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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Results per page.

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
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	308	0.0033	23	c.243 others(40): Show c.2433+441_2433+442insATATATATATATATATTTTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGB1_chr10_32895318_32963230	32961751	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	424	0.0024	23	c.-36 others(34): Show c.-3630_-3608dupAAAAAAAAAAAAAAAAAAAAAAA	ITGB1	ENSG00000150093.20	transcript	ENST00000302278.8	protein_coding		3522		chr10	TogoVar
ITGB3_chr17_47248827_47318743	47308184	T T	TAATAATA others(16): Show TAATAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp1 HG01243.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0247 a0001c0003t0007g0285 a0001c0003t0007g0247 a0001c0003t0007g0285	2	370	0.0054	23	c.230 others(40): Show c.2301+552_2301+553insTAATAATAATAATAATAAAATAA	ITGB3	ENSG00000259207.10	transcript	ENST00000559488.7	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ITGBL1_chr13_101447675_101721446	101588297	T T	TTGGTGTG others(16): Show TTGGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0086 a0001c0001t0005g0086	1	306	0.0033	23	c.868 others(40): Show c.868+4943_868+4944insGTGTGTGTGTGTGTGTGTGTGTG	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITGBL1_chr13_101447675_101721446	101689211	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01168.hp1 others(15): Show HG00621.hp2 HG00639.hp2 HG01168.hp1 HG02056.hp1 HG02258.hp1 HG02922.hp2 HG03942.hp2 HG04204.hp1 NA18612.hp1 NA18960.hp1 NA18966.hp2 NA18968.hp2 NA18986.hp2 NA18987.hp1 NA19005.hp2 NA19065.hp1 NA19074.hp2 NA19085.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0015 a0002c0007 a0002c0008 a0004c0018	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0015t0001 a0002c0007t0001 a0002c0008t0001 a0004c0018t0001	a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0128 others(15): Show a0001c0001t0001g0108 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0003t0001g0062 a0001c0003t0001g0068 a0001c0003t0001g0104 a0001c0003t0001g0161 a0001c0005t0001g0033 a0001c0006t0001g0247 a0001c0015t0001g0226 a0002c0007t0001g0061 a0002c0007t0001g0069 a0002c0007t0001g0074 a0002c0008t0001g0245 a0002c0008t0001g0248 a0004c0018t0001g0046	18	306	0.0588	23	c.101 others(42): Show c.1016-3352_1016-3351insAAAAAAAAAAAAAAAAAAAAAAA	ITGBL1	ENSG00000198542.15	transcript	ENST00000376180.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr13	TogoVar
ITIH5_chr10_7554270_7671966	7597063	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0000 a0000	a0000c0026 a0000c0026	a0000c0026t0014 a0000c0026t0014	a0000c0026t0014g0188 a0000c0026t0014g0188	1	342	0.0029	23	c.940 others(42): Show c.940-10995_940-10994insATTTTTTTTTTTTTTTTTTTTTT	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITK_chr5_157175840_157260185	157233963	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02602.hp2 HG02132.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0296 a0001c0001t0003g0273 a0001c0001t0002g0296 a0001c0001t0003g0273	2	348	0.0058	23	c.768 others(40): Show c.768+1570_768+1571insATATATATATATATATATATATT	ITK	ENSG00000113263.14	transcript	ENST00000422843.8	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITPKB_chr1_226626690_226744282	226740871	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAGAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03516.hp1 HG03540.hp2 HG02922.hp1 HG03516.hp1 HG03540.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0018 a0009c0009t0018	a0009c0009t0018g0028 a0009c0009t0018g0029 a0009c0009t0018g0030 a0009c0009t0018g0028 a0009c0009t0018g0029 a0009c0009t0018g0030	3	350	0.0086	23	c.-20 others(34): Show c.-2037_-2036insCTTCTCTTTTTTTTTTTTTTTTT	ITPKB	ENSG00000143772.11	transcript	ENST00000429204.6	protein_coding		1590		chr1	TogoVar
