Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ITCH_chr20_34358273_34516773	34462307	A A	AGTCTTAG others(31): Show AGTCTTAGTATTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0014 a0001c0004t0009 a0001c0001t0014 a0001c0004t0009	a0001c0001t0014g0291 a0001c0004t0009g0294 a0001c0001t0014g0291 a0001c0004t0009g0294	2	294	0.0068	38	c.142 others(55): Show c.1424+101_1424+102insTTTTTTTTTTTTTTTTTTTTTTTGTCTT AGTATTTCTT	ITCH	ENSG00000078747.17	transcript	ENST00000374864.10	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
ITGA10_chr1_145886208_145915050	145909622	A A	ATGTTACA others(31): Show ATGTTACATATTATATGTATATTATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	390	0.0026	38	c.52+ others(51): Show c.52+340_52+341insATTATATATTATATATAATATACATATAATAT GTAACA	ITGA10	ENSG00000143127.13	transcript	ENST00000369304.8	protein_coding	1/29			chr1	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACACA others(31): Show CACACACACACATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0192 a0003c0005t0003g0192	1	322	0.0031	38	c.10 others(51): Show c.10304_*10305insACACACACACATATATATATATATATATATAT ATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA1_chr5_52782916_52964209	52962755	C C	CACACACA others(31): Show CACACACACATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0291 a0001c0002t0029g0291	1	322	0.0031	38	c.10 others(51): Show c.10304_*10305insACACACACATATATATATATATATATATATAT ATATAT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding		3547		chr5	TogoVar
ITGA8_chr10_15508954_15724922	15561227	A A	ATATATAT others(31): Show ATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0028 a0002c0002t0013g0028	1	220	0.0046	38	c.263 others(57): Show c.2638-3026_2638-3025insCATATATATATATATATATATATATA TACATATATATA	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	25/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694134	T T	TAGATAAT others(31): Show TAGATAATATATCATATATCAGATAATATATCATATATC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02109.hp2 others(3): Show HG00642.hp2 HG01884.hp2 HG02109.hp2 HG02486.hp2 HG02818.hp2 NA19043.hp1	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0001 a0001c0007 a0007c0009 others(1): Show a0001c0001 a0001c0007 a0007c0009 a0013c0022	a0001c0001t0003 a0001c0001t0011 a0001c0007t0003 others(2): Show a0001c0001t0003 a0001c0001t0011 a0001c0007t0003 a0007c0009t0002 a0013c0022t0005	a0001c0001t0003g0114 a0001c0001t0011g0130 a0001c0001t0011g0211 others(3): Show a0001c0001t0003g0114 a0001c0001t0011g0130 a0001c0001t0011g0211 a0001c0007t0003g0128 a0007c0009t0002g0131 a0013c0022t0005g0129	6	220	0.0273	38	c.344 others(55): Show c.344-6134_344-6097dupGATATATGATATATTATCTGATATATGA TATATTATCT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGA8_chr10_15508954_15724922	15694179	T T	TATATCAT others(31): Show TATATCATATATATGATAATATATCATATATATGATAAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0153 a0001c0001t0004g0153	1	220	0.0046	38	c.344 others(55): Show c.344-6179_344-6142dupGTTATCATATATATGATATATTATCATA TATATGATAT	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	2/29			chr10	TogoVar
ITGAE_chr17_3709628_3806188	3755064	A A	AGGCCCCG others(31): Show AGGCCCCGCCCTCATCAGGTGGCCCCGCCCTCATCAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG01123.hp1 others(5): Show HG00099.hp1 HG00642.hp1 HG01123.hp1 HG01515.hp2 HG02809.hp1 HG03209.hp2 HG03834.hp2 NA19065.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0015	a0001c0001 a0004c0004 a0005c0005 others(2): Show a0001c0001 a0004c0004 a0005c0005 a0008c0009 a0015c0026	a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 others(2): Show a0001c0001t0001 a0004c0004t0001 a0005c0005t0001 a0008c0009t0001 a0015c0026t0001	a0001c0001t0001g0191 a0001c0001t0001g0272 a0001c0001t0001g0295 others(5): Show a0001c0001t0001g0191 a0001c0001t0001g0272 a0001c0001t0001g0295 a0004c0004t0001g0027 a0005c0005t0001g0248 a0005c0005t0001g0284 a0008c0009t0001g0069 a0015c0026t0001g0230	8	302	0.0265	38	c.138 others(53): Show c.1384+15_1384+52dupACCTGATGAGGGCGGGGCCACCTGATGAGG GCGGGGCC	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding	12/30			chr17	TogoVar
