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
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(98): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0007 a0001c0001t0016g0007	1	38	0.0263	105	c.47- others(122): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(98): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTAC TGTTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0002 a0001c0037t0002	a0001c0037t0002g0117 a0001c0037t0002g0117	1	38	0.0263	105	c.47- others(122): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGG TGGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126948181	G G	GTGGTGGT others(98): Show GTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGT TGGTGA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0006 a0001c0042t0006	a0001c0042t0006g0018 a0001c0042t0006g0018	1	117	0.0085	105	c.47- others(122): Show c.47-22519_47-22518insGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGTTGGTGATG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(98): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	108	0.0093	105	c.316 others(124): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATGATATATATCATATATATCATATATATCAT ATATATCATATATATATCATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK8_chr9_209865_470255	277470	A A	AGAGGGGA others(98): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0122 a0002c0122	a0002c0122t0002 a0002c0122t0002	a0002c0122t0002g0232 a0002c0122t0002g0232	1	204	0.0049	105	c.156 others(122): Show c.156+5743_156+5744insGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	2/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(98): Show TCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCACCAC CTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA TCACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0206 a0002c0005t0001g0206	1	196	0.0051	105	c.323 others(122): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAT others(98): Show TCCACCATCACCACCATCTTCACCACCACCACCACCTCCACCACCAGCAC TTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA TCACCA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0116 a0002c0006t0001g0116	1	196	0.0051	105	c.323 others(122): Show c.3234+744_3234+745insTCACCACCATCTTCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCATCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400070	T T	TCACCACC others(98): Show TCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCACCACCAC CACCTC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0189 a0005c0013t0001g0189	1	209	0.0048	105	c.323 others(122): Show c.3234+816_3234+817insCCACCTCCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCA TCTTCACCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400572	C C	CCACCTCC others(98): Show CCACCTCCACCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 NA20300.hp1 HG01243.hp2 HG02486.hp2 NA20300.hp1	a0002 a0019 a0037 a0002 a0019 a0037	a0002c0097 a0019c0030 a0037c0037 a0002c0097 a0019c0030 a0037c0037	a0002c0097t0001 a0019c0030t0001 a0037c0037t0001 a0002c0097t0001 a0019c0030t0001 a0037c0037t0001	a0002c0097t0001g0010 a0019c0030t0001g0220 a0037c0037t0001g0026 a0002c0097t0001g0010 a0019c0030t0001g0220 a0037c0037t0001g0026	3	247	0.0121	105	c.323 others(124): Show c.3234+1324_3234+1325insCCACCTCCTTCACCATCACCATCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCATCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(98): Show CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACC AGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTC CACCAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01952.hp1 HG01081.hp2 HG01952.hp1	a0003 a0017 a0003 a0017	a0003c0004 a0017c0124 a0003c0004 a0017c0124	a0003c0004t0001 a0017c0124t0001 a0003c0004t0001 a0017c0124t0001	a0003c0004t0001g0161 a0017c0124t0001g0205 a0003c0004t0001g0161 a0017c0124t0001g0205	2	162	0.0123	105	c.323 others(124): Show c.3234+1467_3234+1468insTCCACCATCACCACCACCTCCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400826	A A	ACCACCAC others(98): Show ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCACCAC CTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCACCA CCATCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0036 a0036	a0036c0139 a0036c0139	a0036c0139t0003 a0036c0139t0003	a0036c0139t0003g0177 a0036c0139t0003g0177	1	224	0.0045	105	c.323 others(124): Show c.3234+1567_3234+1568insCCACCACCTCCACCATCACCACCTCC TTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCCACCAT CACCACCTCCTCCATCACCACCACCATCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CTCCACCA others(98): Show CTCCACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCA CCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACC TCCAAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01261.hp1 others(3): Show HG00323.hp1 HG00323.hp2 HG01261.hp1 HG01978.hp2 HG02004.hp1 NA19090.hp2	a0004 a0007 a0008 others(1): Show a0004 a0007 a0008 a0060	a0004c0073 a0007c0009 a0008c0021 others(1): Show a0004c0073 a0007c0009 a0008c0021 a0060c0131	a0004c0073t0001 a0007c0009t0001 a0008c0021t0001 others(1): Show a0004c0073t0001 a0007c0009t0001 a0008c0021t0001 a0060c0131t0002	a0004c0073t0001g0092 a0007c0009t0001g0249 a0007c0009t0001g0254 others(3): Show a0004c0073t0001g0092 a0007c0009t0001g0249 a0007c0009t0001g0254 a0007c0009t0001g0255 a0008c0021t0001g0201 a0060c0131t0002g0069	6	160	0.0375	105	c.323 others(124): Show c.3234+1716_3234+1717insTCCACCACCACCCTCACCACCTTCTC CACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCA ATATTATCACCTTTCCTATCACCTCCAAT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GCCTTCTT others(98): Show GCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	105	c.-49 others(116): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGG	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GTCTTCTT others(98): Show GTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	122	0.0082	105	c.-49 others(116): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar
DYM_chr18_49031387_49465645	49440858	T T	TTTATATA others(98): Show TTTATATAAATACATTATATTTTATATATTTATATAAATATATTATATTT TATATAATATATTATATATAATATATATAATATATATAATATTTTATATA AATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02723.hp1 HG01358.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0029 a0001c0001t0005 a0001c0001t0029	a0001c0001t0005g0251 a0001c0001t0029g0266 a0001c0001t0005g0251 a0001c0001t0029g0266	2	288	0.0069	105	c.-53 others(124): Show c.-53-10412_-53-10411insTATATTTATATAAAATATTATATATA TTATATATATTATATATAATATATTATATAAAATATAATATATTTATATA AATATATAAAATATAATGTATTTATATAA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537939	T T	TTTATATA others(98): Show TTTATATATATAATATATATATAATTTATATATATAATATATATATAATT TATATATATAATATATATATAAATTATATATATAATATATATAATTTATA TATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02129.hp1 others(7): Show HG00609.hp1 HG02040.hp2 HG02129.hp1 HG02135.hp1 NA18950.hp2 NA18951.hp2 NA18988.hp1 NA18995.hp1 NA19068.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0281 a0001c0001t0001g0283 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304	10	293	0.0341	105	c.739 others(120): Show c.739-836_739-835insTATATATATAAATTATATATATTATATATA TAATTTATATATATATTATATATATAAATTATATATATATTATATATATA AATTATATATATATTATATATATAA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(98): Show GGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG CGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGG CGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp2 NA19240.hp2 HG01884.hp1 HG02486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0001 a0002c0010t0003 a0001c0003t0001 a0002c0010t0003	a0001c0003t0001g0178 a0002c0010t0003g0029 a0002c0010t0003g0174 a0001c0003t0001g0178 a0002c0010t0003g0029 a0002c0010t0003g0174	3	177	0.0169	105	c.-26 others(114): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCG GGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCG GGGCGGGGCGGGGCGTGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742311	G G	GGGGGCGG others(98): Show GGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG CGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGG CGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0192 a0001c0002t0002g0192	1	175	0.0057	105	c.-26 others(114): Show c.-266_-265insGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCG GGGCGTGCCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCG GGGCGGGGCGGGGCGTGCC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		70		chr10	TogoVar