ITPR2_chr12_26330352_26838194	26568015	T T	TATATATT others(16): Show TATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	142	0.0070	23	c.463 others(42): Show c.4631-6064_4631-6063insTATATATAATATATATAATATAT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	34/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26605126	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0058 a0001c0004t0006g0058	1	142	0.0070	23	c.346 others(42): Show c.3463-2421_3463-2420insATATATATATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	26/56			chr12	TogoVar
ITPRIP_chr10_104304700_104343465	104309330	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19043.hp2 NA19012.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0185 a0001c0001t0014g0043 a0001c0001t0003g0185 a0001c0001t0014g0043	2	324	0.0062	23	c.50 others(34): Show c.5077_*5078insATATATATATATATATATATATA	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		369		chr10	TogoVar
ITPRIP_chr10_104304700_104343465	104309331	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA19002.hp1 NA18997.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0194 a0001c0001t0003g0008 a0001c0001t0003g0194	2	324	0.0062	23	c.50 others(34): Show c.5076_*5077insTATATATATATATATATATATAT	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		368		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33689734	G G	GAGGCCGG others(16): Show GAGGCCGGTGGATCACCTGAGGTC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0114 a0001c0002t0004g0114	1	242	0.0041	23	c.-32 others(42): Show c.-32-29059_-32-29037dupCCGGTGGATCACCTGAGGTCAGG	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24361740	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01934.hp2 HG02071.hp2 others(2): Show HG00642.hp2 HG01934.hp2 HG02071.hp2 NA18985.hp1 NA19079.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0003 a0015c0020 a0001c0001 a0002c0003 a0015c0020	a0001c0001t0001 a0002c0003t0001 a0015c0020t0001 a0001c0001t0001 a0002c0003t0001 a0015c0020t0001	a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0125 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0071 a0001c0001t0001g0125 a0002c0003t0001g0127 a0015c0020t0001g0078	5	224	0.0223	23	c.-14 others(34): Show c.-1471_-1470insTTTTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding		1205		chr2	TogoVar
IVNS1ABP_chr1_185291388_185322243	185292368	T T	TTTTCCCT others(16): Show TTTTCCCTCTCCCTTCTTTGTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	380	0.0026	23	c.56 others(34): Show c.5666_*5667insGCAACAAAGAAGGGAGAGGGAAA	IVNS1ABP	ENSG00000116679.16	transcript	ENST00000367498.8	protein_coding		4019		chr1	TogoVar
JADE3_chrX_46907421_47066242	46921151	A A	ACTGCAGC others(16): Show ACTGCAGCCTTGAACTCCTGGGCT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0249 a0001c0001t0007g0249	1	258	0.0039	23	c.-12 others(40): Show c.-12+8434_-12+8456dupTGCAGCCTTGAACTCCTGGGCTC	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAK2_chr9_4980272_5134948	5062500	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02258.hp1 HG01981.hp2 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0005 a0001c0004t0053 a0001c0003t0005 a0001c0004t0053	a0001c0003t0005g0194 a0001c0004t0053g0047 a0001c0003t0005g0194 a0001c0004t0053g0047	2	364	0.0055	23	c.105 others(42): Show c.1057-2374_1057-2352dupAAAAAAAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5131435	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02922.hp2 others(3): Show HG00639.hp2 HG02451.hp1 HG02922.hp2 NA18906.hp1 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0031 a0001c0004t0006 a0001c0004t0031	a0001c0004t0006g0036 a0001c0004t0006g0040 a0001c0004t0006g0045 others(3): Show a0001c0004t0006g0036 a0001c0004t0006g0040 a0001c0004t0006g0045 a0001c0004t0006g0049 a0001c0004t0006g0057 a0001c0004t0031g0043	6	364	0.0165	23	c.46 others(34): Show c.4644_*4645insTTTTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		1488		chr9	TogoVar
