Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
HIGD1C_chr12_50947544_50975607	50948931	G G	GGGAGGGG others(91): Show GGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	218	0.0046	98	c.-38 others(109): Show c.-3848_-3847insGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGA	HIGD1C	ENSG00000214511.4	transcript	ENST00000695931.1	protein_coding		3612		chr12	TogoVar
HIKESHI_chr11_86297240_86350943	86307382	A A	AAATATAT others(91): Show AAATATATATTATGTGTAGTATACATTATATATCAAATATATATTATGTG TAGTATACATTATATATCAAATATGTGTAGTATACATTATATATCAAAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	117	0.0085	98	c.268 others(113): Show c.268+901_268+902insATATATATTATGTGTAGTATACATTATATA TCAAATATATATTATGTGTAGTATACATTATATATCAAATATGTGTAGTA TACATTATATATCAAATA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIVEP1_chr6_12007312_12169999	12167581	C C	CATGTTAT others(91): Show CATGTTATATTACATGTATATATACATGTTATATTACATGTATATATACA TGTTATATTACATGTATATATACATGTTATATTACATGTATATATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA18522.hp1 NA18947.hp1 others(4): Show HG02132.hp1 NA18522.hp1 NA18947.hp1 NA18966.hp2 NA18977.hp1 NA18980.hp1 NA19083.hp1	a0001 a0002 a0031 a0001 a0002 a0031	a0001c0001 a0002c0011 a0031c0030 a0001c0001 a0002c0011 a0031c0030	a0001c0001t0001 a0002c0011t0001 a0031c0030t0001 a0001c0001t0001 a0002c0011t0001 a0031c0030t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0124 a0001c0001t0001g0125 a0002c0011t0001g0236 a0031c0030t0001g0198	7	10	0.7000	98	c.31 others(109): Show c.3120_*3121insATGTTATATTACATGTATATATACATGTTATATT ACATGTATATATACATGTTATATTACATGTATATATACATGTTATATTAC ATGTATATATACAT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		2583		chr6	TogoVar
HMOX1_chr22_35376096_35399207	35389387	C C	CCCTCCCT others(91): Show CCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	356	0.0028	98	c.637 others(113): Show c.637-476_637-475insCTCCCTCCCTCCCTCCCTCCCTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCTTCTTTCTTTCTTTC	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HS3ST3B1_chr17_14296081_14354404	14313102	G G	GTGTGTGT others(91): Show GTGTGTGTATATATATATATACATATATATATATATGTGTGTATATATAT ATATACATATATATATATGTGTGTATATATATATATATACATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0207 a0001c0001t0075g0207	1	413	0.0024	98	c.554 others(117): Show c.554+11050_554+11051insCATATATATATATATGTGTGTATATA TATATATACATATATATATATGTGTGTATATATATATATATACATATATA TATGTGTGTATATATATATATA	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr17	TogoVar
HSD17B11_chr4_87331515_87396188	87378935	T T	TATATAAA others(91): Show TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TATAAATATATATAAATATATATAAATATATATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19010.hp2 NA19081.hp2 NA18971.hp2 NA19010.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0230 a0001c0001t0001g0012 a0001c0001t0001g0230	3	378	0.0079	98	c.318 others(115): Show c.318+3319_318+3320insTTATATATATTTATATATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATAT	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
IFITM10_chr11_1727406_1755595	1754348	T T	TGAGGGGC others(91): Show TGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGG GGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(30): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01928.hp2 HG01981.hp1 HG02004.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp2 HG02602.hp1 HG02622.hp1 HG02738.hp1 HG03688.hp1 HG04184.hp1 NA18747.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18966.hp2 NA18975.hp1 NA18978.hp2 NA18986.hp1 NA18987.hp2 NA19005.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp1 NA19081.hp2 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0033 others(13): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0006g0013 a0001c0001t0010g0177	33	398	0.0829	98	c.-39 others(109): Show c.-3907_-3906insCATCCCTTCATCCCCTCCATCCCCTCCATCCCTC TATGCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATC CCTCCATGCCCCTC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3754		chr11	TogoVar
