Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
DOCK10_chr2_224760090_225047468	225018608	T T	TATATATG others(197): Show TATATATGTAATATTACATATATAATATATATGTAATATTACATATATAT ATAATATATATGTAATATTATATATATAATATATATGTAATATTATATAT ATAATATATATGTAATATTATATATATATAATATATATGTAATATTATAT ATATAATATATATGTAATATTATATATATAATATATATGTAATATTATAT ATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0068 a0002c0009t0003g0068	1	158	0.0063	204	c.123 others(223): Show c.123+23643_123+23644insTATATATATAATATTACATATATATT ATATATATAATATTACATATATATTATATATATAATATTACATATATATT ATATATATATAATATTACATATATATTATATATATAATATTACATATATA TTATATATATAATATTACATATATATTATATATATATGTAATATTACATA TATATTATATATGTAATATTACATATAT	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(197): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATTACT GTTGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0115 a0001c0012t0002g0116 a0001c0012t0002g0115 a0001c0012t0002g0116	2	39	0.0513	204	c.47- others(221): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCACC others(197): Show TCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0201 a0008c0021t0001g0201	1	204	0.0049	204	c.323 others(223): Show c.3234+1128_3234+1129insCCACCTCCACCACCACCAGCATCTTC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCTCCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(197): Show TCACCACCACCTCCACCACCACCACCTCCACCACCAGCACTTCCACCATC ACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATC ACCTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0192 a0002c0005t0001g0192	1	166	0.0060	204	c.323 others(223): Show c.3234+1573_3234+1574insCCACCTCCACCACCACCACCTCCACC ACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGTCAC CACCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCA CCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATCACTACCTCC TCCACCATCACCACCATCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(197): Show GTATATATATATAATATATATATAATATATATAATATGTATTATATATAT AATATGTAATATATATAATATGTATTATAATATATATATAATATATAATA TATAATATATATATAATAAATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATAATATATATATATATAATATATATATATATA ATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0251 a0003c0003t0001g0251	1	275	0.0036	204	c.554 others(221): Show c.5542-333_5542-332insTAATATATATATAATATATATAATATGT ATTATATATATAATATGTAATATATATAATATGTATTATAATATATATAT AATATATAATATATAATATATATATAATAAATATATATAATATATATATA ATATATATATTTAAAAGTATATATATATATAATATATATATATATAATAT ATATATATATAATATATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(197): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATAATATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATAATATATATATAATATATATATAAT ATATATTATATATATAATATATATATAATATATATATAATATATATATTT AAAAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	176	0.0057	204	c.554 others(221): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATAATATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATATAAT ATATATATAATATATATTATATATATAATATATATATAATATATATATAA TATATATATTTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145192	A A	ATATATAT others(197): Show ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATAATATATATAATATATATATAATA TATATAATATATATATAATATATATAATATATATATAATATATATATAAT ATATATTATATATATAATATATATATAATATATATATAATATATATATTT AAAAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	176	0.0057	204	c.554 others(221): Show c.5542-322_5542-321insATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATAATATATATAATA TATATATAATATATATAATATATATATAATATATATAATATATATATAAT ATATATATAATATATATTATATATATAATATATATATAATATATATATAA TATATATATTTAAAAGTATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145204	A A	AATATATA others(197): Show AATATATATATTTAAAAGTATATATATATAATATATATATATAATATATA TAATATGTATATATAATATATATATAATATGTATATATAATATATATATA ATATATATATAATATGTATATATATTATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATAATATATATATTTAAAAGTATA TATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20300.hp2 HG02559.