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
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(19): Show GACACAGACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02055.hp2 HG03041.hp2 HG01169.hp1 HG02055.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0125 a0001c0001t0001g0201 a0001c0001t0022g0206 a0001c0001t0001g0125 a0001c0001t0001g0201 a0001c0001t0022g0206	3	206	0.0146	26	c.386 others(43): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(19): Show CACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG06807.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0108 a0001c0001t0002g0021 a0001c0001t0001g0108 a0001c0001t0002g0021	2	206	0.0097	26	c.386 others(43): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849773	A A	ACACACAC others(19): Show ACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0156 a0001c0001t0017g0156	1	206	0.0049	26	c.386 others(43): Show c.386-8907_386-8906insGGTGTGTGTGTGTGTGTGTGTGTGTG	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	206	0.0049	26	c.189 others(43): Show c.189-2889_189-2888insGTGTATATATATATATATATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02280.hp1 HG03041.hp2 others(3): Show HG01109.hp2 HG02280.hp1 HG03041.hp2 NA18906.hp2 NA19074.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0106 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0173 a0001c0001t0001g0201 a0001c0001t0002g0035	6	206	0.0291	26	c.189 others(43): Show c.189-2889_189-2888insGTATATATATATATATATATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTGT others(19): Show ATTTTTGTTTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp1 HG02615.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0122 a0001c0001t0001g0132	2	358	0.0056	26	c.718 others(43): Show c.718-1099_718-1098insGTTTTTTTGTTTTTGTTTTTGTTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTGT others(19): Show ATTTTTGTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02630.hp2 HG02895.hp1 others(2): Show HG02258.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0031 a0001c0001t0001g0135 a0001c0001t0001g0139	5	358	0.0140	26	c.718 others(43): Show c.718-1099_718-1098insGTTTTTTTTTTTTTGTTTTTGTTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502750	A A	ATTTTTTT others(19): Show ATTTTTTTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp2 HG01071.hp2 others(3): Show HG00140.hp2 HG01069.hp2 HG01071.hp2 HG01433.hp2 HG02071.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0030 a0001c0001t0005g0128 a0001c0001t0005g0130 others(1): Show a0001c0001t0005g0030 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0011g0131	6	358	0.0168	26	c.718 others(43): Show c.718-1094_718-1093insGTTTTGTTTTGTTTTGTTTTTTTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502753	T T	TTTGTTTT others(19): Show TTTGTTTTGTTTTGTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02970.hp1 HG02976.hp2 HG01081.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0141 a0001c0001t0002g0034 a0001c0001t0002g0141	3	358	0.0084	26	c.718 others(43): Show c.718-1099_718-1098insGTTTTGTTTTGTTTTTTTGTTTTGTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG01109.hp1 others(29): Show HG00408.hp2 HG00544.hp2 HG01109.hp1 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp1 HG02155.hp1 HG02572.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp2 HG03471.hp2 HG03491.hp2 HG03654.hp2 HG03834.hp1 HG04115.hp2 HG04228.hp1 NA18945.hp2 NA18950.hp2 NA18964.hp2 NA18983.hp2 NA18995.hp1 NA19012.hp1 NA19060.hp1 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0115 others(16): Show a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0003g0037 a0001c0001t0003g0080 a0001c0001t0010g0036	32	358	0.0894	26	c.43 others(37): Show c.4327_*4328insACACACACACACACACACACACACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JKAMP_chr14_59479517_59510410	59508423	C C	CACACACA others(19): Show CACACACACACACACACACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03239.hp2 HG03491.hp1 HG02602.hp2 HG03239.hp2 HG03491.