Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
KISS1_chr1_204185341_204201491	204200299	G G	GTATATAT others(13): Show GTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG02129.hp1 HG01175.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0002 a0001c0001t0001g0027	2	400	0.0050	20	c.-39 others(31): Show c.-3982_-3963dupTATATATATATATATATATA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KISS1_chr1_204185341_204201491	204200299	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA19063.hp2 NA18747.hp1 NA19063.hp2	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0001 a0000c0002t0002g0001	2	400	0.0050	20	c.-39 others(31): Show c.-3963_-3962insTATATATATATATATATACA	KISS1	ENSG00000170498.10	transcript	ENST00000367194.5	protein_coding		3809		chr1	TogoVar
KIZ_chr20_21121082_21251622	21142790	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02559.hp2 others(2): Show HG01884.hp2 HG02055.hp2 HG02559.hp2 HG03209.hp2 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0007 a0001c0001 a0003c0003 a0003c0007	a0001c0001t0001 a0003c0003t0001 a0003c0007t0001 a0001c0001t0001 a0003c0003t0001 a0003c0007t0001	a0001c0001t0001g0158 a0001c0001t0001g0169 a0003c0003t0001g0120 others(2): Show a0001c0001t0001g0158 a0001c0001t0001g0169 a0003c0003t0001g0120 a0003c0003t0001g0163 a0003c0007t0001g0166	5	314	0.0159	20	c.316 others(37): Show c.316-2767_316-2748dupTAAATAAATAAATAAATAAA	KIZ	ENSG00000088970.16	transcript	ENST00000619189.5	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLC1_chr14_103624211_103706544	103693663	C C	CCCGCCCT others(13): Show CCCGCCCTGCCACGCCCCTCA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	368	0.0027	20	c.184 others(39): Show c.1848+1249_1848+1268dupACGCCCCTCACCGCCCTGCC	KLC1	ENSG00000126214.22	transcript	ENST00000334553.11	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLC3_chr19_45335750_45356519	45337474	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02148.hp1 HG02523.hp2 others(8): Show HG02135.hp1 HG02148.hp1 HG02523.hp2 HG02976.hp1 HG03516.hp2 HG03540.hp2 NA18946.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0034 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0222 a0001c0003t0001g0114	11	434	0.0254	20	c.-33 others(31): Show c.-3381_-3380insTTTTTTTTTTTTTTTTTTTT	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding		3275		chr19	TogoVar
KLC3_chr19_45335750_45356519	45339737	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02071.hp1 HG02083.hp2 others(8): Show HG01884.hp2 HG02071.hp1 HG02083.hp2 NA18612.hp2 NA18906.hp1 NA18959.hp1 NA18970.hp2 NA18973.hp1 NA18982.hp2 NA18993.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0209	11	434	0.0254	20	c.-11 others(31): Show c.-1118_-1117insAAAAAAAAAAAAAAAAAAAA	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding		1012		chr19	TogoVar
KLC3_chr19_45335750_45356519	45341578	T T	TGTGTGTG others(13): Show TGTGTGTGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01070.hp1 HG00140.hp1 HG00280.hp2 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0231 a0001c0002t0001g0046 a0001c0002t0001g0231	3	434	0.0069	20	c.-9+ others(33): Show c.-9+733_-9+734insTGTGTGCGCGCGCGCGCGCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLC3_chr19_45335750_45356519	45341578	T T	TGTGTGTG others(13): Show TGTGTGTGTGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG02735.hp1 others(4): Show HG00140.hp2 HG00639.hp1 HG02735.hp1 HG03471.hp1 HG04228.hp2 NA18974.hp2 NA19082.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0001 a0005c0008t0001 a0001c0002t0001 a0005c0008t0001	a0001c0002t0001g0048 a0001c0002t0001g0241 a0001c0002t0001g0242 others(4): Show a0001c0002t0001g0048 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0005c0008t0001g0048	7	434	0.0161	20	c.-9+ others(33): Show c.-9+733_-9+734insTGTGTGTGCGCGCGCGCGCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLC3_chr19_45335750_45356519	45341578	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 NA19063.hp1 HG01891.hp1 HG03486.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256	3	434	0.0069	20	c.-9+ others(33): Show c.-9+733_-9+734insTGTGTGTGTGCGCGCGCGCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLC3_chr19_45335750_45356519	45341578	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	434	0.0023	20	c.-9+ others(33): Show c.-9+733_-9+734insTGTGTGTGTGTGTGCGCGCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLC3_chr19_45335750_45356519	45341578	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0001 a0014c0013t0001	a0014c0013t0001g0271 a0014c0013t0001g0271	1	434	0.0023	20	c.-9+ others(33): Show c.-9+733_-9+734insTGTGTGTGTGTGTGTGTGCG	KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
