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
ADGRL3_chr4_61195326_62083335	61847611	T T	TATAATAT others(204): Show TATAATATAAAATATATTATATATAATATAAAATATATATATAATATAAA ATATATTATATATATAATATAAAATATATTATATATATAATACAAAATAT ATTATATATAATACAAAATATATTATATATATAATACAAAATATATTATA TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0041 a0001c0002t0014g0041	1	52	0.0192	211	c.148 others(232): Show c.1480+33722_1480+33723insATAATATAAAATATATTATATATA ATATAAAATATATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATACAAAATATATTATATATAATACAAAATATATTA TATATATAATACAAAATATATTATATATATATAATATAAAATATATTATA TATATAATATAAAATATATTATATATATAATATAAAA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113413064	G G	GCTCGGTT others(204): Show GCTCGGTTCACCCACCGCCAACAGCGCCCCGCGGAGGCTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCC CGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0062 a0002c0005t0023g0062	1	257	0.0039	211	c.106 others(230): Show c.1062-4845_1062-4844insTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGC CTCCGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113413099	G G	GCTCGGTT others(204): Show GCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCAC CGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCC GCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03130.hp1 HG02572.hp2 HG03130.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0090 a0002c0005t0091 a0002c0005t0090 a0002c0005t0091	a0002c0005t0090g0055 a0002c0005t0091g0112 a0002c0005t0090g0055 a0002c0005t0091g0112	2	247	0.0081	211	c.106 others(230): Show c.1062-4880_1062-4879insTTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGCGCTGTTGGC GGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG CTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFDN_chr6_167821911_167977023	167976408	G G	GTGTGTTG others(204): Show GTGTGTTGGGAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGG GGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGGAGG AGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGGCAGTG GGGGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGGAGGCAGTGGGGGTCA TTCCCCCAGCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0075 a0001c0031t0001g0075	1	324	0.0031	211	c.64 others(222): Show c.6473_*6474insTGTGTTGGGAGGAGAAGGCAGTGGGGGTCATTCC CCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAG TGTGCGGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGG GAGGAGAAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAAGGAGG AGGCAGTGGGGGTCATTCCCCCAGCAC	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding		4386		chr6	TogoVar
AHCYL2_chr7_129220030_129435211	129331679	T T	TAAAAATA others(204): Show TAAAAATACAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18970.hp2 NA18989.hp1 HG00423.hp2 NA18970.hp2 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0210 a0001c0002t0003g0223 a0001c0002t0004g0228 a0001c0002t0003g0210 a0001c0002t0003g0223 a0001c0002t0004g0228	3	268	0.0112	211	c.364 others(230): Show c.364-47946_364-47945insAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACAAAAA	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	318050	C C	CCTCCCCC others(204): Show CCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTC TCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCC ACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCATCTTTTACCTCCCT CCCACCCTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02886.hp1 HG03130.hp2 others(2): Show HG01891.hp1 HG02886.hp1 HG03130.hp2 HG03139.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0027 a0004c0003t0010	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0012g0154 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0012g0154 a0001c0001t0027g0153 a0004c0003t0010g0157	5	265	0.0189	211	c.-37 others(222): Show c.-3780_-3779insCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCA CCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCC CTCACCTCCCCCCCCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC ATCTTTTACCTCCCTCCCACCCTGCAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3663		chr5	TogoVar
AMER2_chr13_25156679_25177288	25159121	A A	ATAATATA others(204): Show ATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCGCATATATAATATA TTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0000 a0001c0001t0069g0000	1	273	0.0037	211	c.10 others(224): Show c.10482_*10483insGAGCATATATAATATATTATATATGCGCATAT ATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATAT AATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2557		chr13	TogoVar
AMER2_chr13_25156679_25177288	25159121	A A	ATAATATA others(204): Show ATAATATATTATATATGCTCATATATAATATATTATATATGCTCATATAT AATATATTATATATGCTCATATATAATATATTATATATGCTCATATATAA TATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATA TATTATATATGCTCATATATAATATATTATATATGCTCATATATAATATA TTATATATGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	273	0.0037	211	c.10 others(224): Show c.10482_*10483insGAGCATATATAATATATTATATATGAGCATAT ATAATATATTATATATGAGCATATATAATATATTATATATGAGCATATAT AATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAA TATATTATATATGAGCATATATAATATATTATATATGAGCATATATAATA TATTATATATGAGCATATATAATATATTA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2557		chr13	TogoVar
