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
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(18): Show CCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01261.hp1 HG02004.hp2 others(1): Show HG00642.hp1 HG01261.hp1 HG02004.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0033 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0033	4	161	0.0248	25	c.-79 others(34): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JADE3_chrX_46907421_47066242	46923393	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	8	0.1250	25	c.-12 others(44): Show c.-12+10678_-12+10702dupTTTTTTTTTTTTTTTTTTTTTTTTT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46926021	A A	AATTTTAT others(18): Show AATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02886.hp1 others(1): Show HG02109.hp2 HG02717.hp1 HG02886.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0164 a0001c0001t0004g0020 a0001c0001t0006g0031 others(1): Show a0001c0001t0001g0164 a0001c0001t0004g0020 a0001c0001t0006g0031 a0001c0001t0006g0032	4	78	0.0513	25	c.-12 others(44): Show c.-12+13334_-12+13358dupTTTTATTTTATTTTATTTTATTTTA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 HG02109.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0007 a0001c0003t0001 a0001c0005t0007	a0001c0003t0001g0061 a0001c0005t0007g0291 a0001c0003t0001g0061 a0001c0005t0007g0291	2	100	0.0200	25	c.105 others(44): Show c.1057-2376_1057-2352dupAAAAAAAAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0048 a0001c0004t0004g0048	1	216	0.0046	25	c.46 others(36): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAK3_chr19_17819782_17852982	17831993	G G	GGCCAGGT others(18): Show GGCCAGGTGCAGTGGCTCACGCCTGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0007 a0002c0018t0007	a0002c0018t0007g0098 a0002c0018t0007g0098	1	412	0.0024	25	c.268 others(42): Show c.2681-220_2681-196dupACAGGCGTGAGCCACTGCACCTGGC	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	19/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6126373	A A	ACAAACAC others(18): Show ACAAACACACACCATGCAGAAACACT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG03041.hp1 others(2): Show HG02451.hp1 HG02559.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0190 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0204	5	232	0.0216	25	c.-14 others(46): Show c.-147-13377_-147-13376insAGTGTTTCTGCATGGTGTGTGTTT G	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6139770	T T	TATAAAAT others(18): Show TATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	29	0.0345	25	c.-14 others(46): Show c.-147-26798_-147-26774dupTTTATTTTATTTTATTTTATTTTA T	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG02015.hp2 others(16): Show HG00323.hp1 HG00544.hp1 HG02015.hp2 HG02080.hp2 HG02523.hp2 HG02735.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18957.hp1 NA18962.hp2 NA18968.hp1 NA18982.hp2 NA19004.hp2 NA19060.hp1 NA19070.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0002c0006 a0002c0013	a0001c0002t0005 a0001c0002t0019 a0001c0003t0018 others(9): Show a0001c0002t0005 a0001c0002t0019 a0001c0003t0018 a0001c0003t0072 a0001c0004t0003 a0001c0004t0022 a0001c0004t0062 a0001c0004t0087 a0001c0008t0001 a0002c0006t0003 a0002c0006t0022 a0002c0013t0075	a0001c0002t0005g0228 a0001c0002t0005g0229 a0001c0002t0005g0235 others(16): Show a0001c0002t0005g0228 a0001c0002t0005g0229 a0001c0002t0005g0235 a0001c0002t0019g0224 a0001c0003t0018g0207 a0001c0003t0072g0240 a0001c0004t0003g0196 a0001c0004t0003g0218 a0001c0004t0003g0226 a0001c0004t0022g0160 a0001c0004t0062g0035 a0001c0004t0087g0199 a0001c0008t0001g0161 a0002c0006t0003g0203 a0002c0006t0003g0221 a0002c0006t0003g0230 a0002c0006t0003g0237 a0002c0006t0022g0114 a0002c0013t0075g0206	19	127	0.1496	25	c.-14 others(46): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT A	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18974.hp2 NA19002.hp1 others(1): Show NA18945.hp2 NA18974.hp2 NA19002.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0017 a0002c0006 a0001c0003 a0001c0017 a0002c0006	a0001c0003t0034 a0001c0017t0032 a0002c0006t0003 a0001c0003t0034 a0001c0017t0032 a0002c0006t0003	a0001c0003t0034g0159 a0001c0017t0032g0158 a0002c0006t0003g0185 others(1): Show a0001c0003t0034g0159 a0001c0017t0032g0158 a0002c0006t0003g0185 a0002c0006t0003g0232	4	112	0.0357	25	c.