JAKMIP1_chr4_6021199_6205549	6125851	C C	CATACAGA others(16): Show CATACAGAAACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0140 a0001c0011t0001g0140	1	233	0.0043	23	c.-14 others(44): Show c.-147-12855_-147-12854insTGTGTGTGTGTGTGTTTCTGTAT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	1/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02976.hp1 HG03579.hp2 others(2): Show HG01934.hp1 HG02976.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0080 a0001c0002t0085 a0001c0005t0017 others(1): Show a0001c0002t0080 a0001c0002t0085 a0001c0005t0017 a0001c0005t0027	a0001c0002t0080g0192 a0001c0002t0085g0244 a0001c0005t0017g0189 others(2): Show a0001c0002t0080g0192 a0001c0002t0085g0244 a0001c0005t0017g0189 a0001c0005t0027g0191 a0001c0005t0027g0193	5	250	0.0200	23	c.-14 others(44): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132071906	C C	CTTCCTTC others(16): Show CTTCCTTCCCTTCCTTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp2 HG01175.hp1 others(34): Show HG00597.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp1 HG01884.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp2 NA18971.hp1 NA19081.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0006 a0001c0015 others(20): Show a0001c0001 a0001c0006 a0001c0015 a0001c0017 a0001c0019 a0001c0022 a0001c0034 a0001c0040 a0002c0005 a0002c0010 a0002c0031 a0003c0018 a0003c0021 a0003c0038 a0004c0007 a0004c0014 a0004c0024 a0004c0030 a0004c0033 a0004c0035 a0004c0045 a0004c0046 a0009c0041	a0001c0001t0002 a0001c0006t0003 a0001c0015t0001 others(28): Show a0001c0001t0002 a0001c0006t0003 a0001c0015t0001 a0001c0015t0002 a0001c0015t0028 a0001c0017t0003 a0001c0019t0001 a0001c0019t0003 a0001c0019t0015 a0001c0022t0002 a0001c0034t0001 a0001c0040t0002 a0002c0005t0010 a0002c0010t0009 a0002c0031t0039 a0003c0018t0002 a0003c0018t0003 a0003c0021t0001 a0003c0038t0001 a0004c0007t0002 a0004c0007t0004 a0004c0014t0013 a0004c0014t0031 a0004c0024t0002 a0004c0024t0006 a0004c0030t0030 a0004c0033t0002 a0004c0035t0005 a0004c0045t0001 a0004c0046t0007 a0009c0041t0029	a0001c0001t0002g0027 a0001c0006t0003g0082 a0001c0006t0003g0083 others(34): Show a0001c0001t0002g0027 a0001c0006t0003g0082 a0001c0006t0003g0083 a0001c0006t0003g0149 a0001c0015t0001g0030 a0001c0015t0002g0018 a0001c0015t0028g0017 a0001c0017t0003g0104 a0001c0019t0001g0152 a0001c0019t0003g0081 a0001c0019t0015g0085 a0001c0022t0002g0080 a0001c0034t0001g0021 a0001c0040t0002g0025 a0002c0005t0010g0061 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0031t0039g0088 a0003c0018t0002g0028 a0003c0018t0003g0015 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0004c0007t0002g0026 a0004c0007t0004g0092 a0004c0014t0013g0147 a0004c0014t0031g0150 a0004c0024t0002g0151 a0004c0024t0006g0148 a0004c0030t0030g0084 a0004c0033t0002g0029 a0004c0035t0005g0020 a0004c0045t0001g0090 a0004c0046t0007g0091 a0009c0041t0029g0019	37	158	0.2342	23	c.-13 others(42): Show c.-138+5853_-138+5854insCTTCCTTTCCTTCCTTTCCTTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132149592	C C	CTCCCTGC others(16): Show CTCCCTGCCCCCGCCCCACCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0052 a0002c0016t0006g0052	1	158	0.0063	23	c.194 others(38): Show c.1947+82_1947+83insTCCCTGCCCCCGCCCCACCCCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	15/23			chr10	TogoVar