ECHDC3_chr10_11737382_11769070	11742341	A A	AGGGGCGT others(98): Show AGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGG CGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGG CGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG01891.hp2 HG02109.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0018 a0002c0006t0003g0059 a0002c0006t0003g0018 a0002c0006t0003g0059	2	114	0.0175	105	c.-23 others(114): Show c.-236_-235insGGGGCGTGCCGGGGCGGGGCGGGGCGGGGCGTGCCG GGGCGGGGCGGGGCGTGCCGGGGCGGGGCGGGGCGTGCCGGGGCGGGGCG GGGCGTGCCGGGGCGGGGC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		40		chr10	TogoVar
EFCAB6_chr22_43523778_43817305	43562561	A A	AGGTGGGA others(98): Show AGGTGGGAGGGAGGCAGCCTGGTGGGGGGTGGCAGGGAGGCAGCCCGGTG GGGGGTTGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCTG GTGCGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02293.hp2 HG02818.hp2 others(10): Show HG02257.hp2 HG02293.hp2 HG02818.hp2 HG03017.hp1 HG03209.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18967.hp1 NA19011.hp2 NA19043.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0027 a0006c0006 a0001c0001 a0001c0027 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0027t0001 a0006c0006t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(10): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0027t0001g0075 a0006c0006t0001g0272	13	275	0.0473	105	c.342 others(124): Show c.3421-7466_3421-7465insCCGCACCAGGCTGCCTCCCTCCCACC CCTGACCTGGGCTGCCTCCCTCCAACCCCCCACCGGGCTGCCTCCCTGCC ACCCCCCACCAGGCTGCCTCCCTCCCACC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43562567	G G	GAGGGAGG others(98): Show GAGGGAGGCAGCCTGGTGGGGGGTGGCAGGGAGGCAGCCCGGTGGGGGGT TGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGCCTGGTGCGG GGTGGC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0001 a0014c0017t0001	a0014c0017t0001g0282 a0014c0017t0001g0283 a0014c0017t0001g0282 a0014c0017t0001g0283	2	272	0.0074	105	c.342 others(124): Show c.3421-7472_3421-7471insGCCACCCCGCACCAGGCTGCCTCCCT CCCACCCCTGACCTGGGCTGCCTCCCTCCAACCCCCCACCGGGCTGCCTC CCTGCCACCCCCCACCAGGCTGCCTCCCT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EHMT1_chr9_137614005_137841127	137720012	A A	ACACAGTC others(98): Show ACACAGTCGAGGTGCCGAACCCCCTCCACACCAGGGCACAGTCGAGGTGC CGAACCCCCTCCACACCAGGGCACAGTCGAGGTGCCGAACCCCCTCCACA CCAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02809.hp2 others(4): Show HG02109.hp1 HG02486.hp2 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp2 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0008 a0001c0004 a0001c0006 a0001c0008	a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0001c0004t0001 a0001c0006t0001 a0001c0008t0001	a0001c0004t0001g0157 a0001c0006t0001g0146 a0001c0006t0001g0147 others(4): Show a0001c0004t0001g0157 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0008t0001g0150 a0001c0008t0001g0156	7	148	0.0473	105	c.642 others(122): Show c.642+2850_642+2851insCCCTCCACACCAGGGCACAGTCGAGGTG CCGAACCCCCTCCACACCAGGGCACAGTCGAGGTGCCGAACCCCCTCCAC ACCAGGGCACAGTCGAGGTGCCGAACC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780964	T T	TGAGACGT others(98): Show TGAGACGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGGGATGT GTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGAT GACGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02129.hp1 NA19007.hp1 HG01934.hp2 HG02129.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0114 a0001c0001t0001g0030 a0001c0001t0001g0091 a0001c0001t0001g0114	3	125	0.0240	105	c.227 others(124): Show c.2275+1267_2275+1268insCGGGATGTGTGGTGATGACGCCGGGA TGTGTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGT GATGACGCCGAGACGTGTGGTGATGACGC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780985	T T	TGGGATGT others(98): Show TGGGATGTGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGT GTGGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGAT GACGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01256.hp1 HG01258.hp2 others(23): Show HG01081.