-14 others(46): Show c.-149+40300_-149+40301insAAAAAAATATATATATATATATAT A	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132079158	C C	CTGGGAGC others(18): Show CTGGGAGCGGACGGCCTGGGAGCGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02015.hp1 HG02027.hp2 others(16): Show HG00597.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02258.hp1 HG02451.hp1 HG02523.hp1 HG02615.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18971.hp1 NA18983.hp1 NA19081.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0015 a0001c0017 others(9): Show a0001c0001 a0001c0015 a0001c0017 a0001c0034 a0002c0016 a0003c0018 a0003c0021 a0003c0038 a0004c0007 a0004c0033 a0004c0035 a0006c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0015t0001 a0001c0015t0002 a0001c0017t0003 a0001c0034t0001 a0002c0016t0006 a0003c0018t0002 a0003c0021t0001 a0003c0038t0001 a0004c0007t0002 a0004c0033t0002 a0004c0035t0005 a0006c0041t0026	a0001c0001t0001g0117 a0001c0001t0002g0026 a0001c0001t0003g0102 others(16): Show a0001c0001t0001g0117 a0001c0001t0002g0026 a0001c0001t0003g0102 a0001c0001t0008g0098 a0001c0015t0001g0017 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0017t0003g0104 a0001c0034t0001g0021 a0002c0016t0006g0099 a0003c0018t0002g0027 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0004c0007t0002g0025 a0004c0033t0002g0028 a0004c0035t0005g0020 a0006c0041t0026g0019	19	50	0.3800	25	c.-13 others(46): Show c.-138+13097_-138+13098insTGGGAGCGGACGGCCTGGGAGCGG A	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108862	G G	GTATATAA others(18): Show GTATATAAATTATATACGCAAATGTA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0075 a0004c0009t0002g0075	1	153	0.0065	25	c.135 others(42): Show c.135+3935_135+3936insGCAAATGTATATATAAATTATATAC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108879	A A	ACAAATGT others(18): Show ACAAATGTATATATAAATTATATACG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01891.hp2 others(15): Show HG00423.hp2 HG00597.hp2 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02647.hp1 HG02717.hp1 HG03017.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18944.hp2 NA18960.hp1 NA18983.hp1 NA18999.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0042 a0002c0008 others(4): Show a0001c0001 a0001c0042 a0002c0008 a0003c0002 a0003c0018 a0004c0007 a0004c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0020 a0001c0042t0022 a0002c0008t0017 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0004c0007t0001 a0004c0007t0002 a0004c0043t0005	a0001c0001t0001g0117 a0001c0001t0002g0026 a0001c0001t0002g0105 others(15): Show a0001c0001t0001g0117 a0001c0001t0002g0026 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0156 a0001c0001t0008g0143 a0001c0001t0020g0120 a0001c0042t0022g0127 a0002c0008t0017g0121 a0003c0002t0001g0013 a0003c0002t0001g0112 a0003c0002t0001g0114 a0003c0002t0002g0111 a0003c0018t0002g0118 a0004c0007t0001g0108 a0004c0007t0001g0123 a0004c0007t0002g0122 a0004c0043t0005g0126	18	102	0.1765	25	c.135 others(42): Show c.135+4026_135+4050dupAATTATATACGCAAATGTATATATA	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108960	G G	GTATATAT others(18): Show GTATATATAAATTATATACGCAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG02132.hp1 others(11): Show HG00597.hp1 HG02027.hp2 HG02132.hp1 HG02135.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG03491.hp2 HG03492.hp2 HG03834.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA19081.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0015 a0001c0034 a0001c0040 others(6): Show a0001c0015 a0001c0034 a0001c0040 a0003c0021 a0003c0038 a0004c0033 a0004c0035 a0006c0041 a0007c0039	a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 others(8): Show a0001c0015t0001 a0001c0015t0002 a0001c0015t0005 a0001c0034t0001 a0001c0040t0002 a0003c0021t0001 a0003c0038t0001 a0004c0033t0002 a0004c0035t0005 a0006c0041t0026 a0007c0039t0002	a0001c0015t0001g0017 a0001c0015t0001g0030 a0001c0015t0002g0018 others(11): Show a0001c0015t0001g0017 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0005g0141 a0001c0034t0001g0021 a0001c0040t0002g0029 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0004c0033t0002g0028 a0004c0035t0005g0020 a0006c0041t0026g0019 a0007c0039t0002g0134	14	156	0.0897	25	c.135 others(42): Show c.135+4041_135+4042insATATATATAAATTATATACGCAAAT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159576	