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0279 a0001c0001t0003g0280	2	52	0.0385	204	c.554 others(221): Show c.5542-317_5542-316insTATATATTTAAAAGTATATATATATAAT ATATATATATAATATATATAATATGTATATATAATATATATATAATATGT ATATATAATATATATATAATATATATATAATATGTATATATATTATATAT ATAATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATTTAAAAGTATATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAA others(197): Show ATATATAATATGTATATATAATATATATATAATATGTATATATAATATAT ATATAATATATATAATATATATAATATATATATAATATATATAATATATA TATAATATATATATTATATATATATTATATATATAATATATATATAATAT ATATATAATATATATATAATATATATATTTAAAAGTATATATATATATAT AATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	288	0.0035	204	c.554 others(221): Show c.5542-317_5542-316insTATATAATATGTATATATAATATATATA TAATATGTATATATAATATATATATAATATATATAATATATATAATATAT ATATAATATATATAATATATATATAATATATATATTATATATATATTATA TATATAATATATATATAATATATATATAATATATATATAATATATATATT TAAAAGTATATATATATATATAATAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DOP1A_chr6_83062671_83173471	83145207	A A	ATATATAT others(197): Show ATATATATTTAAAAGTATATATATATAATATATATATAATATATATAATA TGTATATATAATATATATATAATATGTATATATAATATATATATAATATA TATATAATATGTATATATATTATATATATAATATATATATAATATATATA TAATATATATATAATATATATATAATATATATATTTAAAAGTATATATAT ATAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02886.hp1 HG03139.hp2 HG02647.hp1 HG02886.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0234 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0234	3	290	0.0103	204	c.554 others(221): Show c.5542-317_5542-316insTATATATTTAAAAGTATATATATATAAT ATATATATAATATATATAATATGTATATATAATATATATATAATATGTAT ATATAATATATATATAATATATATATAATATGTATATATATTATATATAT AATATATATATAATATATATATAATATATATATAATATATATATAATATA TATATTTAAAAGTATATATATATAAT	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38			chr6	TogoVar
DPEP1_chr16_89608642_89643433	89635202	C C	CCCTTCCT others(197): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0083 a0003c0003t0002g0083	1	241	0.0041	204	c.105 others(219): Show c.105-704_105-703insTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP9_chr19_4670227_4728842	4672030	A A	AATATATA others(197): Show AATATATATATTCATATATTCACATATGTGAATATATATTCATATATTCA CATATGTGAATATATATATTCATATATTCACATATGTGAATATATATATT CATATATTCACATATGTGAATATATATTCATATATTCACATATGTGAATA TATATTCATATATTCACATATGTGAATATATATTCATATATTCACATATG TGAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0305 a0001c0001t0008g0305	1	109	0.0092	204	c.45 others(215): Show c.4533_*4534insATTCACATATGTGAATATATGAATATATATTCAC ATATGTGAATATATGAATATATATTCACATATGTGAATATATGAATATAT ATTCACATATGTGAATATATGAATATATATATTCACATATGTGAATATAT GAATATATATATTCACATATGTGAATATATGAATATATATTCACATATGT GAATATATGAATATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		3196		chr19	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(197): Show ACACACACACATACACGCCACACACACATACACGCCACACACACATACAC GCCACACACACATACACGCCACACACACATACACGCCACACACACATACA CGCCACACACACATACACGCCACACACACATACACGCCACACACACATAC ACGCCACACACACATACACGCCACACACACATACACGCCACACACACATA CACGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG02630.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0048 a0001c0002t0006g0216 a0001c0002t0006g0048 a0001c0002t0006g0216	2	120	0.0167	204	c.201 others(221): Show c.2014+465_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGT GTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATG TGTGTGTGGCGTGTATGTGTGTGTGGCGTGTATGTGTGTGTGGCGTGTAT GTGTGTGTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGGTGAT others(197): Show GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0106 a0001c0004t0003g0106	1	241	0.0041	204	c.190 others(223): Show c.1909+7319_1909+7320insATGGTGGTGATGGTGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(197): Show GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18998.hp2 NA19010.hp1 NA18994.hp2 NA18998.hp2 NA19010.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0158 a0003c0002t0003g0164 a0003c0002t0003g0205 a0003c0002t0003g0158 a0003c0002t0003g0164 a0003c0002t0003g0205	3	147	0.0204	204	c.190 others(223): Show c.1909+7358_1909+7359insATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(197): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG TCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTA TCTGTGCCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTA TCTAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0013 a0007c0012t0013	a0007c0012t0013g0067 a0007c0012t0013g0067	1	42	0.0238	204	c.156 others(223): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAA ATCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTG ATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122642	T T	TATCTGTG others(197): Show TATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTATT GATATATCTGTATATATCTATCTAAATCTCTATCTCTATCTCTATCTGTG CCTATTGATATATCTGTATATATCTATCTCTATCTCTATCTCTATCTCTA TCTCTATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTA TCTAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18949.hp2 HG01081.