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0002 a0001c0001t0002 a0003c0006t0002	a0001c0001t0002g0005 a0001c0001t0002g0068 a0003c0006t0002g0056 a0001c0001t0002g0005 a0001c0001t0002g0068 a0003c0006t0002g0056	3	358	0.0084	26	c.43 others(37): Show c.4351_*4352insACACACACACACACACACACACACAT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		3014		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63243103	T T	TTATATAT others(19): Show TTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0212 a0002c0002t0001g0212	1	310	0.0032	26	c.447 others(45): Show c.447+21547_447+21548insTATATATATATATATATATATATATA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA18967.hp2 HG02040.hp2 NA18967.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0184 a0003c0003t0001g0207 a0003c0003t0001g0184 a0003c0003t0001g0207	2	310	0.0065	26	c.334 others(45): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(19): Show AAAAGAAAAGAAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03225.hp1 HG00733.hp2 HG03225.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0147 a0005c0005t0001g0129 a0001c0001t0001g0147 a0005c0005t0001g0129	2	310	0.0065	26	c.333 others(45): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63361719	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0156 a0001c0031t0001g0156	1	310	0.0032	26	c.333 others(45): Show c.333+18573_333+18598dupTTTTTTTTTTTTTTTTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD6_chr17_76713451_76731606	76728412	A A	ATTTGTTT others(19): Show ATTTGTTTTTTTTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02735.hp2 HG02602.hp1 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0138 a0001c0003t0001g0139 a0001c0003t0001g0138 a0001c0003t0001g0139	2	440	0.0046	26	c.-19 others(37): Show c.-1938_-1937insCAAAACAAAACAAAAAAAAAAACAAA	JMJD6	ENSG00000070495.15	transcript	ENST00000397625.9	protein_coding		1807		chr17	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATTA others(19): Show ATATATTATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	386	0.0026	26	c.65- others(41): Show c.65-1325_65-1324insATATTATATATATATATATTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMY_chr5_79231131_79332211	79256831	C C	CACTGCAG others(19): Show CACTGCAGTCCTCAAGTCTTGAGCTCA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	342	0.0029	26	c.103 others(47): Show c.1032+19158_1032+19159insCTCAAGTCTTGAGCTCAACTGCAG TC	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79278692	A A	AAGCAATC others(19): Show AAGCAATCTTCCGCCTACCTCAGCCTC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	342	0.0029	26	c.120 others(43): Show c.1206+609_1206+610insAGCAATCTTCCGCCTACCTCAGCCTC	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	2/10			chr5	TogoVar
JMY_chr5_79231131_79332211	79327483	A A	AATTTTTA others(19): Show AATTTTTAAATGGGGGTGGGGAGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	342	0.0029	26	c.58 others(37): Show c.5881_*5882insATTTTTAAATGGGGGTGGGGAGAGGC	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding		273		chr5	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp2 HG02451.hp1 others(7): Show HG00423.hp2 HG01975.hp2 HG02451.hp1 HG02723.hp2 HG02735.hp1 HG02976.hp1 HG03098.hp1 NA18942.hp2 NA18975.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0020 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0023 a0001c0005t0007	a0001c0001t0002g0079 a0001c0001t0002g0195 a0001c0001t0002g0196 others(5): Show a0001c0001t0002g0079 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0232 a0001c0001t0020g0030 a0001c0001t0023g0189 a0001c0005t0007g0002	10	330	0.0303	26	c.113 others(47): Show c.1139+18816_1139+18841dupGTGTGTGTGTGTGTGTGTGTGTGT GT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44134614	T T	TATAAATA others(19): Show TATAAATATTTATTATAAATATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00597.hp2 others(57): Show HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01258.hp1 HG01261.hp1 HG01975.