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01943.hp2 HG02165.hp1 HG02165.hp2 HG02293.hp2 HG02523.hp2 HG02735.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 HG03834.hp2 NA18943.hp2 NA18947.hp1 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA19005.hp2 NA19066.hp1 NA19070.hp2 NA19080.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0009c0021t0001 a0001c0001t0001 a0001c0001t0002 a0009c0021t0001	a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0068 others(23): Show a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0079 a0001c0001t0002g0123 a0009c0021t0001g0093	26	115	0.2261	105	c.227 others(124): Show c.2276-1221_2276-1220insAGACGTGTGGTGATGACGCCGGGATG TGTGGTGATGACGCCGGGATGTGTGGTGATGACGCCGAGACGTGTGGTGA TGACGCCGAGACGTGTGGTGATGACGCCG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGATGTGT others(98): Show GGATGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01884.hp2 HG02258.hp1 others(5): Show HG01192.hp1 HG01884.hp2 HG02258.hp1 HG02280.hp2 HG02886.hp2 HG02965.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0025 a0001c0004 a0001c0007 a0001c0025	a0001c0004t0001 a0001c0007t0001 a0001c0025t0001 a0001c0004t0001 a0001c0007t0001 a0001c0025t0001	a0001c0004t0001g0120 a0001c0007t0001g0049 a0001c0007t0001g0050 others(5): Show a0001c0004t0001g0120 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0082 a0001c0025t0001g0051	8	81	0.0988	105	c.227 others(124): Show c.2276-1107_2276-1106insTGTGTGGTGATGACGCCGGGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGAGACGTGTGGTGATGACGCCGAGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137781182	G G	GGATGTGT others(98): Show GGATGTGTGGTGATGACGCCGGGACGTGTGGTGATGACGCCGGGACGTGT GGTGATGACGCCGAGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	74	0.0135	105	c.227 others(124): Show c.2276-1107_2276-1106insTGTGTGGTGATGACGCCGGGACGTGT GGTGATGACGCCGGGACGTGTGGTGATGACGCCGAGACGTGTGGTGATGA CGCCGAGACGTGTGGTGATGACGCCGAGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4E_chr4_98874276_98934133	98896224	A A	AAAATAAA others(98): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	273	0.0037	105	c.126 others(122): Show c.126-4893_126-4892insAATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
ELK1_chrX_47630521_47655563	47650159	T T	TCAGAGTG others(98): Show TCAGAGTGGCGGGGAGTGGGGGGGTGGGGTGGGGGGGGGGGGTGGGGGGG TTGGGGGGTAGTGGGGGGGAGCTGGTGGGGGTCTAGTTGGTCGGGGGGGG GGGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	274	0.0036	105	c.-14 others(122): Show c.-140-134_-140-133insCCACCCCCCCCCCCGACCAACTAGACCC CCACCAGCTCCCCCCCACTACCCCCCAACCCCCCCACCCCCCCCCCCCAC CCCACCCCCCCACTCCCCGCCACTCTG	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	1/6			chrX	TogoVar
EML1_chr14_99788413_99947060	99927955	A A	AGGTGGTG others(98): Show AGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0160 a0003c0002t0001g0160	1	216	0.0046	105	c.190 others(124): Show c.1909+7094_1909+7095insGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGA others(98): Show GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0267 a0001c0003t0001g0267	1	145	0.0069	105	c.190 others(124): Show c.1909+7347_1909+7348insAGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENOSF1_chr18_665318_717630	667408	A A	ATGGTGAT others(98): Show ATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGAT GGTGATGGCGATGGAGATGGCGATGGAGATGGCGATGGAGATGGTGGTGG TGGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0045 a0002c0002t0004g0045	1	413	0.0024	105	c.68 others(116): Show c.6896_*6897insCCACCACCACCACCATCTCCATCGCCATCTCCAT CGCCATCTCCATCGCCATCACCATCTCCATCACCATCACCATCACCATCA CCATCTCCATCACCATCACCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2909		chr18	TogoVar