IFNGR1_chr6_137192485_137224385	137199489	A A	ATATAAAA others(91): Show ATATAAAATATAATTTATAATATATAATATATAATATATAATATATAATA TATAATATATAATATATAATTTATTATATATTATATATAATATATAATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	388	0.0026	98	c.862 others(113): Show c.862-851_862-850insAATTATATATTATATATAATATATAATAAA TTATATATTATATATTATATATTATATATTATATATTATATATTATATAT TATAAATTATATTTTATA	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199517	A A	ATATTATA others(91): Show ATATTATATATTATATATAATATATTATATATTATATATAATATATAATT TATAATATATTATATATAATATATTATATATTATATATAATATATAATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	385	0.0026	98	c.862 others(113): Show c.862-879_862-878insAATTATATATTATATATAATATATAATATA TTATATATAATATATTATAAATTATATATTATATATAATATATAATATAT TATATATAATATATAATA	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(91): Show AATATATAATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19007.hp1 HG02056.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	9	0.2222	98	c.862 others(113): Show c.862-890_862-889insAATATATTATATATTATATATAATATATTA TAAATTATATATTATATATAATATATAATATATTATATATTATATATAAT ATATAATATATTATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(91): Show AATATATAATATATTATATATTATATATAATATATAATTTATAATATATT ATATATAATATATTATATATTATATATAATATATAATTTATTATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp1 others(1): Show HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 others(1): Show a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096	4	11	0.3636	98	c.862 others(113): Show c.862-890_862-889insAATATATAATAAATTATATATTATATATAA TATATAATATATTATATATAATATATTATAAATTATATATTATATATAAT ATATAATATATTATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATA others(91): Show AATATATAATATATTATATATTATATATAATATATTATATATTATATATA ATATATAATTTATAATATATTATATATAATATATAATATATTATATATT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	8	0.1250	98	c.862 others(113): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATAAT ATATAATATATTATATAT	IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6			chr6	TogoVar
IFT140_chr16_1505427_1617072	1599611	C C	CCCCCCCG others(91): Show CCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02055.hp2 HG00099.hp2 HG02055.hp2	a0003 a0007 a0003 a0007	a0003c0005 a0007c0060 a0003c0005 a0007c0060	a0003c0005t0003 a0007c0060t0001 a0003c0005t0003 a0007c0060t0001	a0003c0005t0003g0148 a0007c0060t0001g0195 a0003c0005t0003g0148 a0007c0060t0001g0195	2	332	0.0060	98	c.369 others(115): Show c.369+2758_369+2759insCCGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599650	G G	GGGGGTGT others(91): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02738.hp2 HG03927.hp2 HG01081.hp1 HG02738.hp2 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0031 a0001c0002 a0003c0031	a0001c0002t0001 a0003c0031t0009 a0001c0002t0001 a0003c0031t0009	a0001c0002t0001g0071 a0001c0002t0001g0224 a0003c0031t0009g0140 a0001c0002t0001g0071 a0001c0002t0001g0224 a0003c0031t0009g0140	3	201	0.0149	98	c.369 others(115): Show c.369+2719_369+2720insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599650	G G	GGGGGTGT others(91): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	199	0.0050	98	c.369 others(115): Show c.369+2719_369+2720insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599650	G G	GGGGGTGT others(91): Show GGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGAGGT GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	199	0.0050	98	c.369 others(115): Show c.369+2719_369+2720insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599690	G G	GGGAGGGA others(91): Show GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCATCCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02080.hp2 others(3): Show HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02258.hp2 HG02630.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0014 others(1): Show a0001c0002 a0001c0004 a0001c0014 a0001c0057	a0001c0002t0001 a0001c0004t0001 a0001c0014t0003 others(1): Show a0001c0002t0001 a0001c0004t0001 a0001c0014t0003 a0001c0057t0003	a0001c0002t0001g0073 a0001c0002t0001g0096 a0001c0002t0001g0207 others(3): Show a0001c0002t0001g0073 a0001c0002t0001g0096 a0001c0002t0001g0207 a0001c0004t0001g0084 a0001c0014t0003g0102 a0001c0057t0003g0214	6	190	0.0316	98	c.369 others(115): Show c.369+2679_369+2680insTGGATGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599690	G G	GGGAGGGA others(91): Show GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCGGCCCGGCCAGCCGCCCCATCCA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA19066.hp2 HG03017.