ANO7_chr2_241183677_241230976	241218129	C C	CGGGGGGG others(204): Show CGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGCAGCGGGGGCGC GTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGG GCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGAGCGG GGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGGCGCGCAGGGGCGGAG CGGGGGGCAGCG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0024 a0011c0015t0024	a0011c0015t0024g0329 a0011c0015t0024g0329	1	389	0.0026	211	c.217 others(228): Show c.2179-105_2179-104insGGCAGCGGGGGCGCGCAGGGGCGGGGCG GGGGCAGCGGGGGCGCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGC AGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCG CGCAGGGGCGGAGCGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGG GCGCGCAGGGGCGGAGCGGGGGGCAGCGGGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
APOL3_chr22_36135329_36165755	36165240	T T	TAAAAATT others(204): Show TAAAAATTACTCAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0064 a0001c0003t0001g0064	1	348	0.0029	211	c.-46 others(222): Show c.-4660_-4659insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTGAGTAATTTTT	APOL3	ENSG00000128284.20	transcript	ENST00000424878.4	protein_coding		4486		chr22	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	146	0.0068	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	146	0.0068	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(204): Show GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCA CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0123 a0001c0002t0019g0123	1	146	0.0068	211	c.-18 others(222): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(204): Show CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACAC ATTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG03486.hp1 HG02622.hp2 HG02647.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0001 a0001c0018t0001 a0001c0001t0001 a0001c0018t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0018t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0018t0001g0230	3	193	0.0155	211	c.-20 others(222): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCGTGA others(204): Show CCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACA TTTACAGTGAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCCGTGA CCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAACACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	191	0.0052	211	c.-20 others(222): Show c.-2049_-2048insTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGG TCACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGTGGGAAG TGCTCACTGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687758	C C	CCCCGTGA others(204): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGT GAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	242	0.0041	211	c.-21 others(222): Show c.-2155_-2154insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACAGG GGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAG TGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1913		chr8	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(204): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	192	0.0052	211	c.102 others(228): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ASMTL_chrX_1398139_1457909	1449666	G G	GTAACTAT others(204): Show GTAACTATGCCCCATCATCAAACCCAGTAACTACCCCCCATCACCAGTAA CTATCCACCATCACCAGTAACTATCCCCCATCACCAGTAACTATGCCCCA TCATCACCAGTAACTATCCCCCCATCACCAGTAACTATCTCCCATCAACA GTAACTATCCTCCCATCACCAGTAACTATCCCCACATCACCAGTAACTAC CCCCATCACCAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01081.hp1 others(6): Show HG00544.hp1 HG00597.hp1 HG01081.hp1 HG01978.hp2 HG01993.hp1 HG02083.hp2 NA18966.hp1 NA18974.hp1 NA18994.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0009 a0001c0001 a0003c0002 a0004c0009	a0001c0001t0001 a0003c0002t0001 a0004c0009t0001 a0001c0001t0001 a0003c0002t0001 a0004c0009t0001	a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0003c0002t0001g0082 a0003c0002t0001g0083 a0004c0009t0001g0085	9	183	0.0492	211	c.93+ others(226): Show c.93+2871_93+3081dupTTGGTGATGGGGGTAGTTACTGGTGATGTG GGGATAGTTACTGGTGATGGGAGGATAGTTACTGTTGATGGGAGATAGTT ACTGGTGATGGGGGGATAGTTACTGGTGATGATGGGGCATAGTTACTGGT GATGGGGGATAGTTACTGGTGATGGTGGATAGTTACTGGTGATGGGGGGT AGTTACTGGGTTTGATGATGGGGCATAGTTA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(204): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATGTATCATATATTATATATGATATATATATCA TATATGATATATATGAATATATATATCATATATGATATATATGAATATAT ATATCATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0160 a0002c0001t0006g0160	1	268	0.0037	211	c.924 