C C	CCCTGTGT others(18): Show CCCTGTGTGATGCTGGGGGTCCTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp1 HG01255.hp2 others(4): Show HG00642.hp1 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0012 a0001c0001 a0002c0004 a0005c0012	a0001c0001t0036 a0002c0004t0004 a0005c0012t0007 a0001c0001t0036 a0002c0004t0004 a0005c0012t0007	a0001c0001t0036g0014 a0002c0004t0004g0038 a0002c0004t0004g0040 others(4): Show a0001c0001t0036g0014 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0051 a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048	7	153	0.0458	25	c.222 others(44): Show c.2221-3615_2221-3614insTCCTCTTCCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159705	C C	CCTGTGTG others(18): Show CCTGTGTGATGCTGGGGGGCCTCTCG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0143 a0001c0001t0008g0098 a0001c0001t0008g0143	2	156	0.0128	25	c.222 others(44): Show c.2221-3487_2221-3486insGCCTCTCGCTGTGTGATGCTGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159807	G G	GCTGTGTG others(18): Show GCTGTGTGATGCTGGGGGGCCTCTCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0030 a0002c0025t0030	a0002c0025t0030g0103 a0002c0025t0030g0103	1	46	0.0217	25	c.222 others(44): Show c.2221-3358_2221-3334dupCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160092	C C	CCTGTGTG others(18): Show CCTGTGTGATGCTGGGGGGCCTCTCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0106 a0002c0026t0001g0106	1	142	0.0070	25	c.222 others(44): Show c.2221-3106_2221-3105insTGGGGGGCCTCTCGCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160445	G G	GGGGGCGC others(18): Show GGGGGCGCCTCTTGCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp1 HG02027.hp2 HG00642.hp2 HG01981.hp1 HG02027.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0003 a0003c0021 a0001c0013 a0003c0003 a0003c0021	a0001c0013t0001 a0003c0003t0001 a0003c0021t0001 a0001c0013t0001 a0003c0003t0001 a0003c0021t0001	a0001c0013t0001g0094 a0003c0003t0001g0132 a0003c0021t0001g0032 a0001c0013t0001g0094 a0003c0003t0001g0132 a0003c0021t0001g0032	3	154	0.0195	25	c.222 others(44): Show c.2221-2760_2221-2759insCGCCTCTTGCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGCGT others(18): Show GGGGGCGTGTCTTCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03041.hp2 HG01069.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0082 a0001c0006t0003g0083	2	134	0.0149	25	c.222 others(44): Show c.2221-2394_2221-2393insCGTGTCTTCCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGGGC others(18): Show GGGGGGGCCTCTCACTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02523.hp2 HG02040.hp2 HG02523.hp2	a0003 a0003	a0003c0002 a0003c0003 a0003c0002 a0003c0003	a0003c0002t0001 a0003c0003t0001 a0003c0002t0001 a0003c0003t0001	a0003c0002t0001g0124 a0003c0003t0001g0071 a0003c0002t0001g0124 a0003c0003t0001g0071	2	134	0.0149	25	c.222 others(44): Show c.2221-2392_2221-2391insCCTCTCACTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160865	G G	GAGGGGGC others(18): Show GAGGGGGCCTCTCCCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0019 a0003c0002t0019	a0003c0002t0019g0093 a0003c0002t0019g0093	1	114	0.0088	25	c.222 others(44): Show c.2221-2344_2221-2343insAGGGGGCCTCTCCCTGTGTGATGCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23			chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160878	C C	CCCTGTGT others(18): Show CCCTGTGTGATGCTGGGGAGCCTCTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02717.hp1 NA19043.hp1 HG02129.hp1 HG02717.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0017 a0004c0011 a0004c0043 a0001c0017 a0004c0011 a0004c0043	a0001c0017t0005 a0004c0011t0001 a0004c0043t0005 a0001c0017t0005 a0004c0011t0001 a0004c0043t0005	a0001c0017t0005g0079 a0004c0011t0001g0137 a0004c0043t0005g0126 a0001c0017t0005g0079 a0004c0011t0001g0137 a0004c0043t0005g0126	3	134	0.0224	25	c.222 others(44): Show c.2221-2319_2221-2318insTGGGGAGCCTCTTCCTGTGTGATGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132161551	T T	TCTCTCCC others(18): Show TCTCTCCCTGTGTGATGCTGGGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0098	1	153	0.0065	25	c.222 others(44): Show c.2221-1634_2221-1633insCCTCTCCCTGTGTGATGCTGGGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173160	C C	CTCTCTCT others(18): Show