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0143 a0003c0005t0001g0147 a0003c0005t0001g0143 a0003c0005t0001g0147	2	186	0.0108	98	c.369 others(115): Show c.369+2679_369+2680insTGGATGGGGCGGCTGGCCGGGCCGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IL13RA1_chrX_118722606_118799533	118784108	T T	TATATATA others(91): Show TATATATATATATATATATACGTATATATGTATATATACGTATATATATA TATATATATATACGTATATATGTATATATACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	233	0.0043	98	c.119 others(117): Show c.1191+7598_1191+7599insTATATATATATATATATACGTATATA TGTATATATACGTATATATATATATATATATATACGTATATATGTATATA TACGTATATATATATATATACA	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL17RA_chr22_17080000_17120693	17094665	C C	CTATATAT others(91): Show CTATATATATATATATATATGTGTATATATATATATATATATATATATAT ATGTGTATATATATATATATATATATATATATATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0066 a0002c0003t0066	a0002c0003t0066g0313 a0002c0003t0066g0313	1	392	0.0026	98	c.139 others(115): Show c.139-2396_139-2395insATATATATATATATATATGTGTATATAT ATATATATATATATATATATATGTGTATATATATATATATATATATATAT ATATGTGTATATATATATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RD_chr3_57084982_57170353	57127283	T T	TAAATATA others(91): Show TAAATATATATAAAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATATAAAAAAATATATAAATATATATAAAAATATATAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01099.hp2 others(1): Show HG00099.hp1 HG00639.hp1 HG01099.hp2 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0264 a0002c0004t0008g0298 a0002c0004t0008g0321 others(1): Show a0002c0004t0008g0264 a0002c0004t0008g0298 a0002c0004t0008g0321 a0002c0004t0008g0322	4	350	0.0114	98	c.127 others(115): Show c.127-6971_127-6970insTTATATATTTTTATATATATTTATATAT TTTTTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATTTTTATATATATTT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	1/12			chr3	TogoVar
IL3RA_chrX_1331785_1387689	1360866	T T	TTCTTCCC others(91): Show TTCTTCCCCTCTCAGTCTCATCTCCAGCTCCCGGAAGCCACGCAACCCCT CTTCTCACCCTACTACAACCCTGAACCCCACTCATCTCATCTAACTCTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	113	0.0088	98	c.759 others(115): Show c.759+1979_759+1980insTCTTCCCCTCTCAGTCTCATCTCCAGCT CCCGGAAGCCACGCAACCCCTCTTCTCACCCTACTACAACCCTGAACCCC ACTCATCTCATCTAACTCTC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11			chrX	TogoVar
IMMP2L_chr7_110657644_111567492	110844693	T T	TAGCGCAC others(91): Show TAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATATACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	39	0.0256	98	c.408 others(117): Show c.408+41899_408+41900insTTCTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTATATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	110844693	T T	TAGCGCAC others(91): Show TAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATG TGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01071.hp1 HG01123.hp2 others(28): Show HG00438.hp2 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03540.hp2 HG03942.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(28): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0002g0050 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0004g0043 a0001c0001t0004g0061 a0001c0001t0006g0042 a0001c0001t0006g0059 a0001c0001t0007g0069 a0001c0001t0007g0070 a0001c0001t0011g0002 a0001c0001t0011g0025 a0002c0003t0002g0051	31	69	0.4493	98	c.408 others(117): Show c.408+41899_408+41900insTTCTTTTTTTTTTTTTTTATTATACT CTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTAT ACATGTGCCATGCTGGTGCGCT	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5			chr7	TogoVar