others(228): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATCATA TATAATATATGATACATATATTCATATATATCATATATGATATATATATT CATATATATCATATATGATATATATATTCATATATATCATATATGATATA TATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATOSA_chr15_52576321_52684388	52674205	T T	TAAGACCA others(204): Show TAAGACCACATTTTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA AGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGA CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03453.hp1 HG02559.hp2 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0195 a0004c0005t0001g0196	2	348	0.0057	211	c.16+ others(226): Show c.16+3800_16+3801insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTAAAATGTGGTCTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(204): Show GAGGGGGGAGGGGGAGGGAGGGGGGAGGGGGAGGGGGAAGGAGAGGGGGG ATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGG GGAGGGGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAG GGGGAGGGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGG ATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG06807.hp2 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0194 a0001c0002t0002g0195 a0001c0002t0002g0194 a0001c0002t0002g0195	2	3	0.6667	211	c.51+ others(224): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTC CCCCTCCCCCCTCCCTCCCCCTCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BCAS3_chr17_60672851_61397831	61045953	A A	AATATATA others(204): Show AATATATATATTATATATATAATATATATATTTATATATATATAATATAT ATATAATATATATATTATATATATATAATATATATATTTATATATATAAT ATATATATTTATATATATATAATATATATATTTATATATATATAATATAT ATATTTATATATATATAATATATATATTTATATATATATAATATATATAT TTATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0014 a0002c0005t0001g0014	1	59	0.0169	211	c.202 others(230): Show c.2029+5062_2029+5063insTATATATATTATATATATAATATATA TATTTATATATATATAATATATATATAATATATATATTATATATATATAA TATATATATTTATATATATAATATATATATTTATATATATATAATATATA TATTTATATATATATAATATATATATTTATATATATATAATATATATATT TATATATATATAATATATATATTTATATATATATA	BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
C1orf159_chr1_1076823_1121089	1077845	A A	AGGCTGAG others(204): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGG TGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	302	0.0033	211	c.50 others(222): Show c.5047_*5048insACCCCCCCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATAGC CTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAG TCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCC CCCCACGGAGTCCCCATAGCCTCAGCC	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3977		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1204783	T T	TGGGGCCC others(204): Show TGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCC CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18979.hp1 NA18944.hp2 NA18979.hp1	a0001 a0074 a0001 a0074	a0001c0001 a0074c0103 a0001c0001 a0074c0103	a0001c0001t0002 a0074c0103t0001 a0001c0001t0002 a0074c0103t0001	a0001c0001t0002g0140 a0074c0103t0001g0061 a0001c0001t0002g0140 a0074c0103t0001g0061	2	327	0.0061	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204783	T T	TGGGGCCC others(204): Show TGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCC CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA18747.hp1 others(5): Show HG02886.hp2 HG03471.hp2 NA18747.hp1 NA18955.hp2 NA18983.hp2 NA18998.hp2 NA19007.hp1 NA20129.hp1	a0001 a0004 a0058 others(2): Show a0001 a0004 a0058 a0063 a0080	a0001c0001 a0004c0019 a0058c0048 others(2): Show a0001c0001 a0004c0019 a0058c0048 a0063c0113 a0080c0096	a0001c0001t0002 a0004c0019t0001 a0058c0048t0016 others(2): Show a0001c0001t0002 a0004c0019t0001 a0058c0048t0016 a0063c0113t0001 a0080c0096t0001	a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0090 others(5): Show a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0187 a0004c0019t0001g0070 a0058c0048t0016g0031 a0063c0113t0001g0213 a0080c0096t0001g0144	8	333	0.0240	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204821	C C	CGGGTGGG others(204): Show CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGG GCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCGA TCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAGTGCC GGGGAGGGGTGGGAGCCACGGGTGGGGGCCCCAGATCAGTGCCGGGGAGG GGTGGGAGCCGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0050 a0050	a0050c0128 a0050c0128	a0050c0128t0037 a0050c0128t0037	a0050c0128t0037g0013 a0050c0128t0037g0013	1	291	0.0034	211	c.245 others(228): Show c.2452-243_2452-242insCCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCGATCAGTGCCGGGGAGGGGTGGGAGCCGCGG GTGGGGGCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204875	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCACGGGTGGGGGCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTG GGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGT GGGTGGGGCCCT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0202 a0002c0011t0002g0202	1	324	0.0031	211	c.245 others(228): Show c.2452-211_2452-210insACGGGTGGGGGCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGT GGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCG CGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGG GCCCTAGATCAGTGCCGGGGAGGGGTGGGAGCC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204875	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGG GAGGGGTGGGAGCCGTGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTG GGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGT GGGTGGGGCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02809.hp2 HG02965.hp1 others(8): Show HG01884.