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
EYS_chr6_63714980_65712226	63727737	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02622.hp1 HG02809.hp2 HG01169.hp2 HG02622.hp1 HG02809.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0019 a0007c0006 a0009c0013 a0001c0019 a0007c0006 a0009c0013	a0001c0019t0001 a0007c0006t0001 a0009c0013t0001 a0001c0019t0001 a0007c0006t0001 a0009c0013t0001	a0001c0019t0001g0006 a0007c0006t0001g0004 a0009c0013t0001g0017 a0001c0019t0001g0006 a0007c0006t0001g0004 a0009c0013t0001g0017	3	24	0.1250	18	c.807 others(37): Show c.8072-1058_8072-1057insATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	41/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64033828	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0002 a0020c0020t0002	a0020c0020t0002g0022 a0020c0020t0002g0022	1	24	0.0417	18	c.672 others(39): Show c.6725+32509_6725+32510insTATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	33/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0015 a0011c0010t0001g0015	1	24	0.0417	18	c.642 others(37): Show c.6425-3356_6425-3339dupTGTGTGTGTGTGTGTGTG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64085340	G G	GCGCGCAC others(11): Show GCGCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0011 a0016c0022t0001g0011	1	24	0.0417	18	c.642 others(37): Show c.6425-3339_6425-3338insTGTGTGTGTGTGTGCGCG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64169431	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0012 a0002c0009t0001g0012	1	24	0.0417	18	c.642 others(39): Show c.6424+61160_6424+61161insAAAAAAAAAAAAAAAAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	31/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64249063	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	24	0.0417	18	c.619 others(39): Show c.6192-18257_6192-18240dupTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64506908	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG02622.hp1 HG02809.hp2	a0007 a0009 a0007 a0009	a0007c0006 a0009c0013 a0007c0006 a0009c0013	a0007c0006t0001 a0009c0013t0001 a0007c0006t0001 a0009c0013t0001	a0007c0006t0001g0004 a0009c0013t0001g0017 a0007c0006t0001g0004 a0009c0013t0001g0017	2	24	0.0833	18	c.564 others(39): Show c.5645-67557_5645-67556insTTTTTTTTTTTTTTTTTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	26/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64600258	T T	TATTATTT others(11): Show TATTATTTAAGTGTTAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02451.hp2 others(15): Show HG01169.hp1 HG01169.hp2 HG02451.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021	a0001c0002 a0001c0019 a0002c0009 others(15): Show a0001c0002 a0001c0019 a0002c0009 a0002c0012 a0003c0008 a0003c0021 a0004c0024 a0006c0017 a0008c0001 a0012c0016 a0014c0003 a0015c0004 a0016c0022 a0017c0014 a0018c0018 a0019c0023 a0020c0020 a0021c0007	a0001c0002t0002 a0001c0019t0001 a0002c0009t0001 others(15): Show a0001c0002t0002 a0001c0019t0001 a0002c0009t0001 a0002c0012t0002 a0003c0008t0002 a0003c0021t0001 a0004c0024t0001 a0006c0017t0001 a0008c0001t0001 a0012c0016t0001 a0014c0003t0001 a0015c0004t0002 a0016c0022t0001 a0017c0014t0001 a0018c0018t0001 a0019c0023t0001 a0020c0020t0002 a0021c0007t0001	a0001c0002t0002g0019 a0001c0019t0001g0006 a0002c0009t0001g0012 others(15): Show a0001c0002t0002g0019 a0001c0019t0001g0006 a0002c0009t0001g0012 a0002c0012t0002g0021 a0003c0008t0002g0020 a0003c0021t0001g0008 a0004c0024t0001g0001 a0006c0017t0001g0002 a0008c0001t0001g0013 a0012c0016t0001g0003 a0014c0003t0001g0016 a0015c0004t0002g0024 a0016c0022t0001g0011 a0017c0014t0001g0005 a0018c0018t0001g0007 a0019c0023t0001g0010 a0020c0020t0002g0022 a0021c0007t0001g0009	18	24	0.7500	18	c.368 others(37): Show c.3685-6950_3685-6949insTTTTAACACTTAAATAAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	24/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64600258	T T	TATTATTT others(11): Show TATTATTTAAGTGTTAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02809.hp2 others(2): Show HG02451.hp1 HG02622.hp1 HG02809.hp2 HG02886.hp1 HG02965.hp1	a0005 a0007 a0009 others(2): Show a0005 a0007 a0009 a0010 a0013	a0005c0011 a0007c0006 a0009c0013 others(2): Show a0005c0011 a0007c0006 a0009c0013 a0010c0015 a0013c0005	a0005c0011t0002 a0007c0006t0001 a0009c0013t0001 others(2): Show a0005c0011t0002 