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
CLIC4_chr1_24740447_24849321	24834850	CGGGAGAG others(31): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0332 a0001c0001t0004g0332	1	342	0.0029	-38	c.416 others(55): Show c.416-4997_416-4960delGGGAGACGGGAGAGGGAGACGGGAGAGG GAGAGGGAGA	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLMP_chr11_123064872_123200248	123118961	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	252	0.0040	-38	c.29- others(55): Show c.29-21047_29-21010delAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLMP_chr11_123064872_123200248	123118971	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0251 a0001c0001t0047g0251	1	243	0.0041	-38	c.29- others(55): Show c.29-21057_29-21020delGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLOCK_chr4_55422903_55551909	55542351	AATAATAA others(31): Show AATAATAATAATAATAATAATAATAATAATATTATTATT	A A	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	336	0.0030	-38	c.-29 others(57): Show c.-290+4393_-290+4430delAATAATAATATTATTATTATTATTAT TATTATTATTAT	CLOCK	ENSG00000134852.15	transcript	ENST00000513440.6	protein_coding	1/22			chr4	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(31): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00597.hp2 HG00642.hp1 others(38): Show HG00323.hp2 HG00597.hp2 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01928.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03195.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA18941.hp2 NA18972.hp2 NA18984.hp2 NA19000.hp2 NA19003.hp2 NA19011.hp1 NA19056.hp1 NA19066.hp2 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0002 a0004c0012 a0005c0011 others(1): Show a0001c0002 a0004c0012 a0005c0011 a0006c0013	a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 others(19): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0023 a0001c0002t0028 a0001c0002t0073 a0001c0002t0074 a0001c0002t0075 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0099 a0001c0002t0102 a0001c0002t0104 a0001c0002t0106 a0001c0002t0118 a0004c0012t0103 a0005c0011t0010 a0006c0013t0105	a0001c0002t0003g0017 a0001c0002t0003g0092 a0001c0002t0003g0093 others(38): Show a0001c0002t0003g0017 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0094 a0001c0002t0003g0135 a0001c0002t0003g0137 a0001c0002t0004g0016 a0001c0002t0004g0091 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0130 a0001c0002t0004g0166 a0001c0002t0009g0148 a0001c0002t0009g0158 a0001c0002t0009g0161 a0001c0002t0009g0164 a0001c0002t0010g0089 a0001c0002t0010g0131 a0001c0002t0010g0133 a0001c0002t0011g0177 a0001c0002t0011g0178 a0001c0002t0011g0179 a0001c0002t0011g0180 a0001c0002t0023g0057 a0001c0002t0023g0090 a0001c0002t0028g0100 a0001c0002t0073g0192 a0001c0002t0074g0165 a0001c0002t0075g0088 a0001c0002t0095g0163 a0001c0002t0096g0099 a0001c0002t0097g0162 a0001c0002t0098g0181 a0001c0002t0099g0129 a0001c0002t0102g0134 a0001c0002t0104g0085 a0001c0002t0106g0132 a0001c0002t0118g0136 a0004c0012t0103g0171 a0005c0011t0010g0159 a0006c0013t0105g0095	41	59	0.6949	-38	c.142 others(57): Show c.1420-2026_1420-1989delACACACACACACACACACACACACAC ACACACACACAC	CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16			chr11	TogoVar
CLPX_chr15_65143219_65190342	65146020	AATATATA others(31): Show AATATATATATAAATATATATATAAATATATATATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02630.hp2 NA19240.hp2 HG02258.hp1 HG02630.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0053 a0001c0001t0005g0058 a0001c0001t0017g0051 a0001c0001t0005g0053 a0001c0001t0005g0058 a0001c0001t0017g0051	3	180	0.0167	-38	c.47 others(49): Show c.4765_*4802delATTTATATATATATTTATATATATATTTATATAT ATAT	CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding		2198		chr15	TogoVar