INVS_chr9_100094243_100307175	100299554	C C	CAACACAC others(91): Show CAACACACACACACACACACACACACACACACACACACACACACACACAC AGCCTTGCAAACCACCCACCAAGAATCTCAGCAGAGCCTTTTATTGACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0006	1	177	0.0056	98	c.309 others(115): Show c.3092-978_3092-977insCACACACACACACAGCCTTGCAAACCAC CCACCAAGAATCTCAGCAGAGCCTTTTATTGACAAACACACACACACACA CACACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IQCA1_chr2_236319151_236512476	236459555	G G	GTGTATAC others(91): Show GTGTATACATACGTATATACGTATACGTATACATGTATACGTATATACGT ATATACGTACGTATATACGTATATACGTACGTATATACGTATATACGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	203	0.0049	98	c.926 others(115): Show c.926+5949_926+5950insTACGTATATACGTATATACGTACGTATA TACGTATATACGTACGTATATACGTATATACGTATACATGTATACGTATA CGTATATACGTATGTATACA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCG_chr3_197884077_197964991	197887731	T T	TGGGGCTG others(91): Show TGGGGCTGAGAGCCCCCCAGCAGAGCCCTTCCCATCACTGACAGTGTTGG GGGCTGAGAGCCCCCCCTAGCAGAGCCCTTCCCATCACTGACAGTGTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02922.hp1 others(1): Show HG02559.hp2 HG02630.hp2 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0004t0001g0050 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0004t0001g0050 a0001c0004t0001g0122	4	221	0.0181	98	c.18 others(109): Show c.1848_*1849insCAACACTGTCAGTGATGGGAAGGGCTCTGCTAGG GGGGGCTCTCAGCCCCCAACACTGTCAGTGATGGGAAGGGCTCTGCTGGG GGGCTCTCAGCCCC	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1345		chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76699619	C C	CTCTCTCT others(91): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTG CTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02602.hp2 HG02523.hp2 HG02602.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0026 a0001c0002 a0003c0026	a0001c0002t0008 a0003c0026t0008 a0001c0002t0008 a0003c0026t0008	a0001c0002t0008g0059 a0003c0026t0008g0023 a0001c0002t0008g0059 a0003c0026t0008g0023	2	214	0.0093	98	c.436 others(117): Show c.4368-1417_4368-1416insACTCTCGTGCTCTCTCTCTCTCCATA TATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(91): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCT CTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTTTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0206 a0002c0001t0004g0206	1	78	0.0128	98	c.436 others(117): Show c.4368-1339_4368-1338insTCTCTCTCTCTCTCTCTCACTCTCGT GCTCTCTCTCTCTCCATATATAGTTCATTTGCTTCAGGCTTCTCTCTGTT TCTCTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRS2_chr13_109747695_109791583	109766684	A A	ACATGTAG others(91): Show ACATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(60): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01978.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp2 HG02602.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19010.hp2 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0013 a0002c0002 a0002c0011 a0003c0010 a0007c0019	a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 others(12): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0003t0003 a0001c0005t0003 a0001c0013t0003 a0002c0002t0003 a0002c0011t0014 a0003c0010t0003 a0007c0019t0003	a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 others(44): Show a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0023 a0001c0001t0003g0063 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0080 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0121 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0073 a0001c0001t0005g0075 a0001c0001t0005g0081 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0005g0092 a0001c0001t0005g0096 a0001c0001t0014g0079 a0001c0001t0014g0095 a0001c0001t0018g0009 a0001c0001t0018g0072 a0001c0001t0025g0087 a0001c0001t0025g0094 a0001c0001t0043g0071 a0001c0001t0044g0085 a0001c0001t0045g0102 a0001c0003t0003g0135 a0001c0005t0003g0169 a0001c0005t0003g0175 a0001c0013t0003g0037 a0002c0002t0003g0230 a0002c0011t0014g0019 a0002c0011t0014g0057 a0003c0010t0003g0058 a0003c0010t0003g0060 a0003c0010t0003g0061 a0007c0019t0003g0167	63	137	0.4599	98	c.401 others(119): Show c.4013-10474_4013-10377dupCTTGGTGGGGAGTTGGAGTCAGGG TGGATGAGGCTGGGATATCTACATGCTTGGTGGGGAGTCGGAGCCAGGGT GGATGAGGCTGGGATATCTACATG	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109766712	C C	CTGGCTCC others(91): Show CTGGCTCCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCC TGACTCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02723.hp2 others(1): Show HG02257.hp2 HG02280.hp1 HG02723.