a0007c0006t0001 a0009c0013t0001 a0010c0015t0002 a0013c0005t0001	a0005c0011t0002g0018 a0007c0006t0001g0004 a0009c0013t0001g0017 others(2): Show a0005c0011t0002g0018 a0007c0006t0001g0004 a0009c0013t0001g0017 a0010c0015t0002g0023 a0013c0005t0001g0014	5	24	0.2083	18	c.368 others(37): Show c.3685-6950_3685-6949insTTCTAACACTTAAATAAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	24/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64766649	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0012 a0002c0009t0001g0012	1	24	0.0417	18	c.344 others(39): Show c.3443+46728_3443+46729insATATATATATATATATTT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	22/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64989394	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG02965.hp2 HG02630.hp2 HG02896.hp1 HG02965.hp2	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0002 a0003c0021 a0011c0010 a0001c0002 a0003c0021 a0011c0010	a0001c0002t0002 a0003c0021t0001 a0011c0010t0001 a0001c0002t0002 a0003c0021t0001 a0011c0010t0001	a0001c0002t0002g0019 a0003c0021t0001g0008 a0011c0010t0001g0015 a0001c0002t0002g0019 a0003c0021t0001g0008 a0011c0010t0001g0015	3	24	0.1250	18	c.225 others(37): Show c.2259+8170_2259+8187dupATATATATATATATATAT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	14/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65271128	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG03195.hp1 HG01169.hp1 HG03195.hp1	a0004 a0018 a0004 a0018	a0004c0024 a0018c0018 a0004c0024 a0018c0018	a0004c0024t0001 a0018c0018t0001 a0004c0024t0001 a0018c0018t0001	a0004c0024t0001g0001 a0018c0018t0001g0007 a0004c0024t0001g0001 a0018c0018t0001g0007	2	24	0.0833	18	c.202 others(39): Show c.2023+24717_2023+24734dupTATATATATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65519708	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0017 a0009c0013t0001g0017	1	24	0.0417	18	c.-33 others(39): Show c.-332-23716_-332-23715insAAAAAAAATATATATATA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65556387	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 HG02965.hp1 HG03098.hp2	a0013 a0017 a0013 a0017	a0013c0005 a0017c0014 a0013c0005 a0017c0014	a0013c0005t0001 a0017c0014t0001 a0013c0005t0001 a0017c0014t0001	a0013c0005t0001g0014 a0017c0014t0001g0005 a0013c0005t0001g0014 a0017c0014t0001g0005	2	24	0.0833	18	c.-33 others(39): Show c.-332-60412_-332-60395dupCACACACACACACACACA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	2/42			chr6	TogoVar
EZH2_chr7_148802383_148889291	148802808	G G	GGACTGAA others(11): Show GGACTGAATCACGCTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	380	0.0026	18	c.48 others(29): Show c.4837_*4838insGCAAAGCGTGATTCAGTC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding		4574		chr7	TogoVar
EZH2_chr7_148802383_148889291	148866519	T T	TGTATATA others(11): Show TGTATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01074.hp2 others(34): Show HG00140.hp1 HG00639.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02886.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG04184.hp2 NA18954.hp2 NA18965.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18999.hp1 NA19007.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0010t0003 a0001c0001t0001 a0001c0001t0002 a0001c0010t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0175 a0001c0001t0001g0374 a0001c0001t0001g0375 a0001c0001t0002g0201 a0001c0010t0003g0003	37	380	0.0974	18	c.-8+ others(35): Show c.-8+17627_-8+17644dupGTATATATATGTATATAC	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
EZH2_chr7_148802383_148889291	148866528	A A	ATATATAT others(11): Show ATATATATACGTATATACG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG01169.hp2 others(2): Show HG00280.hp2 HG01167.hp2 HG01169.hp2 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166	5	380	0.0132	18	c.-8+ others(35): Show c.-8+17635_-8+17636insCGTATATACGTATATATA	EZH2	ENSG00000106462.12	transcript	ENST00000320356.7	protein_coding	1/19			chr7	TogoVar
EZHIP_chrX_51401948_51413843	51409476	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02630.hp2 HG01884.hp1 HG02486.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	295	0.0102	18	c.94 others(27): Show c.948_*949insGTGTGTGTGTGTGTGTGT	EZHIP	ENSG00000187690.4	transcript	ENST00000342995.4	protein_coding		634		chrX	TogoVar