CLSTN2_chr3_139930185_140582397	140264375	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01081.hp1 others(17): Show HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01433.hp1 HG02109.hp1 HG02145.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03704.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0015 a0002c0002 a0002c0007 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0003 a0001c0003t0019 a0001c0003t0020 a0001c0008t0009 a0001c0009t0022 a0001c0015t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0033 a0002c0002t0040 a0002c0002t0044 a0002c0007t0003 a0002c0010t0003 a0002c0010t0024	a0001c0001t0001g0003 a0001c0001t0001g0093 a0001c0001t0002g0033 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0093 a0001c0001t0002g0033 a0001c0001t0013g0090 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0019g0062 a0001c0003t0020g0009 a0001c0008t0009g0042 a0001c0009t0022g0049 a0001c0015t0001g0021 a0002c0002t0002g0054 a0002c0002t0002g0086 a0002c0002t0005g0050 a0002c0002t0033g0008 a0002c0002t0040g0078 a0002c0002t0044g0096 a0002c0007t0003g0083 a0002c0010t0003g0109 a0002c0010t0024g0023	20	30	0.6667	-38	c.232 others(57): Show c.232+88318_232+88355delTATATATATATATATATATATATATA TATATATATATA	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLSTN2_chr3_139930185_140582397	140427191	ATATATAT others(31): Show ATATATATATATATGTGTATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	110	0.0091	-38	c.787 others(55): Show c.787+5931_787+5968delGTGTATATATATATATATATGTGTGTAT ATATATATAT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUH_chr17_2684387_2716764	2691949	CCGCCCCG others(31): Show CCGCCCCGCCACGCCCCCGCCCCGCCCCCGCCCCCGCCA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	395	0.0025	-38	c.365 others(53): Show c.3654+17_3654+54delTGGCGGGGGCGGGGGCGGGGCGGGGGCGTG GCGGGGCG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUH_chr17_2684387_2716764	2714529	ATCTCAGC others(31): Show ATCTCAGCTCATTGCAACCCCGCCTCCCGGGTTCAAGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	418	0.0024	-38	c.-29 others(49): Show c.-2906_-2869delCGCTTGAACCCGGGAGGCGGGGTTGCAATGAGCT GAGA	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding		2766		chr17	TogoVar
CMC1_chr3_28236619_28330142	28300631	ATCCCTTT others(31): Show ATCCCTTTCCCTCCCTCCATCCCTTTCCCTCCCTTTCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0318 a0001c0001t0020g0318	1	336	0.0030	-38	c.110 others(57): Show c.110-15686_110-15649delCCATCCCTTTCCCTCCCTTTCCCTCC CTTTCCCTCCCT	CMC1	ENSG00000187118.14	transcript	ENST00000466830.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
CMKLR1_chr12_108283046_108344311	108342124	GAAGGAGG others(31): Show GAAGGAGGAAGAGAGGAGGAGGAGGGAAGAGGAGGGGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0243 a0001c0002t0004g0243	1	398	0.0025	-38	c.-34 others(49): Show c.-3422_-3385delGACCCCTCCTCTTCCCTCCTCCTCCTCTCTTCCT CCTT	CMKLR1	ENSG00000174600.14	transcript	ENST00000550402.6	protein_coding		2814		chr12	TogoVar
CMKLR2_chr2_206170316_206218371	206172592	AGGAGAGG others(31): Show AGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	238	0.0042	-38	c.35 others(49): Show c.3550_*3587delCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2723		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172785	AGGGAGAG others(31): Show AGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	314	0.0032	-38	c.33 others(49): Show c.3357_*3394delGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2530		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173018	CGGGAGAG others(31): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0038 a0002c0003t0003g0038	1	319	0.0031	-38	c.31 others(49): Show c.3124_*3161delTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCTC TCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2297		chr2	TogoVar
CMSS1_chr3_99812862_100186732	100115557	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	203	0.0049	-38	c.65- others(55): Show c.65-31398_65-31361delGTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCT	CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	11	0.0909	-38	c.112 others(57): Show c.112+10182_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN5_chr11_99015949_100363885	99213367	TATATATG others(31): Show TATATATGTATATACATATATACACGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02258.hp1 others(1): Show HG01081.hp1 HG02109.hp1 HG02258.hp1 HG06807.hp1	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0006 a0006c0005 a0007c0010 a0004c0006 a0006c0005 a0007c0010	a0004c0006t0013 a0006c0005t0010 a0006c0005t0018 others(1): Show a0004c0006t0013 a0006c0005t0010 a0006c0005t0018 a0007c0010t0011	a0004c0006t0013g0025 a0006c0005t0010g0006 a0006c0005t0018g0028 others(1): Show a0004c0006t0013g0025 a0006c0005t0010g0006 a0006c0005t0018g0028 a0007c0010t0011g0009	4	66	0.0606	-38	c.