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0024 a0001c0026 a0001c0004 a0001c0024 a0001c0026	a0001c0004t0008 a0001c0024t0047 a0001c0026t0008 a0001c0004t0008 a0001c0024t0047 a0001c0026t0008	a0001c0004t0008g0252 a0001c0004t0008g0253 a0001c0024t0047g0280 others(1): Show a0001c0004t0008g0252 a0001c0004t0008g0253 a0001c0024t0047g0280 a0001c0026t0008g0282	4	256	0.0156	98	c.401 others(119): Show c.4013-10502_4013-10405dupAGGTGGATGAGGCTGGGATATCTA CATGCTTGGTGGGGAGTTGGAGTCAGGGTGGATGAGGCTGGGATATCTAC ATGCTTGGTGGGGAGTCGGAGCCA	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(91): Show CATATATATATATATATATATATATATATATATATATATACACACACATA CATATATATATATATATACATACATATATATATATATATACACATACAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp2 HG01433.hp2 HG00639.hp2 HG01106.hp2 HG01433.hp2	a0001 a0001	a0001c0013 a0001c0025 a0001c0013 a0001c0025	a0001c0013t0022 a0001c0025t0051 a0001c0013t0022 a0001c0025t0051	a0001c0013t0022g0122 a0001c0013t0022g0131 a0001c0025t0051g0133 a0001c0013t0022g0122 a0001c0013t0022g0131 a0001c0025t0051g0133	3	25	0.1200	98	c.163 others(117): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTATATATATATATATATGTATGTGTGTGTATATATATATATATAT ATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26775933	C C	CATATATA others(91): Show CATATATATATATATATATATATATATATATATATATATATACACACATA CATATATATATATATATACATACATATATATATATATATACACATACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01361.hp1 HG00323.hp2 HG01081.hp1 HG01361.hp1	a0001 a0001	a0001c0025 a0001c0057 a0001c0065 a0001c0025 a0001c0057 a0001c0065	a0001c0025t0024 a0001c0057t0002 a0001c0065t0024 a0001c0025t0024 a0001c0057t0002 a0001c0065t0024	a0001c0025t0024g0139 a0001c0057t0002g0061 a0001c0065t0024g0141 a0001c0025t0024g0139 a0001c0057t0002g0061 a0001c0065t0024g0141	3	25	0.1200	98	c.163 others(117): Show c.163+14223_163+14224insATGTATGTGTATATATATATATATAT GTATGTATATATATATATATATGTATGTGTGTATATATATATATATATAT ATATATATATATATATATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
JPH1_chr8_74229700_74326540	74258461	T T	TCTAACTT others(91): Show TCTAACTTGGTATACAAATAAATGACCTCACTATGGTCTGAGAGTGATGA CAAGTTCTGTTTTAGACAAGTAGGATTTTACATGACATAGGCATCTGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	328	0.0030	98	c.125 others(115): Show c.1258+923_1258+924insTACAGATGCCTATGTCATGTAAAATCCT ACTTGTCTAAAACAGAACTTGTCATCACTCTCAGACCATAGTGAGGTCAT TTATTTGTATACCAAGTTAG	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	3/5			chr8	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(91): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(23): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00621.hp2 HG00741.hp1 HG01069.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01891.hp2 HG02027.hp2 HG02165.hp1 HG02523.hp2 HG02698.hp1 HG03139.hp2 HG03471.hp1 NA18612.hp1 NA18967.hp1 NA18970.hp2 NA18978.hp1 NA18979.hp2 NA19043.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0034 a0001c0037 a0002c0015	a0001c0001t0001 a0001c0001t0028 a0001c0003t0001 others(12): Show a0001c0001t0001 a0001c0001t0028 a0001c0003t0001 a0001c0004t0001 a0001c0004t0040 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0007t0018 a0001c0009t0001 a0001c0009t0011 a0001c0034t0001 a0001c0037t0001 a0002c0015t0001 a0002c0015t0009	a0001c0001t0001g0033 a0001c0001t0028g0024 a0001c0003t0001g0343 others(23): Show a0001c0001t0001g0033 a0001c0001t0028g0024 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0004t0001g0072 a0001c0004t0001g0101 a0001c0004t0001g0102 a0001c0004t0001g0118 a0001c0004t0001g0132 a0001c0004t0001g0172 a0001c0004t0001g0179 a0001c0004t0001g0256 a0001c0004t0001g0317 a0001c0004t0040g0272 a0001c0005t0001g0001 a0001c0005t0001g0014 a0001c0005t0007g0056 a0001c0006t0001g0045 a0001c0007t0018g0375 a0001c0009t0001g0062 a0001c0009t0001g0252 a0001c0009t0011g0374 a0001c0034t0001g0025 a0001c0037t0001g0326 a0002c0015t0001g0030 a0002c0015t0009g0181	26	118	0.2203	98	c.382 others(117): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCCTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGCCC others(91): Show ACAGGCCCCTGTATACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCTTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0053 a0001c0004t0001g0053	1	93	0.0108	98	c.382 others(117): Show c.382+10744_382+10745insCCCCTGTATACAGGAGGAGCTGTGCG TCCCCTCCAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGT CCCTTCCAAGGATAAAGGCAGG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614268	