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
ITGB5_chr3_124756948_124892365	124810908	T T	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04199.hp1 HG03453.hp1 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0235 a0004c0005t0003g0143 a0001c0001t0001g0235 a0004c0005t0003g0143	2	299	0.0067	48	c.112 others(67): Show c.1129-1753_1129-1752insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	8/14			chr3	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TGTATATA others(41): Show TGTATATATATATGTATATATATGTATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	6	0.1667	48	c.101 others(67): Show c.1015+6588_1015+6589insGTATATATATATGTATATATATGTAT ATATATATACACACACACACAC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10			chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATAATATTCTATATTATATTCTATATAATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0224 a0004c0005t0001g0224	1	282	0.0035	48	c.195 others(65): Show c.1958-825_1958-778dupATATTCTATATTATATTCTATATAATAT TCTATATTATATTCTATATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATTATATTCTATATTATATTCTATATAATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18980.hp2 NA18950.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	283	0.0071	48	c.195 others(65): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATATAATA TTCTATATTATATTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737678	T T	TTTCTATA others(41): Show TTTCTATATTATATTCTATATTATATTCTATATTATATTCTATATTATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	282	0.0035	48	c.195 others(65): Show c.1958-923_1958-922insTATATTCTATATTATATTCTATATTATA TTCTATATTATATTCTATAT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(41): Show TATATTATATATTATATTCTATAAAATATTATATATTATATTCTATAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG01358.hp2 others(14): Show HG00323.hp1 HG00558.hp1 HG01358.hp2 HG02300.hp2 HG03831.hp2 NA18952.hp1 NA18953.hp1 NA18970.hp2 NA18980.hp1 NA18989.hp2 NA18991.hp2 NA18995.hp2 NA19010.hp1 NA19011.hp1 NA19057.hp1 NA19062.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0130 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0333	17	152	0.1118	48	c.195 others(65): Show c.1958-399_1958-398insAAATATTATATATTATATTCTATAAAAT ATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(41): Show TATATTATATATTATATTCTATATAATATTATATATTATATTCTATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	136	0.0074	48	c.195 others(65): Show c.1958-423_1958-422insTAATATTATATATTATATTCTATATAAT ATTATATATTATATTCTATA	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566755	A A	AACAGAGA others(41): Show AACAGAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0005 a0005	a0005c0079 a0005c0079	a0005c0079t0004 a0005c0079t0004	a0005c0079t0004g0282 a0005c0079t0004g0282	1	336	0.0030	48	c.215 others(65): Show c.2150-349_2150-348insCCTCCTTCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCTCTGT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITM2C_chr2_230859942_230884248	230862615	T T	TATCACTT others(41): Show TATCACTTGTGAAAGACATTACTTAATCACTGCCAATTATAATTGTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	396	0.0025	48	c.-24 others(59): Show c.-2411_-2410insATCACTTGTGAAAGACATTACTTAATCACTGCCA ATTATAATTGTAAA	ITM2C	ENSG00000135916.16	transcript	ENST00000326427.11	protein_coding		2326		chr2	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(41): Show GCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01346.hp2 HG02738.hp1 others(1): Show HG01099.hp1 HG01346.hp2 HG02738.