KLF12_chr13_73681089_74139404	73796507	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0017 a0001c0001t0023g0017	1	120	0.0083	20	c.806 others(39): Show c.806+16625_806+16644dupCACACACACACACACACACA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	5/7			chr13	TogoVar
KLF12_chr13_73681089_74139404	73810982	C C	CTTTCTTT others(13): Show CTTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	120	0.0083	20	c.806 others(37): Show c.806+2169_806+2170insAAAAAAAAAAAAAAAAGAAA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	5/7			chr13	TogoVar
KLF12_chr13_73681089_74139404	73957015	A A	AGAAAGGA others(13): Show AGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	1	120	0.0083	20	c.34- others(37): Show c.34-12965_34-12946dupCTTTCCTTTCCTTTCCTTTC	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	2/7			chr13	TogoVar
KLF12_chr13_73681089_74139404	73959124	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0018 a0001c0002t0005g0018	1	120	0.0083	20	c.34- others(37): Show c.34-15055_34-15054insTTTTTTTTTTTTTTTTTTTT	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	2/7			chr13	TogoVar
KLF12_chr13_73681089_74139404	74060492	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0029 a0001c0001t0011g0029	1	120	0.0083	20	c.-31 others(39): Show c.-31-65440_-31-65439insGACACACACACACACACACA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KLF15_chr3_126337635_126362408	126343152	G G	GCCCCCCA others(13): Show GCCCCCCACCCCCCCACCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp2 NA19000.hp1 NA18950.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0098 a0001c0001t0050 a0001c0001t0098	a0001c0001t0050g0044 a0001c0001t0098g0072 a0001c0001t0050g0044 a0001c0001t0098g0072	2	382	0.0052	20	c.57 others(29): Show c.574_*575insGGGGGTGGGGGGGTGGGGGG	KLF15	ENSG00000163884.4	transcript	ENST00000296233.4	protein_coding	3/3	574		chr3	TogoVar
KLF17_chr1_44113821_44140140	44126009	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp2 HG01978.hp2 others(4): Show HG01167.hp2 HG01261.hp2 HG01978.hp2 HG02004.hp2 HG02148.hp2 NA18942.hp1 NA18942.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0007c0014 a0004c0004 a0007c0014	a0004c0004t0001 a0007c0014t0001 a0004c0004t0001 a0007c0014t0001	a0004c0004t0001g0028 a0004c0004t0001g0083 a0004c0004t0001g0086 others(3): Show a0004c0004t0001g0028 a0004c0004t0001g0083 a0004c0004t0001g0086 a0004c0004t0001g0087 a0004c0004t0001g0141 a0007c0014t0001g0274	7	444	0.0158	20	c.82- others(35): Show c.82-3334_82-3315dupGTTTTGTTTTGTTTTGTTTT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTCTCTTT others(13): Show TTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0065 a0003c0003t0003g0065	1	444	0.0023	20	c.82- others(35): Show c.82-1660_82-1659insCTCTTTCTTTCTTTCTTTCT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTCTTTTT others(13): Show TTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp2 HG03490.hp1 HG03490.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0049 a0003c0003t0003g0049	2	444	0.0045	20	c.82- others(35): Show c.82-1660_82-1659insCTTTTTCTTTCTTTCTTTCT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF17_chr1_44113821_44140140	44127692	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp2 NA18522.hp2 others(2): Show HG02602.hp2 HG03927.hp2 NA18522.hp2 NA18961.hp2 NA19084.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0071 a0003c0003t0003g0107 a0003c0003t0003g0193 others(2): Show a0003c0003t0003g0071 a0003c0003t0003g0107 a0003c0003t0003g0193 a0003c0003t0003g0208 a0003c0003t0003g0265	5	444	0.0113	20	c.82- others(35): Show c.82-1658_82-1639dupTCTTTCTTTCTTTCTTTCTT	KLF17	ENSG00000171872.5	transcript	ENST00000372299.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLF5_chr13_73054005_73082538	73062791	C C	CTGTGTGC others(13): Show CTGTGTGCGCGCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	440	0.0023	20	c.113 others(35): Show c.1135+65_1135+84dupGCGCGCGTGTGCGTGTGTGC	KLF5	ENSG00000102554.14	transcript	ENST00000377687.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