CTCTCTCTCTCCCCCTCCTTCCCCCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0022 a0001c0042t0022	a0001c0042t0022g0127 a0001c0042t0022g0127	1	152	0.0066	25	c.11 others(46): Show c.1103+4149_*1103+4150insCCGTCTCTCTCTCCCCCTCCTTCC C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG02155.hp2 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0245 a0001c0001t0033g0102 a0001c0001t0002g0245 a0001c0001t0033g0102	2	145	0.0138	25	c.67+ others(42): Show c.67+20895_67+20896insATATATATATATATATATATATATT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660783	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0274 a0001c0001t0011g0274	1	282	0.0035	25	c.67+ others(42): Show c.67+20895_67+20896insATATATATATATATATATATATATA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9			chr21	TogoVar
JAM3_chr11_134064072_134157001	134154619	G G	GCCCCTCC others(18): Show GCCCCTCCTGGGTGGTGCAGCCTCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	387	0.0026	25	c.54 others(36): Show c.5438_*5439insCCCCTCCTGGGTGGTGCAGCCTCGC	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2619		chr11	TogoVar
JAML_chr11_118188725_118230011	118221246	C C	CCTTTGCA others(18): Show CCTTTGCAAGCTTGAAATGCTCTAAA	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18975.hp2 NA18980.hp1 others(2): Show NA18967.hp2 NA18975.hp2 NA18980.hp1 NA18985.hp2 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0139 a0004c0004t0001g0043 a0004c0004t0001g0044 a0004c0004t0001g0139	5	372	0.0134	25	c.-21 others(42): Show c.-21+3670_-21+3694dupTTTAGAGCATTTCAAGCTTGCAAAG	JAML	ENSG00000160593.20	transcript	ENST00000356289.10	protein_coding	1/9			chr11	TogoVar
JAZF1_chr7_27825577_28185795	27849774	C C	CACACACA others(18): Show CACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	203	0.0049	25	c.386 others(42): Show c.386-8908_386-8907insTGTGTGTGTGTGTGTGTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28120501	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	19	0.0526	25	c.115 others(44): Show c.115+59937_115+59961dupAAAAAAAAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30025535	A A	AAGGGGAG others(18): Show AAGGGGAGGGGAGGGGAGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0049 a0001c0005t0049	a0001c0005t0049g0108 a0001c0005t0049g0108	1	85	0.0118	25	c.404 others(42): Show c.4045+543_4045+567dupCCCCTCCCCTCCCCTCCCCTCCCCT	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	3/3			chr10	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTGTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp2 NA20300.hp2 HG01109.hp1 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0049 a0001c0001t0001g0121	3	344	0.0087	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTGTTTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTTTCTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp2 HG02965.hp1 HG02145.hp1 HG02615.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089	3	344	0.0087	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTCTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502751	T T	TTTTTGTT others(18): Show TTTTTGTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19059.hp2 NA19089.hp1 HG01884.hp1 NA19059.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0051 a0001c0001t0001g0117 a0001c0001t0001g0135	3	344	0.0087	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTTTTTGTTTTTGTTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59502752	T T	TTTTGTTT others(18): Show TTTTGTTTTTTTTTTTTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	311	0.0032	25	c.718 others(42): Show c.718-1099_718-1098insGTTTTTTTTTTTTTTGTTTTTGTTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JKAMP_chr14_59479517_59510410	59504472	T T	TTTTTCAC others(18): Show TTTTTCACCTATAATGAACAGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02717.hp2 HG02809.hp1 others(3): Show HG02109.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0108 a0001c0002t0006g0109 others(2): Show a0001c0002t0006g0047 a0001c0002t0006g0108 a0001c0002t0006g0109 a0001c0002t0006g0110 a0001c0002t0006g0111	6	356	0.0169	25	c.41 others(34): Show c.417_*418insCAGTTTTGTTTTCACCTATAATGAA	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	7/7	418	INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	68	0.0147	25	c.334 others(44): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63292144	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18981.hp1 NA18985.hp2 NA18947.hp1 NA18981.hp1 NA18985.