A A	ACAGGTCC others(91): Show ACAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG CAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCAAGGATAAAGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0048 a0001c0010t0003g0048	1	93	0.0108	98	c.382 others(117): Show c.382+10801_382+10898dupACACAGGAGGAGCTGTGCGTCCCCTC CAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCC AAGGATAAAGGCAGGTCCCTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614405	A A	AAGGATAA others(91): Show AAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCA AGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00733.hp1 others(16): Show HG00323.hp2 HG00408.hp1 HG00733.hp1 HG00735.hp1 HG01071.hp2 HG01106.hp1 HG01433.hp2 HG01993.hp2 HG02055.hp2 HG03834.hp2 NA18747.hp1 NA18960.hp1 NA18965.hp1 NA18969.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp2 NA19064.hp1 NA19065.hp2	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0009 a0001c0046 a0004c0042 a0013c0040	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0007 a0001c0009t0001 a0001c0046t0001 a0004c0042t0001 a0013c0040t0006	a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0050 others(16): Show a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0050 a0001c0001t0001g0292 a0001c0002t0001g0106 a0001c0004t0001g0035 a0001c0004t0001g0055 a0001c0004t0001g0057 a0001c0004t0001g0316 a0001c0004t0004g0285 a0001c0005t0001g0001 a0001c0005t0001g0058 a0001c0005t0001g0060 a0001c0005t0001g0073 a0001c0005t0007g0032 a0001c0009t0001g0061 a0001c0046t0001g0148 a0004c0042t0001g0059 a0013c0040t0006g0156	19	228	0.0833	98	c.382 others(117): Show c.382+10898_382+10899insACACAGGAGGAGCTGTGCGTCCCCTC CAAGGATAAAGGCAGGTCCCTGTACACAGGAGGAGCTGTGCGTCCCCTCC CAGGATAAAGGCAGGTCCCTGT	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAT2B_chr3_20035446_20159404	20062025	C C	CATAATAT others(91): Show CATAATATATATTATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18953.hp1 NA18989.hp2 HG02015.hp1 NA18953.hp1 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0131 a0002c0003t0003g0246 a0002c0003t0003g0247 a0002c0003t0003g0131 a0002c0003t0003g0246 a0002c0003t0003g0247	3	199	0.0151	98	c.304 others(117): Show c.304-10291_304-10290insAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20062100	T T	TATAATAT others(91): Show TATAATATATATTATATATAAAACATATAATATATATTATATATAAAACA TATAATATATATTATATATAAAACATATAATATATATTATATATAAAAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	369	0.0054	98	c.304 others(117): Show c.304-10216_304-10215insTAAAACATATAATATATATTATATAT AAAACATATAATATATATTATATATAAAACATATAATATATATTATATAT AAAACATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNH1_chr1_210673314_211139148	210718413	A A	AATACATA others(91): Show AATACATAAATATATGCATATATTTAATGCATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02258.hp1 HG01074.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0114 a0001c0001t0005g0020 a0001c0001t0004g0114 a0001c0001t0005g0020	2	90	0.0222	98	c.211 others(119): Show c.2113-34276_2113-34275insAATATATGCATATATTTATGTATT AAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCATT AAATATATGCATATATTTATGTAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718413	A A	AATGCATA others(91): Show AATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATATTT AATACATAAATATATGCATATATTTAATACATAAATATATGCATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp2 HG02559.hp1 others(5): Show HG00140.hp2 HG00597.hp2 HG02559.hp1 HG02976.hp2 HG03491.hp1 NA18961.hp2 NA19030.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0009t0001	a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0004g0032 others(5): Show a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0004g0032 a0001c0001t0004g0070 a0001c0001t0010g0138 a0001c0001t0018g0087 a0001c0001t0028g0052 a0001c0009t0001g0125	8	96	0.0833	98	c.211 others(119): Show c.2113-34276_2113-34275insAATATATGCATATATTTATGTATT AAATATATGCATATATTTATGTATTAAATATATGCATATATTTATGCATT AAATATATGCATATATTTATGCAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNH1_chr1_210673314_211139148	210718413	A A	AATGCATA others(91): Show AATGCATAAATATATGCATATATTTAATGCATAAATATATGCATATATTT AATGCATAAATATATGCATATATTTAATACATAAATATATGCATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	