-20 others(61): Show c.-209-111918_-209-111881delACGTGTATATATACACATATAT GTATATACATATATAC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098759	CACACACA others(31): Show CACACACACACACACACACACACACACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02965.hp2 HG02145.hp1 HG02965.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0002 a0004c0016t0001g0003 a0004c0016t0001g0002 a0004c0016t0001g0003	2	177	0.0113	-38	c.-83 others(55): Show c.-83+5641_-83+5678delCACACACACACACACACACACACACACA CATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1245207	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0196 a0001c0005t0001g0196	1	230	0.0043	-38	c.358 others(57): Show c.358+17226_358+17263delTATATATATATATATATACACACACA CATATATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146151660	ATATATAT others(31): Show ATATATATATATATATATATATGTATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0011 a0001c0008t0001 a0001c0003t0011 a0001c0008t0001	a0001c0003t0011g0023 a0001c0008t0001g0025 a0001c0003t0011g0023 a0001c0008t0001g0025	2	40	0.0500	-38	c.97+ others(55): Show c.97+34703_97+34740delATATATGTATATATATATATATGTATAT ATATATATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147130237	GACCATGT others(31): Show GACCATGTCTCTACAACAAGTTAAGAAAATTAAAATTAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03225.hp2 HG00735.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0019 a0001c0018 a0001c0019	a0001c0018t0002 a0001c0019t0006 a0001c0018t0002 a0001c0019t0006	a0001c0018t0002g0012 a0001c0019t0006g0015 a0001c0018t0002g0012 a0001c0019t0006g0015	2	40	0.0500	-38	c.108 others(57): Show c.1083+1403_1083+1440delCCATGTCTCTACAACAAGTTAAGAAA ATTAAAATTAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147618667	ATATAATA others(31): Show ATATAATAACAGCTATTATATATATATAATAACAGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20129.hp2 NA21309.hp2 HG02451.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0018 a0001c0002t0001 a0001c0003t0023 a0001c0001t0018 a0001c0002t0001 a0001c0003t0023	a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0003t0023g0030 a0001c0001t0018g0001 a0001c0002t0001g0007 a0001c0003t0023g0030	3	40	0.0750	-38	c.189 others(59): Show c.1898-20434_1898-20397delATAACAGCTATTATATATATATAA TAACAGCTATTATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148366014	ATGCATGT others(31): Show ATGCATGTATGCATGTGTGTGTATGCATGTATGCATGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0005 a0001c0005t0008g0005	1	33	0.0303	-38	c.347 others(59): Show c.3476-17632_3476-17595delCATGTATGCATGTGTGTGTATGCA TGTATGCATGTGTG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COA1_chr7_43634257_43734523	43691314	AAAGAAAG others(31): Show AAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	381	0.0026	-38	c.-39 others(57): Show c.-39+38077_-39+38114delCCTCCCTCCCTCTCTCTCTTTCTCTT TCTTTCTTTCTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COG1_chr17_73188055_73213507	73192818	CCGCGCCC others(31): Show CCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00642.hp1 others(4): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG01255.hp2 HG01993.hp1 HG03225.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0014 a0003c0005t0001g0045 a0003c0005t0001g0046 others(2): Show a0003c0005t0001g0014 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048	7	422	0.0166	-38	c.-25 others(47): Show c.-251_-214delCGCGCCCGCCCCCGCGCCCGCGCCCGCCCCCGCCCC CT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		236		chr17	TogoVar
COL18A1_chr21_45400165_45518720	45437784	ACTCACAC others(31): Show ACTCACACACAGACACACAGGCACTCTCCTGCACACACT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show HG02109.hp2 HG02630.hp2 HG03130.hp1 HG03579.hp1	a0001 a0007 a0001 a0007	a0001c0066 a0007c0018 a0001c0066 a0007c0018	a0001c0066t0005 a0007c0018t0005 a0001c0066t0005 a0007c0018t0005	a0001c0066t0005g0036 a0007c0018t0005g0045 a0007c0018t0005g0110 others(1): Show a0001c0066t0005g0036 a0007c0018t0005g0045 a0007c0018t0005g0110 a0007c0018t0005g0112	4	231	0.0173	-38	c.107 others(57): Show c.107-30456_107-30419delTCACACACAGACACACAGGCACTCTC CTGCACACACTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437926	