JAM2_chr21_25634258_25722562	25660782	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0229 a0001c0001t0008g0229	1	328	0.0031	23	c.67+ others(40): Show c.67+20895_67+20896insATATATATATATATATATATTTT	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(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19030.hp1 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0046 a0001c0001t0004 a0001c0001t0046	a0001c0001t0004g0100 a0001c0001t0046g0137 a0001c0001t0004g0100 a0001c0001t0046g0137	2	328	0.0061	23	c.67+ others(40): Show c.67+20895_67+20896insATATATATATATATATATTTTTT	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
JAM2_chr21_25634258_25722562	25660783	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19030.hp2 NA19240.hp1 NA18987.hp1 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0005 a0001c0001t0037 a0002c0003t0007 a0001c0001t0005 a0001c0001t0037 a0002c0003t0007	a0001c0001t0005g0250 a0001c0001t0037g0237 a0002c0003t0007g0294 a0001c0001t0005g0250 a0001c0001t0037g0237 a0002c0003t0007g0294	3	328	0.0092	23	c.67+ others(40): Show c.67+20895_67+20896insATATATATATATATATATATATA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding	1/9			chr21	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(16): Show TCCTCCCCTTCTCCCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp2 HG03139.hp1 others(1): Show HG02258.hp1 HG02886.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0019 a0001c0001t0009g0110 a0001c0001t0009g0111 others(1): Show a0001c0001t0006g0019 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112	4	284	0.0141	23	c.670 others(38): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	28120501	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	206	0.0049	23	c.115 others(42): Show c.115+59939_115+59961dupAAAAAAAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JCAD_chr10_30007803_30064586	30042600	C C	CAGATGGG others(16): Show CAGATGGGTGGCAATGGGAGGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02723.hp1 others(10): Show HG01884.hp2 HG02109.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 NA18906.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0002 a0013 a0027 others(3): Show a0002 a0013 a0027 a0028 a0029 a0035	a0002c0006 a0013c0048 a0027c0036 others(3): Show a0002c0006 a0013c0048 a0027c0036 a0028c0035 a0029c0037 a0035c0047	a0002c0006t0004 a0002c0006t0026 a0013c0048t0004 others(4): Show a0002c0006t0004 a0002c0006t0026 a0013c0048t0004 a0027c0036t0004 a0028c0035t0004 a0029c0037t0004 a0035c0047t0004	a0002c0006t0004g0014 a0002c0006t0004g0076 a0002c0006t0004g0119 others(9): Show a0002c0006t0004g0014 a0002c0006t0004g0076 a0002c0006t0004g0119 a0002c0006t0004g0123 a0002c0006t0004g0124 a0002c0006t0004g0126 a0002c0006t0026g0199 a0013c0048t0004g0098 a0027c0036t0004g0300 a0028c0035t0004g0075 a0029c0037t0004g0301 a0035c0047t0004g0302	13	398	0.0327	23	c.281 others(40): Show c.281+4909_281+4931dupCTGCCTCCCATTGCCACCCATCT	JCAD	ENSG00000165757.9	transcript	ENST00000375377.2	protein_coding	2/3			chr10	TogoVar
JHY_chr11_122877759_122968862	122922809	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0128 a0001c0001t0010g0128	1	332	0.0030	23	c.865 others(40): Show c.865-2083_865-2061dupAAAAAAAAAAAAAAAAAAAAAAA	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
JHY_chr11_122877759_122968862	122922836	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	332	0.0030	23	c.865 others(40): Show c.865-2061_865-2060insAAAAAAAAAAAAAAAAAAAAAAC	JHY	ENSG00000109944.11	transcript	ENST00000227349.7	protein_coding	3/8			chr11	TogoVar