KLF7_chr2_207069137_207170948	207099550	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	318	0.0031	20	c.734 others(39): Show c.734-10970_734-10969insTATATATATATATATATATA	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KLF7_chr2_207069137_207170948	207099551	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01358.hp2 others(19): Show HG00597.hp1 HG01081.hp1 HG01358.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02451.hp1 HG02735.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 NA18939.hp2 NA18955.hp1 NA18992.hp1 NA19030.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0073 a0001c0002t0032 a0001c0002t0040	a0001c0001t0001g0171 a0001c0001t0002g0006 a0001c0001t0002g0138 others(19): Show a0001c0001t0001g0171 a0001c0001t0002g0006 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0197 a0001c0001t0002g0208 a0001c0001t0003g0010 a0001c0001t0004g0140 a0001c0001t0005g0182 a0001c0001t0005g0249 a0001c0001t0006g0108 a0001c0001t0006g0284 a0001c0001t0008g0093 a0001c0001t0009g0293 a0001c0001t0016g0223 a0001c0001t0018g0300 a0001c0001t0019g0062 a0001c0001t0025g0059 a0001c0001t0029g0101 a0001c0001t0073g0315 a0001c0002t0032g0157 a0001c0002t0040g0073	22	318	0.0692	20	c.734 others(39): Show c.734-10990_734-10971dupATATATATATATATATATAT	KLF7	ENSG00000118263.16	transcript	ENST00000309446.11	protein_coding	2/3			chr2	TogoVar
KLHDC10_chr7_130065534_130140705	130107843	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18997.hp2 NA18982.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0035 a0001c0001t0002 a0001c0001t0035	a0001c0001t0002g0237 a0001c0001t0035g0225 a0001c0001t0002g0237 a0001c0001t0035g0225	2	386	0.0052	20	c.254 others(37): Show c.254-8597_254-8578dupAAAAAAAAAAAAAAAAAAAA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128889	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	386	0.0026	20	c.980 others(35): Show c.980-536_980-517dupTATATATATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130128919	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0242 a0001c0001t0008g0242	1	386	0.0026	20	c.980 others(35): Show c.980-517_980-516insTATATATATATATATACACA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC10_chr7_130065534_130140705	130130337	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18522.hp1 HG03225.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0023 a0001c0001t0021 a0001c0001t0023	a0001c0001t0021g0055 a0001c0001t0023g0091 a0001c0001t0021g0055 a0001c0001t0023g0091	2	386	0.0052	20	c.112 others(37): Show c.1120-183_1120-182insTATATATATATATATATATA	KLHDC10	ENSG00000128607.14	transcript	ENST00000335420.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
KLHDC1_chr14_49688120_49758150	49693748	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	208	0.0048	20	c.96+ others(33): Show c.96+474_96+475insTTTTTTTTTTTTTTTTTTTT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49715761	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	208	0.0048	20	c.404 others(37): Show c.404+5381_404+5382insTATATATATATATATATATA	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0174 a0001c0006t0001g0174	1	208	0.0048	20	c.22 others(31): Show c.2297_*2298insAAAAAAAAAAAAAAAAAAAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0178 a0001c0002t0001g0180	2	208	0.0096	20	c.22 others(31): Show c.2297_*2298insAAAAAAAAAAAAAAAAATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03139.hp1 HG03209.hp2 HG02630.hp2 HG03139.hp1 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0172 a0001c0002t0001g0179 a0001c0002t0005g0175 a0001c0002t0001g0172 a0001c0002t0001g0179 a0001c0002t0005g0175	3	208	0.0144	20	c.22 others(31): Show c.2297_*2298insAAAAAAAAAAAAAAATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0177 a0001c0002t0001g0177	1	208	0.0048	20	c.22 others(31): Show c.2297_*2298insAAAAAAAAAAAAATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC1_chr14_49688120_49758150	49754069	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	208	0.0048	20	c.22 others(31): Show c.2297_*2298insAAAAAAATATATATATATAT	KLHDC1	ENSG00000197776.8	transcript	ENST00000359332.7	protein_coding		920		chr14	TogoVar