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0201 a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0201	3	76	0.0395	25	c.334 others(44): Show c.334-27381_334-27380insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(18): Show AAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02040.hp2 HG03130.hp2 others(3): Show HG00099.hp2 HG02040.hp2 HG03130.hp2 NA18942.hp1 NA18956.hp1 NA18981.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0164 a0002c0002t0001g0226 a0002c0002t0001g0246 others(3): Show a0002c0002t0001g0164 a0002c0002t0001g0226 a0002c0002t0001g0246 a0003c0003t0001g0194 a0003c0003t0001g0201 a0003c0003t0001g0207	6	165	0.0364	25	c.333 others(44): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(18): Show AAAAGAAAAGAAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03704.hp1 NA19030.hp2 HG00280.hp1 HG03704.hp1 NA19030.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0013 a0004c0004 a0010c0013	a0004c0004t0002 a0010c0013t0002 a0004c0004t0002 a0010c0013t0002	a0004c0004t0002g0009 a0004c0004t0002g0016 a0010c0013t0002g0015 a0004c0004t0002g0009 a0004c0004t0002g0016 a0010c0013t0002g0015	3	162	0.0185	25	c.333 others(44): Show c.333+42693_333+42694insCTTTTTCTTTTCTTTTCTTTTCTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	9	0.1111	25	c.169 others(42): Show c.169-7148_169-7147insAAAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	93	0.0108	25	c.65- others(40): Show c.65-1325_65-1324insATATATATATATATATATATATTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0002 a0011c0017t0002	a0011c0017t0002g0028 a0011c0017t0002g0028	1	93	0.0108	25	c.65- others(40): Show c.65-1325_65-1324insATATATATATATATATATATTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMY_chr5_79231131_79332211	79270387	A A	ATAAAATA others(18): Show ATAAAATATATATTTACATAAATATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01106.hp1 HG01515.hp1 others(1): Show HG00733.hp2 HG01106.hp1 HG01515.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0002 a0002c0002t0002g0058 a0002c0002t0002g0061	4	336	0.0119	25	c.103 others(44): Show c.1033-7466_1033-7442dupATATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270498	A A	ATATATTT others(18): Show ATATATTTACATAAATATTTAAAATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19074.hp2 NA18981.hp2 NA19074.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0009 a0004c0003t0003 a0004c0003t0009	a0004c0003t0003g0162 a0004c0003t0009g0153 a0004c0003t0003g0162 a0004c0003t0009g0153	2	308	0.0065	25	c.103 others(44): Show c.1033-7388_1033-7387insGTATATTTACATAAATATTTAAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JMY_chr5_79231131_79332211	79270523	A A	ATATATTT others(18): Show ATATATTTACATAAATATTTAAAATG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	119	0.0084	25	c.103 others(44): Show c.1033-7321_1033-7297dupATTTAAAATGTATATTTACATAAAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44134084	T T	TTATAAAT others(18): Show TTATAAATATATATTTATTATAAATA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18960.hp1 NA19088.hp2 NA18941.hp1 NA18960.hp1 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0046 a0001c0003t0002 a0001c0003t0046	a0001c0003t0002g0018 a0001c0003t0002g0020 a0001c0003t0046g0019 a0001c0003t0002g0018 a0001c0003t0002g0020 a0001c0003t0046g0019	3	309	0.0097	25	c.117 others(46): Show c.1170-15486_1170-15462dupTATTTATAATAAATATATATTTAT A	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134093	T T	TATATTTA others(18): Show TATATTTATTATAAATATATAAATAA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	201	0.0050	25	c.117 others(46): Show c.1170-15495_1170-15471dupTTATTTATATATTTATAATAAATA T	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18960.hp2 NA19002.hp2 NA18747.hp1 NA18960.hp2 NA19002.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0026 a0001c0001 a0011c0026	a0001c0001t0001 a0011c0026t0001 a0001c0001t0001 a0011c0026t0001	a0001c0001t0001g0036 a0001c0001t0001g0265 a0011c0026t0001g0201 a0001c0001t0001g0036 a0001c0001t0001g0265 a0011c0026t0001g0201	3	212	0.0142	25	c.116 others(46): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAAAAAAA A	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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