EPPK1_chr8_143852324_143883467	143878395	C C	CCCGCACC others(98): Show CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC CGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCGCACCTGCCCG CACCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 HG03471.hp1 others(1): Show HG02145.hp2 HG03130.hp2 HG03471.hp1 NA19240.hp1	a0022 a0114 a0117 a0022 a0114 a0117	a0022c0041 a0114c0058 a0117c0121 a0022c0041 a0114c0058 a0117c0121	a0022c0041t0002 a0022c0041t0007 a0114c0058t0010 others(1): Show a0022c0041t0002 a0022c0041t0007 a0114c0058t0010 a0117c0121t0002	a0022c0041t0002g0076 a0022c0041t0007g0077 a0114c0058t0010g0074 others(1): Show a0022c0041t0002g0076 a0022c0041t0007g0077 a0114c0058t0010g0074 a0117c0121t0002g0075	4	155	0.0258	105	c.-46 others(118): Show c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGT GCGGCGGGTGCGGGCGGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	220012783	T T	TTGTTTTA others(98): Show TTGTTTTATTTATTGCGGTTTAATTCTGGTAGCACTAAGTGGAGGGGGAA GGACCAGAGGGCCTCCAGATCCCCTTCACATACTTCAACCAGAACAGCTA TGTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(299): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 others(13): Show a0001 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0001c0002 a0001c0004 others(20): Show a0001c0001 a0001c0002 a0001c0004 a0001c0018 a0001c0022 a0001c0025 a0003c0005 a0003c0007 a0003c0008 a0004c0017 a0006c0009 a0008c0011 a0009c0024 a0010c0020 a0011c0014 a0012c0016 a0013c0027 a0014c0026 a0015c0013 a0016c0019 a0017c0023 a0018c0015 a0019c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0004t0001 a0001c0018t0002 a0001c0022t0001 a0001c0025t0002 a0003c0005t0001 a0003c0007t0001 a0003c0008t0001 a0004c0017t0001 a0006c0009t0001 a0008c0011t0001 a0009c0024t0001 a0010c0020t0001 a0011c0014t0001 a0012c0016t0002 a0013c0027t0002 a0014c0026t0002 a0015c0013t0001 a0016c0019t0001 a0017c0023t0002 a0018c0015t0002 a0019c0021t0002	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0028 others(291): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0079 a0001c0001t0001g0186 a0001c0001t0001g0278 a0001c0001t0001g0287 a0001c0001t0001g0311 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0193 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0299 a0001c0001t0003g0322 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0051 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0071 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0125 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0006g0175 a0001c0004t0001g0007 a0001c0004t0001g0034 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0038 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0068 a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0124 a0001c0004t0001g0131 a0001c0004t0001g0190 a0001c0018t0002g0022 a0001c0022t0001g0177 a0001c0025t0002g0121 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0021 a0003c0005t0001g0023 a0003c0005t0001g0024 a0003c0005t0001g0025 a0003c0005t0001g0026 a0003c0005t0001g0027 a0003c0005t0001g0029 a0003c0005t0001g0030 a0003c0005t0001g0031 a0003c0007t0001g0064 a0003c0007t0001g0065 a0003c0007t0001g0077 a0003c0007t0001g0120 a0003c0007t0001g0122 a0003c0007t0001g0123 a0003c0007t0001g0143 a0003c0007t0001g0191 a0003c0007t0001g0305 a0003c0008t0001g0006 a0003c0008t0001g0132 a0003c0008t0001g0133 a0004c0017t0001g0105 a0006c0009t0001g0015 a0006c0009t0001g0019 a0006c0009t0001g0020 a0008c0011t0001g0004 a0009c0024t0001g0179 a0010c0020t0001g0128 a0011c0014t0001g0310 a0012c0016t0002g0234 a0013c0027t0002g0347 a0014c0026t0002g0091 a0015c0013t0001g0159 a0016c0019t0001g0041 a0017c0023t0002g0317 a0018c0015t0002g0238 a0019c0021t0002g0263	302	356	0.8483	105	c.149 others(124): Show c.1495-1728_1495-1727insGAAACATAGCTGTTCTGGTTGAAGTA TGTGAAGGGGATCTGGAGGCCCTCTGGTCCTTCCCCCTCCACTTAGTGCT ACCAGAATTAAACCGCAATAAATAAAACA	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	12/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCCGGCAG others(98): Show CCCGGCAGGGGAGGGGAGGAGCCGGCAGGGAGGGAGGGGAGGAGCCCGGC AGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGG GAGGAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0333 a0001c0006t0011g0333	1	383	0.0026	105	c.558 others(118): Show c.558-77_558-76insAGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAG GAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCA GGGGAGGGGAGGAGCCGGCAGGG	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPS8L2_chr11_701231_732727	720978	G G	GCCCGGCA others(98): Show GCCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCCGGCA GGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAGGGG AGGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	228	0.0044	105	c.557 others(118): Show c.557+71_557+72insCGGCAGGGGAGGGGAGGAGCCCGGCAGGGGAG GGGAGGAGCCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAGC CCGGCAGGGGAGGGGAGGAGCCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(98): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTAAAATAAAAAAAA AAAAAAAGAAAAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	43	0.0233	105	c.83- others(124): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTTGA GGTTTGTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTTTACTCTAA GTTTTAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(98): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03239.hp1 HG01496.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0018 a0001c0001t0008 a0001c0002t0018	a0001c0001t0008g0004 a0001c0002t0018g0010 a0001c0001t0008g0004 a0001c0002t0018g0010	2	44	0.0455	105	c.83- others(124): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTTGA GGTTTGTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTATACTCTAA GTTTTAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018593	A A	ATATATAT others(98): Show ATATATATTATATAATATATATTATATATTATATAATATATATTATATAT TATATAATATATAATATATAATATATATTATATATTATATAATATATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0136 a0003c0004t0001g0136	1	139	0.0072	105	c.534 others(122): Show c.534-2716_534-2715insATATATATTATATATTATATAATATATA TTATATATTATATAATATATAATATATAATATATATTATATATTATATAA TATATAATATATATTATATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ESYT2_chr7_158725997_158834509	158803880	G G	GGAGAAGG others(98): Show GGAGAAGGGTGAGGCGCGCGACAAACCCAAACTGTTGAGAAGGGTGAGGC GCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCAA ACCGTC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18993.hp1 NA18972.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0052 a0002c0002t0002g0057	2	141	0.0142	105	c.331 others(122): Show c.331-4809_331-4808insGACGGTTTGGGTTTGTCGCGCGCCTCAC CCTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCAACAGTTT GGGTTTGTCGCGCGCCTCACCCTTCTC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804001	C C	CGCGACAA others(98): Show CGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCAAA CCTTCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTG AGGCGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 NA20300.hp2 HG02970.hp1 NA18906.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0086 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0086	3	365	0.0082	105	c.331 others(122): Show c.331-4930_331-4929insTCGCCTCACCCTTCTCGACGGTTTGGGT TTGTCGCGCGCCTCACCCTTCTCGAAGGTTTGGGTTTGTCGCGCGCCTCA CCCTTCTCGACGGTTTGGGTTTGTCGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGAGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02486.hp1 others(3): Show HG01074.hp1 HG01243.hp1 HG02486.hp1 HG02886.hp1 HG03453.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0106 a0002c0002t0002g0065 a0002c0002t0002g0069	6	264	0.0227	105	c.331 others(122): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCTCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGAGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp2 others(42): Show HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG01099.hp2 HG01934.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02155.hp2 HG02257.hp2 HG02523.hp1 HG02559.hp1 HG02683.hp1 HG03195.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04228.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp1 NA19090.