KLHDC2_chr14_49763153_49791385	49766569	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01928.hp2 HG01981.hp2 others(10): Show HG00639.hp1 HG01928.hp2 HG01981.hp2 HG02145.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG03831.hp2 NA18940.hp2 NA18980.hp1 NA18988.hp1 NA19000.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0027 a0006c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0113 a0001c0001t0002g0001 a0001c0001t0002g0017 a0001c0001t0027g0101 a0006c0005t0001g0003	13	336	0.0387	20	c.-19 others(31): Show c.-1900_-1899insTTTTTTTTTTTTTTTTTTTT	KLHDC2	ENSG00000165516.11	transcript	ENST00000298307.10	protein_coding		1583		chr14	TogoVar
KLHDC4_chr16_87702812_87770986	87711858	G G	GCCTGCAC others(13): Show GCCTGCACGGGGACCCTCCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp2 HG01261.hp1 others(33): Show HG00408.hp1 HG01081.hp2 HG01261.hp1 HG01346.hp2 HG01515.hp1 HG01952.hp1 HG02135.hp2 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA19002.hp2 NA19057.hp2 NA19068.hp2 NA19079.hp1 NA19084.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0002 others(1): Show a0001c0001 a0001c0015 a0002c0002 a0002c0021	a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0015t0001 a0002c0002t0001 a0002c0021t0001	a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0143 others(33): Show a0001c0001t0001g0027 a0001c0001t0001g0081 a0001c0001t0001g0143 a0001c0001t0001g0367 a0001c0015t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0100 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0351 a0002c0002t0001g0353 a0002c0002t0001g0354 a0002c0002t0001g0356 a0002c0002t0001g0357 a0002c0002t0001g0358 a0002c0002t0001g0359 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0001g0363 a0002c0002t0001g0365 a0002c0002t0001g0366 a0002c0021t0001g0330	36	380	0.0947	20	c.836 others(35): Show c.836-435_836-416dupGTGGAGGGTCCCCGTGCAGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	8/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87711934	G G	GCCTGCAC others(13): Show GCCTGCACGGGGACCCTCCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG01070.hp2 others(31): Show HG00323.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03225.hp2 HG03490.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18946.hp2 NA19009.hp1 NA19074.hp2 NA19085.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0007 a0011 a0016	a0001c0001 a0002c0002 a0003c0003 others(5): Show a0001c0001 a0002c0002 a0003c0003 a0003c0030 a0006c0006 a0007c0009 a0011c0012 a0016c0019	a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0002c0002t0001 a0003c0003t0001 a0003c0003t0007 a0003c0030t0001 a0006c0006t0001 a0007c0009t0004 a0011c0012t0001 a0016c0019t0001	a0001c0001t0001g0043 a0001c0001t0001g0264 a0001c0001t0001g0265 others(31): Show a0001c0001t0001g0043 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0004g0033 a0002c0002t0001g0037 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0297 a0003c0003t0001g0308 a0003c0003t0001g0310 a0003c0003t0001g0311 a0003c0003t0001g0312 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0320 a0003c0003t0001g0321 a0003c0003t0007g0379 a0003c0030t0001g0319 a0006c0006t0001g0005 a0006c0006t0001g0096 a0006c0006t0001g0198 a0007c0009t0004g0034 a0007c0009t0004g0035 a0011c0012t0001g0145 a0016c0019t0001g0135	34	380	0.0895	20	c.836 others(35): Show c.836-511_836-492dupGCGGAGGGTCCCCGTGCAGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	8/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87711934	G G	GCCTGCAC others(13): Show GCCTGCACGGGGACCCTCTGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG03139.hp1 others(2): Show HG02647.hp2 HG02818.hp2 HG03139.hp1 HG03471.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0023 a0001c0001 a0002c0023	a0001c0001t0001 a0002c0023t0001 a0001c0001t0001 a0002c0023t0001	a0001c0001t0001g0031 a0001c0001t0001g0097 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0097 a0001c0001t0001g0183 a0001c0001t0001g0328 a0002c0023t0001g0138	5	380	0.0132	20	c.836 others(35): Show c.836-492_836-491insGCAGAGGGTCCCCGTGCAGG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	8/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87712018	G G	GGGGACCC others(13): Show GGGGACCCTCCGCCCTGCACA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	380	0.0026	20	c.836 others(35): Show c.836-595_836-576dupTGTGCAGGGCGGAGGGTCCC	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	8/11			chr16	TogoVar