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0001g0158	4	182	0.0220	48	c.130 others(67): Show c.1303-2619_1303-2572dupAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCAGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	TGCACACA others(41): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0230 a0001c0008t0002g0230	1	206	0.0049	48	c.130 others(67): Show c.1303-2587_1303-2586insGGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTGTGTGTGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067662	A A	ACCCCCTG others(41): Show ACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCACACACAGGTCAC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	221	0.0045	48	c.130 others(67): Show c.1303-2702_1303-2655dupGTGACCTGTGTGTGCAGAAGAGCTTG AGTGAACCTGGAGCTCAGGGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067702	A A	ACAGGTCA others(41): Show ACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCTGCACACG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	224	0.0045	48	c.130 others(67): Show c.1303-2742_1303-2695dupCGTGTGCAGAAGAGCTTGAGTGAACG TGGAGCTCAGGGGGGTGACCTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067827	C C	CTCAAGCT others(41): Show CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02647.hp1 others(4): Show HG02055.hp1 HG02559.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0203 others(4): Show a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0004g0224 a0001c0002t0001g0009 a0001c0002t0001g0150	7	222	0.0315	48	c.130 others(67): Show c.1303-2820_1303-2819insCTGAACGTGGAGCTCAGGGGGGTGAC CTGCGTGTGCAGAAGAGCTTGA	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6152789	A A	AATATATA others(41): Show AATATATATATATATATATATATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	181	0.0055	48	c.-14 others(69): Show c.-147-39793_-147-39792insATATGTATATATATATATATATAT ATATATATATATATATATATATAT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0049 a0001c0015t0049	a0001c0015t0049g0098 a0001c0015t0049g0098	1	109	0.0092	48	c.-14 others(69): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071876	C C	CTTTCTTT others(41): Show CTTTCTTTCCTTTCTTTCTTTCCTTTCTTTCTTTCCTTCCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp1 HG02258.hp1 HG03041.hp1	a0001 a0003 a0001 a0003	a0001c0017 a0003c0018 a0001c0017 a0003c0018	a0001c0017t0003 a0003c0018t0003 a0001c0017t0003 a0003c0018t0003	a0001c0017t0003g0104 a0003c0018t0003g0015 a0001c0017t0003g0104 a0003c0018t0003g0015	2	73	0.0274	48	c.-13 others(67): Show c.-138+5817_-138+5818insTCTTTCCTTTCTTTCTTTCCTTTCTT TCTTTCCTTCCTTTCTTTCTTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132108976	T T	TACGCAAA others(41): Show TACGCAAATGTATATATACATATACACGCAAATGTATATATACATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0016 a0001c0006t0016	a0001c0006t0016g0147 a0001c0006t0016g0147	1	113	0.0088	48	c.135 others(65): Show c.135+4073_135+4074insACATATACACGCAAATGTATATATACAT ATACACGCAAATGTATATAT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132116311	G G	GCACATTC others(41): Show GCACATTCAGATGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0043 a0004c0043	a0004c0043t0005 a0004c0043t0005	a0004c0043t0005g0126 a0004c0043t0005g0126	1	156	0.0064	48	c.136 others(63): Show c.136-756_136-709dupATGTGTGAGTGTGTGCATCATGGACGCTCC CCCCGAATACACATTCAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132116503	G G	GGTGTGAG others(41): Show GGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0098 a0001c0001t0008g0098	1	132	0.0076	48	c.136 others(63): Show c.136-335_136-288dupATGTGTGAGTGTGTGCATCATGGACGCTCC CCCCGAATACACATTCAG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160133	G G	GGGGGCCT others(41): Show GGGGGCCTCTCCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATGCT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02630.hp1 others(1): Show HG01891.hp1 HG02258.hp1 HG02630.hp1 HG06807.hp2	a0001 a0001	a0001c0006 a0001c0017 a0001c0019 a0001c0006 a0001c0017 a0001c0019	a0001c0006t0016 a0001c0017t0003 a0001c0019t0003 a0001c0006t0016 a0001c0017t0003 a0001c0019t0003	a0001c0006t0016g0147 a0001c0017t0003g0011 a0001c0017t0003g0104 others(1): Show a0001c0006t0016g0147 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0019t0003g0081	4	156	0.0256	48	c.222 others(67): Show c.2221-3072_2221-3071insCCTCTCCCTGTGTGATGCTGGGGGGC CTCTCGCTGTGTGATGCTGGGG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132186856	T T	TCGGGGGC others(41): Show TCGGGGGCGGGCCCTATCGGGGGCGGGGCCTGCCGGGGGCGGGGCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03017.hp1 HG03654.hp2 others(2): Show HG01255.hp1 HG03017.hp1 HG03654.hp2 NA20752.hp1 NA20805.