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0089 a0001c0001t0001 a0001c0001t0089	a0001c0001t0001g0010 a0001c0001t0089g0002 a0001c0001t0001g0010 a0001c0001t0089g0002	2	43	0.0465	204	c.156 others(223): Show c.1569+6613_1569+6614insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTATTGATATATCTGTATATATCTATCTAAATCTCT ATCTCTATCTCTATCTGTGCCTATTGATATATCTGTATATATCTATCTCT ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGCCTATTG ATATATCTGTATATATCTATCTAAATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESYT2_chr7_158725997_158834509	158745155	A A	AGGCAAGC others(197): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG02080.hp1 others(5): Show HG00438.hp2 HG02071.hp2 HG02080.hp1 HG02129.hp2 NA18985.hp2 NA18989.hp2 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 others(5): Show a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0333	8	346	0.0231	204	c.164 others(223): Show c.1645-1478_1645-1477insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGG CCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745223	A A	AGGCAAGC others(197): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCTGGCTGTTCACACACACCT ATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	35	0.0286	204	c.164 others(223): Show c.1645-1546_1645-1545insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGTGTGTGAACAGCCAGG CCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745299	G G	GGCATGAC others(197): Show GGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATG AGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTC ACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTC TCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGC AAGCA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0006 a0002c0010t0006	a0002c0010t0006g0130 a0002c0010t0006g0130	1	322	0.0031	204	c.164 others(223): Show c.1645-1622_1645-1621insTGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
EYS_chr6_63714980_65712226	64686860	T T	TATATATA others(197): Show TATATATATGTGTGTATATATATGTGTATATATATACGTGTATATATATA TACGTGTATATATATATACACACACATATATACGTGTGTATATATGTGTA TATATATACACACACATATATACGTGTATATATATACACACACACATATA TACGTGTATATATATATACACACACATATATACGTGTATATATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG02630.hp2 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0021 a0003c0008 a0003c0021	a0003c0008t0002 a0003c0021t0001 a0003c0008t0002 a0003c0021t0001	a0003c0008t0002g0020 a0003c0021t0001g0008 a0003c0008t0002g0020 a0003c0021t0001g0008	2	16	0.1250	204	c.344 others(225): Show c.3444-60616_3444-60615insGTGTGTGTATATATATATACACGT ATATATGTGTGTGTATATATATATACACGTATATATGTGTGTGTGTATAT ATATACACGTATATATGTGTGTGTATATATATACACATATATACACACGT ATATATGTGTGTGTATATATATATACACGTATATATATATACACGTATAT ATATACACATATATATACACACATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64686860	T T	TATATATA others(197): Show TATATATATGTGTGTATATATATGTGTATATATATACGTGTATATATATA TACGTGTATATATATATACACACACATATATACGTGTGTATATATGTGTA TATATATACACACACATATATACGTGTATATATATATACACACACATATA TACGTGTATATATATATACACACACATATATACGTGTATATATATATACA CACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0001 a0004c0024t0001g0001	1	15	0.0667	204	c.344 others(225): Show c.3444-60616_3444-60615insGTGTGTGTATATATATATACACGT ATATATGTGTGTGTATATATATATACACGTATATATGTGTGTGTATATAT ATATACACGTATATATGTGTGTGTATATATATACACATATATACACACGT ATATATGTGTGTGTATATATATATACACGTATATATATATACACGTATAT ATATACACATATATATACACACATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
FAF2_chr5_176443385_176515074	176451811	C C	CACATATA others(197): Show CACATATATATATACATATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATACACATATATATATACATATATATA TACACATATATATATACATATATATATACACATATATATATACATATATA TATACACATATATATATACATATATATATACACATATATATATACATATA TATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	345	0.0029	204	c.63+ others(219): Show c.63+3344_63+3345insTATATATATACATATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATACACATATA TATATACATATATATATACACATATATATATACATATATATATACACATA TATATATACATATATATATACACATATATATATACATATATATATACACA TATATATATACATATATATATACA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAF2_chr5_176443385_176515074	176451817	T T	TATATATA others(197): Show TATATATACATATATATATACACACATATATATACATATATATATACACA CATATATATACATATATATATACACACATATATATACATATATATATACA CATATATATATACATATATATATACACATATATATATACATATATATATA CACATATATATATACATATATATATACACATATATATATACATATATATA TACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	354	0.0028	204	c.63+ others(219): Show c.63+3354_63+3355insCATATATATATACACACATATATATACATA TATATATACACACATATATATACATATATATATACACACATATATATACA TATATATATACACATATATATATACATATATATATACACATATATATATA CATATATATATACACATATATATATACATATATATATACACATATATATA TACATATATATATACACATATATA	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM111B_chr11_59102237_59132412	59106681	G G	GCCGCCAG others(197): Show GCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGC TCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGG CTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCG GCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGC GGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0003 a0001c0001t0001 a0003c0005t0003	a0001c0001t0001g0009 a0003c0005t0003g0028 a0001c0001t0001g0009 a0003c0005t0003g0028	2	234	0.0085	204	c.