EZR_chr6_158760748_158824368	158765187	G G	GGGGCGGG others(11): Show GGGGCGGGGGGCGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0279 a0001c0001t0004g0279	1	312	0.0032	18	c.17 others(29): Show c.1726_*1727insGCCCCCCGCCCCCCGCCC	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding		560		chr6	TogoVar
EZR_chr6_158760748_158824368	158803606	C C	CATATACA others(11): Show CATATACATACATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	312	0.0032	18	c.13- others(35): Show c.13-14236_13-14235insATATATATGTATGTATAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F10_chr13_113117799_113154529	113148343	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18990.hp1 NA19068.hp1 HG02155.hp1 NA18990.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0261 a0001c0002t0001g0340 a0001c0002t0001g0070 a0001c0002t0001g0261 a0001c0002t0001g0340	3	412	0.0073	18	c.866 others(33): Show c.866-572_866-571insTATATATATATATATATA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113148345	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp1 NA18942.hp2 others(5): Show HG00558.hp1 HG02080.hp1 NA18942.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp1 NA19060.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0065 others(5): Show a0001c0002t0001g0046 a0001c0002t0001g0055 a0001c0002t0001g0065 a0001c0002t0001g0153 a0001c0002t0001g0244 a0001c0002t0001g0305 a0001c0002t0001g0313 a0001c0002t0001g0357	8	412	0.0194	18	c.866 others(33): Show c.866-570_866-553dupATATATATATATATATAT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F10_chr13_113117799_113154529	113154372	C C	CGGGGCGC others(11): Show CGGGGCGCGGGGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	412	0.0024	18	c.48 others(29): Show c.4855_*4856insGGGGCGCGGGGGGAGGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4844		chr13	TogoVar
F10_chr13_113117799_113154529	113154379	C C	CGGGGGAG others(11): Show CGGGGGAGGCGGGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	412	0.0024	18	c.48 others(29): Show c.4862_*4863insGGGGGAGGCGGGGGCGCG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		4851		chr13	TogoVar
F13A1_chr6_6139084_6325662	6161524	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01261.hp2 HG01358.hp2 HG01081.hp1 HG01261.hp2 HG01358.hp2	a0003 a0004 a0009 a0003 a0004 a0009	a0003c0003 a0004c0004 a0009c0008 a0003c0003 a0004c0004 a0009c0008	a0003c0003t0005 a0004c0004t0003 a0009c0008t0003 a0003c0003t0005 a0004c0004t0003 a0009c0008t0003	a0003c0003t0005g0055 a0004c0004t0003g0004 a0009c0008t0003g0177 a0003c0003t0005g0055 a0004c0004t0003g0004 a0009c0008t0003g0177	3	292	0.0103	18	c.190 others(37): Show c.1908+5916_1908+5933dupCACACACACACACACACA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	13/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6161551	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03139.hp2 HG02630.hp2 HG03139.hp2	a0001 a0006 a0001 a0006	a0001c0006 a0006c0014 a0001c0006 a0006c0014	a0001c0006t0002 a0006c0014t0002 a0001c0006t0002 a0006c0014t0002	a0001c0006t0002g0253 a0006c0014t0002g0070 a0001c0006t0002g0253 a0006c0014t0002g0070	2	292	0.0069	18	c.190 others(37): Show c.1908+5906_1908+5907insTCTCACACACACACACAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	13/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6210324	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02040.hp2 HG02109.hp1 others(6): Show HG01361.hp1 HG02040.hp2 HG02109.hp1 HG02258.hp1 HG02647.hp1 HG03130.hp1 HG03831.hp2 NA18747.hp1 NA19009.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0003 a0007c0022	a0001c0001t0001 a0001c0006t0002 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0006t0002 a0002c0002t0001 a0002c0002t0004 a0003c0003t0002 a0007c0022t0002	a0001c0001t0001g0098 a0001c0001t0001g0179 a0001c0001t0001g0198 others(6): Show a0001c0001t0001g0098 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0006t0002g0005 a0002c0002t0001g0164 a0002c0002t0004g0152 a0002c0002t0004g0277 a0003c0003t0002g0207 a0007c0022t0002g0127	9	292	0.0308	18	c.111 others(39): Show c.1112+11691_1112+11708dupATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	8/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6238715	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG02922.hp2 HG01433.hp2 HG02300.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0084 a0001c0001t0001g0218 a0001c0001t0002g0066 a0001c0001t0001g0084 a0001c0001t0001g0218 a0001c0001t0002g0066	3	292	0.0103	18	c.798 others(35): Show c.798+9579_798+9596dupATATATATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	6/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6313280	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	292	0.0034	18	c.130 others(35): Show c.130+5237_130+5254dupAAAAAAAAAAAAAAAAAA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