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03579.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp1	a0002 a0003 a0059 others(1): Show a0002 a0003 a0059 a0064	a0002c0011 a0002c0025 a0002c0043 others(4): Show a0002c0011 a0002c0025 a0002c0043 a0003c0132 a0003c0133 a0059c0044 a0064c0049	a0002c0011t0001 a0002c0011t0002 a0002c0011t0005 others(6): Show a0002c0011t0001 a0002c0011t0002 a0002c0011t0005 a0002c0025t0001 a0002c0043t0001 a0003c0132t0028 a0003c0133t0004 a0059c0044t0006 a0064c0049t0004	a0002c0011t0001g0224 a0002c0011t0001g0289 a0002c0011t0002g0200 others(8): Show a0002c0011t0001g0224 a0002c0011t0001g0289 a0002c0011t0002g0200 a0002c0011t0005g0274 a0002c0025t0001g0222 a0002c0025t0001g0225 a0002c0043t0001g0203 a0003c0132t0028g0277 a0003c0133t0004g0045 a0059c0044t0006g0193 a0064c0049t0004g0321	11	334	0.0329	211	c.245 others(228): Show c.2452-201_2452-200insGCCCAGATCAGTGCCGGGGAGGGGTGGG AGCCGCGGGTGGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTG GGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGC CCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAGATC AGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1204960	C C	CAGATCAG others(204): Show CAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAG TGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGG AGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGG GAGCCGCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCG GGTGGGGCCCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0031 a0031	a0031c0100 a0031c0100	a0031c0100t0007 a0031c0100t0007	a0031c0100t0007g0150 a0031c0100t0007g0150	1	31	0.0323	211	c.245 others(228): Show c.2452-154_2452-153insAGATCAGTGCCGGGGAGGGGTGGGAGCC GCGGGTGGGGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGG GGCCCCAGATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAG ATCAGTGCCGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCAGATCAGTGC CGGGGAGGGGTGGGAGCCGCGGGTGGGGCCCCA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	10/34			chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(204): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGAAGCGGGAGG AAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGAGGAAGGGGGGAAGC GGGAGGAAGGGGGGGGAAGTGGGAGGAAGTGGGAGGAAGGGGGAGGAAGG GGGAGGAAGGGGGGAAGCGGGAGGAAGGGGAAGGAAGGGGGAGGAAGGGG GTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp1 HG02015.hp2 others(1): Show HG00609.hp1 HG00621.hp1 HG02015.hp2 NA18940.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0001 a0005c0008t0001 a0001c0001t0001 a0005c0008t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0153 a0005c0008t0001g0116	4	76	0.0526	211	c.207 others(228): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC TCCCACTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCCCCTTCCTC CCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCGCTTCCCCCC CTTCCTCCCATTTCCTCCCCCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12694197	T T	TATTATGC others(204): Show TATTATGCATAATATATATTATATATTATATAAAATATATATTATGCATA ATATATATTATATATTATATAAAATATATATTATGCATAATATATATTAT ATAAAATATATATTATGCATAATATATATTATATATTATATAATGTATAA TATATAATATGCATAATATATAATATATATTATATATAATATAAAATATA TATTATGTATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0008g0113 a0001c0002t0008g0205	2	108	0.0185	211	c.299 others(230): Show c.299+27387_299+27388insATTATGCATAATATATATTATATATT ATATAAAATATATATTATGCATAATATATATTATATATTATATAAAATAT ATATTATGCATAATATATATTATATAAAATATATATTATGCATAATATAT ATTATATATTATATAATGTATAATATATAATATGCATAATATATAATATA TATTATATATAATATAAAATATATATTATGTATAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACAC others(204): Show CCACACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACATACACACTCACATACAGACACAACCACACCACACACACACACACA CAGACACAACCACACCACACACACACACACATACACACTCACATACAGAT ACAACCACACCA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18980.hp2 NA19012.hp1 NA18972.hp2 NA18980.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	169	0.0178	211	c.193 others(228): Show c.1939-640_1939-639insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACAGACACAACCACACCACACACACACACACATACACACTCACATA CAGATACAACCACACCACACACACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN15_chr16_522712_559636	544715	A A	ACGTCGTC others(204): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGC CTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCG CCTCCCCCACGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0203 a0001c0009t0002g0203	1	376	0.0027	211	c.