ITGAL_chr16_30467742_30528185	30499713	G G	GTATATAT others(31): Show GTATATATATATGTGTATATATATATACGTATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	318	0.0031	38	c.214 others(55): Show c.2145+235_2145+236insGTGTATATATATATACGTATATATATAT ATATATATAT	ITGAL	ENSG00000005844.19	transcript	ENST00000356798.11	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31333578	A A	AAAATAAA others(31): Show AAAATAAAATAAATAAAATAAAATAAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01255.hp2 others(12): Show HG01109.hp2 HG01175.hp1 HG01255.hp2 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG06807.hp2 NA20752.hp2 NA21309.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0006 a0003c0004t0005 a0003c0004t0006	a0003c0004t0005g0025 a0003c0004t0005g0027 a0003c0004t0005g0036 others(12): Show a0003c0004t0005g0025 a0003c0004t0005g0027 a0003c0004t0005g0036 a0003c0004t0005g0037 a0003c0004t0005g0051 a0003c0004t0005g0054 a0003c0004t0005g0077 a0003c0004t0005g0078 a0003c0004t0005g0086 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0099 a0003c0004t0005g0105 a0003c0004t0005g0107 a0003c0004t0006g0034	15	244	0.0615	38	c.18 others(49): Show c.1871_*1872insAAATAAAATAAATAAAATAAAATAAAATAAAATA AAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		702		chr16	TogoVar
ITGBL1_chr13_101447675_101721446	101604885	T T	TGTGTATA others(31): Show TGTGTATATATATATATATATGTATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	306	0.0033	38	c.101 others(57): Show c.1015+6586_1015+6587insGTGTATATATATATATATATGTATAT ATATATACACAC	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10			chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101604887	T T	TATATATA others(31): Show TATATATATATATATATATATGTATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	306	0.0033	38	c.101 others(57): Show c.1015+6589_1015+6590insTATATATATATATATATATGTATATA TATATATACACA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101605152	G G	GTGTGTGT others(31): Show GTGTGTGTATATGCGTATATATACACATATAGACAGGCA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	306	0.0033	38	c.101 others(57): Show c.1015+6874_1015+6875insACACATATAGACAGGCATGTGTGTAT ATGCGTATATAT	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH2_chr10_7698316_7754520	7701183	G G	GCTGTTGT others(31): Show GCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01168.hp1 HG01256.hp2 others(7): Show HG01081.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp2 HG01975.hp1 HG02132.hp2 HG03710.hp1 HG04204.hp2 NA19082.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0360 a0003c0004t0001g0361 a0003c0004t0001g0363 others(7): Show a0003c0004t0001g0360 a0003c0004t0001g0361 a0003c0004t0001g0363 a0003c0004t0001g0364 a0003c0004t0001g0365 a0003c0004t0001g0366 a0003c0004t0001g0367 a0003c0004t0001g0368 a0003c0004t0001g0369 a0003c0004t0001g0370	10	380	0.0263	38	c.-22 others(49): Show c.-2252_-2251insCTGTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTT TGTT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding		2132		chr10	TogoVar
ITIH5_chr10_7554270_7671966	7566770	G G	GGAGAAGG others(31): Show GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18998.hp2 HG02293.hp1 NA18998.hp2	a0003 a0006 a0003 a0006	a0003c0005 a0006c0012 a0003c0005 a0006c0012	a0003c0005t0001 a0006c0012t0001 a0003c0005t0001 a0006c0012t0001	a0003c0005t0001g0108 a0006c0012t0001g0239 a0003c0005t0001g0108 a0006c0012t0001g0239	2	342	0.0059	38	c.215 others(55): Show c.2150-364_2150-363insTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTC	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	12/13			chr10	TogoVar
ITPR3_chr6_33616322_33701562	33666289	C C	CAAAAAAT others(31): Show CAAAAAATTTTTTTAAAAAATTTTTTTAAAAATTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03098.hp2 HG03225.hp1 others(1): Show HG01361.hp2 HG03098.hp2 HG03225.hp1 HG06807.hp1	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0018 a0001c0031 a0002c0062 others(1): Show a0001c0018 a0001c0031 a0002c0062 a0019c0067	a0001c0018t0001 a0001c0031t0001 a0002c0062t0001 others(1): Show a0001c0018t0001 a0001c0031t0001 a0002c0062t0001 a0019c0067t0001	a0001c0018t0001g0212 a0001c0031t0001g0215 a0002c0062t0001g0213 others(1): Show a0001c0018t0001g0212 a0001c0031t0001g0215 a0002c0062t0001g0213 a0019c0067t0001g0211	4	342	0.0117	38	c.155 others(55): Show c.1551+331_1551+332insATTTTTTTAAAAATTTTTTTAAAAAATT TTTTTAAAAA	ITPR3	ENSG00000096433.11	transcript	ENST00000605930.3	protein_coding	14/57		INFO_REALIGN_3_PRIME	chr6	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(31): Show CTCTCTCTCTCCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18961.hp2 HG00673.hp1 NA18961.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0007 a0002c0001 a0003c0007	a0002c0001t0002 a0003c0007t0003 a0002c0001t0002 a0003c0007t0003	a0002c0001t0002g0211 a0003c0007t0003g0212 a0002c0001t0002g0211 a0003c0007t0003g0212	2	312	0.0064	38	c.-98 others(55): Show c.-98+5501_-98+5502insCTCTCTCTCCATATATATATATATATAT ATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCCATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0217 a0003c0005t0003g0217	1	312	0.0032	38	c.