F2RL3_chr19_16883999_16897606	16894921	A A	AACACACA others(11): Show AACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02559.hp1 HG00609.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0002 a0002c0002t0005g0003 a0002c0002t0004g0002 a0002c0002t0005g0003	2	400	0.0050	18	c.43 others(29): Show c.4300_*4301insACACACACACACACACAC	F2RL3	ENSG00000127533.4	transcript	ENST00000248076.4	protein_coding		2316		chr19	TogoVar
F5_chr1_169506951_169591481	169556425	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0029 a0029	a0029c0057 a0029c0057	a0029c0057t0002 a0029c0057t0002	a0029c0057t0002g0298 a0029c0057t0002g0298	1	306	0.0033	18	c.952 others(33): Show c.952+220_952+221insTTTTTTTTTTTTTTTTTT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	6/24			chr1	TogoVar
F5_chr1_169506951_169591481	169577560	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01993.hp2 others(5): Show HG00735.hp1 HG01081.hp2 HG01993.hp2 HG02071.hp1 HG02738.hp2 NA18948.hp1 NA18951.hp2 NA19009.hp1	a0001 a0005 a0008 others(2): Show a0001 a0005 a0008 a0022 a0025	a0001c0002 a0001c0004 a0005c0008 others(3): Show a0001c0002 a0001c0004 a0005c0008 a0008c0042 a0022c0066 a0025c0081	a0001c0002t0002 a0001c0004t0002 a0005c0008t0001 others(3): Show a0001c0002t0002 a0001c0004t0002 a0005c0008t0001 a0008c0042t0001 a0022c0066t0003 a0025c0081t0001	a0001c0002t0002g0169 a0001c0004t0002g0230 a0005c0008t0001g0165 others(5): Show a0001c0002t0002g0169 a0001c0004t0002g0230 a0005c0008t0001g0165 a0005c0008t0001g0166 a0005c0008t0001g0168 a0008c0042t0001g0164 a0022c0066t0003g0270 a0025c0081t0001g0167	8	306	0.0261	18	c.250 others(35): Show c.250+4853_250+4870dupATATATATATATATATAT	F5	ENSG00000198734.12	transcript	ENST00000367797.9	protein_coding	2/24			chr1	TogoVar
F7_chr13_113100791_113125685	113105038	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0078 a0002c0002t0003g0078	1	400	0.0025	18	c.-80 others(27): Show c.-804_-803insATATATATATATATATAT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding		752		chr13	TogoVar
F7_chr13_113100791_113125685	113107513	G G	GTGTGGGT others(11): Show GTGTGGGTGTCCCAGGGGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	400	0.0025	18	c.64+ others(33): Show c.64+1608_64+1609insTGTGGGTGTCCCAGGGGT	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7			chr13	TogoVar
F7_chr13_113100791_113125685	113107769	T T	TGTGGGGT others(11): Show TGTGGGGTGTCCCGGGGGA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	400	0.0025	18	c.64+ others(33): Show c.64+1869_64+1870insGTGTCCCGGGGGAGTGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107771	T T	TGGGTGTC others(11): Show TGGGTGTCCCGGGGGAGTG	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19068.hp1 NA19054.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0101 a0002c0002t0003g0240 a0001c0001t0001g0101 a0002c0002t0003g0240	2	400	0.0050	18	c.64+ others(33): Show c.64+1878_64+1879insGGAGTGGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107776	G G	GTCCCGGG others(11): Show GTCCCGGGGGAGTGGGTGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	400	0.0025	18	c.64+ others(33): Show c.64+1878_64+1879insGGAGTGGGTGTTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113107955	G G	GCGTGGGT others(11): Show GCGTGGGTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02723.hp2 HG03209.hp1 HG02630.hp1 HG02723.