-74 others(213): Show c.-747_-746insCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCC GCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCC CGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTC CCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCTCCCGCCAGCGCGCGGCT CCCGCCAGCGCGCGGCTC	FAM111B	ENSG00000189057.11	transcript	ENST00000343597.4	protein_coding		555		chr11	TogoVar
FAM168A_chr11_73395487_73603112	73545002	A A	AATTATAT others(197): Show AATTATATATTATATATAATATATATTATATATATTATATATAATATATT ATATATAATATATTATATATATATTATATATAATATATTATATATAATAT ATTATATATATATTATATATATTATATATAATATATATATAATATATATA TATAATATATTATATATATATATTATATATATAATATATATATAATATAT TATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	161	0.0062	204	c.-19 others(223): Show c.-19+52920_-19+52921insATATAATATATTATATATATATTATA TATATAATATATATATATAATATATTATATATATATATTATATATATATT ATATATAATATATATAATATATATATAATATATTATATATAATATATTAT ATATAATATATATATAATATATTATATATAATATATTATATATAATATAT ATAATATATATTATATATAATATATAAT	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar
FASTKD1_chr2_169523508_169578865	169562132	T T	TTTATTAA others(197): Show TTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTAAT TATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAATTA ATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAAAT TAATTATTTATTAATTTATTGTAAATTAATTATTTATTAATTTATTGTAA ATTAA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0149 a0001c0006t0001g0152 a0001c0006t0001g0149 a0001c0006t0001g0152	2	378	0.0053	204	c.572 others(221): Show c.572+1092_572+1093insTTAATTTACAATAAATTAATAAATAATT AATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAATAA TTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAAAT AATTAATTTACAATAAATTAATAAATAATTAATTTACAATAAATTAATAA ATAATTAATTTACAATAAATTAATAA	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding	4/14			chr2	TogoVar
FBXL16_chr16_687500_710801	707613	C C	CCCACCTC others(197): Show CCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCA GCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCTGC CCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCAC CAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCACCT GCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	169	0.0059	204	c.-21 others(215): Show c.-2117_-2116insAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGG AGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCAC AGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGT GGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTC ACAGCTGGTGACAGAGGTGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1813		chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331769	A A	ATACACCA others(197): Show ATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACCGTGGT GTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAAAAATG TATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCACC GTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTATATATAA AAATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0327 a0004c0004t0006g0327	1	325	0.0031	204	c.-10 others(223): Show c.-10-18610_-10-18609insCACCACCGTGGTGTATATATAAAAAT GTATATATACACCACCGTGGTGTATATATAAAAATGTATATATACACCAC CGTGGTGTATATATAAAAATGTATATATACACCACCGTGGTGTATATATA AAAATGTATATATACACCACCGTGGTGTATATATAAAAATGTATATATAC ACCACCGTGGTGTATATATAAAAATGTA	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(197): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTC TTTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	180	0.0056	204	c.748 others(219): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FLT4_chr5_180596506_180654600	180614180	C C	CTGGGGAG others(197): Show CTGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGT GGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAG GGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTG GTGGA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp2 HG03209.hp1 HG02145.hp2 HG03209.