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0002c0013 a0002c0021 others(1): Show a0002c0002 a0002c0013 a0002c0021 a0007c0026	a0002c0002t0002 a0002c0002t0036 a0002c0002t0039 others(4): Show a0002c0002t0002 a0002c0002t0036 a0002c0002t0039 a0002c0002t0041 a0002c0013t0002 a0002c0021t0002 a0007c0026t0002	a0002c0002t0002g0001 a0002c0002t0002g0030 a0002c0002t0002g0032 others(41): Show a0002c0002t0002g0001 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0105 a0002c0002t0002g0233 a0002c0002t0036g0100 a0002c0002t0039g0104 a0002c0002t0041g0070 a0002c0013t0002g0044 a0002c0013t0002g0087 a0002c0021t0002g0094 a0007c0026t0002g0033	45	303	0.1485	105	c.331 others(122): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGACGGTTTGGGTTTGTCGCTCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGAGTGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02148.hp1 HG02698.hp1 others(13): Show HG01934.hp1 HG02148.hp1 HG02698.hp1 HG02976.hp2 HG03579.hp2 HG03669.hp1 HG04184.hp2 NA18522.hp1 NA18957.hp2 NA18969.hp2 NA18975.hp1 NA18994.hp1 NA18999.hp1 NA19010.hp1 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0019 a0001c0001 a0001c0008 a0001c0019	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0031 a0001c0008t0035 a0001c0019t0033	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 others(13): Show a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0008g0124 a0001c0001t0008g0127 a0001c0001t0009g0114 a0001c0001t0031g0108 a0001c0008t0035g0229 a0001c0019t0033g0226	16	274	0.0584	105	c.331 others(122): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGACGGTTTGGGTTTGTCACTCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	259	0.0039	105	c.331 others(122): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804054	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGTCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	259	0.0039	105	c.331 others(122): Show c.331-4983_331-4982insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGACGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGACGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158804124	T T	TCGAGAAG others(98): Show TCGAGAAGGGTGAGGCGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGG CGCGCGACAAACCCAAACCGCCGAGAAGGGTGAGGCGCGCGACAAACCCA AACCGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18943.hp1 HG01981.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0119 a0002c0002t0002g0029 a0001c0001t0001g0119 a0002c0002t0002g0029	2	223	0.0090	105	c.331 others(122): Show c.331-5053_331-5052insGCGGTTTGGGTTTGTCGCGCGCCTCACC CTTCTCGGCGGTTTGGGTTTGTCGCGCGCCTCACCCTTCTCGGCGGTTTG GGTTTGTCGCGCGCCTCACCCTTCTCG	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	1/22			chr7	TogoVar
ETDB_chrX_135113955_135125526	135119423	A A	ACACAGAC others(98): Show ACACAGACATGACATTACAAGTTGATGAACGACAACCAACCAACACATAA CACATAACCCAAATCACACACATCACCACAATCCTTCACACCACACCCCA CCACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	314	0.0032	105	c.-49 others(120): Show c.-49-114_-49-113insGTGTGGTGGGGTGTGGTGTGAAGGATTGTG GTGATGTGTGTGATTTGGGTTATGTGTTATGTGTTGGTTGGTTGTCGTTC ATCAACTTGTAATGTCATGTCTGTG	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding	2/2			chrX	TogoVar
EVA1C_chr21_32407706_32520387	32477756	G G	GCCCTCAC others(98): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0048 a0001c0003t0001g0048	1	282	0.0035	105	c.634 others(122): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCC GTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EVA1C_chr21_32407706_32520387	32477756	G G	GCCCTCAC others(98): Show GCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCA CCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTAC GCCCTC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0264 a0001c0007t0001g0264	1	282	0.0035	105	c.634 others(122): Show c.634+9913_634+9914insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTC	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(98): Show TCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCC TCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0004 a0034c0031t0004	a0034c0031t0004g0184 a0034c0031t0004g0184	1	31	0.0323	105	c.119 others(122): Show c.119+6912_119+6913insGAGGGAGGAAAGAGGATGGGGAGGGAGG AAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGG TGGGGGAGGGAGGAAAGGGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar

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