ACACACAC others(31): Show ACACACACACACACACTCAGACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03486.hp2 HG02818.hp2 HG03486.hp2	a0001 a0026 a0001 a0026	a0001c0001 a0026c0056 a0001c0001 a0026c0056	a0001c0001t0001 a0026c0056t0001 a0001c0001t0001 a0026c0056t0001	a0001c0001t0001g0194 a0026c0056t0001g0091 a0001c0001t0001g0194 a0026c0056t0001g0091	2	290	0.0069	-38	c.107 others(57): Show c.107-30304_107-30267delACACTCAGACACACAGGCACTCTCCT GCACACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45438266	ACTCAGAC others(31): Show ACTCAGACACACAGGCACTCTCCTGCACACACACACACT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0032 a0032	a0032c0092 a0032c0092	a0032c0092t0001 a0032c0092t0001	a0032c0092t0001g0124 a0032c0092t0001g0124	1	290	0.0034	-38	c.107 others(57): Show c.107-29974_107-29937delTCAGACACACAGGCACTCTCCTGCAC ACACACACACTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45510971	AAACACCC others(31): Show AAACACCCCCCACACCCCACACACACAACACACCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18953.hp2 NA19012.hp1 HG02735.hp1 NA18953.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0055 a0001c0002 a0001c0005 a0001c0055	a0001c0002t0003 a0001c0005t0003 a0001c0055t0003 a0001c0002t0003 a0001c0005t0003 a0001c0055t0003	a0001c0002t0003g0123 a0001c0005t0003g0213 a0001c0055t0003g0139 a0001c0002t0003g0123 a0001c0005t0003g0213 a0001c0055t0003g0139	3	290	0.0103	-38	c.369 others(55): Show c.3694-139_3694-102delAACACCCCCCACACCCCACACACACAAC ACACCCCCCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	40/41			chr21	TogoVar
COL1A2_chr7_94389895_94436227	94421772	CCTACCTC others(31): Show CCTACCTCCTACTCCTTGGTCTATTCCTGGTCACATGTA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(90): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02148.hp1 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0009 a0011 a0013	a0001c0001 a0001c0002 a0001c0007 others(6): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0005c0030 a0007c0031 a0009c0034 a0011c0025 a0013c0032	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0007t0001 a0002c0004t0001 a0005c0030t0001 a0007c0031t0001 a0009c0034t0001 a0011c0025t0001 a0013c0032t0001	a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0117 others(45): Show a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0003g0046 a0001c0001t0003g0106 a0001c0001t0003g0122 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0001g0025 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0072 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0105 a0001c0002t0001g0128 a0001c0002t0001g0150 a0001c0002t0001g0247 a0001c0002t0002g0040 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0103 a0001c0002t0002g0151 a0001c0002t0003g0011 a0001c0002t0003g0017 a0001c0002t0003g0031 a0001c0007t0001g0076 a0002c0004t0001g0049 a0002c0004t0001g0064 a0005c0030t0001g0096 a0007c0031t0001g0091 a0009c0034t0001g0039 a0011c0025t0001g0064 a0013c0032t0001g0095	93	436	0.2133	-38	c.235 others(54): Show c.2350-124_2350-87delACCTCCTACTCCTTGGTCTATTCCTGGTC ACATGTACT	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding	38/51		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL1A2_chr7_94389895_94436227	94436144	AAGTGGAT others(31): Show AAGTGGATGGACCTTTCTATCGCTACAATATGTCAATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0183 a0001c0003t0001g0183	1	436	0.0023	-38	c.57 others(49): Show c.5752_*5789delAGTGGATGGACCTTTCTATCGCTACAATATGTCA ATTC	COL1A2	ENSG00000164692.19	transcript	ENST00000297268.11	protein_coding		4918		chr7	TogoVar
COL2A1_chr12_47967967_48009476	48008115	GAGAGAGA others(31): Show GAGAGAGAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01361.hp1 HG00423.hp2 HG01361.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0240 a0001c0004t0001g0012 a0001c0004t0001g0240	2	351	0.0057	-38	c.-38 others(49): Show c.-3832_-3795delTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTCT CTCT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		3640		chr12	TogoVar