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0009	a0002c0005 a0004c0046 a0005c0012 others(2): Show a0002c0005 a0004c0046 a0005c0012 a0005c0050 a0009c0049	a0002c0005t0010 a0004c0046t0007 a0005c0012t0010 others(2): Show a0002c0005t0010 a0004c0046t0007 a0005c0012t0010 a0005c0050t0032 a0009c0049t0010	a0002c0005t0010g0096 a0004c0046t0007g0091 a0005c0012t0010g0004 others(2): Show a0002c0005t0010g0096 a0004c0046t0007g0091 a0005c0012t0010g0004 a0005c0050t0032g0116 a0009c0049t0010g0036	5	146	0.0342	48	c.56 others(59): Show c.5603_*5604insCGGGGGCGGGCCCTATCGGGGGCGGGGCCTGCCG GGGGCGGGGCCTGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		1999		chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0240 a0001c0001t0043g0240	1	144	0.0069	48	c.67+ others(65): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM3_chr11_134064072_134157001	134154547	A A	ACCCCTCC others(41): Show ACCCCTCCTGGGTGGTGCAGCCTCGCCCCTCCTGGGTGGTGCAGCCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	55	0.0182	48	c.53 others(59): Show c.5366_*5367insCCCCTCCTGGGTGGTGCAGCCTCGCCCCTCCTGG GTGGTGCAGCCTCG	JAM3	ENSG00000166086.13	transcript	ENST00000299106.9	protein_coding		2547		chr11	TogoVar
JARID2_chr6_15241069_15527042	15415577	T T	TGCTGGCC others(41): Show TGCTGGCCGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGTCGGGGCG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0064 a0001c0002t0007g0064	1	267	0.0037	48	c.323 others(65): Show c.323+5221_323+5222insCGGGGGGCTGACCCCTCCACCTCCCTCC CGGTCGGGGCGGCTGGCCGG	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469368	T T	TTCTCCCC others(41): Show TTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 HG03942.hp2 others(1): Show HG01884.hp2 HG02976.hp1 HG03942.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0031 a0001c0002t0005 a0001c0002t0031	a0001c0002t0005g0192 a0001c0002t0005g0264 a0001c0002t0005g0267 others(1): Show a0001c0002t0005g0192 a0001c0002t0005g0264 a0001c0002t0005g0267 a0001c0002t0031g0135	4	10	0.4000	48	c.670 others(63): Show c.670+675_670+676insCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15469378	C C	CTCCCCCT others(41): Show CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	281	0.0036	48	c.670 others(63): Show c.670+675_670+676insCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTTTCCCCCTCTCCCCCT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JMJD1C_chr10_63162225_63470977	63277731	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0128 a0001c0038t0001g0128	1	68	0.0147	48	c.334 others(67): Show c.334-12968_334-12967insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25			chr10	TogoVar
JMY_chr5_79231131_79332211	79270616	T T	TTAAAATG others(41): Show TTAAAATGTATATTTACATAAATGTTTATATAAAATATATTTACATAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03516.hp2 NA18522.hp2 HG02723.hp1 HG03516.hp2 NA18522.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0180 a0003c0005t0010g0181 a0003c0005t0010g0183 a0003c0005t0010g0180 a0003c0005t0010g0181 a0003c0005t0010g0183	3	339	0.0088	48	c.103 others(67): Show c.1033-7292_1033-7291insAAATGTATATTTACATAAATGTTTAT ATAAAATATATTTACATAAATA	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44126168	G G	GAGGGAGG others(41): Show GAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0122 a0001c0001t0060g0122	1	188	0.0053	48	c.117 others(67): Show c.1170-7546_1170-7545insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTCCCTCCCTCCCTCCCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	514226	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02280.hp1 others(3): Show HG01884.hp1 HG02257.hp2 HG02280.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1	a0004 a0009 a0010 a0004 a0009 a0010	a0004c0020 a0009c0006 a0010c0013 a0004c0020 a0009c0006 a0010c0013	a0004c0020t0001 a0004c0020t0007 a0009c0006t0002 others(1): Show a0004c0020t0001 a0004c0020t0007 a0009c0006t0002 a0010c0013t0001	a0004c0020t0001g0069 a0004c0020t0007g0070 a0009c0006t0002g0061 others(3): Show a0004c0020t0001g0069 a0004c0020t0007g0070 a0009c0006t0002g0061 a0009c0006t0002g0067 a0010c0013t0001g0065 a0010c0013t0001g0066	6	251	0.0239	48	c.-84 others(65): Show c.