-98 others(55): Show c.-98+5501_-98+5502insCTCTCTCTCTCCATATATATATATATAT ATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519620	C C	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0012 a0001c0011t0001g0012	1	312	0.0032	38	c.-98 others(55): Show c.-98+5501_-98+5502insCTCTCTCTCTCTCTCTATATATATATAT ATATATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITSN1_chr21_33637501_33904861	33690811	A A	ATATATAC others(31): Show ATATATACATATATATATATATATATATATATACATATG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0009 a0001c0010t0009	a0001c0010t0009g0143 a0001c0010t0009g0143	1	242	0.0041	38	c.-32 others(57): Show c.-32-27983_-32-27982insATACATATATATATATATATATATAT ATACATATGTAT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24337315	A A	AATATATA others(31): Show AATATATATATATATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	224	0.0045	38	c.-33 others(55): Show c.-33-9201_-33-9200insATATATATATATATATATATATGTATAT ATATATATAT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	1/39			chr2	TogoVar
JADE3_chrX_46907421_47066242	46999397	T T	TTATATAT others(31): Show TTATATATATATATATAACATATATATACATATATAACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp1 others(16): Show HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01255.hp1 HG01256.hp1 HG01981.hp1 HG01993.hp2 HG02109.hp2 HG02273.hp1 HG02451.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03195.hp2 NA18906.hp2 NA19057.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0038 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0140 a0001c0001t0006g0036 a0001c0001t0009g0228	19	258	0.0736	38	c.284 others(55): Show c.284+1171_284+1208dupTATAACATATATATACATATATAACATA TATATATATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46999436	T T	TATATATA others(31): Show TATATATATATATATATAACATATATATACATATATAAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0098 a0001c0001t0018g0098	1	258	0.0039	38	c.284 others(55): Show c.284+1174_284+1175insTAACATATATATACATATATAACATATA TATATATATA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK1_chr1_64828229_64971549	64902583	A A	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	326	0.0031	38	c.-77 others(57): Show c.-77-16243_-77-16242insACACTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTC	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAKMIP1_chr4_6021199_6205549	6160948	C C	CCCCTGAC others(31): Show CCCCTGACCTCCACTCACCTCCCTGACCTCCACTCACCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	233	0.0043	38	c.-14 others(59): Show c.-148+39267_-148+39304dupAGGTGAGTGGAGGTCAGGGAGGTG AGTGGAGGTCAGGG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0088 a0001c0002t0033g0088	1	250	0.0040	38	c.-14 others(59): Show c.-149+40300_-149+40301insAATATATATATATATATATATATA TATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0092 a0001c0002t0049g0092	1	250	0.0040	38	c.-14 others(59): Show c.-149+40300_-149+40301insAAAATATATATATATATATATATA TATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0097 a0001c0003t0031g0097	1	250	0.0040	38	c.-14 others(59): Show c.-149+40300_-149+40301insAAAAAATATATATATATATATATA TATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132097863	C C	CTTCCTTT others(31): Show CTTCCTTTTATTTTCTTCCCTTCCCCTTCCCCTTCCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(45): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01256.hp2 HG01346.hp1 HG01361.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02630.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp1 HG06807.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18971.hp2 NA18983.hp2 NA18999.hp1 NA19004.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0001 a0001c0006 a0001c0013 others(20): Show a0001c0001 a0001c0006 a0001c0013 a0001c0019 a0001c0022 a0001c0032 a0001c0048 a0002c0005 a0002c0008 a0002c0023 a0002c0026 a0003c0002 a0003c0003 a0003c0020 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0027 a0004c0028 a0004c0030 a0005c0050 a0008c0039	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0006t0003 a0001c0006t0035 a0001c0013t0001 a0001c0019t0003 a0001c0019t0015 a0001c0022t0002 a0001c0032t0037 a0001c0048t0013 a0002c0005t0005 a0002c0005t0019 a0002c0008t0004 a0002c0023t0001 a0002c0023t0003 a0002c0026t0001 a0003c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0012 a0003c0020t0003 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0011t0001 a0004c0014t0001 a0004c0027t0001 a0004c0028t0002 a0004c0030t0030 a0005c0050t0034 a0008c0039t0002	