTTACTTTT	PCDH10	ENSG00000138650.9	transcript	ENST00000264360.7	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(285): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	359	0.0028	292	c.-26 others(303): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCT ATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTAT CTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCT ATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGAT ACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(285): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	292	c.-26 others(303): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(285): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	321	0.0031	292	c.-26 others(303): Show c.-2680_-2679insGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(285): Show TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCTCCCCACTTCCCCTCCC TCTCCCTTGCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCCCTCCCCCT CCCCCTCCCCTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTC CCCCTCCCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTC CCCCTCCCCTGCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	7	0.1429	292	c.-37 others(303): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGCA GGGGAGGGGGAGGGGGAGGGCAGGGGAGGGGGAGGGGGAGGGCAGGGGAG GGGGAGGGGGAGTGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAG GGGAGGGGGAGGGGGAGGGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGG CAAGGGAGAGGGAGGGGAAGTGGGGAGGGGAGGGGGAGGGCAGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PCSK6_chr15_101298933_101494707	101493369	T T	TTCCCTCC others(285): Show TTCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTGCCCTCCCCCTCCCTTCCCCTGCCCTCC CCCTCCCCCTCCCCTCCCCACTTCCCCTCCCCCTCCCCTGCCCTCCTCCT CCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCTCCCCTGCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCT CCCCTGCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	7	0.1429	292	c.-37 others(303): Show c.-3700_-3699insGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGCAGGGGAGGGGGAGGGGGAGTGGGGAGGGGATGAGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGCAGGGGAGGGGAGGGGGAGTGGGGAGGGGATGA GGGAGGGGGAGGAGGAGGGCAGGGGAGGGGGAGGGGAAGTGGGGAGGGGA GGGGGAGGGGGAGGGCAGGGGAAGGGAGGGGGAGGGCAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGA	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3663		chr15	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACGAC others(285): Show TAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAGACACT AGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTATAGAC ACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACTATAGACTAGACTAGACTACACTACACTAC ACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	267	0.0037	292	c.847 others(307): Show c.847-209_847-208insGACGACTAGACTAGACTCTAGACTAGACAC TAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACA CTAGACTAGACTATAGACACTAGACTAGACACTAGACTAGACTATAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGAC TAGACTACACTACACTACACTACACTACACTACACTACACTAACTAAACA CACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACGAC others(285): Show TAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAGACACT AGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTATAGAC ACTAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACTATAGACTAGACTATACTACACTACACTAC ACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03710.hp2 HG03239.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0105 a0001c0001t0001g0111	2	268	0.0075	292	c.847 others(307): Show c.847-209_847-208insGACGACTAGACTAGACTCTAGACTAGACAC TAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTAGACA CTAGACTAGACTATAGACACTAGACTAGACACTAGACTAGACTATAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGAC TATACTACACTACACTACACTACACTACACTACACTACACTAACTAAACA CACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7203222	T T	TAGACTAG others(285): Show TAGACTAGACGACTAGACTAGACTCTAGACTAGACACTAGACTAGACTAG ACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACTA TAGACTAGACACTAGACTAGACACTAGACTAGACTATAGACTAGACACTA GACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAGACTATAGA CTAGACACTAGACTAGACTATAGACTAGACTATAGACTAGACTATACTAC ACTACACTACACTACACTACACTAACTAAACACACAACACTAA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	267	0.0037	292	c.847 others(307): Show c.847-209_847-208insGACTAGACGACTAGACTAGACTCTAGACTA GACACTAGACTAGACTAGACACTAGACTAGACTAGACACTAGACTAGACT AGACACTAGACTAGACTATAGACTAGACACTAGACTAGACACTAGACTAG ACTATAGACTAGACACTAGACTAGACTATAGACTAGACACTAGACTAGAC ACTAGACTAGACTATAGACTAGACACTAGACTAGACTATAGACTAGACTA TAGACTAGACTATACTACACTACACTACACTACACTACACTAACTAAACA CACAACACTAAA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718398	A A	AGTGGGGT others(285): Show AGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGT GGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT GTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTG CTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG GTGGGGTGTGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTG GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	368	0.0027	292	c.719 others(307): Show c.719+317_719+318insCGTGCTGGGTGGGGGGTCCTGGGTGGGGGG TCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGC TGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGG TGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGG GGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGTGTCCTGGGTGGGGTG CGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTC CTGGGTGGGGTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGC_chr6_41731711_41752397	41738135	T T	TATATATA others(285): Show TATATATACATATATATATGCATATATATATGCATATATATACGTATATA TATACATATATATATGCATATATATATACATATATATATGCATATATATG CATATATATACGTATATATATGCATATATATATGCATATATATACGTATA TATATGCATATATATATGCATATATATACGTATATATATGCATATATATA TGCATATATATGTATATATATACGTATATATATGCATATATATATGCATA