-22 others(228): Show c.-22-2097_-22-2096insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTC GTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCTCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761476	A A	AAGGGCAA others(204): Show AAGGGCAACAGAATAAGACTCAGTCAAAAAAAAAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGA GGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0009 a0002c0003t0010g0009	1	295	0.0034	211	c.234 others(228): Show c.234+6831_234+6832insCCTTCTCCTTCCTCTTCCTCTCCTTCTC CTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTTTTTTTTGACTGAGTCTTATTCTGTTGCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTT CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 NA19005.hp1 HG02280.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0088 a0001c0001t0002g0004 a0001c0001t0002g0088	2	19	0.1053	211	c.-22 others(222): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(204): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCCCTTC CCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTC CCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	18	0.0556	211	c.-22 others(222): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGGAAGGGAGGGGGAGGGTGGTGG GAGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(204): Show AGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAG TGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGA GGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGA AGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp2 HG01175.hp2 others(4): Show HG00738.hp2 HG01071.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp1 HG03688.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0004t0009	a0002c0002t0001g0204 a0002c0002t0002g0001 a0002c0002t0002g0126 others(3): Show a0002c0002t0001g0204 a0002c0002t0002g0001 a0002c0002t0002g0126 a0002c0002t0002g0180 a0002c0002t0009g0128 a0002c0004t0009g0136	7	8	0.8750	211	c.727 others(228): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(204): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAG TGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGA GGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGA AGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0080 a0001c0001t0063g0080	1	2	0.5000	211	c.727 others(228): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCC TCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCCCT others(204): Show CCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCT CCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0175 a0001c0001t0033g0175	1	12	0.0833	211	c.-45 others(232): Show c.-455+14579_-455+14580insCCTCCCCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCC TCCCTTCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELSR1_chr22_46356174_46542620	46487606	C C	CGGGGGAG others(204): Show CGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTC CAGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGG GGGTGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGGCGCGGGGGAGG GGAGTCCAGGGTGCAGGTGGGAGGCGCGGGGGAGGGGAGTCCAGGGTGCA GGTGGGGGGCGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0034 a0006c0034	a0006c0034t0002 a0006c0034t0002	a0006c0034t0002g0066 a0006c0034t0002g0066	1	90	0.0111	211	c.354 others(232): Show c.3545-23262_3545-23261insACGCCCCCCACCTGCACCCTGGAC TCCCCTCCCCCGCGCCTCCCACCTGCACCCTGGACTCCCCTCCCCCGCGC CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCC CCGCGCCCCCCACCTGCACCCTGGACTCCCCTCCCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0251 a0001c0001t0017g0251	1	89	0.0112	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACATTTAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTAAATTTTT TGTTTAATTTAAATTAAACATTTAAATTAAATGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA19058.hp2 NA18991.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0128 a0003c0003t0002g0127 a0001c0001t0002g0128 a0003c0003t0002g0127	2	90	0.0222	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAATTTAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTAAATGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01243.hp1 HG02818.hp1 others(2): Show HG00735.hp1 HG01243.hp1 HG02818.hp1 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0319 a0001c0001t0003g0285 a0001c0001t0003g0286 others(2): Show a0001c0001t0001g0319 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288	5	93	0.0538	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACATTTAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CERT1_chr5_75372775_75516629	75503873	T T	TAATTTAA others(204): Show TAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTT AAATTTTTTGTTTAATTTAAATTAAACATTTAAATTTTTTGTTTAATTTA AATTAAACATTTAAATTTTTTGTTTAATTTAAATTAAACATTTAAATTAA ATGTTTAATTTAAATTAAACATTAAATTTTTTGTTTAATTTAAATTAAAC ATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01167.hp2 others(8): Show HG00741.hp2 HG01106.hp2 HG01167.hp2 HG02109.