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0016 a0001c0003t0010 a0001c0001t0016 a0001c0003t0010	a0001c0001t0016g0242 a0001c0003t0010g0050 a0001c0001t0016g0242 a0001c0003t0010g0050	3	400	0.0075	18	c.64+ others(33): Show c.64+2065_64+2066insGGTCGTGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108041	T T	TGTGGGGT others(11): Show TGTGGGGTGTCCCGGGGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	400	0.0025	18	c.64+ others(33): Show c.64+2141_64+2142insGTGTCCCGGGGGCGTGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108057	G G	GCGTGGGT others(11): Show GCGTGGGTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(262): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007 a0003c0008 a0004c0005 a0005c0006 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0003t0010 a0001c0003t0014 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0021 a0002c0007t0011 a0003c0008t0002 a0004c0005t0001 a0005c0006t0001 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0004g0026 a0001c0001t0004g0136 a0001c0001t0004g0172 a0001c0001t0005g0149 a0001c0001t0006g0034 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0007g0006 a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0013g0037 a0001c0001t0016g0242 a0001c0001t0018g0192 a0001c0001t0020g0011 a0001c0001t0022g0007 a0001c0001t0024g0023 a0001c0001t0025g0165 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0010g0050 a0001c0003t0014g0090 a0001c0003t0014g0112 a0001c0004t0001g0003 a0002c0002t0001g0062 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0072 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0134 a0002c0002t0003g0144 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0008g0030 a0002c0002t0008g0069 a0002c0002t0009g0027 a0002c0002t0011g0164 a0002c0002t0021g0061 a0002c0007t0011g0077 a0003c0008t0002g0170 a0004c0005t0001g0140 a0005c0006t0001g0002 a0006c0011t0001g0105	265	400	0.6625	18	c.64+ others(33): Show c.64+2167_64+2168insGGTCGTGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108069	C C	CGGGGGTC others(11): Show CGGGGGTCGTGGGTGTCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	400	0.0025	18	c.64+ others(33): Show c.64+2167_64+2168insGGTCGTGGGTGTCCTGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113108159	G G	GCGTGGGT others(11): Show GCGTGGGTGTCCCGGGGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(268): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0007 a0003c0008 a0004c0005 a0005c0006 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0003t0001 a0001c0003t0014 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0021 a0002c0007t0011 a0003c0008t0002 a0004c0005t0001 a0005c0006t0001 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(172): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0041 a0001c0001t0002g0048 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0004g0026 a0001c0001t0004g0136 a0001c0001t0004g0172 a0001c0001t0005g0014 a0001c0001t0005g0082 a0001c0001t0005g0149 a0001c0001t0006g0034 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0007g0006 a0001c0001t0012g0079 a0001c0001t0012g0080 a0001c0001t0013g0037 a0001c0001t0018g0192 a0001c0001t0020g0011 a0001c0001t0022g0007 a0001c0001t0024g0023 a0001c0001t0025g0165 a0001c0003t0001g0060 a0001c0003t0001g0070 a0001c0003t0014g0090 a0001c0003t0014g0112 a0001c0004t0001g0003 a0002c0002t0001g0062 a0002c0002t0003g0028 a0002c0002t0003g0029 a0002c0002t0003g0030 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0081 a0002c0002t0003g0084 a0002c0002t0003g0134 a0002c0002t0003g0144 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0008g0030 a0002c0002t0008g0069 a0002c0002t0009g0027 a0002c0002t0011g0164 a0002c0002t0021g0061 a0002c0007t0011g0077 a0003c0008t0002g0170 a0004c0005t0001g0140 a0005c0006t0001g0002 a0006c0011t0001g0105	271	400	0.6775	18	c.64+ others(33): Show c.64+2269_64+2270insGGTCGTGGGTGTCCCGGG	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F7_chr13_113100791_113125685	113112848	T T	TACTCTCA others(11): Show TACTCTCACAGGACACCTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01071.hp1 others(12): Show HG00597.hp1 HG01069.hp1 HG01071.hp1 HG01496.hp2 HG01891.hp1 HG02109.hp1 HG02622.hp2 HG02809.hp2 HG03225.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0015 a0001c0001t0001 a0002c0010t0015	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0083 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0083 a0001c0001t0001g0137 a0001c0001t0001g0196 a0001c0001t0001g0243 a0001c0001t0001g0244 a0002c0010t0015g0097	15	400	0.0375	18	c.226 others(33): Show c.226-901_226-884dupTCTCACAGGACACCTCAC	F7	ENSG00000057593.14	transcript	ENST00000346342.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