TATATATGCGTATATATATGCATATATATACGTATATATATAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	460	0.0022	292	c.916 others(307): Show c.916-308_916-307insGTATATATATACGTATATATATGCATATAT ATACGCATATATATATGCATATATATATGCATATATATACGTATATATAT ACATATATATGCATATATATATGCATATATATACGTATATATATGCATAT ATATATGCATATATATACGTATATATATGCATATATATATGCATATATAT ACGTATATATATGCATATATATGCATATATATATGTATATATATATGCAT ATATATATGTATATATATACGTATATATATGCATATATATATGCATATAT ATATGTATATAT	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PIK3C2G_chr12_18256518_18653416	18598681	C C	CAAAAGAA others(285): Show CAAAAGAAACTACCATCAGACACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGTAGTC CCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCG GAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCGACA GAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01099.hp2 HG03688.hp1 others(1): Show HG00544.hp2 HG01099.hp2 HG03688.hp1 NA18984.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0005 a0003c0003 a0011c0052 a0002c0005 a0003c0003 a0011c0052	a0002c0005t0002 a0003c0003t0004 a0011c0052t0001 a0002c0005t0002 a0003c0003t0004 a0011c0052t0001	a0002c0005t0002g0009 a0002c0005t0002g0104 a0003c0003t0004g0169 others(1): Show a0002c0005t0002g0009 a0002c0005t0002g0104 a0003c0003t0004g0169 a0011c0052t0001g0027	4	145	0.0276	292	c.408 others(311): Show c.4087+4131_4087+4132insCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGAGCGGTGGCGGGCTCCTGT AGTCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGA GGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCCAGACGCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAAACTACCATCAGA	PIK3C2G	ENSG00000139144.11	transcript	ENST00000538779.6	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401088	G G	GCCCCGCT others(285): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCA CCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCC CGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGGC CCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	205	0.0049	292	c.173 others(309): Show c.1737+383_1737+384insCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCB1_chr20_8127266_8889900	8661960	T T	TAATTATT others(285): Show TAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATA ATTATATATAATTATATAATTATTTATTATATAATTATATATAATTATAT AATTATTTATTATATAATTATATATAATTATATAATTATTTATTATATAA TTATATATAATATACAATTATTTATTATATAATTATATATAATATACAAT TATTTATTATATAATTATATATAATATACAATTATTTATTATATAATTAT ATATAATATACAATTATTTATTATATAATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02615.hp2 HG02630.hp2 others(4): Show HG00438.hp2 HG02615.hp2 HG02630.hp2 HG02970.hp2 HG03492.hp1 HG03834.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(2): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0014	a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 others(4): Show a0001c0002t0003 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0006t0003 a0001c0014t0002	a0001c0002t0003g0079 a0001c0003t0001g0029 a0001c0003t0003g0070 others(4): Show a0001c0002t0003g0079 a0001c0003t0001g0029 a0001c0003t0003g0070 a0001c0004t0001g0040 a0001c0004t0002g0073 a0001c0006t0003g0017 a0001c0014t0002g0072	7	92	0.0761	292	c.862 others(309): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAT ATAATTATATAATTATTTATTATATAATTATATATAATTATATAATTATT TATTATATAATTATATATAATATACAATTATTTATTATATAATTATATAT AATATACAATTATTTATTATATAATTATATATAATATACAATTATTTATT ATATAATTATATATAATATACAATTATTTATTATATAATTATATATAATA TACAATTATTTATTATATAATTATATATAATTATATAATTATTTATTATA TAATTATATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLEKHG1_chr6_150594885_150848665	150706458	T T	TAGCTCAC others(285): Show TAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTC GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0098 a0001c0007t0003g0098	1	242	0.0041	292	c.-98 others(311): Show c.-98-27125_-98-27124insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(285): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0149 a0001c0007t0009g0149	1	2	0.5000	292	c.45+ others(303): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAG GGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGG GGCGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2122423	G G	GTAGTTAG others(285): Show GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTAT AGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGG TGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	145	0.0069	292	c.335 others(311): Show c.335-12836_335-12835insTTAGGGTCATGGTGGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCAC AGCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRC2B_chr9_131389086_131505193	131420465	C C	CTCTCTTT others(285): Show CTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCT CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTC CTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTTCCTTCCTTTCTTTCT TTCTTTCTTTGTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0006 a0004c0009t0006	a0004c0009t0006g0166 a0004c0009t0006g0166	1	196	0.0051	292	c.-51 others(309): Show c.-51-9628_-51-9627insCTCTTTCTCTCTTTCTCTCTTTCTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTT CTCTCTTTCTCTCTTTCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCT CCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTTCCTTTCTTTCTTTCTTTCTTTGTTTCTTTCTTTCTTTGTTT CTTTCTTTCTTTGT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAB11FIP3_chr16_420649_528011	468203	A A	AGTCAGGG others(285): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAG GGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0153 a0001c0002t0016g0153	1	284	0.0035	292	c.809 others(309): Show c.809-3076_809-3075insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTC CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGT CAGGGAGGAGGTGC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar

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