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02896.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18612.hp1 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18995.hp2 NA19005.hp2 NA19010.hp2 NA19054.hp2 NA19060.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19079.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0005 a0002c0009 a0002c0010 a0008c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0006t0011 a0001c0006t0021 a0001c0006t0032 a0001c0006t0056 a0001c0006t0088 a0001c0006t0105 a0001c0006t0106 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0025 a0002c0002t0027 a0002c0002t0033 a0002c0002t0042 a0002c0002t0059 a0002c0002t0067 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0005t0004 a0002c0005t0010 a0002c0005t0025 a0002c0005t0039 a0002c0005t0100 a0002c0009t0029 a0002c0009t0074 a0002c0010t0016 a0008c0026t0012	a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0002g0064 others(57): Show a0001c0001t0001g0236 a0001c0001t0001g0286 a0001c0001t0002g0064 a0001c0001t0003g0057 a0001c0001t0009g0114 a0001c0001t0012g0150 a0001c0006t0011g0149 a0001c0006t0011g0160 a0001c0006t0011g0168 a0001c0006t0011g0169 a0001c0006t0011g0170 a0001c0006t0021g0228 a0001c0006t0021g0235 a0001c0006t0032g0311 a0001c0006t0056g0097 a0001c0006t0088g0223 a0001c0006t0105g0313 a0001c0006t0106g0322 a0002c0002t0003g0024 a0002c0002t0003g0026 a0002c0002t0003g0032 a0002c0002t0003g0067 a0002c0002t0004g0231 a0002c0002t0004g0237 a0002c0002t0006g0146 a0002c0002t0006g0155 a0002c0002t0006g0156 a0002c0002t0006g0157 a0002c0002t0006g0166 a0002c0002t0010g0031 a0002c0002t0015g0107 a0002c0002t0018g0112 a0002c0002t0020g0154 a0002c0002t0025g0045 a0002c0002t0027g0229 a0002c0002t0027g0230 a0002c0002t0027g0233 a0002c0002t0033g0305 a0002c0002t0042g0025 a0002c0002t0059g0123 a0002c0002t0067g0136 a0002c0002t0084g0193 a0002c0002t0085g0278 a0002c0002t0086g0245 a0002c0005t0004g0194 a0002c0005t0004g0211 a0002c0005t0004g0215 a0002c0005t0010g0008 a0002c0005t0010g0009 a0002c0005t0010g0014 a0002c0005t0010g0016 a0002c0005t0025g0007 a0002c0005t0025g0010 a0002c0005t0039g0003 a0002c0005t0100g0210 a0002c0009t0029g0272 a0002c0009t0029g0274 a0002c0009t0074g0173 a0002c0010t0016g0103 a0008c0026t0012g0158	60	338	0.1775	26	c.117 others(47): Show c.1170-15992_1170-15991insTATATATATTTATAATAAATATTT AT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87677185	T T	TATACACA others(19): Show TATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0006 a0001c0051t0006	a0001c0051t0006g0098 a0001c0051t0006g0098	1	380	0.0026	26	c.116 others(45): Show c.1161-6956_1161-6955insTACACACACACACACACACACACACA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	436	0.0023	26	c.-29 others(37): Show c.-2961_-2960insTTTTTTTTTTTTTTTTTTTTTTTTTT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124109885	T T	TATATATG others(19): Show TATATATGACATATATGTCATACTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0047 a0005c0047	a0005c0047t0003 a0005c0047t0003	a0005c0047t0003g0007 a0005c0047t0003g0007	1	116	0.0086	26	c.73+ others(43): Show c.73+76078_73+76079insGACATATATGTCATACTTTGATATAT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124265298	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02451.hp2 HG01243.hp2 HG02055.hp2 HG02451.hp2	a0001 a0001	a0001c0007 a0001c0012 a0001c0046 a0001c0007 a0001c0012 a0001c0046	a0001c0007t0003 a0001c0012t0010 a0001c0046t0009 a0001c0007t0003 a0001c0012t0010 a0001c0046t0009	a0001c0007t0003g0101 a0001c0012t0010g0078 a0001c0046t0009g0092 a0001c0007t0003g0101 a0001c0012t0010g0078 a0001c0046t0009g0092	3	116	0.0259	26	c.456 others(41): Show c.456+622_456+623insTTTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	4/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124439200	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0007 a0007	a0007c0051 a0007c0051	a0007c0051t0008 a0007c0051t0008	a0007c0051t0008g0075 a0007c0051t0008g0075	1	116	0.0086	26	c.319 others(43): Show c.3198+175_3198+200dupACACACACACACACACACACACACAC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	18/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124623399	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02273.hp1 HG03041.hp1 others(4): Show HG01175.hp1 HG02273.hp1 HG03041.