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0008 a0011c0019t0008	a0011c0019t0008g0060 a0011c0019t0008g0061 a0011c0019t0008g0060 a0011c0019t0008g0061	2	382	0.0052	204	c.322 others(217): Show c.3220-2_3220-1insTCCACCACGGGACACGCTTCCCTCCGTCTCCC CATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACA CGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTC CCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGA CAAGCTTCCCTCTGTCTCCCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614200	T T	TTGTCCCG others(197): Show TTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGAT GGGGAGACGGAGGGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAA GCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGCGGTGG ATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0002 a0021 a0002 a0021	a0002c0002 a0021c0042 a0002c0002 a0021c0042	a0002c0002t0003 a0021c0042t0028 a0002c0002t0003 a0021c0042t0028	a0002c0002t0003g0206 a0021c0042t0028g0378 a0002c0002t0003g0206 a0021c0042t0028g0378	2	128	0.0156	204	c.322 others(219): Show c.3220-22_3220-21insCGCTTCCCTCCGTCTCCCCATCCACCGCGG GACAAGCTTCCCTCTGTCTCCCCATCCACCGCGGGACACGCTTCCCTCCG TCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCGC GGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTC CGTCTCCCCATCCACCACGGGACA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614200	T T	TTGTCCCG others(197): Show TTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGAT GGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAA GCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGG ATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(40): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG01070.hp1 HG01123.hp1 HG02027.hp2 HG02132.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18982.hp1 NA18984.hp1 NA18993.hp1 NA18994.hp2 NA19004.hp1 NA19011.hp1 NA19056.hp1 NA19064.hp1 NA19068.hp2 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0002c0008 others(3): Show a0001c0009 a0002c0002 a0002c0008 a0002c0011 a0002c0029 a0002c0038	a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 others(11): Show a0001c0009t0004 a0001c0009t0014 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 a0002c0002t0022 a0002c0008t0004 a0002c0008t0032 a0002c0011t0004 a0002c0011t0014 a0002c0029t0001 a0002c0038t0004	a0001c0009t0004g0014 a0001c0009t0014g0084 a0002c0002t0001g0028 others(39): Show a0001c0009t0004g0014 a0001c0009t0014g0084 a0002c0002t0001g0028 a0002c0002t0001g0032 a0002c0002t0001g0071 a0002c0002t0001g0087 a0002c0002t0001g0121 a0002c0002t0001g0260 a0002c0002t0003g0078 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0004g0015 a0002c0002t0004g0031 a0002c0002t0004g0034 a0002c0002t0004g0057 a0002c0002t0004g0065 a0002c0002t0004g0081 a0002c0002t0004g0095 a0002c0002t0004g0097 a0002c0002t0004g0098 a0002c0002t0004g0101 a0002c0002t0004g0103 a0002c0002t0004g0104 a0002c0002t0004g0189 a0002c0002t0004g0202 a0002c0002t0004g0203 a0002c0002t0004g0268 a0002c0002t0014g0033 a0002c0002t0018g0100 a0002c0002t0018g0164 a0002c0002t0022g0314 a0002c0008t0004g0066 a0002c0008t0004g0295 a0002c0008t0004g0303 a0002c0008t0004g0323 a0002c0008t0032g0304 a0002c0011t0004g0008 a0002c0011t0004g0213 a0002c0011t0014g0167 a0002c0029t0001g0227 a0002c0038t0004g0069	43	169	0.2544	204	c.322 others(219): Show c.3220-22_3220-21insCGCTTCCCTCCGTCTCCCCATCCACCGCGG GACAAGCTTCCCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCG TCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCAC GGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTC CGTCTCCCCATCCACCACGGGACA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180614242	T T	TGGTGGAT others(197): Show TGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGAC GGAGGGAAGCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCC CGTGGTGGATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAG ACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGT CCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0346 a0002c0002t0001g0346	1	148	0.0068	204	c.322 others(219): Show c.3220-64_3220-63insGCGGGACACGCTTCCCTCCGTCTCCCCATC CACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGACAAGCT TCCCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCA TCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACG CTTCCCTCCGTCTCCCCATCCACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635370	A A	ATGGAAGT others(197): Show ATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGAA GTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGG GTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGAT GGGAGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGG GTGGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	384	0.0026	204	c.59- others(219): Show