JKAMP_chr14_59479517_59510410	59502753	T T	TTTGTTTT others(16): Show TTTGTTTTTTTTTCTTTGTTTTTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01175.hp1 HG01361.hp1 others(17): Show HG00544.hp1 HG01175.hp1 HG01361.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02683.hp2 HG03831.hp1 NA18940.hp1 NA18964.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp2 NA19004.hp2 NA19006.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0040 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0123	20	358	0.0559	23	c.718 others(40): Show c.718-1099_718-1098insGTTTTTTTTTCTTTGTTTTTGTT	JKAMP	ENSG00000050130.18	transcript	ENST00000616435.5	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63387628	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0123 a0005c0005t0001g0123	1	310	0.0032	23	c.169 others(40): Show c.169-7147_169-7146insAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63387629	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG03579.hp1 HG02622.hp1 HG03453.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0008 a0005c0005 a0001c0008 a0005c0005	a0001c0008t0001 a0005c0005t0001 a0001c0008t0001 a0005c0005t0001	a0001c0008t0001g0302 a0005c0005t0001g0117 a0005c0005t0001g0122 a0001c0008t0001g0302 a0005c0005t0001g0117 a0005c0005t0001g0122	3	310	0.0097	23	c.169 others(40): Show c.169-7170_169-7148dupAAAAAAAAAAAAAAAAAAAAAAA	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	1/25			chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18968.hp1 HG02572.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0002g0148 a0001c0001t0001g0066 a0001c0001t0002g0148	2	386	0.0052	23	c.65- others(38): Show c.65-1325_65-1324insATATATATATATATATATTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	386	0.0026	23	c.65- others(38): Show c.65-1325_65-1324insATATATATATATTTTTTTTTTTT	JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
JMY_chr5_79231131_79332211	79270616	T T	TTATATAA others(16): Show TTATATAAAATATATTTACATAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0184 a0003c0005t0011g0184	1	342	0.0029	23	c.103 others(42): Show c.1033-7290_1033-7268dupATAAAATATATTTACATAAATAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JOSD2_chr19_50500998_50516191	50511950	G G	GCACAGAG others(16): Show GCACAGAGACTCAGGGGACGCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(251): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0003c0008 a0004c0003 a0006c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0001 a0001c0007t0001 a0003c0008t0001 a0004c0003t0001 a0006c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(120): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0065 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0012 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0004g0038 a0001c0001t0004g0085 a0001c0001t0004g0116 a0001c0001t0005g0026 a0001c0001t0005g0064 a0001c0004t0001g0172 a0001c0007t0001g0095 a0003c0008t0001g0059 a0004c0003t0001g0083 a0006c0002t0001g0104	254	376	0.6755	23	c.-85 others(32): Show c.-852_-851insTCCGCGTCCCCTGAGTCTCTGTG	JOSD2	ENSG00000161677.12	transcript	ENST00000598418.6	protein_coding		760		chr19	TogoVar
JPH1_chr8_74229700_74326540	74296045	C C	CACACACA others(16): Show CACACACACACACACACACACACG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0029 a0001c0001t0010g0029	1	330	0.0030	23	c.113 others(44): Show c.1139+18815_1139+18816insCGTGTGTGTGTGTGTGTGTGTGT	JPH1	ENSG00000104369.5	transcript	ENST00000342232.5	protein_coding	2/5			chr8	TogoVar
JPH3_chr16_87597508_87703156	87620453	A A	AAGGAGAG others(16): Show AAGGAGAGAGAGGGAGAGAAGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0084 a0001c0005t0008g0084	1	380	0.0026	23	c.382 others(42): Show c.382+16928_382+16950dupGAGAGAGAGGGAGAGAAGGAGAG	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH4_chr14_23563038_23583790	23580971	C C	CACCCCCC others(16): Show CACCCCCCTCACCCCCCTACCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	23	c.-29 others(34): Show c.-2964_-2963insTAGGGTAGGGGGGTGAGGGGGGT	JPH4	ENSG00000092051.18	transcript	ENST00000356300.9	protein_coding		2182		chr14	TogoVar