a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0004g0127 others(45): Show a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0004g0127 a0001c0001t0005g0137 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0035g0057 a0001c0013t0001g0129 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0022t0002g0062 a0001c0032t0037g0124 a0001c0048t0013g0098 a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0008t0004g0128 a0002c0023t0001g0058 a0002c0023t0003g0073 a0002c0026t0001g0106 a0003c0002t0001g0034 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0003t0002g0056 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0002g0145 a0004c0009t0010g0055 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0027t0001g0066 a0004c0028t0002g0065 a0004c0030t0030g0084 a0005c0050t0034g0115 a0008c0039t0002g0133	48	158	0.3038	38	c.-13 others(57): Show c.-137-6803_-137-6802insTTATTTTCTTCCCTTCCCCTTCCCCT TCCCCGTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132097863	C C	CTTCCTTT others(31): Show CTTCCTTTTATTTTCTTCCCTTCCCCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp2 HG01175.hp1 others(27): Show HG00423.hp2 HG00597.hp2 HG01175.hp1 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp2 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03654.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18944.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0006 a0001c0019 others(10): Show a0001c0001 a0001c0006 a0001c0019 a0001c0042 a0002c0008 a0002c0010 a0003c0002 a0003c0018 a0004c0007 a0004c0014 a0004c0043 a0004c0045 a0004c0046	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0006t0003 a0001c0006t0025 a0001c0019t0001 a0001c0042t0023 a0002c0008t0018 a0002c0010t0002 a0003c0002t0001 a0003c0002t0002 a0003c0018t0002 a0004c0007t0001 a0004c0007t0002 a0004c0007t0004 a0004c0014t0013 a0004c0014t0031 a0004c0043t0005 a0004c0045t0001 a0004c0046t0007	a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 others(27): Show a0001c0001t0001g0116 a0001c0001t0002g0027 a0001c0001t0002g0105 a0001c0001t0002g0146 a0001c0001t0002g0156 a0001c0001t0008g0142 a0001c0001t0021g0119 a0001c0006t0003g0149 a0001c0006t0025g0153 a0001c0019t0001g0152 a0001c0042t0023g0126 a0002c0008t0018g0120 a0002c0010t0002g0157 a0002c0010t0002g0158 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0002g0111 a0003c0018t0002g0117 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0007t0002g0121 a0004c0007t0004g0092 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0043t0005g0125 a0004c0045t0001g0090 a0004c0046t0007g0091	30	158	0.1899	38	c.-13 others(57): Show c.-137-6803_-137-6802insTTATTTTCTTCCCTTCCCCTTCCCCT TCCCCTTTCCTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132180568	C C	CGCGCGCG others(31): Show CGCGCGCGTGTGTGCGTGCGCGCGTGTGTGCGTGCGCGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0023 a0001c0042t0023	a0001c0042t0023g0126 a0001c0042t0023g0126	1	158	0.0063	38	c.11 others(59): Show c.1104-1788_*1104-1787insCGCGCGTGTGTGCGTGCGCGCGTG TGTGCGTGCGCGTG	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(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	328	0.0031	38	c.67+ others(55): Show c.67+20895_67+20896insATATATATATATATATATATATATATAT TTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	328	0.0031	38	c.67+ others(55): Show c.67+20895_67+20896insATATATATATATATATATATATATTTTT TTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03209.hp1 HG00099.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0041 a0001c0001t0004 a0002c0003t0041	a0001c0001t0004g0282 a0002c0003t0041g0239 a0001c0001t0004g0282 a0002c0003t0041g0239	2	328	0.0061	38	c.67+ others(55): Show c.67+20895_67+20896insATATATATATATATATATATATTTTTTT TTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0269 a0001c0001t0003g0269	1	328	0.0031	38	c.67+ others(55): Show c.67+20895_67+20896insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JARID2_chr6_15241069_15527042	15486806	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	284	0.0035	38	c.671 others(53): Show c.671-483_671-482insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27849752	G G	GACACAGA others(31): Show GACACAGACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02895.