F8A2_chrX_155377095_155388801	155384120	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00609.hp1 others(36): Show HG00280.hp1 HG00323.hp2 HG00609.hp1 HG00621.hp1 HG00735.hp2 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp1 HG02165.hp1 HG02273.hp1 HG02559.hp1 HG02683.hp2 HG02723.hp2 HG03688.hp1 HG04199.hp1 NA18941.hp2 NA18945.hp1 NA18955.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18985.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19080.hp1 NA20300.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0007 a0008c0009 a0001c0001 a0007c0007 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0007c0007t0002 a0008c0009t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0007c0007t0002g0000 others(1): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0007c0007t0002g0000 a0008c0009t0002g0000	39	267	0.1461	18	c.89 others(27): Show c.890_*891insTTTTTTTTTTTTTTTTTT	F8A2	ENSG00000288709.1	transcript	ENST00000369505.5	protein_coding		320		chrX	TogoVar
F8A3_chrX_155451914_155463620	155456569	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 NA18980.hp1 NA19072.hp1 HG00639.hp2 NA18980.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	270	0.0111	18	c.91 others(27): Show c.915_*916insTTTTTTTTTTTTTTTTTT	F8A3	ENSG00000277150.2	transcript	ENST00000622749.2	protein_coding		344		chrX	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0368 a0001c0005t0012g0368	1	388	0.0026	18	c.271 others(35): Show c.271-1694_271-1693insCATATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(11): Show ATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19082.hp1 HG00642.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0156 a0001c0002t0001g0146 a0001c0001t0002g0156 a0001c0002t0001g0146	2	388	0.0052	18	c.271 others(35): Show c.271-1694_271-1693insCACATATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG02055.hp2 others(2): Show HG00323.hp1 HG00735.hp2 HG02055.hp2 HG02647.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0030 a0001c0003t0005 a0001c0004t0004 others(2): Show a0001c0001t0030 a0001c0003t0005 a0001c0004t0004 a0001c0005t0001 a0001c0006t0002	a0001c0001t0030g0157 a0001c0003t0005g0369 a0001c0004t0004g0279 others(2): Show a0001c0001t0030g0157 a0001c0003t0005g0369 a0001c0004t0004g0279 a0001c0005t0001g0365 a0001c0006t0002g0349	5	388	0.0129	18	c.271 others(35): Show c.271-1694_271-1693insCACACATATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74741808	A A	ATATATAT others(11): Show ATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 HG01884.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0005 a0001c0001t0001 a0001c0003t0005	a0001c0001t0001g0207 a0001c0003t0005g0367 a0001c0001t0001g0207 a0001c0003t0005g0367	2	388	0.0052	18	c.271 others(35): Show c.271-1694_271-1693insCACACACATATATATATA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar
FA2H_chr16_74707969_74779820	74750761	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(48): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG01255.hp1 HG01361.hp2 HG01516.hp1 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02258.hp1 HG02293.hp2 HG02451.hp2 HG02622.hp1 HG02738.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18960.hp2 NA18965.hp2 NA18972.hp2 NA18975.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0018 a0002c0009 a0004c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0026 a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0006t0002 a0001c0007t0001 a0001c0018t0003 a0002c0009t0012 a0004c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0030 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0227 a0001c0001t0001g0262 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0092 a0001c0001t0002g0216 a0001c0001t0003g0044 a0001c0001t0003g0064 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0006g0289 a0001c0001t0007g0226 a0001c0001t0014g0033 a0001c0001t0026g0039 a0001c0002t0001g0028 a0001c0002t0001g0053 a0001c0002t0003g0304 a0001c0002t0015g0198 a0001c0003t0002g0334 a0001c0003t0003g0350 a0001c0003t0003g0351 a0001c0004t0001g0057 a0001c0004t0004g0301 a0001c0004t0007g0050 a0001c0006t0002g0337 a0001c0007t0001g0038 a0001c0018t0003g0336 a0002c0009t0012g0088 a0004c0015t0001g0302	51	388	0.1314	18	c.271 others(37): Show c.271-10664_271-10647dupCACACACACACACACACA	FA2H	ENSG00000103089.9	transcript	ENST00000219368.8	protein_coding	1/6			chr16	TogoVar

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