c.59-3593_59-3592insCCCACCCACCCACCCATCCACCCATACTTC CATCCATCCATCCACCCACCCTCCCATCCACCCATACTTCCATCCATCCA TCCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATCCATC CACCCACCCTCCCATCCACCCATACTTCCATCCATCCATCCATCCACCCA CCCACCCATCCACCCATACTTCCA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46134701	G G	GAGGGTGA others(197): Show GAGGGTGAGGGTGAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGAGGGTCA GGTTTAGGGTCAGGGTCAGGGTCAGGGTGAGGGTCAGGTTTAGGGTCAGG GTCAGGTTTAGGGTCAGGTTTAGGGTCAGGGTCAGGGTCAGGGTCAGGTT TAGGGTGAGGGTCAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGAGGGTGA GGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	172	0.0058	204	c.22 others(215): Show c.2285_*2286insGACCCTCACCCTCACCCTCACCCTCACCCTCACC CTCACCCTGACCCTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCT AAACCTGACCCTAAACCTGACCCTGACCCTAAACCTGACCCTCACCCTGA CCCTGACCCTGACCCTAAACCTGACCCTCACCCTCACCCTCACCCTAAAC CTGACCCTCACCCTCACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2077		chr21	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(197): Show TGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGC CCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCC AACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAACTGTGCCCTCCCCTTCCCCC TCCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0177 a0011c0018t0002g0177	1	208	0.0048	204	c.109 others(219): Show c.1098+82_1098+83insGGGGAGGGGGAAGGGGAGGGCACAGTTGTT GGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCG CAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAG GGGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(197): Show CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0128 a0001c0001t0011g0128	1	286	0.0035	204	c.666 others(221): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252998	C C	CCACCACC others(197): Show CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0073 a0001c0001t0006g0073	1	258	0.0039	204	c.666 others(221): Show c.666+1795_666+1796insTCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(197): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATATTATATATAATATATAATATATATAAAATATATATTATATATAATAT ATAAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0252	1	326	0.0031	204	c.628 others(223): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATATTATATATAATATATAATATATAT AAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698074	A A	ATTATATA others(197): Show ATTATATATAATATATAAAATATATAATATATATAATATATAAAATATAT CTTATATATAATATATAATATATATAAAATATATCTTATATATAATATAT AATATATATAAAATATATCTTATATATAATATATAATATATATAAAATAT ATCTTATGTATAATATATAATATATATAAAATATATATTATATATAATAT ATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18990.hp2 NA19072.hp1 HG00673.hp2 NA18990.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0271 a0001c0001t0004g0251 a0001c0001t0004g0281 a0001c0001t0002g0271 a0001c0001t0004g0251 a0001c0001t0004g0281	3	328	0.0091	204	c.628 others(223): Show c.628+21464_628+21465insTTATATATAATATATAAAATATATAA TATATATAATATATAAAATATATCTTATATATAATATATAATATATATAA AATATATCTTATATATAATATATAATATATATAAAATATATCTTATATAT AATATATAATATATATAAAATATATCTTATGTATAATATATAATATATAT AAAATATATATTATATATAATATATAAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GGH_chr8_63010079_63043806	63032908	T T	TCCTCCCT others(197): Show TCCTCCCTGTGCCCTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	424	0.0024	204	c.225 others(221): Show c.225-2692_225-2691insCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTCAACAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAATAAAAGGGCACAGGGAGG	GGH	ENSG00000137563.13	transcript	ENST00000260118.7	protein_coding	2/8			chr8	TogoVar
GLIPR1L2_chr12_75386089_75437688	75433540	T T	TTATATAT others(197): Show TTATATATATATATAATGGATTATATATATATATAATGGATTATATATAT ATATATAATGGATTATATATATATATAATGGATTATATATATATATAATG GATTATATATATATATATATAATGGATTATATATATATATAATGGATTAT ATATATATATATAATGGATTATATATATATATATATATAATGGATTATAT ATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	245	0.0041	204	c.23 others(215): Show c.2379_*2380insTATATATATATATAATGGATTATATATATATATA ATGGATTATATATATATATATAATGGATTATATATATATATAATGGATTA TATATATATATAATGGATTATATATATATATATATAATGGATTATATATA TATATAATGGATTATATATATATATATAATGGATTATATATATATATATA TATAATGGATTATATATATA	GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding		853		chr12	TogoVar