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp2 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0005 a0001c0010 others(2): Show a0001c0002 a0001c0005 a0001c0010 a0001c0022 a0003c0071	a0001c0002t0007 a0001c0002t0024 a0001c0005t0001 others(3): Show a0001c0002t0007 a0001c0002t0024 a0001c0005t0001 a0001c0010t0002 a0001c0022t0007 a0003c0071t0023	a0001c0002t0007g0020 a0001c0002t0024g0006 a0001c0005t0001g0034 others(4): Show a0001c0002t0007g0020 a0001c0002t0024g0006 a0001c0005t0001g0034 a0001c0010t0002g0012 a0001c0010t0002g0067 a0001c0022t0007g0039 a0003c0071t0023g0086	7	116	0.0603	26	c.518 others(45): Show c.5183-9017_5183-8992dupCACACACACACACACACACACACACA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(19): Show GTTGTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18983.hp1 NA18995.hp2 HG02165.hp1 NA18983.hp1 NA18995.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0001c0067 a0002c0027 a0001c0021 a0001c0067 a0002c0027	a0001c0021t0031 a0001c0067t0001 a0002c0027t0001 a0001c0021t0031 a0001c0067t0001 a0002c0027t0001	a0001c0021t0031g0062 a0001c0067t0001g0055 a0002c0027t0001g0033 a0001c0021t0031g0062 a0001c0067t0001g0055 a0002c0027t0001g0033	3	116	0.0259	26	c.566 others(45): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	512249	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0018 a0018	a0018c0017 a0018c0017	a0018c0017t0007 a0018c0017t0007	a0018c0017t0007g0078 a0018c0017t0007g0078	1	254	0.0039	26	c.-84 others(43): Show c.-84+7496_-84+7497insGTGTGTGTGTGTGTGTGTGTGTATAT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	512484	C C	CTCTTTTA others(19): Show CTCTTTTACCCATAGTTACCTGATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0236 a0006c0018t0001g0236	1	254	0.0039	26	c.-84 others(43): Show c.-84+7731_-84+7756dupTCTTTTACCCATAGTTACCTGATTTA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0006 a0004c0011t0006	a0004c0011t0006g0002 a0004c0011t0006g0002	1	254	0.0039	26	c.-83 others(43): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAAAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG03130.hp2 HG02559.hp1 HG02572.hp1 HG03130.hp2	a0007 a0014 a0017 a0007 a0014 a0017	a0007c0025 a0014c0012 a0017c0024 a0007c0025 a0014c0012 a0017c0024	a0007c0025t0002 a0014c0012t0002 a0017c0024t0005 a0007c0025t0002 a0014c0012t0002 a0017c0024t0005	a0007c0025t0002g0091 a0014c0012t0002g0072 a0017c0024t0005g0090 a0007c0025t0002g0091 a0014c0012t0002g0072 a0017c0024t0005g0090	3	254	0.0118	26	c.-83 others(43): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAAAAAGAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03654.hp1 NA18961.hp1 HG00408.hp1 HG03654.hp1 NA18961.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0188 a0007c0007t0001g0186 a0007c0007t0001g0187 a0001c0001t0001g0188 a0007c0007t0001g0186 a0007c0007t0001g0187	3	406	0.0074	26	c.-28 others(43): Show c.-28-2436_-28-2435insGTATATATATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK4_chr1_62231165_62324434	62278400	T T	TCTTTCTT others(19): Show TCTTTCTTTTCTTTCTTTATTTCTTTC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0001 a0005c0050t0001	a0005c0050t0001g0122 a0005c0050t0001g0122	1	322	0.0031	26	c.16+ others(41): Show c.16+3148_16+3149insGAAAGAAATAAAGAAAGAAAAGAAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar
KANSL1L_chr2_210016421_210176409	210162222	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18943.hp1 HG03834.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0088 a0001c0001t0006g0098 a0001c0001t0001g0088 a0001c0001t0006g0098	2	284	0.0070	26	c.-29 others(43): Show c.-29-7612_-29-7611insTATATATATATATATATATATATATA	KANSL1L	ENSG00000144445.17	transcript	ENST00000281772.14	protein_coding	1/14			chr2	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(19): Show CTTTTTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	321	0.0031	26	c.129 others(45): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAGAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0230 a0001c0001t0006g0230	1	321	0.0031	26	c.129 others(45): Show c.1290-1611_1290-1610insAAAAAAAAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46130187	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0314 a0003c0004t0005g0314	1	321	0.0031	26	c.129 others(47): Show c.1290-35487_1290-35486insTTTTTTTTTTTTTTTTTTTTTTTT TT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KASH5_chr19_49383249_49422990	49393682	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	354	0.0028	26	c.44- others(39): Show c.44-781_44-756dupGTGTGTGTGTGTGTGTGTGTGTGTGT	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18965.hp1 NA19062.hp2 others(2): Show HG02145.hp2 NA18965.hp1 NA19062.hp2 NA19082.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0003 a0001c0001t0001 a0001c0002t0001 a0002c0003t0003	a0001c0001t0001g0128 a0001c0002t0001g0127 a0001c0002t0001g0146 others(2): Show a0001c0001t0001g0128 a0001c0002t0001g0127 a0001c0002t0001g0146 a0001c0002t0001g0152 a0002c0003t0003g0116	5	374	0.0134	26	c.430 others(43): Show c.430+9431_430+9432insATATATATATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18982.hp1 HG02735.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0004 a0001c0002t0006g0360 a0001c0001t0001g0004 a0001c0002t0006g0360	2	374	0.0054	26	c.230 others(45): Show c.2305+1033_2305+1034insAAAAAAAAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	296	0.0034	26	c.502 others(43): Show c.502-8423_502-8398dupTTTTTTTTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30274896	C C	CGCGCGCG others(19): Show CGCGCGCGCGTGCGCGCGCAGCGCGCT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0248 a0001c0001t0049g0248	1	386	0.0026	26	c.323 others(43): Show c.323+5166_323+5167insAGCGCGCTGCGCGCGCACGCGCGCGC	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30274907	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCGCGCGCACACACACA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0110 a0001c0001t0016g0110	1	386	0.0026	26	c.323 others(43): Show c.323+5155_323+5156insTGTGTGTGTGCGCGCGCGCGCGCGCG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34181853	G G	GTCCATAT others(19): Show GTCCATATATATATCCATATATATATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	344	0.0029	26	c.-14 others(45): Show c.-14-18164_-14-18163insTATATATATATGGATATATATATGGA	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34195690	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp1 HG03579.hp2 others(2): Show HG02886.hp2 HG02897.hp1 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0002 a0001c0001t0004 a0001c0001t0014	a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0004g0239 a0001c0001t0014g0342	5	344	0.0145	26	c.-15 others(45): Show c.-15+14260_-15+14261insTTTTTTTTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27661935	T T	TATATATA others(19): Show TATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	152	0.0066	26	c.540 others(45): Show c.540+13219_540+13220insCACATACATATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661995	T T	TATATATA others(19): Show TATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	152	0.0066	26	c.540 others(45): Show c.540+13279_540+13280insCACATACATATATATATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02451.hp2 HG00558.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0020 a0002c0002t0005g0037 a0002c0002t0001g0020 a0002c0002t0005g0037	2	146	0.0137	26	c.226 others(45): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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