-84+9475_-84+9476insTCCTTCCTCCCTCCCTCCCTCCCTTCCT CTCTCCCTCCCTCCCTTCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KAT2B_chr3_20035446_20159404	20062104	A A	ATATATAT others(41): Show ATATATATTATATATAAAACATATAATATATATTATATATAAAACATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0013 a0001c0002t0005g0013	1	293	0.0034	48	c.304 others(67): Show c.304-10216_304-10215insTAAAACATATAATATATATTATATAT AAAACATATTATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20062104	A A	ATATATAT others(41): Show ATATATATTATATATAAAACATATTATATATATTATATATAAAACATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00609.hp1 others(46): Show HG00099.hp1 HG00408.hp1 HG00609.hp1 HG00673.hp2 HG01069.hp1 HG01099.hp1 HG01433.hp1 HG01928.hp1 HG02004.hp1 HG02056.hp1 HG02165.hp1 HG02647.hp2 HG02976.hp2 HG03225.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18940.hp2 NA18942.hp1 NA18947.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19030.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0003 a0001c0001 a0001c0013 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0013t0002 a0002c0003t0003	a0001c0001t0001g0160 a0001c0001t0001g0311 a0001c0001t0002g0036 others(46): Show a0001c0001t0001g0160 a0001c0001t0001g0311 a0001c0001t0002g0036 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0152 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0265 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0335 a0001c0001t0002g0358 a0001c0001t0003g0200 a0001c0001t0005g0140 a0001c0001t0009g0093 a0001c0001t0009g0297 a0001c0001t0013g0048 a0001c0001t0014g0295 a0001c0013t0002g0231 a0002c0003t0003g0033	49	341	0.1437	48	c.304 others(67): Show c.304-10216_304-10215insTAAAACATATTATATATATTATATAT AAAACATATTATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNBL1_chr15_34135674_34215096	34181582	A A	ACATATAT others(41): Show ACATATATATACACATATATATGTCCATATATATACACATATATATGTC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0228 a0001c0001t0001g0229	2	139	0.0144	48	c.-14 others(67): Show c.-14-17940_-14-17893dupGACATATATATGTGTATATATATGGA CATATATATGTGTATATATATG	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34181618	A A	ACATATAT others(41): Show ACATATATATGTCCATATATATACACATATATATGTCCATATATATATC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	338	0.0030	48	c.-14 others(67): Show c.-14-17976_-14-17929dupGATATATATATGGACATATATATGTG TATATATATGGACATATATATG	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14883333	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	145	0.0069	48	c.227 others(67): Show c.227-77341_227-77340insGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGAGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883337	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0063 a0001c0001t0004g0063	1	144	0.0069	48	c.227 others(67): Show c.227-77341_227-77340insGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(41): Show AGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0093 a0001c0001t0025g0093	1	132	0.0076	48	c.227 others(67): Show c.227-77341_227-77340insGAGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(41): Show GCCGCCCCCGCCGCCCCCGCCCCCGCCCCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18962.hp2 NA18994.hp2 others(2): Show NA18956.hp1 NA18962.hp2 NA18994.hp2 NA19002.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	5	371	0.0135	48	c.-69 others(57): Show c.-691_-690insGGGCGGGGGCGGCGGGGGCGGGGGCGGGGGCGGGGG CGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891887	G G	GCCGCCCC others(41): Show GCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20300.hp1 HG02486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	368	0.0054	48	c.-69 others(57): Show c.-691_-690insGGGCGGGGGCGGCGGGGGCGGCGGGGGCGGCGGGGG CGGCGGGGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		128		chr7	TogoVar
KBTBD2_chr7_32863172_32896760	32891893	C C	CCCGCCGC others(41): Show CCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCGCCGCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	422	0.0024	48	c.-69 others(57): Show c.-697_-696insCGGGGGCGGCGGGGGCGGCGGGGGCGGCGGGGGCGG CGGGGGCGGCGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		134		chr7	TogoVar