GLT6D1_chr9_135618648_135644540	135620041	C C	CCCCTTCT others(197): Show CCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAG TCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCC TTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTTTTCCCCCTACTC CCCCGTCTCCCCCATCTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCT TCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0004 a0003c0002t0004	a0003c0002t0004g0171 a0003c0002t0004g0171	1	433	0.0023	204	c.40 others(215): Show c.4055_*4056insTGAGAAGGGGGAGATGGGGGAGACGGGAGAGACG GGGGAGATGGGGGAGACGGGGGAGTAGGGGGAAAAGGGGGAGAAGGGGGA GTAGAGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGG AGTAGGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGACGGGGGAGAAG GGGGAGTAGGGGGAGAAGGG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3606		chr9	TogoVar
GMEB2_chr20_63582605_63632101	63607494	C C	CCCCTCTG others(197): Show CCCCTCTGATCCACCTCCATTTCTAGAAACATGCCACTCTGACCCACACC TCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAACA TGCCCCTCTGACCCACCTCCATTTCCAGAAACATGCCCCTCTGACCCACC TCCATTTCTAGAAACATGTCCCTCTGACCCCACACATCCATTTCTAGAAA CATGT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0122 a0001c0003t0002g0122	1	312	0.0032	204	c.132 others(221): Show c.132-2655_132-2654insACATGTTTCTAGAAATGGATGTGTGGGG TCAGAGGGACATGTTTCTAGAAATGGAGGTGGGTCAGAGGGGCATGTTTC TGGAAATGGAGGTGGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGG TCAGAGGGACATGTTTCTAGAAATGGAGGTGTGGGTCAGAGTGGCATGTT TCTAGAAATGGAGGTGGATCAGAGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608192	C C	CTCCATTT others(197): Show CTCCATTTCTAGAAACATGTCCCTCTGACCCCACATCCATTTCTAGAAAC ATGCCCCTCTGACCTCACCTCCATTTCTAGAAACATGCCCCTGTGACCCC ACATCCATTTCTAGAAACATGTCCCTCTGACCCCACCTCCATTTCTAGAA ACATGCCCCTCTGACCCCACCTCCATTTCTAGAAACATGCCCCTCTGACC CCACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	241	0.0041	204	c.132 others(221): Show c.132-3353_132-3352insTGTGGGGTCAGAGGGGCATGTTTCTAGA AATGGAGGTGGGGTCAGAGGGGCATGTTTCTAGAAATGGAGGTGGGGTCA GAGGGACATGTTTCTAGAAATGGATGTGGGGTCACAGGGGCATGTTTCTA GAAATGGAGGTGAGGTCAGAGGGGCATGTTTCTAGAAATGGATGTGGGGT CAGAGGGACATGTTTCTAGAAATGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GNAT3_chr7_80453635_80517064	80497671	C C	CATATACG others(197): Show CATATACGTATATACATATACGTATATACATATACGTATATACATATACG TATATACATATACGTATATACATATACGTATATACATATACGTATATACA TATACGTATATACATATACGTATATACACATATACGTATATACATATACG TATATACACATATACGTATATACATATACGTATATACACATATACGTATA TGTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	309	0.0032	204	c.119 others(221): Show c.119-3025_119-3024insATACATATACGTATATGTGTATATACGT ATATGTATATACGTATATGTGTATATACGTATATGTATATACGTATATGT GTATATACGTATATGTATATACGTATATGTATATACGTATATGTATATAC GTATATGTATATACGTATATGTATATACGTATATGTATATACGTATATGT ATATACGTATATGTATATACGTATAT	GNAT3	ENSG00000214415.4	transcript	ENST00000398291.4	protein_coding	1/7			chr7	TogoVar
GPHN_chr14_66503147_67186803	66683357	T T	CATATATA others(197): Show CATATATATGTTCATATATATATGTTCATATATATGTATGTTCATATATA TATGTACATATATATGTTCATATATGTATGTTCATATATATATGTACATA TATATGTTCATATATATATGTTCATATATATATGTACATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATATG TTCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02886.hp1 HG03486.hp2 others(1): Show HG00639.hp2 HG02886.hp1 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0009g0139	4	226	0.0177	204	c.143 others(221): Show c.143+2171_143+2172insCATATATATGTTCATATATATATGTTCA TATATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTA TGTTCATATATATATGTACATATATATGTTCATATATATATGTTCATATA TATATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATATGTTCA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPR35_chr2_240620480_240638159	240626003	T T	TGGGGGTC others(197): Show TGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCG AGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGA GCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGG GTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCT CTGAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	253	0.0040	204	c.-5+ others(217): Show c.-5+439_-5+440insGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTC TCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTG ACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCG AGGCTGTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGGGTCTCAGA GCGGGGTGAGGCTCTGACGGGG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRAMD1B_chr11_123425269_123632767	123457126	A A	AAAGAAAG others(197): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG GAAGG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0052 a0001c0002t0052	a0001c0002t0052g0135 a0001c0002t0052g0135	1	274	0.0036	204	c.375 others(223): Show c.375-23677_375-23676insAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAGGAAGAAAGAAAGAA	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar

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