89	0.0112	98	c.211 others(119): Show c.2113-34276_2113-34275insAATATATGCATATATTTATGTATT AAATATATGCATATATTTATGCATTAAATATATGCATATATTTATGCATT AAATATATGCATATATTTATGCAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(91): Show CATATATATATATATATATATATATATATATATATATATATATATATACA TATATATATATATATATATATATATATATATATATATACATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0170 a0001c0001t0044g0170	1	21	0.0476	98	c.85 others(109): Show c.8568_*8569insATATATATATGTATATATATATATATATATATAT ATATATATATATATATGTATATATATATATATATATATATATATATATAT ATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37757043	T T	TGGTTCCA others(91): Show TGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATTCCAGCCCGGAGTGAG CACTCCCTCACAGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02647.hp1 HG02818.hp2 others(2): Show HG01106.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0066 a0001c0001t0097 a0001c0001t0174 others(2): Show a0001c0001t0066 a0001c0001t0097 a0001c0001t0174 a0001c0002t0162 a0001c0002t0163	a0001c0001t0066g0149 a0001c0001t0097g0138 a0001c0001t0174g0134 others(2): Show a0001c0001t0066g0149 a0001c0001t0097g0138 a0001c0001t0174g0134 a0001c0002t0162g0162 a0001c0002t0163g0154	5	118	0.0424	98	c.26- others(115): Show c.26-41913_26-41912insTGTGAGGGAGTGCTCACTTGGGCTGGAA CCATCATGCTGTGAGGGAGTGCTCACTCCGGGCTGGAATCTGTGAGGGAG TGCTCACTTGGGCTGGAACC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNK1_chr1_233609106_233677514	233672619	A A	ATATGTAT others(91): Show ATATGTATGTATATATATACATATGTATATATATGTATGTATATATATAC ATATGTATATATATATATGTGTATATATATATATACGTATATATATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	417	0.0024	98	c.10 others(109): Show c.1089_*1090insTATGTATGTATATATATACATATGTATATATATG TATGTATATATATACATATGTATATATATATATGTGTATATATATATATA CGTATATATATGTG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		106		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672635	A A	ATATACAT others(91): Show ATATACATATGTATATATATGTATGTATATATATACATATGTATATATAT ATGTGTATATATATATACGTATATATATGTGTATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	366	0.0027	98	c.11 others(109): Show c.1105_*1106insTATACATATGTATATATATGTATGTATATATATA CATATGTATATATATATGTGTATATATATATACGTATATATATGTGTATA TATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		122		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(91): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATACGTATATATATGTGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp2 HG01261.hp2 others(3): Show HG00738.hp2 HG01255.hp2 HG01261.hp2 HG02056.hp2 HG02083.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0210 a0001c0001t0002g0222 a0001c0001t0002g0252 others(3): Show a0001c0001t0002g0210 a0001c0001t0002g0222 a0001c0001t0002g0252 a0001c0001t0002g0273 a0001c0001t0003g0054 a0001c0001t0003g0072	6	314	0.0191	98	c.11 others(109): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATACGTATATATATGTGTA TATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(91): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT ATGTGTATATATATATATATACGTATATATATGTGTATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	309	0.0032	98	c.11 others(109): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATATGTGTATATATATATATATACGTATATATATGTG TATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233672637	A A	ATACATAT others(91): Show ATACATATGTATATATATGTATGTATATATATACATATGTATATATATAT GTGTATATATATATATATACGTATATATATGTGTATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01496.hp1 HG01934.hp2 others(8): Show HG00558.hp1 HG01496.hp1 HG01934.hp2 HG02074.hp2 NA18943.hp2 NA18969.hp2 NA18980.hp1 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0020 a0001c0001t0001g0385 a0001c0001t0001g0389 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0385 a0001c0001t0001g0389 a0001c0001t0001g0395 a0001c0001t0001g0400 a0001c0001t0002g0220 a0001c0001t0002g0240 a0001c0001t0002g0294 a0001c0001t0003g0068 a0001c0001t0003g0073 a0001c0001t0003g0086	11	319	0.0345	98	c.11 others(109): Show c.1107_*1108insTACATATGTATATATATGTATGTATATATATACA TATGTATATATATATGTGTATATATATATATATACGTATATATATGTGTA TATATATATATACG	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		124		chr1	TogoVar

Search by Variant

Search

Search Results