KCNB2_chr8_72532225_72943349	72920455	A A	ATATATAT others(41): Show ATATATATATATATATATGTGTGTGTGTATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	155	0.0065	48	c.580 others(67): Show c.580-15479_580-15478insATATATATATATATATGTGTGTGTGT ATATATATATATATATATGTGT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNH5_chr14_62694464_63050458	62853453	A A	AATCATAT others(41): Show AATCATATATATATATATATATATATCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	208	0.0048	48	c.137 others(67): Show c.1370-3602_1370-3601insATATATATATATATATATATATGATA TATATATATATATATATATGAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNH5_chr14_62694464_63050458	62853458	T T	TATATATA others(41): Show TATATATATATATATATATATATATATCATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02622.hp2 HG02886.hp2 others(1): Show HG02451.hp2 HG02622.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0030 a0001c0001t0005 a0001c0001t0009 a0001c0001t0030	a0001c0001t0005g0060 a0001c0001t0009g0096 a0001c0001t0009g0150 others(1): Show a0001c0001t0005g0060 a0001c0001t0009g0096 a0001c0001t0009g0150 a0001c0001t0030g0095	4	157	0.0255	48	c.137 others(67): Show c.1370-3607_1370-3606insCATATATATATATATATATATGATAT ATATATATATATATATATATAT	KCNH5	ENSG00000140015.20	transcript	ENST00000322893.12	protein_coding	7/10			chr14	TogoVar
KCNIP4_chr4_20723606_21953772	21226354	A A	AGAAGGAA others(41): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0045 a0001c0001t0012g0045	1	31	0.0323	48	c.62- others(67): Show c.62-343646_62-343645insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21233999	A A	AATATATA others(41): Show AATATATAACATATATAACATATATAACACATAACATATATAACATAAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03041.hp2 NA19030.hp2 HG01106.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0002t0006 a0001c0001t0003 a0001c0002t0004 a0001c0002t0006	a0001c0001t0003g0080 a0001c0002t0004g0028 a0001c0002t0006g0019 a0001c0001t0003g0080 a0001c0002t0004g0028 a0001c0002t0006g0019	3	80	0.0375	48	c.62- others(67): Show c.62-351291_62-351290insGTTATGTTATATATGTTATGTGTTAT ATATGTTATATATGTTATATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21234077	C C	CATATAAC others(41): Show CATATAACGTATATTATATATAACATATAACGTATATTATATATAACAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	46	0.0217	48	c.62- others(67): Show c.62-351369_62-351368insATGTTATATATAATATACGTTATATG TTATATATAATATACGTTATAT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNJ10_chr1_160032467_160075160	160049675	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0012 a0001c0001t0019g0012	1	132	0.0076	48	c.1-7 others(61): Show c.1-7144_1-7143insTAAATATATATATATATATATATATATATATA TATATATATATATATA	KCNJ10	ENSG00000177807.10	transcript	ENST00000644903.1	protein_coding	1/1			chr1	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CTCATATA others(41): Show CTCATATACCATATCATATGGTATATCATATACCATATCATATGGTATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 NA18522.hp2 HG02559.hp1 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0031 a0001c0001t0063 a0001c0001t0001 a0001c0001t0031 a0001c0001t0063	a0001c0001t0001g0282 a0001c0001t0031g0283 a0001c0001t0063g0281 a0001c0001t0001g0282 a0001c0001t0031g0283 a0001c0001t0063g0281	3	259	0.0116	48	c.52+ others(65): Show c.52+12591_52+12592insTATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGA	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310157	C C	CATATACC others(41): Show CATATACCATATCATATGGTATATGATATACCATATCATATGGTATATG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01123.hp1 HG02129.hp2 others(3): Show HG00673.hp2 HG01123.hp1 HG02129.hp2 HG03516.hp1 NA19002.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0034 a0001c0002t0008 a0001c0002t0030	a0001c0001t0005g0320 a0001c0001t0007g0280 a0001c0001t0011g0322 others(3): Show a0001c0001t0005g0320 a0001c0001t0007g0280 a0001c0001t0011g0322 a0001c0001t0034g0323 a0001c0002t0008g0324 a0001c0002t0030g0321	6	271	0.0221	48	c.52+ others(65): Show c.52+12542_52+12589dupCATATACCATATGATATGGTATATCATA TACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar

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