COL4A3_chr2_227159624_227319792	227203174	TGTGTATA others(31): Show TGTGTATATGTGTGTATATATACATATATGTGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18995.hp1 HG06807.hp2 NA18995.hp1	a0003 a0012 a0003 a0012	a0003c0002 a0012c0017 a0003c0002 a0012c0017	a0003c0002t0003 a0012c0017t0006 a0003c0002t0003 a0012c0017t0006	a0003c0002t0003g0326 a0012c0017t0006g0003 a0003c0002t0003g0326 a0012c0017t0006g0003	2	340	0.0059	-38	c.88- others(55): Show c.88-34793_88-34756delGTGTATATGTGTGTATATATACATATAT GTGTATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041810	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02717.hp1 HG02818.hp1	a0030 a0031 a0030 a0031	a0030c0029 a0031c0055 a0030c0029 a0031c0055	a0030c0029t0004 a0031c0055t0029 a0030c0029t0004 a0031c0055t0029	a0030c0029t0004g0026 a0031c0055t0029g0175 a0030c0029t0004g0026 a0031c0055t0029g0175	2	281	0.0071	-38	c.350 others(55): Show c.3505+300_3505+337delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL6A1_chr21_45976770_46010048	45981239	CGCGGAGA others(31): Show CGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	126	0.0079	-38	c.-61 others(47): Show c.-611_-574delGCGGAGATCTGATAAAGCAACAATTCAGCTCACGGC GA	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		530		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01256.hp1 HG02129.hp1 others(2): Show HG00609.hp2 HG01256.hp1 HG02129.hp1 HG02897.hp2 NA18959.hp2	a0001 a0012 a0014 others(1): Show a0001 a0012 a0014 a0031	a0001c0002 a0001c0079 a0012c0018 others(2): Show a0001c0002 a0001c0079 a0012c0018 a0014c0019 a0031c0067	a0001c0002t0002 a0001c0079t0001 a0012c0018t0002 others(2): Show a0001c0002t0002 a0001c0079t0001 a0012c0018t0002 a0014c0019t0001 a0031c0067t0001	a0001c0002t0002g0157 a0001c0079t0001g0086 a0012c0018t0002g0002 others(2): Show a0001c0002t0002g0157 a0001c0079t0001g0086 a0012c0018t0002g0002 a0014c0019t0001g0302 a0031c0067t0001g0287	5	45	0.1111	-38	c.766 others(55): Show c.7668+798_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129638	GTATATAT others(31): Show GTATATATATACTATATACTAATGTAATATACATTAGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00733.hp1 others(55): Show HG00280.hp2 HG00423.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp2 NA18522.hp1 NA18906.hp2 NA18947.hp1 NA18960.hp2 NA18986.hp2 NA18998.hp2 NA19009.hp1 NA19030.hp2 NA19077.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0071 a0001c0001t0001g0090 a0001c0001t0001g0177 a0001c0001t0001g0191 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0005g0190 a0001c0005t0001g0106 a0002c0003t0001g0016 a0002c0003t0001g0017 a0002c0003t0001g0018 a0002c0003t0001g0019 a0002c0003t0001g0023 a0002c0003t0001g0032 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0339	58	348	0.1667	-38	c.400 others(55): Show c.400-4421_400-4384delTACTATATACTAATGTAATATACATTAG TATATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176133133	TACACATA others(31): Show TACACATACGTATATACGTACATATATATACGTATGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp2 HG01169.hp1 others(9): Show HG00099.hp1 HG01167.hp2 HG01169.hp1 HG02055.hp1 HG02735.hp1 HG03130.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 NA18954.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 others(9): Show a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0277 a0001c0001t0004g0278 a0001c0001t0004g0279 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0005g0275 a0001c0001t0005g0276	12	298	0.0403	-38	c.968 others(55): Show c.968+1839_968+1876delGTACATACGTATATATATGTACGTATAT ACGTATGTGT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	8/19			chr1	TogoVar
COPB2_chr3_139352406_139394647	139385020	ACGAAGTC others(31): Show ACGAAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGG	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	262	0.0038	-38	c.4-1 others(51): Show c.4-1623_4-1586delCCACTGCACTCCAGCCTGGACGACAGAGCGAG ACTTCG	COPB2	ENSG00000184432.11	transcript	ENST00000333188.10	protein_coding	1/21			chr3	TogoVar
COPG2_chr7_130501238_130673748	130513321	ATATATAT others(31): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0237 a0001c0002t0007g0237	1	320	0.0031	-38	c.215 others(57): Show c.2150-4700_2150-4663delCACACACACACACACACATATATATA TATATATATATA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23			chr7	TogoVar
COPS5_chr8_67038079_67067133	67041968	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	64	0.0156	-38	c.12 others(49): Show c.1227_*1264delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding		1110		chr8	TogoVar