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp2 NA18949.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007	a0001c0001t0002g0183 a0001c0001t0005g0270 a0001c0001t0005g0271 others(8): Show a0001c0001t0002g0183 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0007g0184	11	99	0.1111	211	c.231 others(228): Show c.231+2108_231+2109insTTTAATTTAAATGTTTAATTTAAATTAA ACAAAAAATTTAATGTTTAATTTAAATTAAACATTTAATTTAAATGTTTA ATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAATTAAACAAAAAA TTTAAATGTTTAATTTAAATTAAACAAAAAATTTAAATGTTTAATTTAAA TTAAACAAAAAATTTAAATGTTTAATTTAAATT	CERT1	ENSG00000113163.19	transcript	ENST00000643780.2	protein_coding	2/16			chr5	TogoVar
CFAP61_chr20_20047532_20365698	20296054	C C	CCTGCCTT others(204): Show CCTGCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCC CTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTT CCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCT TCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCTT CCTTCCTGCCTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp1 others(5): Show HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp1 HG01978.hp1 HG02293.hp1 NA18942.hp2 NA18951.hp1	a0001 a0002 a0017 others(1): Show a0001 a0002 a0017 a0026	a0001c0001 a0002c0002 a0017c0040 others(1): Show a0001c0001 a0002c0002 a0017c0040 a0026c0031	a0001c0001t0002 a0002c0002t0002 a0017c0040t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0017c0040t0002 a0026c0031t0002	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0148 a0001c0001t0002g0181 a0002c0002t0002g0182 a0017c0040t0002g0160 a0026c0031t0002g0043	8	219	0.0365	211	c.321 others(230): Show c.3217-2126_3217-2125insTGCCTTCCCTTCCTCCCTCCCTCCCT ACCTCCCTCCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTC CTTCCTCCTTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTT TCTTCCTCCTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCC CATCCTCCTTCCCTCCCTCCTTCCTTCCTGCCTTC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647833	G G	GGTGGAGA others(204): Show GGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGGTCGGTGGAG AAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCG GCCGACGTGGACACCCAGCGCGGGGTCCGTGGAGAAAAGGCGGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGACACCC AGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	379	0.0026	211	c.253 others(226): Show c.253-503_253-502insGGACCCCGCGCTGGGTGTCCACGTCGGCCG CCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCT CCACGGACCCCGCGCTGGGTGTCCACGTCGGCCGCCTTTTCTCCACGGAC CCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COL4A1_chr13_110143963_110312157	110201301	C C	CGGAGGAA others(204): Show CGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAA GAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGA GGGGGAGGAGGAAGAGAAGGAGGGGGAGGAGGAAGAGAAGGAGGGGGGAG GAGGAAGAGAAGGAGGGGGCGGAGGAAGAGAAGGAGGGGGAGGAGGAAGA GAAGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0030 a0004c0021t0001g0030	1	286	0.0035	211	c.108 others(228): Show c.1084+136_1084+137insTCCCCCTCCTTCTCTTCCTCCTCCCCCT CCTTCTCTTCCTCCGCCCCCTCCTTCTCTTCCTCCTCCCCCCTCCTTCTC TTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCT CCCCCTCCTTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCCTCCCCCTCC TTCTCTTCCTCCTCCCCCTCCTTCTCTTCCTCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	19/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255622	A A	AGGCAGGA others(204): Show AGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0004 a0002c0026t0004	a0002c0026t0004g0340 a0002c0026t0004g0340	1	322	0.0031	211	c.85- others(228): Show c.85-12889_85-12888insCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCTCCTCCCTTCCTGCCTTCCCCCTTC CCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(204): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19240.hp2 HG02886.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0012 a0001c0001t0001g0013	2	201	0.0100	211	c.510 others(230): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CGTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CROCC2_chr2_240901336_240998311	240923922	G G	GTCCCCAC others(204): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACC CAGCCCCCCACACTAACCCAGCCCCCCACACTATCCCGGCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18984.hp2 NA19085.hp2 HG00597.hp2 NA18984.hp2 NA19085.hp2	a0010 a0025 a0010 a0025	a0010c0010 a0025c0037 a0010c0010 a0025c0037	a0010c0010t0003 a0025c0037t0001 a0010c0010t0003 a0025c0037t0001	a0010c0010t0003g0197 a0010c0010t0003g0221 a0025c0037t0001g0195 a0010c0010t0003g0197 a0010c0010t0003g0221 a0025c0037t0001g0195	3	215	0.0140	211	c.488 others(228): Show c.488+1277_488+1278insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTAACCCAGCCCCCACACTGACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar

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