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0004g0100 others(1): Show a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0004g0100 a0001c0001t0004g0142	4	206	0.0194	38	c.386 others(55): Show c.386-8886_386-8885insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTCTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27849772	C C	CACACACA others(31): Show CACACACACACACACACACACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0138 a0001c0001t0002g0068 a0001c0001t0001g0138 a0001c0001t0002g0068	2	206	0.0097	38	c.386 others(55): Show c.386-8906_386-8905insATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	3/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	27898304	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	206	0.0049	38	c.189 others(55): Show c.189-2889_189-2888insGTATATATATATATATATATATATATAT ATATATATAT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JKAMP_chr14_59479517_59510410	59508399	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	358	0.0028	38	c.43 others(49): Show c.4327_*4328insACACACACACACACACACACACACACACACACAC ACAC	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding		2990		chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63234493	T T	TAAAAAAA others(31): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	310	0.0032	38	c.448 others(57): Show c.448-14511_448-14510insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	386	0.0026	38	c.65- others(53): Show c.65-1325_65-1324insATATATATATATATATATATATATATATAT ATTTTTTT	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(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	386	0.0026	38	c.65- others(53): Show c.65-1325_65-1324insATATATATATATATATATATATATATATAT TTTTTTTT	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(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01433.hp2 NA18948.hp1 HG01123.hp1 HG01433.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0102 a0001c0001t0002g0036 a0001c0001t0002g0102	3	386	0.0078	38	c.65- others(53): Show c.65-1325_65-1324insATATATATATATATATATATATATATTTTT TTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH1_chr8_74229700_74326540	74296019	G G	GACACACA others(31): Show GACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	330	0.0030	38	c.113 others(59): Show c.1139+18841_1139+18842insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH2_chr20_44101590_44192188	44134530	A A	ATAAATAT others(31): Show ATAAATATTTATTATAAATATATATAAATATATATTTAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG04115.hp2 NA18954.hp1 others(4): Show HG00609.hp2 HG04115.hp2 NA18954.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0017 a0002c0002 a0002c0005 a0002c0017	a0002c0002t0015 a0002c0002t0066 a0002c0002t0104 others(2): Show a0002c0002t0015 a0002c0002t0066 a0002c0002t0104 a0002c0005t0031 a0002c0017t0010	a0002c0002t0015g0121 a0002c0002t0015g0130 a0002c0002t0015g0131 others(4): Show a0002c0002t0015g0121 a0002c0002t0015g0130 a0002c0002t0015g0131 a0002c0002t0066g0101 a0002c0002t0104g0291 a0002c0005t0031g0204 a0002c0017t0010g0015	7	338	0.0207	38	c.117 others(59): Show c.1170-15908_1170-15907insATAAATATATATTTATATATATTT ATAATAAATATTTA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(31): Show TATATATATATATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19240.hp1 HG02630.hp1 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0222 a0001c0012t0001g0235 a0001c0012t0001g0222 a0001c0012t0001g0235	2	406	0.0049	38	c.-28 others(55): Show c.-28-2436_-28-2435insGTGTGTGTGTGTGTATATATATATATAT ATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	406	0.0025	38	c.-28 others(55): Show c.-28-2436_-28-2435insGTGTGTGTGTGTATATATATATATATAT ATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8340291	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	406	0.0025	38	c.-28 others(55): Show c.-28-2436_-28-2435insGTGTGTGTGTATATATATATATATATAT ATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK4_chr1_62231165_62324434	62278400	T T	TCTTTCTT others(31): Show TCTTTCTTTCTTTCTTTCTTTTCTTTCTTTATTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01952.hp1 others(6): Show HG00099.hp1 HG00558.hp1 HG01952.hp1 HG02080.hp1 HG02647.hp1 HG02896.hp1 HG03490.hp2 NA19084.hp2 NA19091.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0030 a0012c0032 a0001c0001 a0003c0030 a0012c0032	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0031 a0003c0030t0001 a0012c0032t0003	a0001c0001t0001g0124 a0001c0001t0001g0237 a0001c0001t0003g0119 others(6): Show a0001c0001t0001g0124 a0001c0001t0001g0237 a0001c0001t0003g0119 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0004g0058 a0001c0001t0031g0091 a0003c0030t0001g0075 a0012c0032t0003g0251	9	322	0.0280	38	c.16+ others(53): Show c.16+3148_16+3149insGAAAGAAATAAAGAAAGAAAAGAAAGAAAG AAAGAAAG	KANK4	ENSG00000132854.19	transcript	ENST00000371153.9	protein_coding	2/9			chr1	TogoVar

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Search Results (Total: 5880 hits)