COQ3_chr6_99364401_99399195	99378105	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00738.hp1 others(20): Show HG00280.hp1 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp1 HG02148.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG03239.hp2 HG03710.hp2 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0230 a0001c0001t0002g0239	23	293	0.0785	-38	c.387 others(53): Show c.387-658_387-621delATATATATATATATATATATATATATATAT ATATATAT	COQ3	ENSG00000132423.12	transcript	ENST00000254759.8	protein_coding	3/6			chr6	TogoVar
COQ8A_chr1_226935294_226992544	226944712	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00735.hp1 others(41): Show HG00099.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01106.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02451.hp2 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03491.hp1 HG03540.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18969.hp2 NA18982.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18994.hp1 NA19010.hp1 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19074.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0002 a0002c0004 others(2): Show a0001c0001 a0001c0002 a0002c0004 a0004c0017 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0002c0004t0003 a0004c0017t0001 a0008c0015t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(37): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0053 a0001c0001t0001g0075 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0004g0182 a0001c0002t0003g0213 a0002c0004t0003g0021 a0002c0004t0003g0022 a0002c0004t0003g0093 a0002c0004t0003g0094 a0002c0004t0003g0095 a0002c0004t0003g0096 a0002c0004t0003g0186 a0002c0004t0003g0187 a0004c0017t0001g0016 a0008c0015t0001g0106	44	410	0.1073	-38	c.-10 others(55): Show c.-10+4327_-10+4364delAGAGAGAGAGAGAGAGAGAGAGAGTGAG AGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226944726	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0330 a0003c0005t0005g0330	1	388	0.0026	-38	c.-10 others(55): Show c.-10+4341_-10+4378delAGAGAGAGAGTGAGAGAGAGAGAGTGAG AGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPEB3_chr10_92041692_92296078	92258625	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01928.hp2 HG01952.hp2 others(1): Show HG01070.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0177 a0001c0003t0001g0186 others(1): Show a0001c0003t0001g0149 a0001c0003t0001g0177 a0001c0003t0001g0186 a0001c0003t0001g0200	4	182	0.0220	-38	c.-11 others(57): Show c.-11-18302_-11-18265delATATATATATATATATATATATATAT ATATATATATAT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB4_chr5_173883349_173966980	173964550	GGGGTGAG others(31): Show GGGGTGAGGGTGGGGTGGGGTGAGGGTGAGGGTTGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03195.hp2 HG06807.hp1 HG02809.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0049 a0001c0001t0006 a0001c0001t0013 a0001c0001t0049	a0001c0001t0006g0136 a0001c0001t0013g0040 a0001c0001t0049g0259 a0001c0001t0006g0136 a0001c0001t0013g0040 a0001c0001t0049g0259	3	370	0.0081	-38	c.84 others(49): Show c.8414_*8451delGGGTGAGGGTGGGGTGGGGTGAGGGTGAGGGTTG GGGT	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding		2571		chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0155 a0001c0001t0011g0155	1	8	0.1250	-38	c.337 others(53): Show c.337+144_337+181delTATATATATATATATATATATATATATATA TATATATA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52			chr5	TogoVar
CPLX1_chr4_779957_831129	826415	GTGGACCC others(31): Show GTGGACCCGGGGGCGGGGGCGGGGGGCGGGGGCGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	240	0.0042	-38	c.-48 others(47): Show c.-487_-450delGCCCCCGCCCCCGCCCCCCGCCCCCGCCCCCGGGTC CA	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		287		chr4	TogoVar
CPLX1_chr4_779957_831129	826426	GGCGGGGG others(31): Show GGCGGGGGCGGGGGGCGGGGGCGGGGGCGGGGGGTGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG06807.hp2 HG01106.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0355 a0001c0001t0008g0357 a0001c0001t0004g0355 a0001c0001t0008g0357	2	413	0.0048	-38	c.-49 others(47): Show c.-498_-461delGTCCACCCCCCGCCCCCGCCCCCGCCCCCCGCCCCC GC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		298		chr4	TogoVar

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