JRK_chr8_142652460_142674967	142670134	T T	TGGAGGAG others(16): Show TGGAGGAGAGGAGAGAGGCAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0059 a0001c0003t0059	a0001c0003t0059g0203 a0001c0003t0059g0203	1	466	0.0022	23	c.-66 others(32): Show c.-666_-665insCCCTTGCCTCTCTCCTCTCCTCC	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		168		chr8	TogoVar
JRK_chr8_142652460_142674967	142670143	G G	GGAGAGAG others(16): Show GGAGAGAGGCAAGGGGGGAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 NA18522.hp1 HG03453.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	466	0.0043	23	c.-67 others(32): Show c.-675_-674insTCTCCTCCCCCCTTGCCTCTCTC	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		177		chr8	TogoVar
JSRP1_chr19_2247252_2261417	2259312	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0036	1	436	0.0023	23	c.-29 others(34): Show c.-2983_-2961dupTTTTTTTTTTTTTTTTTTTTTTT	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding		2896		chr19	TogoVar
KALRN_chr3_124028369_124731325	124587698	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01074.hp2 HG00323.hp2 HG01074.hp2	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0002 a0001c0011t0001 a0001c0007t0002 a0001c0011t0001	a0001c0007t0002g0051 a0001c0011t0001g0017 a0001c0007t0002g0051 a0001c0011t0001g0017	2	116	0.0172	23	c.518 others(44): Show c.5182+24612_5182+24634dupTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18947.hp2 HG02273.hp2 NA18947.hp2	a0001 a0001	a0001c0005 a0001c0058 a0001c0005 a0001c0058	a0001c0005t0001 a0001c0058t0001 a0001c0005t0001 a0001c0058t0001	a0001c0005t0001g0035 a0001c0058t0001g0016 a0001c0005t0001g0035 a0001c0058t0001g0016	2	116	0.0172	23	c.566 others(42): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTGTTGTTGTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG02486.hp2 HG02615.hp1	a0001 a0001	a0001c0029 a0001c0040 a0001c0029 a0001c0040	a0001c0029t0020 a0001c0040t0032 a0001c0029t0020 a0001c0040t0032	a0001c0029t0020g0114 a0001c0040t0032g0100 a0001c0029t0020g0114 a0001c0040t0032g0100	2	116	0.0172	23	c.566 others(42): Show c.5664+5513_5664+5514insGTTGTTGTTGTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTTTTTT others(16): Show GTTTTTTTTTTGTTGTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02723.hp1 others(4): Show HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0012 others(2): Show a0001c0004 a0001c0008 a0001c0012 a0001c0026 a0001c0065	a0001c0004t0004 a0001c0008t0004 a0001c0012t0004 others(3): Show a0001c0004t0004 a0001c0008t0004 a0001c0012t0004 a0001c0012t0010 a0001c0026t0006 a0001c0065t0009	a0001c0004t0004g0113 a0001c0008t0004g0021 a0001c0008t0004g0022 others(4): Show a0001c0004t0004g0113 a0001c0008t0004g0021 a0001c0008t0004g0022 a0001c0012t0004g0107 a0001c0012t0010g0078 a0001c0026t0006g0110 a0001c0065t0009g0093	7	116	0.0603	23	c.566 others(42): Show c.5664+5513_5664+5514insGTTGTTGTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0068 a0001c0068	a0001c0068t0013 a0001c0068t0013	a0001c0068t0013g0063 a0001c0068t0013g0063	1	116	0.0086	23	c.566 others(42): Show c.5665-4400_5665-4399insTTTTTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	504769	G G	GCGCCCCG others(16): Show GCGCCCCGTGCCGCGCTGCGCCCC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	254	0.0039	23	c.-84 others(36): Show c.-84+15_-84+16insCGCCCCGTGCCGCGCTGCGCCCC	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11			chr9	TogoVar
KANSL1_chr17_46024916_46198429	46052964	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18986.hp2 homoSapiens_chm13v2.hp1 NA18986.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0242 a0002c0003t0003g0250 a0002c0003t0003g0242 a0002c0003t0003g0250	2	321	0.0062	23	c.184 others(42): Show c.1849-2283_1849-2261dupTTTTTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar

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