KLHDC7A_chr1_18475930_18490974	18478618	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	438	0.0023	20	c.-23 others(31): Show c.-2364_-2363insAGGGAGGAAGGAAGGAAGGA	KLHDC7A	ENSG00000179023.9	transcript	ENST00000400664.3	protein_coding		2311		chr1	TogoVar
KLHDC7A_chr1_18475930_18490974	18478638	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp1 NA18942.hp1 others(3): Show HG03688.hp1 HG03927.hp1 NA18942.hp1 NA18981.hp2 NA19001.hp1 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0006 a0003c0003t0002 a0003c0003t0006	a0003c0003t0002g0000 a0003c0003t0006g0000 a0003c0003t0002g0000 a0003c0003t0006g0000	6	438	0.0137	20	c.-23 others(31): Show c.-2344_-2343insAGGAAGGAAGGAAGGAAGGA	KLHDC7A	ENSG00000179023.9	transcript	ENST00000400664.3	protein_coding		2291		chr1	TogoVar
KLHDC7A_chr1_18475930_18490974	18478638	G G	GAGGGAGG others(13): Show GAGGGAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	438	0.0023	20	c.-23 others(31): Show c.-2344_-2343insAGGGAGGAAGGAAGGAAGGA	KLHDC7A	ENSG00000179023.9	transcript	ENST00000400664.3	protein_coding		2291		chr1	TogoVar
KLHDC7B_chr22_50540899_50556023	50553202	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01361.hp2 HG01884.hp1 others(13): Show HG01243.hp2 HG01361.hp2 HG01884.hp1 HG02109.hp1 HG02165.hp2 HG02559.hp1 HG02572.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03516.hp1 HG03669.hp2 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19089.hp2	a0006 a0007 a0008 others(3): Show a0006 a0007 a0008 a0013 a0014 a0032	a0006c0039 a0007c0010 a0008c0008 others(4): Show a0006c0039 a0007c0010 a0008c0008 a0008c0032 a0013c0014 a0014c0015 a0032c0059	a0006c0039t0009 a0007c0010t0007 a0008c0008t0009 others(4): Show a0006c0039t0009 a0007c0010t0007 a0008c0008t0009 a0008c0032t0009 a0013c0014t0010 a0014c0015t0012 a0032c0059t0016	a0006c0039t0009g0000 a0007c0010t0007g0000 a0008c0008t0009g0000 others(4): Show a0006c0039t0009g0000 a0007c0010t0007g0000 a0008c0008t0009g0000 a0008c0032t0009g0000 a0013c0014t0010g0000 a0014c0015t0012g0000 a0032c0059t0016g0000	16	432	0.0370	20	c.32 others(31): Show c.3251_*3252insAAATAAATAAATAAATAAAT	KLHDC7B	ENSG00000130487.9	transcript	ENST00000648057.3	protein_coding		2180		chr22	TogoVar
KLHL11_chr17_41843518_41870423	41865493	T T	TGCGCCGC others(13): Show TGCGCCGCCTCGCCTCCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01433.hp1 HG03490.hp2 others(1): Show HG01346.hp2 HG01433.hp1 HG03490.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0018 others(1): Show a0001c0002t0002g0010 a0001c0002t0002g0016 a0001c0002t0002g0018 a0001c0002t0005g0008	4	366	0.0109	20	c.-12 others(29): Show c.-124_-123insTGCTGGAGGCGAGGCGGCGC	KLHL11	ENSG00000178502.6	transcript	ENST00000319121.4	protein_coding		71		chr17	TogoVar
KLHL13_chrX_117892813_118121810	117930290	A A	AAGGCAGG others(13): Show AAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0200 a0001c0002t0003g0200	1	207	0.0048	20	c.193 others(37): Show c.193-9940_193-9921dupGCCTGCCTGCCTGCCTGCCT	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	3/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118053828	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	207	0.0048	20	c.-24 others(39): Show c.-24-25332_-24-25331insCTCTCCTCTCTCTCTCTCTC	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118053830	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	207	0.0048	20	c.-24 others(39): Show c.-24-25334_-24-25333insCTCTCCTCTCTCTCTCTCTC	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118053832	A A	AGAGAGAG others(13): Show AGAGAGAGAGAGAGAGGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	207	0.0048	20	c.-24 others(39): Show c.-24-25336_-24-25335insCTCTCCTCTCTCTCTCTCTC	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar
KLHL13_chrX_117892813_118121810	118069109	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	207	0.0048	20	c.-24 others(39): Show c.-24-40632_-24-40613dupTGTGTGTGTGTGTGTGTGTG	KLHL13	ENSG00000003096.15	transcript	ENST00000540167.6	protein_coding	1/7			chrX	TogoVar

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